Publikationen 2016

Humangenetik

Direktor:
Prof. Dr. med. André Reis

Publikationen 2016

  • Ettle B, Kerman BE, Valera E, Gillmann C, Schlachetzki JC, Reiprich S, Büttner C, Ekici AB, Reis A, Wegner M, Bäuerle T, Riemenschneider MJ, Masliah E, Gage FH, Winkler J: (2016) ?-Synuclein-induced myelination deficit defines a novel interventional target...
    Acta Neuropathol (Berl). 2016;132(1): 59-75
  • Winter L, Türk M, Harter PN, Mittelbronn M, Kornblum C, Norwood F, Jungbluth H, Thiel CT, Schlötzer-Schrehardt U, Schröder R: (2016) Downstream effects of plectin mutations in epidermolysis bullosa simplex with...
    Acta Neuropathol Commun. 2016;4(1): 44
  • Kochinke K, Zweier C, Nijhof B, Fenckova M, Cizek P, Honti F, Keerthikumar S, Oortveld MA, Kleefstra T, Kramer JM, Webber C, Huynen MA, Schenck A: (2016) Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual...
    Am J Hum Genet. 2016;98(1): 149-64
  • Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG: (2016) Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15...
    Am J Hum Genet. 2016;99(1): 228-35
  • Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Ça?layan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R: (2016) Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead...
    Am J Hum Genet. 2016;99(4): 912-916
  • Jerber J, Zaki MS, Al-Aama JY, Rosti RO, Ben-Omran T, Dikoglu E, Silhavy JL, Caglar C, Musaev D, Albrecht B, Campbell KP, Willer T, Almuriekhi M, Ça?layan AO, Vajsar J, Bilgüvar K, Ogur G, Abou Jamra R, Günel M, Gleeson JG: (2016) Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing...
    Am J Hum Genet. 2016;99(5): 1181-1189
  • Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fernández-Jaén A, McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG, DDD study: (2016) Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
    Am J Med Genet A. 2016;170(3): 670-5
  • Mishra HK, Prots I, Havlicek S, Kohl Z, Perez-Branguli F, Boerstler T, Anneser L, Minakaki G, Wend H, Hampl M, Leone M, Brückner M, Klucken J, Reis A, Boyer L, Schuierer G, Behrens J, Lampert A, Engel FB, Gage FH, Winkler J, Winner B: (2016) GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient iPSC model.
    Ann Neurol. 2016;
  • Budu-Aggrey A, Bowes J, Loehr S, Uebe S, Zervou MI, Helliwell P, Ryan AW, Kane D, Korendowych E, Giardina E, Packham J, McManus R, FitzGerald O, McHugh N, Behrens F, Burkhardt H, Huffmeier U, Ho P, Martin J, Castañeda S, Goulielmos G, Reis A, Barton A: (2016) Replication of a distinct psoriatic arthritis risk variant at the IL23R locus.
    Ann Rheum Dis. 2016;75(7): 1417-8
  • Cabrera-Fuentes HA, Aragones J, Bernhagen J, Boening A, Boisvert WA, Bøtker HE, Bulluck H, Cook S, Di Lisa F, Engel FB, Engelmann B, Ferrazzi F, Ferdinandy P, Fong A, Fleming I, Gnaiger E, Hernández-Reséndiz S, Kalkhoran SB, Kim MH, Lecour S, Liehn EA, Marber MS, Mayr M, Miura T, Ong SB, Peter K, Sedding D, Singh MK, Suleiman MS, Schnittler HJ, Schulz R, Shim W, Tello D, Vogel CW, Walker M, Li QO, Yellon DM, Hausenloy DJ, Preissner KT: (2016) From basic mechanisms to clinical applications in heart protection, new...
    Basic Res Cardiol. 2016;111(6): 69
  • Löhr S, Uebe S, Behrens F, Böhm B, Köhm M, Traupe H, Oji V, Burkhardt H, Reis A, Hüffmeier U: (2016) Association analysis of psoriasis vulgaris and psoriatic arthritis with...
    Br J Dermatol. 2016;175(3): 639-41
  • Kar SP, Beesley J, Amin Al Olama A, Michailidou K, Tyrer J, Kote-Jarai Z, Lawrenson K, Lindstrom S, Ramus SJ, Thompson DJ, ABCTB Investigators , Kibel AS, Dansonka-Mieszkowska A, Michael A, Dieffenbach AK, Gentry-Maharaj A, Whittemore AS, Wolk A, Monteiro A, Peixoto A, Kierzek A, Cox A, Rudolph A, Gonzalez-Neira A, Wu AH, Lindblom A, Swerdlow A, AOCS Study Group & Australian Cancer Study (Ovarian Cancer) , APCB BioResource , Ziogas A, Ekici AB, Burwinkel B, Karlan BY, Nordestgaard BG, Blomqvist C, Phelan C, McLean C, Pearce CL, Vachon C, Cybulski C, Slavov C, Stegmaier C, Maier C, Ambrosone CB, Høgdall CK, Teerlink CC, Kang D, Tessier DC, Schaid DJ, Stram DO, Cramer DW, Neal DE, Eccles D, Flesch-Janys D, Edwards DR, Wokozorczyk D, Levine DA, Yannoukakos D, Sawyer EJ, Bandera EV, Poole EM, Goode EL, Khusnutdinova E, Høgdall E, Song F, Bruinsma F, Heitz F, Modugno F, Hamdy FC, Wiklund F, Giles GG, Olsson H, Wildiers H, Ulmer HU, Pandha H, Risch HA, Darabi H, Salvesen HB, Nevanlinna H, Gronberg H, Brenner H, Brauch H, Anton-Culver H, Song H, Lim HY, McNeish I, Campbell I, Vergote I, Gronwald J, Lubi?ski J, Stanford JL, Benítez J, Doherty JA, Permuth JB, Chang-Claude J, Donovan JL, Dennis J, Schildkraut JM, Schleutker J, Hopper JL, Kupryjanczyk J, Park JY, Figueroa J, Clements JA, Knight JA, Peto J, Cunningham JM, Pow-Sang J, Batra J, Czene K, Lu KH, Herkommer K, Khaw KT, kConFab Investigators , Matsuo K, Muir K, Offitt K, Chen K, Moysich KB, Aittomäki K, Odunsi K, Kiemeney LA, Massuger LF, Fitzgerald LM, Cook LS, Cannon-Albright L, Hooning MJ, Pike MC, Bolla MK, Luedeke M, Teixeira MR, Goodman MT, Schmidt MK, Riggan M, Aly M, Rossing MA, Beckmann MW, Moisse M, Sanderson M, Southey MC, Jones M, Lush M, Hildebrandt MA, Hou MF, Schoemaker MJ, Garcia-Closas M, Bogdanova N, Rahman N, NBCS Investigators , Le ND, Orr N, Wentzensen N, Pashayan N, Peterlongo P, Guénel P, Brennan P, Paulo P, Webb PM, Broberg P, Fasching PA, Devilee P, Wang Q, Cai Q, Li Q, Kaneva R, Butzow R, Kopperud RK, Schmutzler RK, Stephenson RA, MacInnis RJ, Hoover RN, Winqvist R, Ness R, Milne RL, Travis RC, Benlloch S, Olson SH, McDonnell SK, Tworoger SS, Maia S, Berndt S, Lee SC, Teo SH, Thibodeau SN, Bojesen SE, Gapstur SM, Kjær SK, Pejovic T, Tammela TL, GENICA Network , PRACTICAL consortium , Dörk T, Brüning T, Wahlfors T, Key TJ, Edwards TL, Menon U, Hamann U, Mitev V, Kosma VM, Setiawan VW, Kristensen V, Arndt V, Vogel W, Zheng W, Sieh W, Blot WJ, Kluzniak W, Shu XO, Gao YT, Schumacher F, Freedman ML, Berchuck A, Dunning AM, Simard J, Haiman CA, Spurdle A, Sellers TA, Hunter DJ, Henderson BE, Kraft P, Chanock SJ, Couch FJ, Hall P, Gayther SA, Easton DF, Chenevix-Trench G, Eeles R, Pharoah PD, Lambrechts D: (2016) Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association...
    Cancer Discov. 2016;6(9): 1052-67
  • Painter JN, O'Mara TA, Marquart L, Webb PM, Attia J, Medland SE, Cheng T, Dennis J, Holliday EG, McEvoy M, Scott RJ, Ahmed S, Healey CS, Shah M, Gorman M, Martin L, Hodgson SV, Beckmann MW, Ekici AB, Fasching PA, Hein A, Rübner M, Czene K, Darabi H, Hall P, Li J, Dörk T, Dürst M, Hillemanns P, Runnebaum IB, Amant F, Annibali D, Depreeuw J, Lambrechts D, Neven P, Cunningham JM, Dowdy SC, Goode EL, Fridley BL, Winham SJ, Njølstad TS, Salvesen HB, Trovik J, Werner HM, Ashton KA, Otton G, Proietto A, Mints M, Tham E, Bolla MK, Michailidou K, Wang Q, Tyrer JP, Hopper JL, Peto J, Swerdlow AJ, Burwinkel B, Brenner H, Meindl A, Brauch H, Lindblom A, Chang-Claude J, Couch FJ, Giles GG, Kristensen VN, Cox A, Pharoah PD, Tomlinson I, Dunning AM, Easton DF, Thompson DJ, Spurdle AB, AOCS Group , for RENDOCAS , National Study of Endometrial Cancer Genetics Group (NSECG) , Australian National Endometrial Cancer Study Group (ANECS): (2016) Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body...
    Cancer Epidemiol Biomarkers Prev. 2016;25(11): 1503-1510
  • Khetarpal SA, Schjoldager KT, Christoffersen C, Raghavan A, Edmondson AC, Reutter HM, Ahmed B, Ouazzani R, Peloso GM, Vitali C, Zhao W, Somasundara AV, Millar JS, Park Y, Fernando G, Livanov V, Choi S, Noé E, Patel P, Ho SP, Myocardial Infarction Exome Sequencing Study , Kirchgessner TG, Wandall HH, Hansen L, Bennett EP, Vakhrushev SY, Saleheen D, Kathiresan S, Brown CD, Abou Jamra R, LeGuern E, Clausen H, Rader DJ: (2016) Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans...
    Cell Metab. 2016;24(2): 234-45
  • Garcia-Cuellar MP, Büttner C, Bartenhagen C, Dugas M, Slany RK: (2016) Leukemogenic MLL-ENL Fusions Induce Alternative Chromatin States to Drive a...
    Cell Rep. 2016;15(2): 310-22
  • Chung HR, Xu C, Fuchs A, Mund A, Lange M, Staege H, Schubert T, Bian C, Dunkel I, Eberharter A, Regnard C, Klinker H, Meierhofer D, Cozzuto L, Winterpacht A, Di Croce L, Min J, Will H, Kinkley S: (2016) PHF13 is a molecular reader and transcriptional co-regulator of H3K4me2/3.
    Elife. 2016;5
  • Thompson DJ, O'Mara TA, Glubb DM, Painter JN, Cheng T, Folkerd E, Doody D, Dennis J, Webb PM, Australian National Endometrial Cancer Study Group (ANECS) , Gorman M, Martin L, Hodgson S, National Study of Endometrial Cancer Genetics Group (NSECG) , Michailidou K, Tyrer JP, Maranian MJ, Hall P, Czene K, Darabi H, Li J, Fasching PA, Hein A, Beckmann MW, Ekici AB, Dörk T, Hillemanns P, Dürst M, Runnebaum I, Zhao H, Depreeuw J, Schrauwen S, Amant F, Goode EL, Fridley BL, Dowdy SC, Winham SJ, Salvesen HB, Trovik J, Njolstad TS, Werner HM, Ashton K, Proietto T, Otton G, Carvajal-Carmona L, Tham E, Liu T, Mints M, for RENDOCAS , Scott RJ, McEvoy M, Attia J, Holliday EG, Montgomery GW, Martin NG, Nyholt DR, Henders AK, Hopper JL, Traficante N, AOCS Group , Ruebner M, Swerdlow AJ, Burwinkel B, Brenner H, Meindl A, Brauch H, Lindblom A, Lambrechts D, Chang-Claude J, Couch FJ, Giles GG, Kristensen VN, Cox A, Bolla MK, Wang Q, Bojesen SE, Shah M, Luben R, Khaw KT, Pharoah PD, Dunning AM, Tomlinson I, Dowsett M, Easton DF, Spurdle AB: (2016) CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for...
    Endocr Relat Cancer. 2016;23(2): 77-91
  • Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, Biskup S, Kreiß M, Endele S, Strom TM, Wieczorek D, Zenker M, Gupta S, Cohen J, Zink AM, Naidu S: (2016) Loss-of-function variants in HIVEP2 are a cause of intellectual disability.
    Eur J Hum Genet. 2016;24(4): 556-61
  • Schwerd T, Khaled AV, Schürmann M, Chen H, Händel N, Reis A, Gillessen-Kaesbach G, Uhlig HH, Abou Jamra R: (2016) A recessive form of extreme macrocephaly and mild intellectual disability...
    Eur J Hum Genet. 2016;24(6): 889-94
  • Popp B, Trollmann R, Büttner C, Caliebe A, Thiel CT, Hüffmeier U, Reis A, Zweier C: (2016) Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a...
    Eur J Med Genet. 2016;59(10): 549-53
  • Lee AW, Templeman C, Stram DA, Beesley J, Tyrer J, Berchuck A, Pharoah PP, Chenevix-Trench G, Pearce CL, Ovarian Cancer Association Consortium , Ness RB, Dansonka-Mieszkowska A, Gentry-Maharaj A, Hein A, Whittemore AS, Jensen A, du Bois A, Brooks-Wilson A, Rudolph A, Jakubowska A, Wu AH, Ziogas A, Ekici AB, Leminen A, Rosen B, Spiewankiewicz B, Karlan BY, Trabert B, Fridley BL, Gilks CB, Krakstad C, Phelan CM, Cybulski C, Walsh C, Hogdall C, Cramer DW, Huntsman DG, Eccles D, Lambrechts D, Liang D, Levine DA, Iversen ES, Bandera EV, Poole EM, Goode EL, Van Nieuwenhuysen E, Hogdall E, Bruinsma F, Heitz F, Modugno F, Giles GG, Risch HA, Baker H, Salvesen HB, Nevanlinna H, Anton-Culver H, Song H, McNeish I, Campbell IG, Vergote I, Runnebaum IB, Tangen IL, Schwaab I, Gronwald J, Paul J, Lubinski J, Doherty JA, Chang-Claude J, Lester J, Schildkraut JM, McLaughlin JR, Lissowska J, Kupryjanczyk J, Tyrer J, Kelley JL, Rothstein JH, Cunningham JM, Lu K, Carty K, Terry KL, Aben KK, Moysich KB, Wicklund KG, Odunsi K, Kiemeney LA, Sucheston-Campbell L, Lundvall L, Massuger LF, Pelttari LM, Kelemen LE, Cook LS, Bjorge L, Nedergaard L, Brinton LA, Wilkens LR, Pike MC, Goodman MT, Bisogna M, Rossing MA, Beckmann MW, Dürst M, Southey MC, Kellar M, Hildebrandt MA, Siddiqui N, Antonenkova N, Bogdanova N, Le ND, Wentzensen N, Thompson PJ, Harrington P, Webb PM, Fasching PA, Hillemanns P, Harter P, Sobiczewski P, Weber RP, Butzow R, Edwards RP, Vierkant RA, Glasspool R, Orsulic S, Lambrechts S, Olson SH, Wang-Gohrke S, Lele S, Tworoger SS, Gayther SA, Missmer SA, Narod SA, Ramus SJ, Kjaer SK, Pejovic T, Dörk T, Eilber U, Menon U, McGuire V, Sieh W, Wu X, Bean Y, Shvetsov YB: (2016) Evidence of a genetic link between endometriosis and ovarian cancer.
    Fertil Steril. 2016;105(1): 35-43.e1-10
  • Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2 , Hollestelle A, van der Baan FH, Berchuck A, Johnatty SE, Aben KK, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Anton-Culver H, Antonenkova NN, Antoniou AC, Apicella C, Arndt V, Arnold N, Arun BK, Arver B, Ashworth A, Australian Ovarian Cancer Study Group , Baglietto L, Balleine R, Bandera EV, Barrowdale D, Bean YT, Beckmann L, Beckmann MW, Benitez J, Berger A, Berger R, Beuselinck B, Bisogna M, Bjorge L, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Brand JS, Brauch H, Breast Cancer Family Register , Brenner H, Brinton L, Brooks-Wilson A, Bruinsma F, Brunet J, Brüning T, Budzilowska A, Bunker CH, Burwinkel B, Butzow R, Buys SS, Caligo MA, Campbell I, Carter J, Chang-Claude J, Chanock SJ, Claes KB, Collée JM, Cook LS, Couch FJ, Cox A, Cramer D, Cross SS, Cunningham JM, Cybulski C, Czene K, Damiola F, Dansonka-Mieszkowska A, Darabi H, de la Hoya M, deFazio A, Dennis J, Devilee P, Dicks EM, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Silva ID, du Bois A, Dumont M, Dunning AM, Duran M, Easton DF, Eccles D, Edwards RP, Ehrencrona H, Ejlertsen B, Ekici AB, Ellis SD, EMBRACE , Engel C, Eriksson M, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Fontaine A, Fortuzzi S, Fostira F, Fridley BL, Friebel T, Friedman E, Friel G, Frost D, Garber J, García-Closas M, Gayther SA, GEMO Study Collaborators , GENICA Network , Gentry-Maharaj A, Gerdes AM, Giles GG, Glasspool R, Glendon G, Godwin AK, Goodman MT, Gore M, Greene MH, Grip M, Gronwald J, Gschwantler Kaulich D, Guénel P, Guzman SR, Haeberle L, Haiman CA, Hall P, Halverson SL, Hamann U, Hansen TV, Harter P, Hartikainen JM, Healey S, HEBON , Hein A, Heitz F, Henderson BE, Herzog J, T Hildebrandt MA, Høgdall CK, Høgdall E, Hogervorst FB, Hopper JL, Humphreys K, Huzarski T, Imyanitov EN, Isaacs C, Jakubowska A, Janavicius R, Jaworska K, Jensen A, Jensen UB, Johnson N, Jukkola-Vuorinen A, Kabisch M, Karlan BY, Kataja V, Kauff N, KConFab Investigators , Kelemen LE, Kerin MJ, Kiemeney LA, Kjaer SK, Knight JA, Knol-Bout JP, Konstantopoulou I, Kosma VM, Krakstad C, Kristensen V, Kuchenbaecker KB, Kupryjanczyk J, Laitman Y, Lambrechts D, Lambrechts S, Larson MC, Lasa A, Laurent-Puig P, Lazaro C, Le ND, Le Marchand L, Leminen A, Lester J, Levine DA, Li J, Liang D, Lindblom A, Lindor N, Lissowska J, Long J, Lu KH, Lubinski J, Lundvall L, Lurie G, Mai PL, Mannermaa A, Margolin S, Mariette F, Marme F, Martens JW, Massuger LF, Maugard C, Mazoyer S, McGuffog L, McGuire V, McLean C, McNeish I, Meindl A, Menegaux F, Menéndez P, Menkiszak J, Menon U, Mensenkamp AR, Miller N, Milne RL, Modugno F, Montagna M, Moysich KB, Müller H, Mulligan AM, Muranen TA, Narod SA, Nathanson KL, Ness RB, Neuhausen SL, Nevanlinna H, Neven P, Nielsen FC, Nielsen SF, Nordestgaard BG, Nussbaum RL, Odunsi K, Offit K, Olah E, Olopade OI, Olson JE, Olson SH, Oosterwijk JC, Orlow I, Orr N, Orsulic S, Osorio A, Ottini L, Paul J, Pearce CL, Pedersen IS, Peissel B, Pejovic T, Pelttari LM, Perkins J, Permuth-Wey J, Peterlongo P, Peto J, Phelan CM, Phillips KA, Piedmonte M, Pike MC, Platte R, Plisiecka-Halasa J, Poole EM, Poppe B, Pylkäs K, Radice P, Ramus SJ, Rebbeck TR, Reed MW, Rennert G, Risch HA, Robson M, Rodriguez GC, Romero A, Rossing MA, Rothstein JH, Rudolph A, Runnebaum I, Salani R, Salvesen HB, Sawyer EJ, Schildkraut JM, Schmidt MK, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schrauder MG, Schumacher F, Schwaab I, Scuvera G, Sellers TA, Severi G, Seynaeve CM, Shah M, Shrubsole M, Siddiqui N, Sieh W, Simard J, Singer CF, Sinilnikova OM, Smeets D, Sohn C, Soller M, Song H, Soucy P, Southey MC, Stegmaier C, Stoppa-Lyonnet D, Sucheston L, SWE-BRCA , Swerdlow A, Tangen IL, Tea MK, Teixeira MR, Terry KL, Terry MB, Thomassen M, Thompson PJ, Tihomirova L, Tischkowitz M, Toland AE, Tollenaar RA, Tomlinson I, Torres D, Truong T, Tsimiklis H, Tung N, Tworoger SS, Tyrer JP, Vachon CM, Van 't Veer LJ, van Altena AM, Van Asperen CJ, van den Berg D, van den Ouweland AM, van Doorn HC, Van Nieuwenhuysen E, van Rensburg EJ, Vergote I, Verhoef S, Vierkant RA, Vijai J, Vitonis AF, von Wachenfeldt A, Walsh C, Wang Q, Wang-Gohrke S, Wappenschmidt B, Weischer M, Weitzel JN, Weltens C, Wentzensen N, Whittemore AS, Wilkens LR, Winqvist R, Wu AH, Wu X, Yang HP, Zaffaroni D, Pilar Zamora M, Zheng W, Ziogas A, Chenevix-Trench G, Pharoah PD, Rookus MA, Hooning MJ, Goode EL: (2016) No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.
    Gynecol Oncol. 2016;141(2): 386-401
  • Saunier C, Støve SI, Popp B, Gérard B, Blenski M, AhMew N, de Bie C, Goldenberg P, Isidor B, Keren B, Leheup B, Lampert L, Mignot C, Tezcan K, Mancini GM, Nava C, Wasserstein M, Bruel AL, Thevenon J, Masurel A, Duffourd Y, Kuentz P, Huet F, Rivière JB, van Slegtenhorst M, Faivre L, Piton A, Reis A, Arnesen T, Thauvin-Robinet C, Zweier C: (2016) Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation...
    Hum Mutat. 2016;37(8): 755-64
  • López-Posadas R, Becker C, Günther C, Tenzer S, Amann K, Billmeier U, Atreya R, Fiorino G, Vetrano S, Danese S, Ekici AB, Wirtz S, Thonn V, Watson AJ, Brakebusch C, Bergö M, Neurath MF, Atreya I: (2016) Rho-A prenylation and signaling link epithelial homeostasis to intestinal...
    J Clin Invest. 2016;126(2): 611-26
  • Souma T, Tompson SW, Thomson BR, Siggs OM, Kizhatil K, Yamaguchi S, Feng L, Limviphuvadh V, Whisenhunt KN, Maurer-Stroh S, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Mauri L, Javadiyan S, Souzeau E, Zhou T, Hewitt AW, Kloss B, Burdon KP, Mackey DA, Allen KF, Ruddle JB, Lim SH, Rozen S, Tran-Viet KN, Liu X, John S, Wiggs JL, Pasutto F, Craig JE, Jin J, Quaggin SE, Young TL: (2016) Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with...
    J Clin Invest. 2016;126(7): 2575-87
  • Mignot C, von Stulpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybala M, Yis U, Caglayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Wechuysen S, Myers CT, Mefford HC, Hortnagel K, Biskup S, Lemke JR, Heron D, Kluger G, Depienne C, EuroEPINOMICS-Res MAE Working Grp , Genetic & Neurodev Spectrum: (2016) Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual...
    J Med Genet. 2016;53(10): 720-720
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