Publikationen 2019

Humangenetik

Direktor:
Prof. Dr. med. André Reis

Publikationen 2019

  • 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 seizures Eur J Hum Genet. 2019;27(): 1383-1384
  • 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
  • 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 vulgaris Eur J Hum Genet. 2019;27(): 125-125
  • Coll-Tane M, Krebbers A, Castells-Nobau A, Zweier C, Schenck A: (2019) Intellectual disability and autism spectrum disorders 'on the fly': insights from Drosophila Dis Model Mech. 2019;12(5):
  • 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
  • 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):
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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 Signaling Mol Cell Proteomics. 2019;18(4): 669-685
  • 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 stature Eur J Hum Genet. 2019;27(7): 1061-1071
  • 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):
  • Zweier C: (2019) Report 2018 of the Syndrome Day Committee Med. 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 Disorders Biol Psychiatry. 2019;86(4): 294-305
  • 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):
  • 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 medulloblastoma Acta Neuropathol (Berl). 2019;137(4): 657-673
  • 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-oophorectomy Eur J Med Res. 2019;24(1):
  • 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 Glaucoma JAMA Ophthalmol. 2019;137(4): 348-355
  • 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
  • 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
  • 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 statement Clin Genet. 2019;95(4): 462-478
  • 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 disability BMC Cancer. 2019;19():
  • 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
  • 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
  • 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():
  • 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 Nat Immunol. 2019;20(3): 288-+
  • 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
  • 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 survival Hum Mol Genet. 2019;28(15): 2589-2599
  • 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
  • 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
  • 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
  • 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 gene Ophthalmologe. 2019;116(8): 780-784
  • 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
  • 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
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  • 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 Expression Invest Ophthalmol Vis Sci. 2019;60(9):
  • 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):
  • 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
  • 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 Locus Cancer 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
  • 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():
  • 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
  • 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 psoriasis Eur J Hum Genet. 2019;27(): 1366-1367

Publications 2019

  • 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 seizures Eur J Hum Genet. 2019;27(): 1383-1384
  • 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
  • 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 vulgaris Eur J Hum Genet. 2019;27(): 125-125
  • Coll-Tane M, Krebbers A, Castells-Nobau A, Zweier C, Schenck A: (2019) Intellectual disability and autism spectrum disorders 'on the fly': insights from Drosophila Dis Model Mech. 2019;12(5):
  • 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
  • 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):
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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 Signaling Mol Cell Proteomics. 2019;18(4): 669-685
  • 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 stature Eur J Hum Genet. 2019;27(7): 1061-1071
  • 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):
  • Zweier C: (2019) Report 2018 of the Syndrome Day Committee Med. 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 Disorders Biol Psychiatry. 2019;86(4): 294-305
  • 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):
  • 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 medulloblastoma Acta Neuropathol (Berl). 2019;137(4): 657-673
  • 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-oophorectomy Eur J Med Res. 2019;24(1):
  • 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 Glaucoma JAMA Ophthalmol. 2019;137(4): 348-355
  • 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
  • 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
  • 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 statement Clin Genet. 2019;95(4): 462-478
  • 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 disability BMC Cancer. 2019;19():
  • 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
  • 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
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