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Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
Burglen L, Van Hoeymissen E, Qebibo L, Barth M, Belnap N, Boschann F, Depienne C, De Clercq K, Douglas AGL, Fitzgerald MP, Foulds N, Garel C, Helbig I, Held K, Horn D, Janssen A, Kaindl AM, Narayanan V, Prager C, Rupin-Mas M, Afenjar A, Zhao S, Ramaekers VT, Ruggiero SM, Thomas S, Valence S, Van Maldergem L, Rohacs T, Rodriguez D, Dyment D, Voets T, Vriens J. Burglen L, et al. Among authors: boschann f. Elife. 2023 Jan 17;12:e81032. doi: 10.7554/eLife.81032. Elife. 2023. PMID: 36648066 Free PMC article.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Among authors: boschann f. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
Vogt G, Verheyen S, Schwartzmann S, Ehmke N, Potratz C, Schwerin-Nagel A, Plecko B, Holtgrewe M, Seelow D, Blatterer J, Speicher MR, Kornak U, Horn D, Mundlos S, Fischer-Zirnsak B, Boschann F. Vogt G, et al. Among authors: boschann f. J Med Genet. 2022 Jul;59(7):662-668. doi: 10.1136/jmedgenet-2021-107843. Epub 2021 Jun 18. J Med Genet. 2022. PMID: 34379057 Free PMC article.
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.
Nøstvik M, Kateta SM, Schönewolf-Greulich B, Afenjar A, Barth M, Boschann F, Doummar D, Haack TB, Keren B, Livshits LA, Mei D, Park J, Pisano T, Prouteau C, Umair M, Waqas A, Ziegler A, Guerrini R, Møller RS, Tümer Z. Nøstvik M, et al. Among authors: boschann f. Clin Genet. 2021 Nov;100(5):628-633. doi: 10.1111/cge.14051. Epub 2021 Aug 31. Clin Genet. 2021. PMID: 34415064
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
Sczakiel HL, Zhao M, Wollert-Wulf B, Danyel M, Ehmke N, Stoltenburg C, Damseh N, Al-Ashhab M, Balci TB, Osmond M, Andrade A, Schallner J, Porrmann J, McDonald K, Liao M, Oppermann H, Platzer K, Dierksen N, Mojarrad M, Eslahi A, Bakaeean B, Calame DG, Lupski JR, Firoozfar Z, Seyedhassani SM, Mohammadi SA, Anwaar N, Rahman F, Seelow D, Janz M, Horn D, Maroofian R, Boschann F. Sczakiel HL, et al. Among authors: boschann f. Eur J Hum Genet. 2023 Aug;31(8):905-917. doi: 10.1038/s41431-023-01382-0. Epub 2023 May 15. Eur J Hum Genet. 2023. PMID: 37188825 Free PMC article.
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.
Horn D, Fernández-Núñez E, Gomez-Carmona R, Rivera-Barahona A, Nevado J, Schwartzmann S, Ehmke N, Lapunzina P, Otaify GA, Temtamy S, Aglan M, Boschann F, Ruiz-Perez VL. Horn D, et al. Among authors: boschann f. Genet Med. 2021 Apr;23(4):679-688. doi: 10.1038/s41436-020-01052-2. Epub 2021 Jan 13. Genet Med. 2021. PMID: 33442026 Free article.
31 results