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CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.
Szenker-Ravi E, Ott T, Yusof A, Chopra M, Khatoo M, Pak B, Xuan Goh W, Beckers A, Brady AF, Ewans LJ, Djaziri N, Almontashiri NAM, Alghamdi MA, Alharby E, Dasouki M, Romo L, Tan WH, Maddirevula S, Alkuraya FS, Giordano JL, Alkelai A, Wapner RJ, Stals K, Alfadhel M, Alswaid AF, Bogusch S, Schafer-Kosulya A, Vogel S, Vick P, Schweickert A, Wakeling M, Moreau de Bellaing A, Alshamsi AM, Sanlaville D, Mbarek H, Saad C, Ellard S, Eisenhaber F, Tripolszki K, Beetz C, Bauer P, Gossler A, Eisenhaber B, Blum M, Bouvagnet P, Bertoli-Avella A, Amiel J, Gordon CT, Reversade B. Szenker-Ravi E, et al. Among authors: wakeling m. Am J Hum Genet. 2024 Dec 27:S0002-9297(24)00448-8. doi: 10.1016/j.ajhg.2024.12.006. Online ahead of print. Am J Hum Genet. 2024. PMID: 39753129
Primate-specific ZNF808 is essential for pancreatic development in humans.
De Franco E, Owens NDL, Montaser H, Wakeling MN, Saarimäki-Vire J, Triantou A, Ibrahim H, Balboa D, Caswell RC, Jennings RE, Kvist JA, Johnson MB, Muralidharan S, Ellard S, Wright CF, Maddirevula S, Alkuraya FS; Pancreatic Agenesis Gene Discovery Consortium; Hanley NA, Flanagan SE, Otonkoski T, Hattersley AT, Imbeault M. De Franco E, et al. Among authors: wakeling mn. Nat Genet. 2023 Dec;55(12):2075-2081. doi: 10.1038/s41588-023-01565-x. Epub 2023 Nov 16. Nat Genet. 2023. PMID: 37973953 Free PMC article.
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.
Low KJ, Stals K, Caswell R, Wakeling M, Clayton-Smith J, Donaldson A, Foulds N, Norman A, Splitt M, Urankar K, Vijayakumar K, Majumdar A, Study D, Ellard S, Smithson SF. Low KJ, et al. Among authors: wakeling m. Eur J Hum Genet. 2018 Jun;26(6):796-807. doi: 10.1038/s41431-018-0110-x. Epub 2018 Mar 6. Eur J Hum Genet. 2018. PMID: 29511323 Free PMC article.
Misannotation of multiple-nucleotide variants risks misdiagnosis.
Wakeling MN, Laver TW, Colclough K, Parish A, Ellard S, Baple EL. Wakeling MN, et al. Wellcome Open Res. 2019 Oct 1;4:145. doi: 10.12688/wellcomeopenres.15420.2. eCollection 2019. Wellcome Open Res. 2019. PMID: 31976378 Free PMC article.
SavvyCNV: Genome-wide CNV calling from off-target reads.
Laver TW, De Franco E, Johnson MB, Patel KA, Ellard S, Weedon MN, Flanagan SE, Wakeling MN. Laver TW, et al. PLoS Comput Biol. 2022 Mar 16;18(3):e1009940. doi: 10.1371/journal.pcbi.1009940. eCollection 2022 Mar. PLoS Comput Biol. 2022. PMID: 35294448 Free PMC article.
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome.
Wakeling E, McEntagart M, Bruccoleri M, Shaw-Smith C, Stals KL, Wakeling M, Barnicoat A, Beesley C; DDD Study; Hanson-Kahn AK, Kukolich M, Stevenson DA, Campeau PM, Ellard S, Elsea SH, Yang XJ, Caswell RC. Wakeling E, et al. Among authors: wakeling m. HGG Adv. 2021 Jan 14;2(1):100015. doi: 10.1016/j.xhgg.2020.100015. HGG Adv. 2021. PMID: 33537682 Free PMC article.
49 results