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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.
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.
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.
Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Çağlayan 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. Johansen A, et al. Among authors: popp b. Am J Hum Genet. 2016 Oct 6;99(4):912-916. doi: 10.1016/j.ajhg.2016.07.019. Epub 2016 Sep 8. Am J Hum Genet. 2016. PMID: 27616480 Free PMC article.
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Hoyer J, Zweier C, Reis A, Bacino CA, Xiao R, Breman AM, Smith JL; Deciphering Developmental Disorders Study; Katsanis N, Bostwick B, Popp B, Davis EE, Yang Y. Stankiewicz P, et al. Among authors: popp b. Am J Hum Genet. 2017 Oct 5;101(4):503-515. doi: 10.1016/j.ajhg.2017.08.014. Epub 2017 Sep 21. Am J Hum Genet. 2017. PMID: 28942966 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.
TRIM28 haploinsufficiency predisposes to Wilms tumor.
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. Diets IJ, et al. Among authors: popp b. Int J Cancer. 2019 Aug 15;145(4):941-951. doi: 10.1002/ijc.32167. Epub 2019 Feb 14. Int J Cancer. 2019. PMID: 30694527 Free article.
215 results