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Page 1
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Rice GI, et al. Among authors: popp b. Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. Hum Mutat. 2020. PMID: 31898846 Free PMC article.
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
Hoyer J, Ekici AB, Endele S, Popp B, Zweier C, Wiesener A, Wohlleber E, Dufke A, Rossier E, Petsch C, Zweier M, Göhring I, Zink AM, Rappold G, Schröck E, Wieczorek D, Riess O, Engels H, Rauch A, Reis A. Hoyer J, et al. Among authors: popp b. Am J Hum Genet. 2012 Mar 9;90(3):565-72. doi: 10.1016/j.ajhg.2012.02.007. Am J Hum Genet. 2012. PMID: 22405089 Free PMC article.
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
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. Saunier C, et al. Among authors: popp b. Hum Mutat. 2016 Aug;37(8):755-64. doi: 10.1002/humu.23001. Epub 2016 May 4. Hum Mutat. 2016. PMID: 27094817 Free PMC article.
Exome Pool-Seq in neurodevelopmental disorders.
Popp B, Ekici AB, Thiel CT, Hoyer J, Wiesener A, Kraus C, Reis A, Zweier C. Popp B, et al. Eur J Hum Genet. 2017 Dec;25(12):1364-1376. doi: 10.1038/s41431-017-0022-1. Epub 2017 Nov 20. Eur J Hum Genet. 2017. PMID: 29158550 Free PMC article.
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, Reis A, Thiel CT. Hauer NN, et al. Among authors: popp b. Genet Med. 2018 Jun;20(6):630-638. doi: 10.1038/gim.2017.159. Epub 2017 Oct 12. Genet Med. 2018. PMID: 29758562 Free PMC article.
Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?
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. Vasileiou G, et al. Among authors: popp b. Prenat Diagn. 2019 Nov;39(12):1136-1147. doi: 10.1002/pd.5556. Epub 2019 Oct 25. Prenat Diagn. 2019. PMID: 31498910 Free article.
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D. Neuser S, et al. Among authors: popp b. Hum Mutat. 2021 Jun;42(6):762-776. doi: 10.1002/humu.24206. Epub 2021 May 11. Hum Mutat. 2021. PMID: 33847017
215 results