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DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Hartill VL, van de Hoek G, Patel MP, Little R, Watson CM, Berry IR, Shoemark A, Abdelmottaleb D, Parkes E, Bacchelli C, Szymanska K, Knoers NV, Scambler PJ, Ueffing M, Boldt K, Yates R, Winyard PJ, Adler B, Moya E, Hattingh L, Shenoy A, Hogg C, Sheridan E, Roepman R, Norris D, Mitchison HM, Giles RH, Johnson CA. Hartill VL, et al. Hum Mol Genet. 2018 Feb 1;27(3):529-545. doi: 10.1093/hmg/ddx422. Hum Mol Genet. 2018. PMID: 29228333 Free PMC article.
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.
Bonnefoy S, Watson CM, Kernohan KD, Lemos M, Hutchinson S, Poulter JA, Crinnion LA, Berry I, Simmonds J, Vasudevan P, O'Callaghan C, Hirst RA, Rutman A, Huang L, Hartley T, Grynspan D, Moya E, Li C, Carr IM, Bonthron DT, Leroux M; Care4Rare Canada Consortium; Boycott KM, Bastin P, Sheridan EG. Bonnefoy S, et al. Among authors: berry i. Am J Hum Genet. 2018 Nov 1;103(5):727-739. doi: 10.1016/j.ajhg.2018.10.003. Am J Hum Genet. 2018. PMID: 30388400 Free PMC article.
Cerebral hypomyelination associated with biallelic variants of FIG4.
Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S; Broad Center for Mendelian Genomics; White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH. Lenk GM, et al. Among authors: berry ir. Hum Mutat. 2019 May;40(5):619-630. doi: 10.1002/humu.23720. Epub 2019 Feb 28. Hum Mutat. 2019. PMID: 30740813 Free PMC article.
RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency.
Watson CM, Stockdale C, Berry I, Crinnion LA, Carr IM, Cant A, Bonthron DT, Savic S. Watson CM, et al. Among authors: berry i. J Clin Immunol. 2019 Apr;39(3):270-273. doi: 10.1007/s10875-019-00625-4. Epub 2019 Apr 16. J Clin Immunol. 2019. PMID: 30989467 Free article. No abstract available.
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C; CanVIG-UK. Loong L, et al. Genet Med. 2022 Mar;24(3):552-563. doi: 10.1016/j.gim.2021.11.011. Epub 2021 Nov 18. Genet Med. 2022. PMID: 34906453 Free PMC article.
262 results