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Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Thomas-Wilson A, Schacht JP, Chitayat D, Blaser S, Santos FJR, Glaser K, Caffo A, Wentzensen IM, Henderson LB, Zhang F, Zhu Y, Di Corleto E, da Silva Costa F, Vink R, Alkhunaizi E, Russell L, Buckley MF, Roscioli T, Pereira EM, Ganapathi M. Thomas-Wilson A, et al. Among authors: zhang f. Am J Med Genet A. 2023 Jul;191(7):1935-1941. doi: 10.1002/ajmg.a.63203. Epub 2023 Apr 9. Am J Med Genet A. 2023. PMID: 37031378 Review.
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.
Forwood C, Ashton K, Zhu Y, Zhang F, Dias KR, Standen K, Evans CA, Carey L, Cardamone M, Shalhoub C, Katf H, Riveros C, Hsieh TC, Krawitz P, Robinson PN, Dudding-Byth T, Sadikovic B, Pinner J, Buckley MF, Roscioli T. Forwood C, et al. Among authors: zhang f. Am J Med Genet C Semin Med Genet. 2023 Sep;193(3):e32056. doi: 10.1002/ajmg.c.32056. Epub 2023 Aug 31. Am J Med Genet C Semin Med Genet. 2023. PMID: 37654076 Free PMC article.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Dias KR, Shrestha R, Schofield D, Evans CA, O'Heir E, Zhu Y, Zhang F, Standen K, Weisburd B, Stenton SL, Sanchis-Juan A, Brand H, Talkowski ME, Ma A, Ghedia S, Wilson M, Sandaradura SA, Smith J, Kamien B, Turner A, Bakshi M, Adès LC, Mowat D, Regan M, McGillivray G, Savarirayan R, White SM, Tan TY, Stark Z, Brown NJ, Pérez-Jurado LA, Krzesinski E, Hunter MF, Akesson L, Fennell AP, Yeung A, Boughtwood T, Ewans LJ, Kerkhof J, Lucas C, Carey L, French H, Rapadas M, Stevanovski I, Deveson IW, Cliffe C, Elakis G, Kirk EP, Dudding-Byth T, Fletcher J, Walsh R, Corbett MA, Kroes T, Gecz J, Meldrum C, Cliffe S, Wall M, Lunke S, North K, Amor DJ, Field M, Sadikovic B, Buckley MF, O'Donnell-Luria A, Roscioli T. Dias KR, et al. Among authors: zhang f. Genet Med. 2024 Jan 19;26(5):101076. doi: 10.1016/j.gim.2024.101076. Online ahead of print. Genet Med. 2024. PMID: 38258669
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.
Karlsson Linnér R, Biroli P, Kong E, Meddens SFW, Wedow R, Fontana MA, Lebreton M, Tino SP, Abdellaoui A, Hammerschlag AR, Nivard MG, Okbay A, Rietveld CA, Timshel PN, Trzaskowski M, Vlaming R, Zünd CL, Bao Y, Buzdugan L, Caplin AH, Chen CY, Eibich P, Fontanillas P, Gonzalez JR, Joshi PK, Karhunen V, Kleinman A, Levin RZ, Lill CM, Meddens GA, Muntané G, Sanchez-Roige S, Rooij FJV, Taskesen E, Wu Y, Zhang F; 23and Me Research Team; eQTLgen Consortium; International Cannabis Consortium; Social Science Genetic Association Consortium; Auton A, Boardman JD, Clark DW, Conlin A, Dolan CC, Fischbacher U, Groenen PJF, Harris KM, Hasler G, Hofman A, Ikram MA, Jain S, Karlsson R, Kessler RC, Kooyman M, MacKillop J, Männikkö M, Morcillo-Suarez C, McQueen MB, Schmidt KM, Smart MC, Sutter M, Thurik AR, Uitterlinden AG, White J, Wit H, Yang J, Bertram L, Boomsma DI, Esko T, Fehr E, Hinds DA, Johannesson M, Kumari M, Laibson D, Magnusson PKE, Meyer MN, Navarro A, Palmer AA, Pers TH, Posthuma D, Schunk D, Stein MB, Svento R, Tiemeier H, Timmers PRHJ, Turley P, Ursano RJ, Wagner GG, Wilson JF, Gratten J, Lee JJ, Cesarini D, Benjamin DJ, Koellinger PD, Beauchamp JP. Karlsson Linnér R, et al. Among authors: zhang f. Nat Genet. 2019 Feb;51(2):245-257. doi: 10.1038/s41588-018-0309-3. Epub 2019 Jan 14. Nat Genet. 2019. PMID: 30643258 Free PMC article.
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