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Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.
Alves MM, Halim D, Maroofian R, de Graaf BM, Rooman R, van der Werf CS, Van de Vijver E, Mehrjardi MY, Aflatoonian M, Chioza BA, Baple EL, Dehghani M, Crosby AH, Hofstra RM. Alves MM, et al. Among authors: crosby ah. Eur J Hum Genet. 2016 Nov;24(11):1627-1629. doi: 10.1038/ejhg.2016.58. Epub 2016 Jun 29. Eur J Hum Genet. 2016. PMID: 27352967 Free PMC article.
MNS1 variant associated with situs inversus and male infertility.
Leslie JS, Rawlins LE, Chioza BA, Olubodun OR, Salter CG, Fasham J, Jones HF, Cross HE, Lam S, Harlalka GV, Muggenthaler MMA, Crosby AH, Baple EL. Leslie JS, et al. Among authors: crosby ah. Eur J Hum Genet. 2020 Jan;28(1):50-55. doi: 10.1038/s41431-019-0489-z. Epub 2019 Sep 18. Eur J Hum Genet. 2020. PMID: 31534215 Free PMC article.
Mutation of HERC2 causes developmental delay with Angelman-like features.
Harlalka GV, Baple EL, Cross H, Kühnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJ, Chioza BA, Scheffner M, Rosa JL, Crosby AH. Harlalka GV, et al. Among authors: crosby ah. J Med Genet. 2013 Feb;50(2):65-73. doi: 10.1136/jmedgenet-2012-101367. Epub 2012 Dec 14. J Med Genet. 2013. PMID: 23243086
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.
Alakbarzade V, Hameed A, Quek DQ, Chioza BA, Baple EL, Cazenave-Gassiot A, Nguyen LN, Wenk MR, Ahmad AQ, Sreekantan-Nair A, Weedon MN, Rich P, Patton MA, Warner TT, Silver DL, Crosby AH. Alakbarzade V, et al. Among authors: crosby ah. Nat Genet. 2015 Jul;47(7):814-7. doi: 10.1038/ng.3313. Epub 2015 May 25. Nat Genet. 2015. PMID: 26005865
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, Simpson MA, Sreekantan-Nair A, Pereira A, Günther S, Jahic A, Modarres H, Moore-Barton H, Trembath RC, Kabra M, Baple EL, Thakur S, Patton MA, Beetz C, Pawlak R, Crosby AH. Harlalka GV, et al. Among authors: crosby ah. Hum Mutat. 2016 Nov;37(11):1157-1161. doi: 10.1002/humu.23060. Epub 2016 Aug 30. Hum Mutat. 2016. PMID: 27492651
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
Lin S, Fasham J, Al-Hijawi F, Qutob N, Gunning A, Leslie JS, McGavin L, Ubeyratna N, Baker W, Zeid R, Turnpenny PD, Crosby AH, Baple EL, Khalaf-Nazzal R. Lin S, et al. Among authors: crosby ah. Eur J Hum Genet. 2021 Oct;29(10):1570-1576. doi: 10.1038/s41431-021-00887-w. Epub 2021 May 20. Eur J Hum Genet. 2021. PMID: 34012134 Free PMC article.
146 results