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Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR. Ravenscroft G, et al. Among authors: clayton js. J Med Genet. 2021 Sep;58(9):609-618. doi: 10.1136/jmedgenet-2020-106901. Epub 2020 Oct 15. J Med Genet. 2021. PMID: 33060286 Free PMC article.
STRetch: detecting and discovering pathogenic short tandem repeat expansions.
Dashnow H, Lek M, Phipson B, Halman A, Sadedin S, Lonsdale A, Davis M, Lamont P, Clayton JS, Laing NG, MacArthur DG, Oshlack A. Dashnow H, et al. Among authors: clayton js. Genome Biol. 2018 Aug 21;19(1):121. doi: 10.1186/s13059-018-1505-2. Genome Biol. 2018. PMID: 30129428 Free PMC article.
Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.
González-Mera L, Ravenscroft G, Cabrera-Serrano M, Ermolova N, Domínguez-González C, Arteche-López A, Soltanzadeh P, Evesson F, Navas C, Mavillard F, Clayton J, Rodrigo P, Servián-Morilla E, Cooper ST, Waddell L, Reardon K, Corbett A, Hernandez-Laín A, Sanchez A, Esteban Perez J, Paradas-Lopez C, Rivas-Infante E, Spencer M, Laing N, Olivé M. González-Mera L, et al. Neuropathol Appl Neurobiol. 2021 Feb;47(2):283-296. doi: 10.1111/nan.12663. Epub 2020 Sep 28. Neuropathol Appl Neurobiol. 2021. PMID: 32896923
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
Scriba CK, Beecroft SJ, Clayton JS, Cortese A, Sullivan R, Yau WY, Dominik N, Rodrigues M, Walker E, Dyer Z, Wu TY, Davis MR, Chandler DC, Weisburd B, Houlden H, Reilly MM, Laing NG, Lamont PJ, Roxburgh RH, Ravenscroft G. Scriba CK, et al. Among authors: clayton js. Brain. 2020 Oct 1;143(10):2904-2910. doi: 10.1093/brain/awaa263. Brain. 2020. PMID: 33103729 Free PMC article.
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.
Osborn DPS, Emrahi L, Clayton J, Tabrizi MT, Wan AYB, Maroofian R, Yazdchi M, Garcia MLE, Galehdari H, Hesse C, Shariati G, Mazaheri N, Sedaghat A, Goullée H, Laing N, Jamshidi Y, Tajsharghi H. Osborn DPS, et al. Genet Med. 2021 Apr;23(4):787-792. doi: 10.1038/s41436-020-01028-2. Epub 2020 Dec 8. Genet Med. 2021. PMID: 33288880 Free PMC article.
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.
Beecroft SJ, Ayala M, McGillivray G, Nanda V, Agolini E, Novelli A, Digilio MC, Dotta A, Carrozzo R, Clayton J, Gaffney L, McLean CA, Ng J, Laing NG, Matteson P, Millonig J, Ravenscroft G. Beecroft SJ, et al. Hum Mutat. 2021 May;42(5):506-519. doi: 10.1002/humu.24179. Epub 2021 Apr 1. Hum Mutat. 2021. PMID: 33565183
Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene.
Clayton JS, Scriba CK, Romero NB, Malfatti E, Saker S, Larmonier T, Nowak KJ, Ravenscroft G, Laing NG, Taylor RL. Clayton JS, et al. Stem Cell Res. 2021 May;53:102273. doi: 10.1016/j.scr.2021.102273. Epub 2021 Feb 26. Stem Cell Res. 2021. PMID: 33740643 Free article.
Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene.
Clayton JS, Scriba CK, Romero NB, Malfatti E, Saker S, Larmonier T, Nowak KJ, Ravenscroft G, Laing NG, Taylor RL. Clayton JS, et al. Stem Cell Res. 2021 Aug;55:102482. doi: 10.1016/j.scr.2021.102482. Epub 2021 Jul 29. Stem Cell Res. 2021. PMID: 34388489 Free article.
32 results