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Publikationen

Publikationen 2024

  • Reis A:(2024)Award of the GfH Medal of Honor 2024 to Dr. rer. nat. Holger ProkischMed. Genet.. 2024;36(3): 201-202
  • van der Sluijs PJ, Gösgens M, Dingemans AJM, Striano P, Riva A, Mignot C, Faudet A, Vasileiou G, Walther M, Schrier Vergano SA, Alders M, Alkuraya FS, Alorainy I, Alsaif HS, Anderlid B, Bache I, van Beek I, Blanluet M, van Bon BW, Brunet T, Brunner H, Carriero ML, Charles P, Chatron N, Coccia E, Dubourg C, Earl RK, Eichler EE, Faivre L, Foulds N, Graziano C, Guerrot AM, Hashem MO, Heide S, Heron D, Hickey SE, Hopman SMJ, Kattentidt-Mouravieva A, Kerkhof J, Klein Wassink-Ruiter JS, Kurtz-Nelson EC, Kušíková K, Kvarnung M, Lecoquierre F, Leszinski GS, Loberti L, Magoulas PL, Mari F, Maystadt I, Merla G, Milunsky JM, Moortgat S, Nicolas G, Leary MO', Odent S, Ozmore JR, Parbhoo K, Pfundt R, Piccione M, Pinto AM, Popp B, Putoux A, Rehm HL, Reis A, Renieri A, Rosenfeld JA, Rossi M, Salzano E, Saugier-Veber P, Seri M, Severi G, Sonmez FM, Strobl-Wildemann G, Stuurman KE, Uctepe E, Van Esch H, Vitetta G, de Vries BBA, Wahl D, Wang T, Zacher P, Heitink KR, Ropers FG, Steenbeek D, Rybak T, Santen GWE:(2024)ARID1B-related disorder in 87 adults: Natural history and self-sustainability.Genet Med Open. 2024;2():
  • Schmid C, Gregor A, Costain G, Morel C, Massingham L, Schwab J, Quelin C, Faoucher M, Kaplan J, Procopio R, Sauders CJ, Cohen ASA, Lemire G, Sacharow S, O'Donnell-Luria A, Jaron R, Shamshoni J, Schweitzer D, Ebrahimi-Fakhari D, Monaghan K, Palculict T, Napier M, Tao A, Isidor B, Moradkhani K, Reis A, Sticht H, Chung W, Zweier C:(2024)LHX2 haploinsufficiency causes a variable neurodevelopmental disorderEur J Hum Genet. 2024;32 Suppl 1(): 48-49
  • Interdonato L, Himmelreich N, Garbade SF, Wen D, Morath M, Di Paola R, Calabrese V, Thiel C, Peters V:(2024)Assessing carnosinase 1 activity for diagnosing congenital disorders of glycosylation.Mol Genet Metab. 2024;143(1-2):
  • Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia Moya L, García-Miñaúr S, Osmond M, Chad L, Quercia N, Carrasco D, Li C, Sanchez-Valle A, Kelley M, Nizon M, Jensson BO, Sulem P, Stefansson K, Gorokhova S, Busa T, Rio M, Hadj Habdallah H, Lesieur-Sebellin M, Amiel J, Pingault V, Mercier S, Vincent M, Philippe C, Fatus-Fauconnier C, Friend K, Halligan RK, Biswas S, Rosser J, Shoubridge C, Corbett M, Barnett C, Gecz J, Leppig K, Slavotinek A, Marcelis C, Pfundt R, de Vries BB, van Slegtenhorst MA, Brooks AS, Cogne B, Rambaud T, Tümer Z, Zackai EH, Akizu N, Song Y, Hakonarson H:(2024)Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.J Clin Invest. 2024;134(1):
  • Wopperer FJ, Olinger E, Wiesener A, Broeker KAE, Knaup KX, Schaefer JT, Galiano M, Schneider K, Schiffer M, Genomics England Research Consortium , Büttner-Herold M, Reis A, Schmieder R, Pasutto F, Hilgers KF, Poglitsch M, Ziegler C, Shoemaker R, Sayer JA, Wiesener MS:(2024)Progressive Kidney Failure by Angiotensinogen Inactivation in the Germline.Hypertension. 2024;81(9): 1857-1868
  • Bosch E, Guese E, Kirchner P, Hebebrand M, Ekici AB, Reis A, Vasileiou G:(2024)Resolving pathogenicity of non-truncating ARID1B variants in Coffin-Siris syndromeEur J Hum Genet. 2024;32 Suppl 1(): 467-468
  • Bosch E, Güse E, Kirchner P, Winterpacht A, Walther M, Alders M, Kerkhof J, Ekici AB, Sticht H, Sadikovic B, Reis A, Vasileiou G:(2024)The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation.Hum Genet. 2024;143(8): 965-978
  • Hayatu MD, Hueffmeir U, Uebe S, Ekici AB, Moessner R, Magnolo N, Philipp S, Prinz JC, Schaekel K, Sondermann W, Sticherling M, Gerdes S, Wilsmann-Theis D:(2024)Genotype-phenotype correlation analysis in patients with generalized pustular psoriasisEur J Hum Genet. 2024;32 Suppl 1(): 411-412
  • Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, Petersen AK, Magnussen K, Zweier C, Vasileiou G, Reis A, Savatt JM, Mulligan MR, Bicknell LS, Poke G, Abu-El-Haija A, Duis J, Hannig V, Srivastava S, Barkoudah E, Hauser NS, van den Born M, Hamiel U, Henig N, Baris Feldman H, McKee S, Krapels IPC, Lei Y, Todorova A, Yordanova R, Atemin S, Rogac M, McConnell V, Chassevent A, Barañano KW, Shashi V, Sullivan JA, Peron A, Iascone M, Canevini MP, Friedman J, Reyes IA, Kierstein J, Shen JJ, Ahmed FN, Mao X, Almoguera B, Blanco-Kelly F, Platzer K, Treu AB, Quilichini J, Bourgois A, Chatron N, Januel L, Rougeot C, Carere DA, Monaghan KG, Rousseau J, Myers KA, Sadikovic B, Akhtar A, Campeau PM:(2024)MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.Am J Hum Genet. 2024;111(7): 1330-1351

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Publikationen 2018

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