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Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.
Ramadesikan S, Hickey S, De Los Reyes E, Patel AD, Franklin SJ, Brennan P, Crist E, Lee K, White P, McBride KL, Koboldt DC, Wilson RK. Ramadesikan S, et al. Among authors: mcbride kl. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006165. doi: 10.1101/mcs.a006165. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35091508 Free PMC article.
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.
Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. Koboldt DC, et al. Among authors: mcbride kl. Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5):a003160. doi: 10.1101/mcs.a003160. Print 2018 Oct. Cold Spring Harb Mol Case Stud. 2018. PMID: 30054298 Free PMC article.
Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia.
Mihalic Mosher T, Zygmunt DA, Koboldt DC, Kelly BJ, Johnson LR, McKenna DS, Hood BC, Hickey SE, White P, Wilson RK, Martin PT, McBride KL. Mihalic Mosher T, et al. Among authors: mcbride kl. Eur J Hum Genet. 2019 Oct;27(10):1569-1577. doi: 10.1038/s41431-019-0464-8. Epub 2019 Jul 5. Eur J Hum Genet. 2019. PMID: 31278392 Free PMC article.
Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree.
Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Hickey SE, et al. Among authors: mcbride kl. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004176. doi: 10.1101/mcs.a004176. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31836586 Free PMC article.
131 results