Publikationen 2019

• Büttner C, Clahsen T, Regenfuss B, Dreisow ML, Steiber Z, Bock F, Reis A, Cursiefen C:(2019)Tyrosinase Is a Novel Endogenous Regulator of Developmental and Inflammatory Lymphangiogenesis.Am J Pathol. 2019;189(2): 440-448
• Tørring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibæk M, Laulund L, Illum N, Dunkhase-Heinl U, Wiesener A, Popp B, Marangi G, Hjortshøj TD, Ek J, Vogel I, Becher N, Roos L, Zollino M, Fagerberg CR:(2019)Is MED13L-related intellectual disability a recognizable syndrome?Eur J Med Genet. 2019;62(2): 129-136
• Hebebrand M, Vasileiou G, Krumbiegel M, Kraus C, Uebe S, Ekici AB, Thiel CT, Reis A, Popp B:(2019)A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.Am J Med Genet A. 2019;179(1): 50-56
• Mavaddat N, Michailidou K, Dennis J, Lush M, Fachal L, Lee A, Tyrer JP, Chen TH, Wang Q, Bolla MK, Yang X, Adank MA, Ahearn T, Aittomäki K, Allen J, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Auer PL, Auvinen P, Barrdahl M, Beane Freeman LE, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bernstein L, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Bremer M, Brenner H, Brentnall A, Brock IW, Brooks-Wilson A, Brucker SY, Brüning T, Burwinkel B, Campa D, Carter BD, Castelao JE, Chanock SJ, Chlebowski R, Christiansen H, Clarke CL, Collée JM, Cordina-Duverger E, Cornelissen S, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dörk T, dos-Santos-Silva I, Dumont M, Durcan L, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Engel C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Fletcher O, Flyger H, Försti A, Fritschi L, Gabrielson M, Gago-Dominguez M, Gapstur SM, García-Sáenz JA, Gaudet MM, Georgoulias V, Giles GG, Gilyazova IR, Glendon G, Goldberg MS, Goldgar DE, González-Neira A, Grenaker Alnæs GI, Grip M, Gronwald J, Grundy A, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hankinson SE, Harkness EF, Hart SN, He W, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Huang G, Humphreys K, Hunter DJ, Jakimovska M, Jakubowska A, Janni W, John EM, Johnson N, Jones ME, Jukkola-Vuorinen A, Jung A, Kaaks R, Kaczmarek K, Kataja V, Keeman R, Kerin MJ, Khusnutdinova E, Kiiski JI, Knight JA, Ko YD, Kosma VM, Koutros S, Kristensen VN, Krüger U, Kühl T, Lambrechts D, Le Marchand L, Lee E, Lejbkowicz F, Lilyquist J, Lindblom A, Lindström S, Lissowska J, Lo WY, Loibl S, Long J, Lubinski J, Lux MP, MacInnis RJ, Maishman T, Makalic E, Maleva Kostovska I, Mannermaa A, Manoukian S, Margolin S, Martens JWM, Martinez ME, Mavroudis D, McLean C, Meindl A, Menon U, Middha P, Miller N, Moreno F, Mulligan AM, Mulot C, Muñoz-Garzon VM, Neuhausen SL, Nevanlinna H, Neven P, Newman WG, Nielsen SF, Nordestgaard BG, Norman A, Offit K, Olson JE, Olsson H, Orr N, Pankratz VS, Park-Simon TW, Perez JIA, Pérez-Barrios C, Peterlongo P, Peto J, Pinchev M, Plaseska-Karanfilska D, Polley EC, Prentice R, Presneau N, Prokofyeva D, Purrington K, Pylkäs K, Rack B, Radice P, Rau-Murthy R, Rennert G, Rennert HS, Rhenius V, Robson M, Romero A, Ruddy KJ, Ruebner M, Saloustros E, Sandler DP, Sawyer EJ, Schmidt DF, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schumacher F, Schürmann P, Schwentner L, Scott C, Scott RJ, Seynaeve C, Shah M, Sherman ME, Shrubsole MJ, Shu XO, Slager S, Smeets A, Sohn C, Soucy P, Southey MC, Spinelli JJ, Stegmaier C, Stone J, Swerdlow AJ, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Thöne K, Tollenaar RAEM, Tomlinson I, Truong T, Tzardi M, Ulmer HU, Untch M, Vachon CM, van Veen EM, Vijai J, Weinberg CR, Wendt C, Whittemore AS, Wildiers H, Willett W, Winqvist R, Wolk A, Yang XR, Yannoukakos D, Zhang Y, Zheng W, Ziogas A, ABCTB Investigators , kConFab/AOCS Investigators , NBCS Collaborators , Dunning AM, Thompson DJ, Chenevix-Trench G, Chang-Claude J, Schmidt MK, Hall P, Milne RL, Pharoah PDP, Antoniou AC, Chatterjee N, Kraft P, García-Closas M, Simard J, Easton DF:(2019)Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.Am J Hum Genet. 2019;104(1): 21-34
• Scheibe K, Kersten C, Schmied A, Vieth M, Primbs T, Carlé B, Knieling F, Claussen J, Klimowicz AC, Zheng J, Baum P, Meyer S, Schürmann S, Friedrich O, Waldner MJ, Rath T, Wirtz S, Kollias G, Ekici AB, Atreya R, Raymond EL, Mbow ML, Neurath MF, Neufert C:(2019)Inhibiting Interleukin 36 Receptor Signaling Reduces Fibrosis in Mice With Chronic Intestinal Inflammation.Gastroenterology. 2019;156(4): 1082-1097.e11
• Hannemann N, Cao S, Eriksson D, Schnelzer A, Jordan J, Eberhardt M, Schleicher U, Rech J, Ramming A, Uebe S, Ekici A, Canete JD, Chen XX, Baeuerle T, Vera J, Bogdan C, Schett G, Bozec A:(2019)Transcription factor Fra-1 targets arginase-1 to enhance macrophage-mediated inflammation in arthritis.J Clin Invest. 2019;129(7): 2669-2684
• Dörk T, Peterlongo P, Mannermaa A, Bolla MK, Wang Q, Dennis J, Ahearn T, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Augustinsson A, Freeman LEB, Beckmann MW, Beeghly-Fadiel A, Behrens S, Bermisheva M, Blomqvist C, Bogdanova N, Bojesen SE, Brauch H, Brenner H, Burwinkel B, Canzian F, Chan TL, Chang-Claude J, Chanock SJ, Choi JY, Christiansen H, Clarke CL, Couch FJ, Czene K, Daly MB, dos-Santos-Silva I, Dwek M, Eccles DM, Ekici AB, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Fritschisl L, Gabrielson M, Gago-Dominguez M, Gao C, Gapstur SM, García-Closas M, Garcia-Saenz JA, Gaudet MM, Giles GG, Goldberg MS, Goldgar DE, Guénel P, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Hartman M, Hauke J, Hein A, Hillemanns P, Hogervorst FBL, Hooning MJ, Hopper JL, Howell T, Huo DZ, Ito H, Iwasaki M, Jakubowska A, Janni W, John EM, Jung A, Kaaks R, Kang D, Kapoor PM, Khusnutdinova E, Kim SW, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Kwon A, Lambrechts D, Le Marchand L, Li JM, Lindström S, Linet M, Lo WY, Long JR, Lophatananon A, Lubinski J, Manoochehri M, Manoukian S, Margolin S, Martinez E, Matsuo K, Mavroudis D, Meindl A, Menon U, Milne RL, Taib NAM, Muir K, Mulligan AM, Neuhausen SL, Nevanlinna H, Neven P, Newman WG, Offit K, Olopade OI, Olshan AF, Olson JE, Olsson H, Park SK, Park-Simon TW, Peto J, Plaseska-Karanfilska D, Pohl-Rescigno E, Presneau N, Rack B, Radice P, Rashid MU, Rennert G, Rennert HS, Romero A, Ruebner M, Saloustros E, Schmidt MK, Schmutzler RK, Schneider MO, Schoemaker MJ, Scott C, Shen CY, Shu XO, Simard J, Slager S, Smichkoska S, Southey MC, Spinelli JJ, Stone J, Surowy H, Swerdlow AJ, Tamimi RM, Tapper WJ, Teo SH, Terry MB, Toland AE, Tollenaar RAEM, Torres D, Torres-Mejia G, Troester MA, Truong T, Tsugane S, Untch M, Vachon CM, van den Ouweland AMW, van Veen EM, Vijai J, Wendt C, Wolk A, Yu JC, Zheng W, Ziogas A, Ziv E, Dunning AM, Pharoah PDP, Schindler D, Devilee P, Easton DF, Balleine R, Baxter R, Braye S, Carpenter J, Dahlstrom J, Forbes J, Lee CS, Marsh D, Morey A, Pathmanathan N, Scott R, Simpson P, Spigelman A, Wilcken N, Yip D, Zeps N, Borresen-Dale AL, Alnaes GIG, Sahlberg KK, Ottestad L, Kåresen R, Schlichting E, Holmen MM, Sauer T, Haakensen V, Engebråten O, Naume B, Fossa A, Kiserud CE, Reinertsen KV, Helland Å, Riis M, Geisler J, ABCTB Investigators NBCS Collaborators:(2019)Two truncating variants in FANCC and breast cancer riskSci Rep. 2019;9():
• Ruddy KJ, Schaid DJ, Partridge AH, Larson NB, Batzler A, Haeberle L, Dittrich R, Widschwendter P, Fink V, Bauer E, Schwitulla J, Ruebner M, Ekici AB, Aivazova-Fuchs V, Stewart EA, Beckmann MW, Ginsburg E, Wang LW, Weinshilboum RM, Couch FJ, Janni W, Rack B, Vachon C, Fasching PA:(2019)Genetic predictors of chemotherapy-related amenorrhea in women with breast cancer.Fertil Steril. 2019;112(4): 731-739.e1
• Buckley MA, Woods NT, Tyrer JP, Mendoza-Fandiño G, Lawrenson K, Hazelett DJ, Najafabadi HS, Gjyshi A, Carvalho RS, Lyra PC, Coetzee SG, Shen HC, Yang AW, Earp MA, Yoder SJ, Risch H, Chenevix-Trench G, Ramus SJ, Phelan CM, Coetzee GA, Noushmehr H, Hughes TR, Sellers TA, Goode EL, Pharoah PD, Gayther SA, Monteiro ANA, Chen YA, Fridley BL, Aben KKH, Kiemeney LA, Anton-Culver H, Ziogas A, Bruinsma F, Milne RL, Bandera EV, Giles GG, Bean YT, Pejovic T, Beckmann MW, Hein A, Bjorge L, Fasching PA, Thomsen LCV, Kopperud RK, Bischof K, Bogdanova N, Doek T, Hillemanns P, Brinton LA, Wentzensen N, Yang H, Brooks-Wilson A, Bunker CH, Butzow R, Nevanlinna H, Pelttari LM, Campbell IG, Southey MC, Modugno F, Carty K, Glasspool R, McNeish I, Paul J, Siddiqui N, Chang-Claude J, Rudolph A, Chang-Claude J, Cook LS, Cramer DW, Terry KL, Cunningham JM, Cybulski C, Gronwald J, Jakubowska A, Lubinski J, Dansonka-Mieszkowska A, Kupryjanczyk J, Rzepecka IK, du Bois A, Harter P, Dicks E, Song HL, Doherty JA, Rossing MA, Duerst M, Easton DF, Eccles DM, Edwards RP, Ekici AB, Fasching PA, Gao YT, Milne RL, Gentry-Maharaj A, Giles GG, Goodman MT, Thompson PJ, Hasmad HN, Teo SH, Hildebrandt MAT, Wu XF, Hogdall E, Jensen A, Kjaer SK, Hogdall E, Iversen ES, Karlan BY, Lester J, Orsulic S, Walsh CS, Kelley JL, Lambrechts D, Lambrechts S, Vergote I, Lee AW, Levine DA, Liang D, Lissowska J, Lu K, Lundvall L, Kjaer SK, Massuger LFAG, van Altena AM, Matsuo K, McGuire V, McLaughlin JR, Menon U, Moysich KB, Ness RB, Odunsi K, Olson SH, Orlow I, Pike MC, Pearce CL, Wu AH, Permuth JB, Tsai YY, Tworoger SS, Poole EM, Rosen B, Shu XO, Shvetsov YB, Wilkens LR, Sieh W, Spiewankiewicz B, Sucheston-Campbell L, Thomsen L, Wang-Gohrke S, Whittemore AS, Woo YL, Zheng W, Berchuck A, Chenevix-Trench G, Schildkraut JM, Kelemen LE, Freedman ML, Ovarian Canc Asso Consortium AOCS Management Grp:(2019)Functional Analysis and Fine Mapping of the 9p22.2 Ovarian Cancer Susceptibility LocusCancer Res. 2019;79(3): 467-481
• Culemann S, Grueneboom A, Angel Nicolas-Avila JA, Weidner D, Laemmle KF, Rothe T, Quintana JA, Kirchner P, Krljanac B, Eberhardt M, Ferrazzi F, Kretzschmar E, Schicht M, Fischer K, Gelse K, Faas M, Pfeifle R, Ackermann JA, Pachowsky M, Renner N, Simon D, Haseloff RF, Ekici AB, Baeuerle T, Blasig IE, Vera J, Voehringer D, Kleyer A, Paulsen F, Schett G, Hidalgo A, Kroenke G:(2019)Locally renewing resident synovial macrophages provide a protective barrier for the joint.Nature. 2019;572(7771): 670-675
• Zweier M, Begemann A, McWalter K, Cho MT, Abela L, Banka S, Behring B, Berger A, Brown CW, Carneiro M, Chen J, Cooper GM, Finnila CR, Sacoto MJG, Henderson A, Hueffmeier U, Joset P, Kerr B, Lesca G, Leszinski GS, McDermott JH, Meltzer MR, Monaghan KG, Mostafavi R, Ounap K, Plecko B, Powis Z, Purcarin G, Reimand T, Riedhammer KM, Schreiber JM, Sirsi D, Wierenga KJ, Wojcik MH, Papuc SM, Steindl K, Sticht H, Rauch A, DDD study:(2019)Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizuresEur J Hum Genet. 2019;27(): 1383-1384
• Gong B, Zhang H, Huang L, Chen Y, Shi Y, Tam PO, Zhu X, Huang Y, Lei B, Sundaresan P, Li X, Jiang L, Yang J, Lin Y, Lu F, Chen L, Li Y, Leung CK, Guo X, Zhang S, Huang G, Wu Y, Zhou T, Shuai P, Tham CC, Weisschuh N, Krishnadas SR, Mardin C, Reis A, Yang J, Zhang L, Zhou Y, Wang Z, Qu C, Shaw PX, Pang CP, Sun X, Zhu W, Li DY, Pasutto F, Yang Z:(2019)Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis.Genet Med. 2019;21(10): 2345-2354
• Cameron JM, Maljevic S, Nair U, Aung YH, Cogné B, Bezieau S, Blair E, Isidor B, Zweier C, Reis A, Koenig MK, Maarup T, Sarco D, Afenjar A, Huq AHMM, Kukolich M, de Villemeur TB, Nava C, Héron B, Petrou S, Berkovic SF:(2019)Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.Ann. Clin. Transl. Neurol.. 2019;6(7): 1263-1272
• Hauer NN, Popp B, Taher L, Vogl C, Dhandapany PS, Buettner C, Uebe S, Sticht H, Ferrazzi F, Ekici AB, De Luca A, Klinger P, Kraus C, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Rauch A, Wieczorek D, Jung AM, Rohrer TR, Zenker M, Doerr HG, Reis A, Thiel CT:(2019)Evolutionary conserved networks of human height identify multiple Mendelian causes of short statureEur J Hum Genet. 2019;27(7): 1061-1071
• Hellwig M, Lauffer MC, Bockmayr M, Spohn M, Merk DJ, Harrison L, Ahlfeld J, Kitowski A, Neumann JE, Ohli J, Holdhof D, Niesen J, Schoof M, Kool M, Kraus C, Zweier C, Holmberg D, Schueller U:(2019)TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastomaActa Neuropathol (Berl). 2019;137(4): 657-673
• Vasileiou G, Hoyer J, Thiel CT, Schaefer J, Zapke M, Krumbiegel M, Kraus C, Zweier M, Uebe S, Ekici AB, Schneider M, Wiesener M, Rauch A, Faschingbauer F, Reis A, Zweier C, Popp B:(2019)Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?Prenat Diagn. 2019;39(12): 1136-1147
• Popp B, Agaimy A, Kraus C, Knaup KX, Ekici AB, Uebe S, Reis A, Wiesener M, Zweier C:(2019)Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disabilityBMC Cancer. 2019;19():
• Zundler S, Becker E, Spocinska M, Slawik M, Parga-Vidal L, Stark R, Wiendl M, Atreya R, Rath T, Leppkes M, Hildner K, López-Posadas R, Lukassen S, Ekici AB, Neufert C, Atreya I, van Gisbergen KPJM, Neurath MF:(2019)Hobit- and Blimp-1-driven CD4(+) tissue-resident memory T cells control chronic intestinal inflammationNat Immunol. 2019;20(3): 288-+
• Diets IJ, Hoyer J, Ekici AB, Popp B, Hoogerbrugge N, van Reijmersdal SV, Bhaskaran R, Hadjihannas M, Vasileiou G, Thiel CT, Seven D, Uebe S, Ilencikova D, Waanders E, Mavinkurve-Groothuis AMC, Roeleveld N, de Krijger RR, Wegert J, Graf N, Vokuhl C, Agaimy A, Gessler M, Reis A, Kuiper RP, Jongmans MCJ, Metzler M:(2019)TRIM28 haploinsufficiency predisposes to Wilms tumor.Int J Cancer. 2019;145(4): 941-951
• Wohlfahrt T, Rauber S, Uebe S, Luber M, Soare A, Ekici A, Weber S, Matei AE, Chen CW, Maier C, Karouzakis E, Kiener HP, Pachera E, Dees C, Beyer C, Daniel C, Gelse K, Kremer AE, Naschberger E, Stürzl M, Butter F, Sticherling M, Finotto S, Kreuter A, Kaplan MH, Jüngel A, Gay S, Nutt SL, Boykin DW, Poon GMK, Distler O, Schett G, Distler JHW, Ramming A:(2019)PU.1 controls fibroblast polarization and tissue fibrosis.Nature. 2019;566(7744): 344-349
• Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SV, Pujol R, Kiiski JI, Muranen TA, Barnes DR, Dennis J, Michailidou K, Bolla MK, Leslie G, Aalfs CM, ABCTB Investigators , Adank MA, Adlard J, Agata S, Cadoo K, Agnarsson BA, Ahearn T, Aittomäki K, Ambrosone CB, Andrews L, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Arun BK, Asseryanis E, Auber B, Auvinen P, Azzollini J, Balmana J, Barkardottir RB, Barrowdale D, Barwell J, Beane Freeman LE, Beauparlant CJ, Beckmann MW, Behrens S, Benitez J, Berger R, Bermisheva M, Blanco AM, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Borg A, Brady AF, Brauch H, Brenner H, Brüning T, Burwinkel B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campa D, Campbell IG, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Claes KBM, Clarke CL, Collavoli A, Conner TA, Cox DG, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Ditsch N, Domchek SM, Dorfling CM, dos-Santos-Silva I, Durda K, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Foulkes WD, Friebel TM, Friedman E, Gabrielson M, Gaddam P, Gago-Dominguez M, Gao C, Gapstur SM, Garber J, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, GEMO Study Collaborators , Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, Guénel P, Gutierrez-Barrera AM, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hopper JL, Hosgood HD, Howell A, Hu C, Hulick PJ, Hunter DJ, Imyanitov EN, kConFab , Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John EM, Jones ME, Jung A, Kaaks R, Karlan BY, Khusnutdinova E, Kitahara CM, Konstantopoulou I, Koutros S, Kraft P, Lambrechts D, Lazaro C, Le Marchand L, Lester J, Lesueur F, Lilyquist J, Loud JT, Lu KH, Luben RN, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Maurer T, Mavroudis D, Mebirouk N, Meindl A, Menon U, Miller A, Montagna M, Nathanson KL, Neuhausen SL, Newman WG, Nguyen-Dumont T, Nielsen FC, Nielsen S, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Olshan AF, Olson JE, Olsson H, Osorio A, Ottini L, Peissel B, Peixoto A, Peto J, Plaseska-Karanfilska D, Pocza T, Presneau N, Pujana MA, Punie K, Rack B, Rantala J, Rashid MU, Rau-Murthy R, Rennert G, Lejbkowicz F, Rhenius V, Romero A, Rookus MA, Ross EA, Rossing M, Rudaitis V, Ruebner M, Saloustros E, Sanden K, Santamariña M, Scheuner MT, Schmutzler RK, Schneider M, Scott C, Senter L, Shah M, Sharma P, Shu XO, Simard J, Singer CF, Sohn C, Soucy P, Southey MC, Spinelli JJ, Steele L, Stoppa-Lyonnet D, Tapper WJ, Teixeira MR, Terry MB, Thomassen M, Thompson J, Thull DL, Tischkowitz M, Tollenaar RAEM, Torres D, Troester MA, Truong T, Tung N, Untch M, Vachon CM, van Rensburg EJ, van Veen EM, Vega A, Viel A, Wappenschmidt B, Weitzel JN, Wendt C, Wieme G, Wolk A, Yang XR, Zheng W, Ziogas A, Zorn KK, Dunning AM, Lush M, Wang Q, McGuffog L, Parsons MT, Pharoah PDP, Fostira F, Toland AE, Andrulis IL, Ramus SJ, Swerdlow AJ, Greene MH, Chung WK, Milne RL, Chenevix-Trench G, Dörk T, Schmidt MK, Easton DF, Radice P, Hahnen E, Antoniou AC, Couch FJ, Nevanlinna H, Surralles J, Peterlongo P, Balleine R, Baxter R, Braye S, Carpenter J, Dahlstrom J, Forbes J, Lee CS, Marsh D, Morey A, Pathmanathan N, Scott R, Simpson P, Spigelman A, Wilcken N, Yip D, Zeps N, Belotti M, Bertrand O, Birot AM, Buecher B, Caputo S, Dupré A, Fourme E, Gauthier-Villars M, Golmard L, Le Mentec M, Moncoutier V, de Pauw A, Saule C, Boutry-Kryza N, Calender A, Giraud S, Léone M, Bressac-de-Paillerets B, Caron O, Guillaud-Bataille M, Bignon YJ, Uhrhammer N, Bonadona V, Lasset C, Berthet P, Castera L, Vaur D, Bourdon V, Nogues C, Noguchi T, Popovici C, Remenieras A, Sobol H, Coupier I, Pujol P, Adenis C, Dumont A, Révillion F, Muller D, Barouk-Simonet E, Bonnet F, Bubien V, Longy M, Sevenet N, Gladieff L, Guimbaud R, Feillel V, Toulas C, Dreyfus H, Leroux CD, Peysselon M, Rebischung C, Legrand C, Baurand A, Bertolone G, Coron F, Faivre L, Jacquot C, Lizard S, Kientz C, Lebrun M, Prieur F, Fert-Ferrer S, Mari V, Vénat-Bouvet L, Bezieau S, Delnatte C, Mortemousque I, Colas C, Coulet F, Soubrier F, Warcoin M, Bronner M, Sokolowska J, Collonge-Rame MA, Damette A, Gesta P, Lallaoui H, Chiesa J, Molina-Gomes D, Ingster O, Manouvrier-Hanu S, Lejeune S, Aghmesheh M, Greening S, Amor D, Gattas M, Botes L, Buckley M, Friedlander M, Koehler J, Meiser B, Saleh M, Salisbury E, Trainer A, Tucker K, Antill Y, Dobrovic A, Fellows A, Fox S, Harris M, Nightingale S, Phillips K, Sambrook J, Thorne H, Armitage S, Arnold L, Balleine R, Kefford R, Kirk J, Rickard E, Bastick P, Beesley J, Hayward N, Spurdle A, Walker L, Beilby J, Saunders C, Bennett I, Blackburn A, Bogwitz M, Gaff C, Lindeman G, Pachter N, Scott C, Sexton A, Visvader J, Taylor J, Winship I, Brennan M, Brown M, French J, Edwards S, Burgess M, Burke J, Patterson B, Butow P, Culling B, Caldon L, Callen D, Chauhan D, Eisenbruch M, Heiniger L, Chauhan M, Christian A, Dixon J, Kidd A, Cohen P, Colley A, Fenton G, Crook A, Dickson R, Field M, Marsh D, Cui J, Cummings M, Dawson SJ, deFazio A, Delatycki M, Dudding T, Edkins T, Farshid G, Flanagan J, Fong P, Forrest L, Gallego-Ortega D, George P, Gill G, Kollias J, Haan E, Hart S, Jenkins M, Hunt C, Lakhani S, Lipton L, Lobb L, Mann G, McLachlan SA, O'Connell S, O'Sullivan S, Pieper E, Robinson B, Saunus J, Scott E, Scott R, Shelling A, Simpson P, Williams R, Young MA:(2019)The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.NPJ Breast Cancer. 2019;5():
• Escala-Garcia M, Guo Q, Dörk T, Canisius S, Keeman R, Dennis J, Beesley J, Lecarpentier J, Bolla MK, Wang Q, Abraham J, Andrulis IL, Anton-Culver H, Arndt V, Auer PL, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bernstein L, Blomqvist C, Boeckx B, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Brenner H, Brentnall A, Brinton L, Broberg P, Brock IW, Brucker SY, Burwinkel B, Caldas C, Caldes T, Campa D, Canzian F, Carracedo A, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Cheng TD, Chin SF, Clarke CL, NBCS Collaborators , Cordina-Duverger E, Couch FJ, Cox DG, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dunn JA, Dunning AM, Durcan L, Dwek M, Earl HM, Ekici AB, Eliassen AH, Ellberg C, Engel C, Eriksson M, Evans DG, Figueroa J, Flesch-Janys D, Flyger H, Gabrielson M, Gago-Dominguez M, Galle E, Gapstur SM, García-Closas M, García-Sáenz JA, Gaudet MM, George A, Georgoulias V, Giles GG, Glendon G, Goldgar DE, González-Neira A, Alnæs GIG, Grip M, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Hankinson S, Harkness EF, Harrington PA, Hart SN, Hartikainen JM, Hein A, Hillemanns P, Hiller L, Holleczek B, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Huang G, Humphreys K, Hunter DJ, Janni W, John EM, Jones ME, Jukkola-Vuorinen A, Jung A, Kaaks R, Kabisch M, Kaczmarek K, Kerin MJ, Khan S, Khusnutdinova E, Kiiski JI, Kitahara CM, Knight JA, Ko YD, Koppert LB, Kosma VM, Kraft P, Kristensen VN, Krüger U, Kühl T, Lambrechts D, Le Marchand L, Lee E, Lejbkowicz F, Li L, Lindblom A, Lindström S, Linet M, Lissowska J, Lo WY, Loibl S, Lubi?ski J, Lux MP, MacInnis RJ, Maierthaler M, Maishman T, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Mavroudis D, McLean C, Meindl A, Middha P, Miller N, Milne RL, Moreno F, Mulligan AM, Mulot C, Nassir R, Neuhausen SL, Newman WT, Nielsen SF, Nordestgaard BG, Norman A, Olsson H, Orr N, Pankratz VS, Park-Simon TW, Perez JIA, Pérez-Barrios C, Peterlongo P, Petridis C, Pinchev M, Prajzendanc K, Prentice R, Presneau N, Prokofieva D, Pylkäs K, Rack B, Radice P, Ramachandran D, Rennert G, Rennert HS, Rhenius V, Romero A, Roylance R, Saloustros E, Sawyer EJ, Schmidt DF, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schumacher F, Schwentner L, Scott RJ, Scott C, Seynaeve C, Shah M, Simard J, Smeets A, Sohn C, Southey MC, Swerdlow AJ, Talhouk A, Tamimi RM, Tapper WJ, Teixeira MR, Tengström M, Terry MB, Thöne K, Tollenaar RAEM, Tomlinson I, Torres D, Truong T, Turman C, Turnbull C, Ulmer HU, Untch M, Vachon C, van Asperen CJ, van den Ouweland AMW, van Veen EM, Wendt C, Whittemore AS, Willett W, Winqvist R, Wolk A, Yang XR, Zhang Y, Easton DF, Fasching PA, Nevanlinna H, Eccles DM, Pharoah PDP, Schmidt MK:(2019)Genome-wide association study of germline variants and breast cancer-specific mortality.Br J Cancer. 2019;120(6): 647-657
• Kiechle M, von Einem B, Höfs L, Voehringer P, Grozdanov V, Markx D, Parlato R, Wiesner D, Mayer B, Sakk O, Baumann B, Lukassen S, Liss B, Ekici AB, Ludolph AC, Walther P, Ferger B, McLean PJ, Falkenburger BH, Weishaupt JH, Danzer KM:(2019)In Vivo Protein Complementation Demonstrates Presynaptic α-Synuclein Oligomerization and Age-Dependent Accumulation of 8-16-mer Oligomer Species.Cell Rep. 2019;29(9): 2862-2874.e9
• Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B:(2019)The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.Orphanet J Rare Dis. 2019;14(1):
• Löhr S, Ekici AB, Uebe S, Büttner C, Köhm M, Behrens F, Böhm B, Sticherling M, Schett G, Simon D, Mössner R, Nimeh A, Oji V, Assmann G, Rech J, Holmdahl R, Burkhardt H, Reis A, Hüffmeier U:(2019)Analyses of association of psoriatic arthritis and psoriasis vulgaris with functional NCF1 variants.Rheumatology (Oxford). 2019;58(5): 915-917
• Hueffmeier UD, Sticht H, Wenzel J, Wilsmann-Theis D, Wolff K, Loehr S, Frey B, Hahn M, Ekici AB, Uebe S, Thiel C, Reis A, Prinz J, Oji V, Schulz P, Kingo K, Koks S, Moessner R, Munoz L, Kremer AE, Frey S:(2019)Rare frameshift mutation in SERPINA3 contributes to generalized pustular psoriasisEur J Hum Genet. 2019;27(): 1366-1367
• Hueffmeier UD, Loehr S, Ekici AB, Uebe S, Koehm M, Behrens F, Boehm B, Sticherling M, Schett G, Moessner R, Nimeh A, Assmann G, Rech J, Oji V, Holmdahl R, Burkhardt H, Reis A:(2019)Association analyses of functional NCF1 variants in psoriatic arthritis and psoriasis vulgarisEur J Hum Genet. 2019;27(): 125-125
• Fazzini F, Lamina C, Fendt L, Schultheiss UT, Kotsis F, Hicks AA, Meiselbach H, Weissensteiner H, Forer L, Krane V, Eckardt KU, Köttgen A, Kronenberg F, GCKD Investigators , Eckardt KU, Meiselbach H, Schneider M, Dienemann T, Prokosch HU, Bärthlein B, Beck A, Ganslandt T, Reis A, Ekici AB, Avendano S, Becker-Grosspitsch D, Alberth-Schmidt U, Hausknecht B, Zitzmann R, Weigel A, Walz G, Köttgen A, Schultheiß U, Kotsis F, Meder S, Mitsch E, Reinhard U, Floege J, Schlieper G, Saritas T, Ernst S, Beaujean N, Schaeffner E, Baid-Agrawal S, Theisen K, Haller H, Menne J, Zeier M, Sommerer C, Woitke R, Wolf G, Busch M, Fuß R, Sitter T, Blank C, Wanner C, Krane V, Börner-Klein A, Bauer B, Kronenberg F, Raschenberger J, Kollerits B, Forer L, Schönherr S, Weissensteiner H, Oefner P, Gronwald W, Zacharias H, Schmid M, Nadal J:(2019)Mitochondrial DNA copy number is associated with mortality and infections in a large cohort of patients with chronic kidney disease.Kidney Int. 2019;96(2): 480-488
• Zundler S, Becker E, Spocinska M, Slawik M, Parga-Vidal L, Stark R, Wiendl M, Atreya R, Rath T, Leppkes M, Hildner K, López-Posadas R, Lukassen S, Ekici AB, Neufert C, Atreya I, van Gisbergen KPJM, Neurath MF:(2019)Hobit- and Blimp-1-driven CD4(+) tissue-resident memory T cells control chronic intestinal inflammation (vol 20, pg 288, 2019)Nat Immunol. 2019;20(4): 514-514
• Zweier C:(2019)Report 2018 of the Syndrome Day CommitteeMed. Genet.. 2019;31(1): 36-36
• Fenckova M, Blok LER, Asztalos L, Goodman DP, Cizek P, Singgih EL, Glennon JC, IntHout J, Zweier C, Eichler EE, von Reyn CR, Bernier RA, Asztalos Z, Schenck A:(2019)Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum DisordersBiol Psychiatry. 2019;86(4): 294-305
• Schrauder MG, Brunel-Geuder L, Haeberle L, Wunderle M, Hoyer J, Csorba R, Reis A, Schulz-Wendtland R, Beckmann MW, Lux MP:(2019)Cost effectiveness of bilateral risk-reducing mastectomy and salpingo-oophorectomyEur J Med Res. 2019;24(1):
• Abicht A, Neuhann T, Mehnert L, Rost I, Reis A, Zweier C, Holinski-Feder E:(2019)Diagnostics of rare diseases with next generation sequencing-arrived at the patients or rejected?Med. Genet.. 2019;31(3): 335-343
• Berner D, Hoja U, Zenkel M, Ross JJ, Uebe S, Paoli D, Frezzotti P, Rautenbach RM, Ziskind A, Williams SE, Carmichael TR, Ramsay M, Topouzis F, Chatzikyriakidou A, Lambropoulos A, Sundaresan P, Ayub H, Akhtar F, Qamar R, Zenteno JC, Cruz-Aguilar M, Astakhov YS, Dubina M, Wiggs J, Ozaki M, Kruse FE, Aung T, Reis A, Khor CC, Pasutto F, Schlötzer-Schrehardt U:(2019)The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome.Hum Mol Genet. 2019;28(15): 2531-2548
• Turan S, Boerstler T, Kavyanifar A, Loskarn S, Reis A, Winner B, Lie DC:(2019)A novel human stem cell model for Coffin-Siris syndrome-like syndrome reveals the importance of SOX11 dosage for neuronal differentiation and survivalHum Mol Genet. 2019;28(15): 2589-2599
• Menzel-Severing J, Meiller R, Kraus C, Trollmann R, Atalay D:(2019)Brittle cornea syndrome type 1 caused by compound heterozygosity of two mutations in the ZNF469 geneOphthalmologe. 2019;116(8): 780-784
• Bastian L, Schroeder MP, Eckert C, Schlee C, Tanchez JO, Kaempf S, Wagner DL, Schulze V, Isaakidis K, Lazaro-Navarro J, Haenzelmann S, James AR, Ekici A, Burmeister T, Schwartz S, Schrappe M, Horstmann M, Vosberg S, Krebs S, Blum H, Hecht J, Greif PA, Rieger MA, Brueggemann M, Goekbuget N, Neumann M, Baldus CD:(2019)PAX5 biallelic genomic alterations define a novel subgroup of B-cell precursor acute lymphoblastic leukemiaLeukemia. 2019;33(8): 1895-1909
• Iqbal Z, Tawamie H, Ba W, Reis A, Al Halak B, Sticht H, Uebe S, Kasri NN, Riazuddin S, van Bokhoven H, Abou Jamra R:(2019)Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotoniaGenet Med. 2019;21(8): 1790-1796
• Berner D, Hoja U, Zenkel M, Pasutto F, Lee MC, Aung T, Khor CC, Reis A, Kruse FE, Schlötzer-Schrehardt U:(2019)Functional implication of the pseudoexfoliation-associated rare variant p.Y407F at LOXL1Invest Ophthalmol Vis Sci. 2019;60(9):
• Clahsen T, Buettner C, Regenfuss B, Gabriel T, Bock F, Reis A, Cursiefen C:(2019)Tyrosinase is a novel endogenous inhibitor of lymphangiogenesisInvest Ophthalmol Vis Sci. 2019;60(9):
• Hirbo J, Pasutto F, Pawar P, Sealock J, Evans P, Gamazon E, Tao R, Reis A, Berner D, Schlötzer-Schrehardt U, Brantley MA, Khor CC, Cox N, Joos KM:(2019)Identifying Genes that Underlie Exfoliation Syndrome using Genetically Determined Gene ExpressionInvest Ophthalmol Vis Sci. 2019;60(9):
• Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, Van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM, Mcrae JF, Clayton S, Fitzgerald TW, Kaplanis J, Prigmore E, Rajan D, Sifrim A, Aitken S, Akawi N, Alvi M, Ambridge K, Barrett DM, Bayzetinova T, Jones P, Jones WD, King D, Krishnappa N, Mason LE, Singh T, Tivey AR, Ahmed M, Anjum U, Archer H, Armstrong R, Awada J, Balasubramanian M, Banka S, Baralle D, Barnicoat A, Batstone P, Baty D, Bennett C, Berg J, Bernhard B, Bevan AP, Bitner-Glindzicz M, Blair E, Blyth M, Bohanna D, Bourdon L, Bourn D, Bradley L, Brady A, Brent S, Brewer C, Brunstrom K, Bunyan DJ, Burn J, Canham N, Castle B, Chandler K, Chatzimichali E, Cilliers D, Clarke A, Clasper S, Clayton-Smith J, Clowes V, Coates A, Cole T, Colgiu I, Collins A, Collinson MN, Connell F, Cooper N, Cox H, Cresswell L, Cross G, Crow Y, D'Alessandro M, Dabir T, Davidson R, Davies S, de Vries D, Dean J, Deshpande C, Devlin G, Dixit A, Dobbie A, Donaldson A, Donnai D, Donnelly D, Donnelly C, Douglas A, Douzgou S, Duncan A, Eason J, Ellard S, Ellis I, Elmslie F, Evans K, Everest S, Fendick T, Fisher R, Flinter F, Foulds N, Fry A, Fryer A, Gardiner C, Gaunt L, Ghali N, Gibbons R, Gill H, Goodship J, Goudie D, Gray E, Green A, Greene P, Greenhalgh L, Gribble S, Harrison R, Harrison L, Harrison V, Hawkins R, He L, Hellens S, Henderson A, Hewitt S, Hildyard L, Hobson E, Holden S, Holder M, Holder S, Hollingsworth G, Homfray T, Humphreys M, Hurst J, Hutton B, Ingram S, Irving M, Islam L, Jackson A, Jarvis J, Jenkins L, Johnson D, Jones E, Josifova D, Joss S, Kaemba B, Kazembe S, Kelsell R, Kerr B, Kingston H, Kini U, Kinning E, Kirby G, Kirk C, Kivuva E, Kraus A, Kumar D, Kumar VKA, Lachlan K, Lam W, Lampe A, Langman C, Lees M, Lim D, Longman C, Lowther G, Lynch SA, Magee A, Maher E, Male A, Mansour S, Marks K, Martin K, Maye U, McCann E, McConnell V, McEntagart M, McGowan R, McKay K, McKee S, McMullan DJ, McNerlan S, McWilliam C, Mehta S, Metcalfe K, Middleton A, Miedzybrodzka Z, Miles E, Mohammed S, Montgomery T, Moore D, Morgan S, Morton J, Mugalaasi H, Murday V, Murphy H, Naik S, Nemeth A, Nevitt L, Norman A, O'Shea R, Ogilvie C, Ong KR, Park SM, Parker MJ, Patel C, Paterson J, Payne S, Perrett D, Phipps J, Pilz DT, Pollard M, Pottinger C, Poulton J, Pratt N, Prescott K, Pridham A, Procter A, Purnell H, Quarrell O, Ragge N, Rahbari R, Randall J, Raymond L, Rice D, Robert L, Roberts E, Roberts J, Roberts P, Roberts G, Ross A, Rosser E, Saggar A, Samant S, Sampson J, Sandford R, Sarkar A, Schweiger S, Scott R, Scurr I, Selby A, Seller A, Sequeira C, Shannon N, Sharif S, Shaw-Smith C, Shearing E, Shears D, Sheridan E, Simonic I, Singzon R, Skitt Z, Smith A, Smith K, Smithson S, Sneddon L, Splitt M, Squires M, Stewart F, Stewart H, Straub V, Suri M, Sutton V, Swaminathan GJ, Sweeney E, Tatton-Brown K, Taylor C, Taylor R, Tein M, Temple IK, Thomson J, Tischkowitz M, Tomkins S, Torokwa A, Treacy B, Turner C, Turnpenny P, Tysoe C, Vandersteen A, Varghese V, Vasudevan P, Vijayarangakannan P, Vogt J, Wakeling E, Wallwark S, Waters J, Weber A, Wellesley D, Whiteford M, Widaa S, Wilcox S, Wilkinson E, Williams D, Williams N, Wilson L, Woods G, Wragg C, Wright M, Yates L, Yau M, Nellaker C, Parker M, Firth HV, Wright CF, FitzPatrick DR, Barrett JC, Hurles ME, DDD study:(2019)CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)Nat Commun. 2019;10():
• Coll-Tane M, Krebbers A, Castells-Nobau A, Zweier C, Schenck A:(2019)Intellectual disability and autism spectrum disorders 'on the fly': insights from DrosophilaDis Model Mech. 2019;12(5):
• Zweier M, Begemann A, McWalter K, Cho MT, Abela L, Banka S, Behring B, Berger A, Brown CW, Carneiro M, Chen J, Cooper GM, Deciphering Developmental Disorders (DDD) Study , Finnila CR, Guillen Sacoto MJ, Henderson A, Hüffmeier U, Joset P, Kerr B, Lesca G, Leszinski GS, McDermott JH, Meltzer MR, Monaghan KG, Mostafavi R, Ounap K, Plecko B, Powis Z, Purcarin G, Reimand T, Riedhammer KM, Schreiber JM, Sirsi D, Wierenga KJ, Wojcik MH, Papuc SM, Steindl K, Sticht H, Rauch A:(2019)Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.Eur J Hum Genet. 2019;27(5): 747-759
• Hansen M, Peltier J, Killy B, Amin B, Bodendorfer B, Hartlova A, Uebel S, Bosmann M, Hofmann J, Buettner C, Ekici AB, Kuttke M, Franzyk H, Foged C, Beer-Hammer S, Schabbauer G, Trost M, Lang R:(2019)Macrophage Phosphoproteome Analysis Reveals MINCLE-dependent and -independent Mycobacterial Cord Factor SignalingMol Cell Proteomics. 2019;18(4): 669-685
• Tiosano D, Baris HN, Chen A, Hitzert MM, Schueler M, Gulluni F, Wiesener A, Bergua A, Mory A, Copeland B, Gleeson JG, Rump P, van Meer H, Sival DA, Haucke V, Kriwinsky J, Knaup KX, Reis A, Hauer NN, Hirsch E, Roepman R, Pfundt R, Thiel CT, Wiesener MS, Aslanyan MG, Buchner DA:(2019)Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.PLoS Genet. 2019;15(4):
• Siggs OM, Souzeau E, Pasutto F, Dubowsky A, Smith JEH, Taranath D, Pater J, Rait JL, Narita A, Mauri L, Del Longo A, Reis A, Chappell A, Kearns LS, Staffieri SE, Elder JE, Ruddle JB, Hewitt AW, Burdon KP, Mackey DA, Craig JE:(2019)Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital GlaucomaJAMA Ophthalmol. 2019;137(4): 348-355
• Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC:(2019)Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statementClin Genet. 2019;95(4): 462-478
• Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, Van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM, Mcrae JF, Clayton S, Fitzgerald TW, Kaplanis J, Prigmore E, Rajan D, Sifrim A, Aitken S, Akawi N, Alvi M, Ambridge K, Barrett DM, Bayzetinova T, Jones P, Jones WD, King D, Krishnappa N, Mason LE, Singh T, Tivey AR, Ahmed M, Anjum U, Archer H, Armstrong R, Awada J, Balasubramanian M, Banka S, Baralle D, Barnicoat A, Batstone P, Baty D, Bennett C, Berg J, Bernhard B, Bevan AP, Bitner-Glindzicz M, Blair E, Blyth M, Bohanna D, Bourdon L, Bourn D, Bradley L, Brady A, Brent S, Brewer C, Brunstrom K, Bunyan DJ, Burn J, Canham N, Castle B, Chandler K, Chatzimichali E, Cilliers D, Clarke A, Clasper S, Clayton-Smith J, Clowes V, Coates A, Cole T, Colgiu I, Collins A, Collinson MN, Connell F, Cooper N, Cox H, Cresswell L, Cross G, Crow Y, D'Alessandro M, Dabir T, Davidson R, Davies S, de Vries D, Dean J, Deshpande C, Devlin G, Dixit A, Dobbie A, Donaldson A, Donnai D, Donnelly D, Donnelly C, Douglas A, Douzgou S, Duncan A, Eason J, Ellard S, Ellis I, Elmslie F, Evans K, Everest S, Fendick T, Fisher R, Flinter F, Foulds N, Fry A, Fryer A, Gardiner C, Gaunt L, Ghali N, Gibbons R, Gill H, Goodship J, Goudie D, Gray E, Green A, Greene P, Greenhalgh L, Gribble S, Harrison R, Harrison L, Harrison V, Hawkins R, He L, Hellens S, Henderson A, Hewitt S, Hildyard L, Hobson E, Holden S, Holder M, Holder S, Hollingsworth G, Homfray T, Humphreys M, Hurst J, Hutton B, Ingram S, Irving M, Islam L, Jackson A, Jarvis J, Jenkins L, Johnson D, Jones E, Josifova D, Joss S, Kaemba B, Kazembe S, Kelsell R, Kerr B, Kingston H, Kini U, Kinning E, Kirby G, Kirk C, Kivuva E, Kraus A, Kumar D, Kumar VKA, Lachlan K, Lam W, Lampe A, Langman C, Lees M, Lim D, Longman C, Lowther G, Lynch SA, Magee A, Maher E, Male A, Mansour S, Marks K, Martin K, Maye U, McCann E, McConnell V, McEntagart M, McGowan R, McKay K, McKee S, McMullan DJ, McNerlan S, McWilliam C, Mehta S, Metcalfe K, Middleton A, Miedzybrodzka Z, Miles E, Mohammed S, Montgomery T, Moore D, Morgan S, Morton J, Mugalaasi H, Murday V, Murphy H, Naik S, Nemeth A, Nevitt L, Norman A, O'Shea R, Ogilvie C, Ong KR, Park SM, Parker MJ, Patel C, Paterson J, Payne S, Perrett D, Phipps J, Pilz DT, Pollard M, Pottinger C, Poulton J, Pratt N, Prescott K, Pridham A, Procter A, Purnell H, Quarrell O, Ragge N, Rahbari R, Randall J, Raymond L, Rice D, Robert L, Roberts E, Roberts J, Roberts P, Roberts G, Ross A, Rosser E, Saggar A, Samant S, Sampson J, Sandford R, Sarkar A, Schweiger S, Scott R, Scurr I, Selby A, Seller A, Sequeira C, Shannon N, Sharif S, Shaw-Smith C, Shearing E, Shears D, Sheridan E, Simonic I, Singzon R, Skitt Z, Smith A, Smith K, Smithson S, Sneddon L, Splitt M, Squires M, Stewart F, Stewart H, Straub V, Suri M, Sutton V, Swaminathan GJ, Sweeney E, Tatton-Brown K, Taylor C, Taylor R, Tein M, Temple IK, Thomson J, Tischkowitz M, Tomkins S, Torokwa A, Treacy B, Turner C, Turnpenny P, Tysoe C, Vandersteen A, Varghese V, Vasudevan P, Vijayarangakannan P, Vogt J, Wakeling E, Wallwark S, Waters J, Weber A, Wellesley D, Whiteford M, Widaa S, Wilcox S, Wilkinson E, Williams D, Williams N, Wilson L, Woods G, Wragg C, Wright M, Yates L, Yau M, Nellaker C, Parker M, Firth HV, Wright CF, FitzPatrick DR, Barrett JC, Hurles ME, DDD study:(2019)CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)Nat Commun. 2019;10():
• Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Ounap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietiläinen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E, DDD study , Sticht H, Gregor A, Van Esch H, Zweier C:(2019)CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.Genet Med. 2019;21(12): 2723-2733
• Sinibaldi L, Parisi V, Lanciotti S, Fontana P, Kuechler A, Baujat G, Torres B, Koetting J, Splendiani A, Postorivo D, Beygo J, Garaci FG, Malan V, Lüdecke HJ, Guida V, Krumbiegel M, Lonardo F, Novelli A, Albrecht B, Perria C, Scarano G, Spielmann M, Nardone AM, Battaglia A, Brancati F, Bernardini L:(2019)Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.Clin Genet. 2019;96(3): 246-253
• Jitschin R, Böttcher M, Saul D, Lukassen S, Bruns H, Loschinski R, Ekici AB, Reis A, Mackensen A, Mougiakakos D:(2019)Inflammation-induced glycolytic switch controls suppressivity of mesenchymal stem cells via STAT1 glycosylation.Leukemia. 2019;33(7): 1783-1796
• Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, Campbell C, Sanlaville D, Lefroy H, Richetin S, Pain A, Geneviève D, Kini U, Le Caignec C, Lespinasse J, Skytte AB, Isidor B, Zweier C, Caberg JH, Delrue MA, Møller RS, Bojesen A, Hjalgrim H, Brasch-Andersen C, Lemyre E, Ousager LB, Jacquemont S, 15q11.2 Working Group , Andrieux J, Barnicoat A, Blanchet P, Blesson S, Bütschi FN, Campeau PM, Chelloug N, Debray FG, Fellmann F, Ferrarini A, Gibbons R, Gregersen PA, Hoyer J, Hüffmeier U, Kjelgaard D, Krumbiegel M, Lebon S, Lesca G, Marignier S, Mercier S, Michaud J, Mitchell G, Mortemousque I, Møller RS, Nizon M, Pierquin G, Sørensen KP, Price S, Pujol PH, Ramaekers V, Raynaud M, Reis A, Rossi M, Sarda P, Stanzial F, Stewart H, Svaneby D, Theil CT, Till M, Trakadis Y, Ville D, Vonwill S, Wilkie A, Wiessner A:(2019)Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.J Med Genet. 2019;56(10): 701-710
• Namer B, Schmidt D, Eberhardt E, Maroni M, Dorfmeister E, Kleggetveit IP, Kaluza L, Meents J, Gerlach A, Lin Z, Winterpacht A, Dragicevic E, Kohl Z, Schüttler J, Kurth I, Warncke T, Jorum E, Winner B, Lampert A:(2019)Pain relief in a neuropathy patient by lacosamide: Proof of principle of clinical translation from patient-specific iPS cell-derived nociceptors.EBioMedicine. 2019;39(): 401-408
• Gombert S, Rhein M, Winterpacht A, Münster T, Hillemacher T, Leffler A, Frieling H:(2019)Transient receptor potential ankyrin 1 promoter methylation and peripheral pain sensitivity in Crohn's disease.Clin Epigenetics. 2019;12(1):
• Türk M, Nagel AM, Roemer F, Schlötzer-Schrehardt U, Thiel CT, Winterholler M, Schröder R:(2019)Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report.BMC Musculoskelet Disord. 2019;20(1):
• Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM:(2019)PEDIA: prioritization of exome data by image analysis.Genet Med. 2019;21(12): 2807-2814
• Borggraefe I, Tacke M, Gerstl L, Leiz S, Coras R, Blumcke I, Giese A, Ertl-Wagner B, Thiel CT, Noachtar S, Peraud A:(2019)Epilepsy surgery in the first months of life: a large type IIb focal cortical dysplasia causing neonatal drug-resistant epilepsy.Epileptic Disord. 2019;21(1): 122-127
• Lentsch E, Li L, Pfeffer S, Ekici AB, Taher L, Pilarsky C, Grützmann R:(2019)CRISPR/Cas9-Mediated Knock-Out of KrasG12D Mutated Pancreatic Cancer Cell Lines.Int J Mol Sci. 2019;20(22):
• Schacher NM, Raaz-Schrauder D, Pasutto F, Stumpfe FM, Tauchi M, Dietel B, Achenbach S, Urschel K:(2019)Impact of single nucleotide polymorphisms in the VEGFR2 gene on endothelial cell activation under non‑uniform shear stress.Int J Mol Med. 2019;44(4): 1366-1376
• Bonnemaijer PWM, Leeuwen EMV, Iglesias AI, Gharahkhani P, Vitart V, Khawaja AP, Simcoe M, Höhn R, Cree AJ, Igo RP, International Glaucoma Genetics Consortium , NEIGHBORHOOD consortium , UK Biobank Eye and Vision Consortium , Gerhold-Ay A, Nickels S, Wilson JF, Hayward C, Boutin TS, Polašek O, Aung T, Khor CC, Amin N, Lotery AJ, Wiggs JL, Cheng CY, Hysi PG, Hammond CJ, Thiadens AAHJ, MacGregor S, Klaver CCW, Duijn CMV, Burdon KP, Craig JE, Hewitt AW, Jonas J, Khor CC, Pasutto F, Mackey DA, Mitchell P, Mishra A, Pang C, Pasquale LR, Springelkamp H, Thorleifsson G, Thorsteinsdottir U, Viswanathan AC, Wojciechowski R, Wong T, Young TL, Zeller T, Allingham R, Budenz D, Bailey JC, Fingert J, Gaasterland D, Gaasterland T, Haines JL, Hark L, Hauser M, Kang JH, Kraft P, Lee R, Lichter P, Liu Y, Moroi S, Pasquale LR, Pericak M, Realini A, Rhee D, Richards JR, Ritch R, Scott WK, Singh K, Sit A, Vollrath D, Weinreb R, Wollstein G, Wilmer DZ, Atan D, Aslam T, Barman SA, Barrett JH, Bishop P, Blows P, Bunce C, Carare RO, Chakravarthy U, Chan M, Chua SYL, Crabb DP, Cumberland PM, Day A, Desai P, Dhillon B, Dick AD, Egan C, Ennis S, Foster P, Fruttiger M, Gallacher JEJ, Garway DF, Gibson J, Dan Gore , Guggenheim JA, Hardcastle A, Harding SP, Hogg RE, Keane PA, Khaw PT, Lascaratos G, Macgillivray T, Mackie S, Martin K, McGaughey M, McGuinness B, McKay GJ, McKibbin M, Mitry D, Moore T, Morgan JE, Muthy ZA, O'Sullivan E, Owen CG, Patel P, Paterson E, Peto T, Petzold A, Rahi JS, Rudnikca AR, Self J, Sivaprasad S, Steel D, Stratton I, Strouthidis N, Sudlow C, Thomas D, Trucco E, Tufail A, Vernon SA, Viswanathan AC, Williams C, Williams K, Woodside JV, Yates MM, Yip J, Zheng Y:(2019)Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.Commun Biol. 2019;2(1):

Publications 2019

• Büttner C, Clahsen T, Regenfuss B, Dreisow ML, Steiber Z, Bock F, Reis A, Cursiefen C:(2019)Tyrosinase Is a Novel Endogenous Regulator of Developmental and Inflammatory Lymphangiogenesis.Am J Pathol. 2019;189(2): 440-448
• Tørring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibæk M, Laulund L, Illum N, Dunkhase-Heinl U, Wiesener A, Popp B, Marangi G, Hjortshøj TD, Ek J, Vogel I, Becher N, Roos L, Zollino M, Fagerberg CR:(2019)Is MED13L-related intellectual disability a recognizable syndrome?Eur J Med Genet. 2019;62(2): 129-136
• Hebebrand M, Vasileiou G, Krumbiegel M, Kraus C, Uebe S, Ekici AB, Thiel CT, Reis A, Popp B:(2019)A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.Am J Med Genet A. 2019;179(1): 50-56
• Mavaddat N, Michailidou K, Dennis J, Lush M, Fachal L, Lee A, Tyrer JP, Chen TH, Wang Q, Bolla MK, Yang X, Adank MA, Ahearn T, Aittomäki K, Allen J, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Auer PL, Auvinen P, Barrdahl M, Beane Freeman LE, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bernstein L, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Bremer M, Brenner H, Brentnall A, Brock IW, Brooks-Wilson A, Brucker SY, Brüning T, Burwinkel B, Campa D, Carter BD, Castelao JE, Chanock SJ, Chlebowski R, Christiansen H, Clarke CL, Collée JM, Cordina-Duverger E, Cornelissen S, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dörk T, dos-Santos-Silva I, Dumont M, Durcan L, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Engel C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Fletcher O, Flyger H, Försti A, Fritschi L, Gabrielson M, Gago-Dominguez M, Gapstur SM, García-Sáenz JA, Gaudet MM, Georgoulias V, Giles GG, Gilyazova IR, Glendon G, Goldberg MS, Goldgar DE, González-Neira A, Grenaker Alnæs GI, Grip M, Gronwald J, Grundy A, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hankinson SE, Harkness EF, Hart SN, He W, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Huang G, Humphreys K, Hunter DJ, Jakimovska M, Jakubowska A, Janni W, John EM, Johnson N, Jones ME, Jukkola-Vuorinen A, Jung A, Kaaks R, Kaczmarek K, Kataja V, Keeman R, Kerin MJ, Khusnutdinova E, Kiiski JI, Knight JA, Ko YD, Kosma VM, Koutros S, Kristensen VN, Krüger U, Kühl T, Lambrechts D, Le Marchand L, Lee E, Lejbkowicz F, Lilyquist J, Lindblom A, Lindström S, Lissowska J, Lo WY, Loibl S, Long J, Lubinski J, Lux MP, MacInnis RJ, Maishman T, Makalic E, Maleva Kostovska I, Mannermaa A, Manoukian S, Margolin S, Martens JWM, Martinez ME, Mavroudis D, McLean C, Meindl A, Menon U, Middha P, Miller N, Moreno F, Mulligan AM, Mulot C, Muñoz-Garzon VM, Neuhausen SL, Nevanlinna H, Neven P, Newman WG, Nielsen SF, Nordestgaard BG, Norman A, Offit K, Olson JE, Olsson H, Orr N, Pankratz VS, Park-Simon TW, Perez JIA, Pérez-Barrios C, Peterlongo P, Peto J, Pinchev M, Plaseska-Karanfilska D, Polley EC, Prentice R, Presneau N, Prokofyeva D, Purrington K, Pylkäs K, Rack B, Radice P, Rau-Murthy R, Rennert G, Rennert HS, Rhenius V, Robson M, Romero A, Ruddy KJ, Ruebner M, Saloustros E, Sandler DP, Sawyer EJ, Schmidt DF, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schumacher F, Schürmann P, Schwentner L, Scott C, Scott RJ, Seynaeve C, Shah M, Sherman ME, Shrubsole MJ, Shu XO, Slager S, Smeets A, Sohn C, Soucy P, Southey MC, Spinelli JJ, Stegmaier C, Stone J, Swerdlow AJ, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Thöne K, Tollenaar RAEM, Tomlinson I, Truong T, Tzardi M, Ulmer HU, Untch M, Vachon CM, van Veen EM, Vijai J, Weinberg CR, Wendt C, Whittemore AS, Wildiers H, Willett W, Winqvist R, Wolk A, Yang XR, Yannoukakos D, Zhang Y, Zheng W, Ziogas A, ABCTB Investigators , kConFab/AOCS Investigators , NBCS Collaborators , Dunning AM, Thompson DJ, Chenevix-Trench G, Chang-Claude J, Schmidt MK, Hall P, Milne RL, Pharoah PDP, Antoniou AC, Chatterjee N, Kraft P, García-Closas M, Simard J, Easton DF:(2019)Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.Am J Hum Genet. 2019;104(1): 21-34
• Scheibe K, Kersten C, Schmied A, Vieth M, Primbs T, Carlé B, Knieling F, Claussen J, Klimowicz AC, Zheng J, Baum P, Meyer S, Schürmann S, Friedrich O, Waldner MJ, Rath T, Wirtz S, Kollias G, Ekici AB, Atreya R, Raymond EL, Mbow ML, Neurath MF, Neufert C:(2019)Inhibiting Interleukin 36 Receptor Signaling Reduces Fibrosis in Mice With Chronic Intestinal Inflammation.Gastroenterology. 2019;156(4): 1082-1097.e11
• Hannemann N, Cao S, Eriksson D, Schnelzer A, Jordan J, Eberhardt M, Schleicher U, Rech J, Ramming A, Uebe S, Ekici A, Canete JD, Chen XX, Baeuerle T, Vera J, Bogdan C, Schett G, Bozec A:(2019)Transcription factor Fra-1 targets arginase-1 to enhance macrophage-mediated inflammation in arthritis.J Clin Invest. 2019;129(7): 2669-2684
• Dörk T, Peterlongo P, Mannermaa A, Bolla MK, Wang Q, Dennis J, Ahearn T, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Augustinsson A, Freeman LEB, Beckmann MW, Beeghly-Fadiel A, Behrens S, Bermisheva M, Blomqvist C, Bogdanova N, Bojesen SE, Brauch H, Brenner H, Burwinkel B, Canzian F, Chan TL, Chang-Claude J, Chanock SJ, Choi JY, Christiansen H, Clarke CL, Couch FJ, Czene K, Daly MB, dos-Santos-Silva I, Dwek M, Eccles DM, Ekici AB, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Fritschisl L, Gabrielson M, Gago-Dominguez M, Gao C, Gapstur SM, García-Closas M, Garcia-Saenz JA, Gaudet MM, Giles GG, Goldberg MS, Goldgar DE, Guénel P, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Hartman M, Hauke J, Hein A, Hillemanns P, Hogervorst FBL, Hooning MJ, Hopper JL, Howell T, Huo DZ, Ito H, Iwasaki M, Jakubowska A, Janni W, John EM, Jung A, Kaaks R, Kang D, Kapoor PM, Khusnutdinova E, Kim SW, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Kwon A, Lambrechts D, Le Marchand L, Li JM, Lindström S, Linet M, Lo WY, Long JR, Lophatananon A, Lubinski J, Manoochehri M, Manoukian S, Margolin S, Martinez E, Matsuo K, Mavroudis D, Meindl A, Menon U, Milne RL, Taib NAM, Muir K, Mulligan AM, Neuhausen SL, Nevanlinna H, Neven P, Newman WG, Offit K, Olopade OI, Olshan AF, Olson JE, Olsson H, Park SK, Park-Simon TW, Peto J, Plaseska-Karanfilska D, Pohl-Rescigno E, Presneau N, Rack B, Radice P, Rashid MU, Rennert G, Rennert HS, Romero A, Ruebner M, Saloustros E, Schmidt MK, Schmutzler RK, Schneider MO, Schoemaker MJ, Scott C, Shen CY, Shu XO, Simard J, Slager S, Smichkoska S, Southey MC, Spinelli JJ, Stone J, Surowy H, Swerdlow AJ, Tamimi RM, Tapper WJ, Teo SH, Terry MB, Toland AE, Tollenaar RAEM, Torres D, Torres-Mejia G, Troester MA, Truong T, Tsugane S, Untch M, Vachon CM, van den Ouweland AMW, van Veen EM, Vijai J, Wendt C, Wolk A, Yu JC, Zheng W, Ziogas A, Ziv E, Dunning AM, Pharoah PDP, Schindler D, Devilee P, Easton DF, Balleine R, Baxter R, Braye S, Carpenter J, Dahlstrom J, Forbes J, Lee CS, Marsh D, Morey A, Pathmanathan N, Scott R, Simpson P, Spigelman A, Wilcken N, Yip D, Zeps N, Borresen-Dale AL, Alnaes GIG, Sahlberg KK, Ottestad L, Kåresen R, Schlichting E, Holmen MM, Sauer T, Haakensen V, Engebråten O, Naume B, Fossa A, Kiserud CE, Reinertsen KV, Helland Å, Riis M, Geisler J, ABCTB Investigators NBCS Collaborators:(2019)Two truncating variants in FANCC and breast cancer riskSci Rep. 2019;9():
• Ruddy KJ, Schaid DJ, Partridge AH, Larson NB, Batzler A, Haeberle L, Dittrich R, Widschwendter P, Fink V, Bauer E, Schwitulla J, Ruebner M, Ekici AB, Aivazova-Fuchs V, Stewart EA, Beckmann MW, Ginsburg E, Wang LW, Weinshilboum RM, Couch FJ, Janni W, Rack B, Vachon C, Fasching PA:(2019)Genetic predictors of chemotherapy-related amenorrhea in women with breast cancer.Fertil Steril. 2019;112(4): 731-739.e1
• Buckley MA, Woods NT, Tyrer JP, Mendoza-Fandiño G, Lawrenson K, Hazelett DJ, Najafabadi HS, Gjyshi A, Carvalho RS, Lyra PC, Coetzee SG, Shen HC, Yang AW, Earp MA, Yoder SJ, Risch H, Chenevix-Trench G, Ramus SJ, Phelan CM, Coetzee GA, Noushmehr H, Hughes TR, Sellers TA, Goode EL, Pharoah PD, Gayther SA, Monteiro ANA, Chen YA, Fridley BL, Aben KKH, Kiemeney LA, Anton-Culver H, Ziogas A, Bruinsma F, Milne RL, Bandera EV, Giles GG, Bean YT, Pejovic T, Beckmann MW, Hein A, Bjorge L, Fasching PA, Thomsen LCV, Kopperud RK, Bischof K, Bogdanova N, Doek T, Hillemanns P, Brinton LA, Wentzensen N, Yang H, Brooks-Wilson A, Bunker CH, Butzow R, Nevanlinna H, Pelttari LM, Campbell IG, Southey MC, Modugno F, Carty K, Glasspool R, McNeish I, Paul J, Siddiqui N, Chang-Claude J, Rudolph A, Chang-Claude J, Cook LS, Cramer DW, Terry KL, Cunningham JM, Cybulski C, Gronwald J, Jakubowska A, Lubinski J, Dansonka-Mieszkowska A, Kupryjanczyk J, Rzepecka IK, du Bois A, Harter P, Dicks E, Song HL, Doherty JA, Rossing MA, Duerst M, Easton DF, Eccles DM, Edwards RP, Ekici AB, Fasching PA, Gao YT, Milne RL, Gentry-Maharaj A, Giles GG, Goodman MT, Thompson PJ, Hasmad HN, Teo SH, Hildebrandt MAT, Wu XF, Hogdall E, Jensen A, Kjaer SK, Hogdall E, Iversen ES, Karlan BY, Lester J, Orsulic S, Walsh CS, Kelley JL, Lambrechts D, Lambrechts S, Vergote I, Lee AW, Levine DA, Liang D, Lissowska J, Lu K, Lundvall L, Kjaer SK, Massuger LFAG, van Altena AM, Matsuo K, McGuire V, McLaughlin JR, Menon U, Moysich KB, Ness RB, Odunsi K, Olson SH, Orlow I, Pike MC, Pearce CL, Wu AH, Permuth JB, Tsai YY, Tworoger SS, Poole EM, Rosen B, Shu XO, Shvetsov YB, Wilkens LR, Sieh W, Spiewankiewicz B, Sucheston-Campbell L, Thomsen L, Wang-Gohrke S, Whittemore AS, Woo YL, Zheng W, Berchuck A, Chenevix-Trench G, Schildkraut JM, Kelemen LE, Freedman ML, Ovarian Canc Asso Consortium AOCS Management Grp:(2019)Functional Analysis and Fine Mapping of the 9p22.2 Ovarian Cancer Susceptibility LocusCancer Res. 2019;79(3): 467-481
• Culemann S, Grueneboom A, Angel Nicolas-Avila JA, Weidner D, Laemmle KF, Rothe T, Quintana JA, Kirchner P, Krljanac B, Eberhardt M, Ferrazzi F, Kretzschmar E, Schicht M, Fischer K, Gelse K, Faas M, Pfeifle R, Ackermann JA, Pachowsky M, Renner N, Simon D, Haseloff RF, Ekici AB, Baeuerle T, Blasig IE, Vera J, Voehringer D, Kleyer A, Paulsen F, Schett G, Hidalgo A, Kroenke G:(2019)Locally renewing resident synovial macrophages provide a protective barrier for the joint.Nature. 2019;572(7771): 670-675
• Zweier M, Begemann A, McWalter K, Cho MT, Abela L, Banka S, Behring B, Berger A, Brown CW, Carneiro M, Chen J, Cooper GM, Finnila CR, Sacoto MJG, Henderson A, Hueffmeier U, Joset P, Kerr B, Lesca G, Leszinski GS, McDermott JH, Meltzer MR, Monaghan KG, Mostafavi R, Ounap K, Plecko B, Powis Z, Purcarin G, Reimand T, Riedhammer KM, Schreiber JM, Sirsi D, Wierenga KJ, Wojcik MH, Papuc SM, Steindl K, Sticht H, Rauch A, DDD study:(2019)Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizuresEur J Hum Genet. 2019;27(): 1383-1384
• Gong B, Zhang H, Huang L, Chen Y, Shi Y, Tam PO, Zhu X, Huang Y, Lei B, Sundaresan P, Li X, Jiang L, Yang J, Lin Y, Lu F, Chen L, Li Y, Leung CK, Guo X, Zhang S, Huang G, Wu Y, Zhou T, Shuai P, Tham CC, Weisschuh N, Krishnadas SR, Mardin C, Reis A, Yang J, Zhang L, Zhou Y, Wang Z, Qu C, Shaw PX, Pang CP, Sun X, Zhu W, Li DY, Pasutto F, Yang Z:(2019)Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis.Genet Med. 2019;21(10): 2345-2354
• Cameron JM, Maljevic S, Nair U, Aung YH, Cogné B, Bezieau S, Blair E, Isidor B, Zweier C, Reis A, Koenig MK, Maarup T, Sarco D, Afenjar A, Huq AHMM, Kukolich M, de Villemeur TB, Nava C, Héron B, Petrou S, Berkovic SF:(2019)Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.Ann. Clin. Transl. Neurol.. 2019;6(7): 1263-1272
• Hauer NN, Popp B, Taher L, Vogl C, Dhandapany PS, Buettner C, Uebe S, Sticht H, Ferrazzi F, Ekici AB, De Luca A, Klinger P, Kraus C, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Rauch A, Wieczorek D, Jung AM, Rohrer TR, Zenker M, Doerr HG, Reis A, Thiel CT:(2019)Evolutionary conserved networks of human height identify multiple Mendelian causes of short statureEur J Hum Genet. 2019;27(7): 1061-1071
• Hellwig M, Lauffer MC, Bockmayr M, Spohn M, Merk DJ, Harrison L, Ahlfeld J, Kitowski A, Neumann JE, Ohli J, Holdhof D, Niesen J, Schoof M, Kool M, Kraus C, Zweier C, Holmberg D, Schueller U:(2019)TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastomaActa Neuropathol (Berl). 2019;137(4): 657-673
• Vasileiou G, Hoyer J, Thiel CT, Schaefer J, Zapke M, Krumbiegel M, Kraus C, Zweier M, Uebe S, Ekici AB, Schneider M, Wiesener M, Rauch A, Faschingbauer F, Reis A, Zweier C, Popp B:(2019)Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?Prenat Diagn. 2019;39(12): 1136-1147
• Popp B, Agaimy A, Kraus C, Knaup KX, Ekici AB, Uebe S, Reis A, Wiesener M, Zweier C:(2019)Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disabilityBMC Cancer. 2019;19():
• Zundler S, Becker E, Spocinska M, Slawik M, Parga-Vidal L, Stark R, Wiendl M, Atreya R, Rath T, Leppkes M, Hildner K, López-Posadas R, Lukassen S, Ekici AB, Neufert C, Atreya I, van Gisbergen KPJM, Neurath MF:(2019)Hobit- and Blimp-1-driven CD4(+) tissue-resident memory T cells control chronic intestinal inflammationNat Immunol. 2019;20(3): 288-+
• Diets IJ, Hoyer J, Ekici AB, Popp B, Hoogerbrugge N, van Reijmersdal SV, Bhaskaran R, Hadjihannas M, Vasileiou G, Thiel CT, Seven D, Uebe S, Ilencikova D, Waanders E, Mavinkurve-Groothuis AMC, Roeleveld N, de Krijger RR, Wegert J, Graf N, Vokuhl C, Agaimy A, Gessler M, Reis A, Kuiper RP, Jongmans MCJ, Metzler M:(2019)TRIM28 haploinsufficiency predisposes to Wilms tumor.Int J Cancer. 2019;145(4): 941-951
• Wohlfahrt T, Rauber S, Uebe S, Luber M, Soare A, Ekici A, Weber S, Matei AE, Chen CW, Maier C, Karouzakis E, Kiener HP, Pachera E, Dees C, Beyer C, Daniel C, Gelse K, Kremer AE, Naschberger E, Stürzl M, Butter F, Sticherling M, Finotto S, Kreuter A, Kaplan MH, Jüngel A, Gay S, Nutt SL, Boykin DW, Poon GMK, Distler O, Schett G, Distler JHW, Ramming A:(2019)PU.1 controls fibroblast polarization and tissue fibrosis.Nature. 2019;566(7744): 344-349
• Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SV, Pujol R, Kiiski JI, Muranen TA, Barnes DR, Dennis J, Michailidou K, Bolla MK, Leslie G, Aalfs CM, ABCTB Investigators , Adank MA, Adlard J, Agata S, Cadoo K, Agnarsson BA, Ahearn T, Aittomäki K, Ambrosone CB, Andrews L, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Arun BK, Asseryanis E, Auber B, Auvinen P, Azzollini J, Balmana J, Barkardottir RB, Barrowdale D, Barwell J, Beane Freeman LE, Beauparlant CJ, Beckmann MW, Behrens S, Benitez J, Berger R, Bermisheva M, Blanco AM, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Borg A, Brady AF, Brauch H, Brenner H, Brüning T, Burwinkel B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campa D, Campbell IG, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Claes KBM, Clarke CL, Collavoli A, Conner TA, Cox DG, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Ditsch N, Domchek SM, Dorfling CM, dos-Santos-Silva I, Durda K, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Foulkes WD, Friebel TM, Friedman E, Gabrielson M, Gaddam P, Gago-Dominguez M, Gao C, Gapstur SM, Garber J, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, GEMO Study Collaborators , Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, Guénel P, Gutierrez-Barrera AM, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hopper JL, Hosgood HD, Howell A, Hu C, Hulick PJ, Hunter DJ, Imyanitov EN, kConFab , Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John EM, Jones ME, Jung A, Kaaks R, Karlan BY, Khusnutdinova E, Kitahara CM, Konstantopoulou I, Koutros S, Kraft P, Lambrechts D, Lazaro C, Le Marchand L, Lester J, Lesueur F, Lilyquist J, Loud JT, Lu KH, Luben RN, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Maurer T, Mavroudis D, Mebirouk N, Meindl A, Menon U, Miller A, Montagna M, Nathanson KL, Neuhausen SL, Newman WG, Nguyen-Dumont T, Nielsen FC, Nielsen S, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Olshan AF, Olson JE, Olsson H, Osorio A, Ottini L, Peissel B, Peixoto A, Peto J, Plaseska-Karanfilska D, Pocza T, Presneau N, Pujana MA, Punie K, Rack B, Rantala J, Rashid MU, Rau-Murthy R, Rennert G, Lejbkowicz F, Rhenius V, Romero A, Rookus MA, Ross EA, Rossing M, Rudaitis V, Ruebner M, Saloustros E, Sanden K, Santamariña M, Scheuner MT, Schmutzler RK, Schneider M, Scott C, Senter L, Shah M, Sharma P, Shu XO, Simard J, Singer CF, Sohn C, Soucy P, Southey MC, Spinelli JJ, Steele L, Stoppa-Lyonnet D, Tapper WJ, Teixeira MR, Terry MB, Thomassen M, Thompson J, Thull DL, Tischkowitz M, Tollenaar RAEM, Torres D, Troester MA, Truong T, Tung N, Untch M, Vachon CM, van Rensburg EJ, van Veen EM, Vega A, Viel A, Wappenschmidt B, Weitzel JN, Wendt C, Wieme G, Wolk A, Yang XR, Zheng W, Ziogas A, Zorn KK, Dunning AM, Lush M, Wang Q, McGuffog L, Parsons MT, Pharoah PDP, Fostira F, Toland AE, Andrulis IL, Ramus SJ, Swerdlow AJ, Greene MH, Chung WK, Milne RL, Chenevix-Trench G, Dörk T, Schmidt MK, Easton DF, Radice P, Hahnen E, Antoniou AC, Couch FJ, Nevanlinna H, Surralles J, Peterlongo P, Balleine R, Baxter R, Braye S, Carpenter J, Dahlstrom J, Forbes J, Lee CS, Marsh D, Morey A, Pathmanathan N, Scott R, Simpson P, Spigelman A, Wilcken N, Yip D, Zeps N, Belotti M, Bertrand O, Birot AM, Buecher B, Caputo S, Dupré A, Fourme E, Gauthier-Villars M, Golmard L, Le Mentec M, Moncoutier V, de Pauw A, Saule C, Boutry-Kryza N, Calender A, Giraud S, Léone M, Bressac-de-Paillerets B, Caron O, Guillaud-Bataille M, Bignon YJ, Uhrhammer N, Bonadona V, Lasset C, Berthet P, Castera L, Vaur D, Bourdon V, Nogues C, Noguchi T, Popovici C, Remenieras A, Sobol H, Coupier I, Pujol P, Adenis C, Dumont A, Révillion F, Muller D, Barouk-Simonet E, Bonnet F, Bubien V, Longy M, Sevenet N, Gladieff L, Guimbaud R, Feillel V, Toulas C, Dreyfus H, Leroux CD, Peysselon M, Rebischung C, Legrand C, Baurand A, Bertolone G, Coron F, Faivre L, Jacquot C, Lizard S, Kientz C, Lebrun M, Prieur F, Fert-Ferrer S, Mari V, Vénat-Bouvet L, Bezieau S, Delnatte C, Mortemousque I, Colas C, Coulet F, Soubrier F, Warcoin M, Bronner M, Sokolowska J, Collonge-Rame MA, Damette A, Gesta P, Lallaoui H, Chiesa J, Molina-Gomes D, Ingster O, Manouvrier-Hanu S, Lejeune S, Aghmesheh M, Greening S, Amor D, Gattas M, Botes L, Buckley M, Friedlander M, Koehler J, Meiser B, Saleh M, Salisbury E, Trainer A, Tucker K, Antill Y, Dobrovic A, Fellows A, Fox S, Harris M, Nightingale S, Phillips K, Sambrook J, Thorne H, Armitage S, Arnold L, Balleine R, Kefford R, Kirk J, Rickard E, Bastick P, Beesley J, Hayward N, Spurdle A, Walker L, Beilby J, Saunders C, Bennett I, Blackburn A, Bogwitz M, Gaff C, Lindeman G, Pachter N, Scott C, Sexton A, Visvader J, Taylor J, Winship I, Brennan M, Brown M, French J, Edwards S, Burgess M, Burke J, Patterson B, Butow P, Culling B, Caldon L, Callen D, Chauhan D, Eisenbruch M, Heiniger L, Chauhan M, Christian A, Dixon J, Kidd A, Cohen P, Colley A, Fenton G, Crook A, Dickson R, Field M, Marsh D, Cui J, Cummings M, Dawson SJ, deFazio A, Delatycki M, Dudding T, Edkins T, Farshid G, Flanagan J, Fong P, Forrest L, Gallego-Ortega D, George P, Gill G, Kollias J, Haan E, Hart S, Jenkins M, Hunt C, Lakhani S, Lipton L, Lobb L, Mann G, McLachlan SA, O'Connell S, O'Sullivan S, Pieper E, Robinson B, Saunus J, Scott E, Scott R, Shelling A, Simpson P, Williams R, Young MA:(2019)The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.NPJ Breast Cancer. 2019;5():
• Escala-Garcia M, Guo Q, Dörk T, Canisius S, Keeman R, Dennis J, Beesley J, Lecarpentier J, Bolla MK, Wang Q, Abraham J, Andrulis IL, Anton-Culver H, Arndt V, Auer PL, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bernstein L, Blomqvist C, Boeckx B, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Brenner H, Brentnall A, Brinton L, Broberg P, Brock IW, Brucker SY, Burwinkel B, Caldas C, Caldes T, Campa D, Canzian F, Carracedo A, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Cheng TD, Chin SF, Clarke CL, NBCS Collaborators , Cordina-Duverger E, Couch FJ, Cox DG, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dunn JA, Dunning AM, Durcan L, Dwek M, Earl HM, Ekici AB, Eliassen AH, Ellberg C, Engel C, Eriksson M, Evans DG, Figueroa J, Flesch-Janys D, Flyger H, Gabrielson M, Gago-Dominguez M, Galle E, Gapstur SM, García-Closas M, García-Sáenz JA, Gaudet MM, George A, Georgoulias V, Giles GG, Glendon G, Goldgar DE, González-Neira A, Alnæs GIG, Grip M, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Hankinson S, Harkness EF, Harrington PA, Hart SN, Hartikainen JM, Hein A, Hillemanns P, Hiller L, Holleczek B, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Huang G, Humphreys K, Hunter DJ, Janni W, John EM, Jones ME, Jukkola-Vuorinen A, Jung A, Kaaks R, Kabisch M, Kaczmarek K, Kerin MJ, Khan S, Khusnutdinova E, Kiiski JI, Kitahara CM, Knight JA, Ko YD, Koppert LB, Kosma VM, Kraft P, Kristensen VN, Krüger U, Kühl T, Lambrechts D, Le Marchand L, Lee E, Lejbkowicz F, Li L, Lindblom A, Lindström S, Linet M, Lissowska J, Lo WY, Loibl S, Lubi?ski J, Lux MP, MacInnis RJ, Maierthaler M, Maishman T, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Mavroudis D, McLean C, Meindl A, Middha P, Miller N, Milne RL, Moreno F, Mulligan AM, Mulot C, Nassir R, Neuhausen SL, Newman WT, Nielsen SF, Nordestgaard BG, Norman A, Olsson H, Orr N, Pankratz VS, Park-Simon TW, Perez JIA, Pérez-Barrios C, Peterlongo P, Petridis C, Pinchev M, Prajzendanc K, Prentice R, Presneau N, Prokofieva D, Pylkäs K, Rack B, Radice P, Ramachandran D, Rennert G, Rennert HS, Rhenius V, Romero A, Roylance R, Saloustros E, Sawyer EJ, Schmidt DF, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schumacher F, Schwentner L, Scott RJ, Scott C, Seynaeve C, Shah M, Simard J, Smeets A, Sohn C, Southey MC, Swerdlow AJ, Talhouk A, Tamimi RM, Tapper WJ, Teixeira MR, Tengström M, Terry MB, Thöne K, Tollenaar RAEM, Tomlinson I, Torres D, Truong T, Turman C, Turnbull C, Ulmer HU, Untch M, Vachon C, van Asperen CJ, van den Ouweland AMW, van Veen EM, Wendt C, Whittemore AS, Willett W, Winqvist R, Wolk A, Yang XR, Zhang Y, Easton DF, Fasching PA, Nevanlinna H, Eccles DM, Pharoah PDP, Schmidt MK:(2019)Genome-wide association study of germline variants and breast cancer-specific mortality.Br J Cancer. 2019;120(6): 647-657
• Kiechle M, von Einem B, Höfs L, Voehringer P, Grozdanov V, Markx D, Parlato R, Wiesner D, Mayer B, Sakk O, Baumann B, Lukassen S, Liss B, Ekici AB, Ludolph AC, Walther P, Ferger B, McLean PJ, Falkenburger BH, Weishaupt JH, Danzer KM:(2019)In Vivo Protein Complementation Demonstrates Presynaptic α-Synuclein Oligomerization and Age-Dependent Accumulation of 8-16-mer Oligomer Species.Cell Rep. 2019;29(9): 2862-2874.e9
• Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B:(2019)The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.Orphanet J Rare Dis. 2019;14(1):
• Löhr S, Ekici AB, Uebe S, Büttner C, Köhm M, Behrens F, Böhm B, Sticherling M, Schett G, Simon D, Mössner R, Nimeh A, Oji V, Assmann G, Rech J, Holmdahl R, Burkhardt H, Reis A, Hüffmeier U:(2019)Analyses of association of psoriatic arthritis and psoriasis vulgaris with functional NCF1 variants.Rheumatology (Oxford). 2019;58(5): 915-917
• Hueffmeier UD, Sticht H, Wenzel J, Wilsmann-Theis D, Wolff K, Loehr S, Frey B, Hahn M, Ekici AB, Uebe S, Thiel C, Reis A, Prinz J, Oji V, Schulz P, Kingo K, Koks S, Moessner R, Munoz L, Kremer AE, Frey S:(2019)Rare frameshift mutation in SERPINA3 contributes to generalized pustular psoriasisEur J Hum Genet. 2019;27(): 1366-1367
• Hueffmeier UD, Loehr S, Ekici AB, Uebe S, Koehm M, Behrens F, Boehm B, Sticherling M, Schett G, Moessner R, Nimeh A, Assmann G, Rech J, Oji V, Holmdahl R, Burkhardt H, Reis A:(2019)Association analyses of functional NCF1 variants in psoriatic arthritis and psoriasis vulgarisEur J Hum Genet. 2019;27(): 125-125
• Fazzini F, Lamina C, Fendt L, Schultheiss UT, Kotsis F, Hicks AA, Meiselbach H, Weissensteiner H, Forer L, Krane V, Eckardt KU, Köttgen A, Kronenberg F, GCKD Investigators , Eckardt KU, Meiselbach H, Schneider M, Dienemann T, Prokosch HU, Bärthlein B, Beck A, Ganslandt T, Reis A, Ekici AB, Avendano S, Becker-Grosspitsch D, Alberth-Schmidt U, Hausknecht B, Zitzmann R, Weigel A, Walz G, Köttgen A, Schultheiß U, Kotsis F, Meder S, Mitsch E, Reinhard U, Floege J, Schlieper G, Saritas T, Ernst S, Beaujean N, Schaeffner E, Baid-Agrawal S, Theisen K, Haller H, Menne J, Zeier M, Sommerer C, Woitke R, Wolf G, Busch M, Fuß R, Sitter T, Blank C, Wanner C, Krane V, Börner-Klein A, Bauer B, Kronenberg F, Raschenberger J, Kollerits B, Forer L, Schönherr S, Weissensteiner H, Oefner P, Gronwald W, Zacharias H, Schmid M, Nadal J:(2019)Mitochondrial DNA copy number is associated with mortality and infections in a large cohort of patients with chronic kidney disease.Kidney Int. 2019;96(2): 480-488
• Zundler S, Becker E, Spocinska M, Slawik M, Parga-Vidal L, Stark R, Wiendl M, Atreya R, Rath T, Leppkes M, Hildner K, López-Posadas R, Lukassen S, Ekici AB, Neufert C, Atreya I, van Gisbergen KPJM, Neurath MF:(2019)Hobit- and Blimp-1-driven CD4(+) tissue-resident memory T cells control chronic intestinal inflammation (vol 20, pg 288, 2019)Nat Immunol. 2019;20(4): 514-514
• Zweier C:(2019)Report 2018 of the Syndrome Day CommitteeMed. Genet.. 2019;31(1): 36-36
• Fenckova M, Blok LER, Asztalos L, Goodman DP, Cizek P, Singgih EL, Glennon JC, IntHout J, Zweier C, Eichler EE, von Reyn CR, Bernier RA, Asztalos Z, Schenck A:(2019)Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum DisordersBiol Psychiatry. 2019;86(4): 294-305
• Schrauder MG, Brunel-Geuder L, Haeberle L, Wunderle M, Hoyer J, Csorba R, Reis A, Schulz-Wendtland R, Beckmann MW, Lux MP:(2019)Cost effectiveness of bilateral risk-reducing mastectomy and salpingo-oophorectomyEur J Med Res. 2019;24(1):
• Abicht A, Neuhann T, Mehnert L, Rost I, Reis A, Zweier C, Holinski-Feder E:(2019)Diagnostics of rare diseases with next generation sequencing-arrived at the patients or rejected?Med. Genet.. 2019;31(3): 335-343
• Berner D, Hoja U, Zenkel M, Ross JJ, Uebe S, Paoli D, Frezzotti P, Rautenbach RM, Ziskind A, Williams SE, Carmichael TR, Ramsay M, Topouzis F, Chatzikyriakidou A, Lambropoulos A, Sundaresan P, Ayub H, Akhtar F, Qamar R, Zenteno JC, Cruz-Aguilar M, Astakhov YS, Dubina M, Wiggs J, Ozaki M, Kruse FE, Aung T, Reis A, Khor CC, Pasutto F, Schlötzer-Schrehardt U:(2019)The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome.Hum Mol Genet. 2019;28(15): 2531-2548
• Turan S, Boerstler T, Kavyanifar A, Loskarn S, Reis A, Winner B, Lie DC:(2019)A novel human stem cell model for Coffin-Siris syndrome-like syndrome reveals the importance of SOX11 dosage for neuronal differentiation and survivalHum Mol Genet. 2019;28(15): 2589-2599
• Menzel-Severing J, Meiller R, Kraus C, Trollmann R, Atalay D:(2019)Brittle cornea syndrome type 1 caused by compound heterozygosity of two mutations in the ZNF469 geneOphthalmologe. 2019;116(8): 780-784
• Bastian L, Schroeder MP, Eckert C, Schlee C, Tanchez JO, Kaempf S, Wagner DL, Schulze V, Isaakidis K, Lazaro-Navarro J, Haenzelmann S, James AR, Ekici A, Burmeister T, Schwartz S, Schrappe M, Horstmann M, Vosberg S, Krebs S, Blum H, Hecht J, Greif PA, Rieger MA, Brueggemann M, Goekbuget N, Neumann M, Baldus CD:(2019)PAX5 biallelic genomic alterations define a novel subgroup of B-cell precursor acute lymphoblastic leukemiaLeukemia. 2019;33(8): 1895-1909
• Iqbal Z, Tawamie H, Ba W, Reis A, Al Halak B, Sticht H, Uebe S, Kasri NN, Riazuddin S, van Bokhoven H, Abou Jamra R:(2019)Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotoniaGenet Med. 2019;21(8): 1790-1796
• Berner D, Hoja U, Zenkel M, Pasutto F, Lee MC, Aung T, Khor CC, Reis A, Kruse FE, Schlötzer-Schrehardt U:(2019)Functional implication of the pseudoexfoliation-associated rare variant p.Y407F at LOXL1Invest Ophthalmol Vis Sci. 2019;60(9):
• Clahsen T, Buettner C, Regenfuss B, Gabriel T, Bock F, Reis A, Cursiefen C:(2019)Tyrosinase is a novel endogenous inhibitor of lymphangiogenesisInvest Ophthalmol Vis Sci. 2019;60(9):
• Hirbo J, Pasutto F, Pawar P, Sealock J, Evans P, Gamazon E, Tao R, Reis A, Berner D, Schlötzer-Schrehardt U, Brantley MA, Khor CC, Cox N, Joos KM:(2019)Identifying Genes that Underlie Exfoliation Syndrome using Genetically Determined Gene ExpressionInvest Ophthalmol Vis Sci. 2019;60(9):
• Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, Van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM, Mcrae JF, Clayton S, Fitzgerald TW, Kaplanis J, Prigmore E, Rajan D, Sifrim A, Aitken S, Akawi N, Alvi M, Ambridge K, Barrett DM, Bayzetinova T, Jones P, Jones WD, King D, Krishnappa N, Mason LE, Singh T, Tivey AR, Ahmed M, Anjum U, Archer H, Armstrong R, Awada J, Balasubramanian M, Banka S, Baralle D, Barnicoat A, Batstone P, Baty D, Bennett C, Berg J, Bernhard B, Bevan AP, Bitner-Glindzicz M, Blair E, Blyth M, Bohanna D, Bourdon L, Bourn D, Bradley L, Brady A, Brent S, Brewer C, Brunstrom K, Bunyan DJ, Burn J, Canham N, Castle B, Chandler K, Chatzimichali E, Cilliers D, Clarke A, Clasper S, Clayton-Smith J, Clowes V, Coates A, Cole T, Colgiu I, Collins A, Collinson MN, Connell F, Cooper N, Cox H, Cresswell L, Cross G, Crow Y, D'Alessandro M, Dabir T, Davidson R, Davies S, de Vries D, Dean J, Deshpande C, Devlin G, Dixit A, Dobbie A, Donaldson A, Donnai D, Donnelly D, Donnelly C, Douglas A, Douzgou S, Duncan A, Eason J, Ellard S, Ellis I, Elmslie F, Evans K, Everest S, Fendick T, Fisher R, Flinter F, Foulds N, Fry A, Fryer A, Gardiner C, Gaunt L, Ghali N, Gibbons R, Gill H, Goodship J, Goudie D, Gray E, Green A, Greene P, Greenhalgh L, Gribble S, Harrison R, Harrison L, Harrison V, Hawkins R, He L, Hellens S, Henderson A, Hewitt S, Hildyard L, Hobson E, Holden S, Holder M, Holder S, Hollingsworth G, Homfray T, Humphreys M, Hurst J, Hutton B, Ingram S, Irving M, Islam L, Jackson A, Jarvis J, Jenkins L, Johnson D, Jones E, Josifova D, Joss S, Kaemba B, Kazembe S, Kelsell R, Kerr B, Kingston H, Kini U, Kinning E, Kirby G, Kirk C, Kivuva E, Kraus A, Kumar D, Kumar VKA, Lachlan K, Lam W, Lampe A, Langman C, Lees M, Lim D, Longman C, Lowther G, Lynch SA, Magee A, Maher E, Male A, Mansour S, Marks K, Martin K, Maye U, McCann E, McConnell V, McEntagart M, McGowan R, McKay K, McKee S, McMullan DJ, McNerlan S, McWilliam C, Mehta S, Metcalfe K, Middleton A, Miedzybrodzka Z, Miles E, Mohammed S, Montgomery T, Moore D, Morgan S, Morton J, Mugalaasi H, Murday V, Murphy H, Naik S, Nemeth A, Nevitt L, Norman A, O'Shea R, Ogilvie C, Ong KR, Park SM, Parker MJ, Patel C, Paterson J, Payne S, Perrett D, Phipps J, Pilz DT, Pollard M, Pottinger C, Poulton J, Pratt N, Prescott K, Pridham A, Procter A, Purnell H, Quarrell O, Ragge N, Rahbari R, Randall J, Raymond L, Rice D, Robert L, Roberts E, Roberts J, Roberts P, Roberts G, Ross A, Rosser E, Saggar A, Samant S, Sampson J, Sandford R, Sarkar A, Schweiger S, Scott R, Scurr I, Selby A, Seller A, Sequeira C, Shannon N, Sharif S, Shaw-Smith C, Shearing E, Shears D, Sheridan E, Simonic I, Singzon R, Skitt Z, Smith A, Smith K, Smithson S, Sneddon L, Splitt M, Squires M, Stewart F, Stewart H, Straub V, Suri M, Sutton V, Swaminathan GJ, Sweeney E, Tatton-Brown K, Taylor C, Taylor R, Tein M, Temple IK, Thomson J, Tischkowitz M, Tomkins S, Torokwa A, Treacy B, Turner C, Turnpenny P, Tysoe C, Vandersteen A, Varghese V, Vasudevan P, Vijayarangakannan P, Vogt J, Wakeling E, Wallwark S, Waters J, Weber A, Wellesley D, Whiteford M, Widaa S, Wilcox S, Wilkinson E, Williams D, Williams N, Wilson L, Woods G, Wragg C, Wright M, Yates L, Yau M, Nellaker C, Parker M, Firth HV, Wright CF, FitzPatrick DR, Barrett JC, Hurles ME, DDD study:(2019)CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)Nat Commun. 2019;10():
• Coll-Tane M, Krebbers A, Castells-Nobau A, Zweier C, Schenck A:(2019)Intellectual disability and autism spectrum disorders 'on the fly': insights from DrosophilaDis Model Mech. 2019;12(5):
• Zweier M, Begemann A, McWalter K, Cho MT, Abela L, Banka S, Behring B, Berger A, Brown CW, Carneiro M, Chen J, Cooper GM, Deciphering Developmental Disorders (DDD) Study , Finnila CR, Guillen Sacoto MJ, Henderson A, Hüffmeier U, Joset P, Kerr B, Lesca G, Leszinski GS, McDermott JH, Meltzer MR, Monaghan KG, Mostafavi R, Ounap K, Plecko B, Powis Z, Purcarin G, Reimand T, Riedhammer KM, Schreiber JM, Sirsi D, Wierenga KJ, Wojcik MH, Papuc SM, Steindl K, Sticht H, Rauch A:(2019)Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.Eur J Hum Genet. 2019;27(5): 747-759
• Hansen M, Peltier J, Killy B, Amin B, Bodendorfer B, Hartlova A, Uebel S, Bosmann M, Hofmann J, Buettner C, Ekici AB, Kuttke M, Franzyk H, Foged C, Beer-Hammer S, Schabbauer G, Trost M, Lang R:(2019)Macrophage Phosphoproteome Analysis Reveals MINCLE-dependent and -independent Mycobacterial Cord Factor SignalingMol Cell Proteomics. 2019;18(4): 669-685
• Tiosano D, Baris HN, Chen A, Hitzert MM, Schueler M, Gulluni F, Wiesener A, Bergua A, Mory A, Copeland B, Gleeson JG, Rump P, van Meer H, Sival DA, Haucke V, Kriwinsky J, Knaup KX, Reis A, Hauer NN, Hirsch E, Roepman R, Pfundt R, Thiel CT, Wiesener MS, Aslanyan MG, Buchner DA:(2019)Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.PLoS Genet. 2019;15(4):
• Siggs OM, Souzeau E, Pasutto F, Dubowsky A, Smith JEH, Taranath D, Pater J, Rait JL, Narita A, Mauri L, Del Longo A, Reis A, Chappell A, Kearns LS, Staffieri SE, Elder JE, Ruddle JB, Hewitt AW, Burdon KP, Mackey DA, Craig JE:(2019)Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital GlaucomaJAMA Ophthalmol. 2019;137(4): 348-355
• Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC:(2019)Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statementClin Genet. 2019;95(4): 462-478
• Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, Van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM, Mcrae JF, Clayton S, Fitzgerald TW, Kaplanis J, Prigmore E, Rajan D, Sifrim A, Aitken S, Akawi N, Alvi M, Ambridge K, Barrett DM, Bayzetinova T, Jones P, Jones WD, King D, Krishnappa N, Mason LE, Singh T, Tivey AR, Ahmed M, Anjum U, Archer H, Armstrong R, Awada J, Balasubramanian M, Banka S, Baralle D, Barnicoat A, Batstone P, Baty D, Bennett C, Berg J, Bernhard B, Bevan AP, Bitner-Glindzicz M, Blair E, Blyth M, Bohanna D, Bourdon L, Bourn D, Bradley L, Brady A, Brent S, Brewer C, Brunstrom K, Bunyan DJ, Burn J, Canham N, Castle B, Chandler K, Chatzimichali E, Cilliers D, Clarke A, Clasper S, Clayton-Smith J, Clowes V, Coates A, Cole T, Colgiu I, Collins A, Collinson MN, Connell F, Cooper N, Cox H, Cresswell L, Cross G, Crow Y, D'Alessandro M, Dabir T, Davidson R, Davies S, de Vries D, Dean J, Deshpande C, Devlin G, Dixit A, Dobbie A, Donaldson A, Donnai D, Donnelly D, Donnelly C, Douglas A, Douzgou S, Duncan A, Eason J, Ellard S, Ellis I, Elmslie F, Evans K, Everest S, Fendick T, Fisher R, Flinter F, Foulds N, Fry A, Fryer A, Gardiner C, Gaunt L, Ghali N, Gibbons R, Gill H, Goodship J, Goudie D, Gray E, Green A, Greene P, Greenhalgh L, Gribble S, Harrison R, Harrison L, Harrison V, Hawkins R, He L, Hellens S, Henderson A, Hewitt S, Hildyard L, Hobson E, Holden S, Holder M, Holder S, Hollingsworth G, Homfray T, Humphreys M, Hurst J, Hutton B, Ingram S, Irving M, Islam L, Jackson A, Jarvis J, Jenkins L, Johnson D, Jones E, Josifova D, Joss S, Kaemba B, Kazembe S, Kelsell R, Kerr B, Kingston H, Kini U, Kinning E, Kirby G, Kirk C, Kivuva E, Kraus A, Kumar D, Kumar VKA, Lachlan K, Lam W, Lampe A, Langman C, Lees M, Lim D, Longman C, Lowther G, Lynch SA, Magee A, Maher E, Male A, Mansour S, Marks K, Martin K, Maye U, McCann E, McConnell V, McEntagart M, McGowan R, McKay K, McKee S, McMullan DJ, McNerlan S, McWilliam C, Mehta S, Metcalfe K, Middleton A, Miedzybrodzka Z, Miles E, Mohammed S, Montgomery T, Moore D, Morgan S, Morton J, Mugalaasi H, Murday V, Murphy H, Naik S, Nemeth A, Nevitt L, Norman A, O'Shea R, Ogilvie C, Ong KR, Park SM, Parker MJ, Patel C, Paterson J, Payne S, Perrett D, Phipps J, Pilz DT, Pollard M, Pottinger C, Poulton J, Pratt N, Prescott K, Pridham A, Procter A, Purnell H, Quarrell O, Ragge N, Rahbari R, Randall J, Raymond L, Rice D, Robert L, Roberts E, Roberts J, Roberts P, Roberts G, Ross A, Rosser E, Saggar A, Samant S, Sampson J, Sandford R, Sarkar A, Schweiger S, Scott R, Scurr I, Selby A, Seller A, Sequeira C, Shannon N, Sharif S, Shaw-Smith C, Shearing E, Shears D, Sheridan E, Simonic I, Singzon R, Skitt Z, Smith A, Smith K, Smithson S, Sneddon L, Splitt M, Squires M, Stewart F, Stewart H, Straub V, Suri M, Sutton V, Swaminathan GJ, Sweeney E, Tatton-Brown K, Taylor C, Taylor R, Tein M, Temple IK, Thomson J, Tischkowitz M, Tomkins S, Torokwa A, Treacy B, Turner C, Turnpenny P, Tysoe C, Vandersteen A, Varghese V, Vasudevan P, Vijayarangakannan P, Vogt J, Wakeling E, Wallwark S, Waters J, Weber A, Wellesley D, Whiteford M, Widaa S, Wilcox S, Wilkinson E, Williams D, Williams N, Wilson L, Woods G, Wragg C, Wright M, Yates L, Yau M, Nellaker C, Parker M, Firth HV, Wright CF, FitzPatrick DR, Barrett JC, Hurles ME, DDD study:(2019)CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)Nat Commun. 2019;10():
• Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Ounap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietiläinen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E, DDD study , Sticht H, Gregor A, Van Esch H, Zweier C:(2019)CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.Genet Med. 2019;21(12): 2723-2733
• Sinibaldi L, Parisi V, Lanciotti S, Fontana P, Kuechler A, Baujat G, Torres B, Koetting J, Splendiani A, Postorivo D, Beygo J, Garaci FG, Malan V, Lüdecke HJ, Guida V, Krumbiegel M, Lonardo F, Novelli A, Albrecht B, Perria C, Scarano G, Spielmann M, Nardone AM, Battaglia A, Brancati F, Bernardini L:(2019)Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.Clin Genet. 2019;96(3): 246-253
• Jitschin R, Böttcher M, Saul D, Lukassen S, Bruns H, Loschinski R, Ekici AB, Reis A, Mackensen A, Mougiakakos D:(2019)Inflammation-induced glycolytic switch controls suppressivity of mesenchymal stem cells via STAT1 glycosylation.Leukemia. 2019;33(7): 1783-1796
• Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, Campbell C, Sanlaville D, Lefroy H, Richetin S, Pain A, Geneviève D, Kini U, Le Caignec C, Lespinasse J, Skytte AB, Isidor B, Zweier C, Caberg JH, Delrue MA, Møller RS, Bojesen A, Hjalgrim H, Brasch-Andersen C, Lemyre E, Ousager LB, Jacquemont S, 15q11.2 Working Group , Andrieux J, Barnicoat A, Blanchet P, Blesson S, Bütschi FN, Campeau PM, Chelloug N, Debray FG, Fellmann F, Ferrarini A, Gibbons R, Gregersen PA, Hoyer J, Hüffmeier U, Kjelgaard D, Krumbiegel M, Lebon S, Lesca G, Marignier S, Mercier S, Michaud J, Mitchell G, Mortemousque I, Møller RS, Nizon M, Pierquin G, Sørensen KP, Price S, Pujol PH, Ramaekers V, Raynaud M, Reis A, Rossi M, Sarda P, Stanzial F, Stewart H, Svaneby D, Theil CT, Till M, Trakadis Y, Ville D, Vonwill S, Wilkie A, Wiessner A:(2019)Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.J Med Genet. 2019;56(10): 701-710
• Namer B, Schmidt D, Eberhardt E, Maroni M, Dorfmeister E, Kleggetveit IP, Kaluza L, Meents J, Gerlach A, Lin Z, Winterpacht A, Dragicevic E, Kohl Z, Schüttler J, Kurth I, Warncke T, Jorum E, Winner B, Lampert A:(2019)Pain relief in a neuropathy patient by lacosamide: Proof of principle of clinical translation from patient-specific iPS cell-derived nociceptors.EBioMedicine. 2019;39(): 401-408
• Gombert S, Rhein M, Winterpacht A, Münster T, Hillemacher T, Leffler A, Frieling H:(2019)Transient receptor potential ankyrin 1 promoter methylation and peripheral pain sensitivity in Crohn's disease.Clin Epigenetics. 2019;12(1):
• Türk M, Nagel AM, Roemer F, Schlötzer-Schrehardt U, Thiel CT, Winterholler M, Schröder R:(2019)Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report.BMC Musculoskelet Disord. 2019;20(1):
• Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM:(2019)PEDIA: prioritization of exome data by image analysis.Genet Med. 2019;21(12): 2807-2814
• Borggraefe I, Tacke M, Gerstl L, Leiz S, Coras R, Blumcke I, Giese A, Ertl-Wagner B, Thiel CT, Noachtar S, Peraud A:(2019)Epilepsy surgery in the first months of life: a large type IIb focal cortical dysplasia causing neonatal drug-resistant epilepsy.Epileptic Disord. 2019;21(1): 122-127
• Lentsch E, Li L, Pfeffer S, Ekici AB, Taher L, Pilarsky C, Grützmann R:(2019)CRISPR/Cas9-Mediated Knock-Out of KrasG12D Mutated Pancreatic Cancer Cell Lines.Int J Mol Sci. 2019;20(22):
• Schacher NM, Raaz-Schrauder D, Pasutto F, Stumpfe FM, Tauchi M, Dietel B, Achenbach S, Urschel K:(2019)Impact of single nucleotide polymorphisms in the VEGFR2 gene on endothelial cell activation under non‑uniform shear stress.Int J Mol Med. 2019;44(4): 1366-1376
• Bonnemaijer PWM, Leeuwen EMV, Iglesias AI, Gharahkhani P, Vitart V, Khawaja AP, Simcoe M, Höhn R, Cree AJ, Igo RP, International Glaucoma Genetics Consortium , NEIGHBORHOOD consortium , UK Biobank Eye and Vision Consortium , Gerhold-Ay A, Nickels S, Wilson JF, Hayward C, Boutin TS, Polašek O, Aung T, Khor CC, Amin N, Lotery AJ, Wiggs JL, Cheng CY, Hysi PG, Hammond CJ, Thiadens AAHJ, MacGregor S, Klaver CCW, Duijn CMV, Burdon KP, Craig JE, Hewitt AW, Jonas J, Khor CC, Pasutto F, Mackey DA, Mitchell P, Mishra A, Pang C, Pasquale LR, Springelkamp H, Thorleifsson G, Thorsteinsdottir U, Viswanathan AC, Wojciechowski R, Wong T, Young TL, Zeller T, Allingham R, Budenz D, Bailey JC, Fingert J, Gaasterland D, Gaasterland T, Haines JL, Hark L, Hauser M, Kang JH, Kraft P, Lee R, Lichter P, Liu Y, Moroi S, Pasquale LR, Pericak M, Realini A, Rhee D, Richards JR, Ritch R, Scott WK, Singh K, Sit A, Vollrath D, Weinreb R, Wollstein G, Wilmer DZ, Atan D, Aslam T, Barman SA, Barrett JH, Bishop P, Blows P, Bunce C, Carare RO, Chakravarthy U, Chan M, Chua SYL, Crabb DP, Cumberland PM, Day A, Desai P, Dhillon B, Dick AD, Egan C, Ennis S, Foster P, Fruttiger M, Gallacher JEJ, Garway DF, Gibson J, Dan Gore , Guggenheim JA, Hardcastle A, Harding SP, Hogg RE, Keane PA, Khaw PT, Lascaratos G, Macgillivray T, Mackie S, Martin K, McGaughey M, McGuinness B, McKay GJ, McKibbin M, Mitry D, Moore T, Morgan JE, Muthy ZA, O'Sullivan E, Owen CG, Patel P, Paterson E, Peto T, Petzold A, Rahi JS, Rudnikca AR, Self J, Sivaprasad S, Steel D, Stratton I, Strouthidis N, Sudlow C, Thomas D, Trucco E, Tufail A, Vernon SA, Viswanathan AC, Williams C, Williams K, Woodside JV, Yates MM, Yip J, Zheng Y:(2019)Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.Commun Biol. 2019;2(1):