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CEP152 is a genome maintenance protein disrupted in Seckel syndrome.
Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, Kayserili H, Li Y, Tüysüz B, Nürnberg G, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, Kayipmaz S, Kul S, Ikbal M, Turner DJ, Taylor MS, Aerts J, Scott C, Milstein K, Dollfus H, Wieczorek D, Brunner HG, Hurles M, Jackson AP, Rauch A, Nürnberg P, Karagüzel A, Wollnik B. Kalay E, et al. Among authors: bicknell ls. Nat Genet. 2011 Jan;43(1):23-6. doi: 10.1038/ng.725. Epub 2010 Dec 5. Nat Genet. 2011. PMID: 21131973 Free PMC article.
A second hotspot for pathogenic exon-skipping variants in CDC45.
Schoch K, Ruegg MSG, Fellows BJ, Cao J, Uhrig S, Einsele-Scholz S, Biskup S, Hawarden SRA, Salpietro V, Capra V; Undiagnosed Diseases Network; Brown CM, Accogli A, Shashi V, Bicknell LS. Schoch K, et al. Among authors: bicknell ls. Eur J Hum Genet. 2024 Jul;32(7):786-794. doi: 10.1038/s41431-024-01583-1. Epub 2024 Mar 11. Eur J Hum Genet. 2024. PMID: 38467731 Free PMC article.
De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias.
Sandal P, Jong CJ, Merrill RA, Kollman GJ, Paden AH, Bend EG, Sullivan J, Spillmann RC, Shashi V, Vulto-van Silfhout AT, Pfundt R, de Vries BBA, Li PP, Bicknell LS, Strack S. Sandal P, et al. Among authors: bicknell ls. Hum Mol Genet. 2025 Jan 29;34(2):193-203. doi: 10.1093/hmg/ddae166. Hum Mol Genet. 2025. PMID: 39565297 Free PMC article.
Histones: coming of age in Mendelian genetic disorders.
Knapp K, Naik N, Ray S, van Haaften G, Bicknell LS. Knapp K, et al. Among authors: bicknell ls. J Med Genet. 2023 Mar;60(3):213-222. doi: 10.1136/jmg-2022-109085. Epub 2023 Jan 23. J Med Genet. 2023. PMID: 36690428 Review.
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PA, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NV, Mackenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP. Bicknell LS, et al. Nat Genet. 2011 Feb 27;43(4):356-9. doi: 10.1038/ng.775. Nat Genet. 2011. PMID: 21358632 Free PMC article.
51 results