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Page 1
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: hickey se. 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.
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.
Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P. Koboldt DC, et al. Among authors: hickey se. Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3):a002410. doi: 10.1101/mcs.a002410. Print 2018 Jun. Cold Spring Harb Mol Case Stud. 2018. PMID: 29305346 Free PMC article.
Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant.
Koboldt DC, Hickey SE, Chaudhari BP, Mihalic Mosher T, Bedrosian T, Crist E, Kaler SG, McBride K, White P, Wilson RK. Koboldt DC, et al. Among authors: hickey se. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005306. doi: 10.1101/mcs.a005306. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32532881 Free PMC article.
Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome.
Marhabaie M, Hickey SE, Miller K, Grischow O, Schieffer KM, Franklin SJ, Gordon DM, Choi S, Mihalic Mosher T, White P, Koboldt DC, Wilson RK. Marhabaie M, et al. Among authors: hickey se. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006122. doi: 10.1101/mcs.a006122. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34667072 Free PMC article.
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. 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.
Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.
Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS. Lecerf K, et al. Among authors: hickey se. Rheumatology (Oxford). 2022 Dec 23;62(1):347-359. doi: 10.1093/rheumatology/keac227. Rheumatology (Oxford). 2022. PMID: 35412596 Free PMC article.
60 results