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Human Mutation|February 18, 2021
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20Georgios Nikolopoulos, Claire E L Smith, James A Poulter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variantsLucy Loong, Cankut Cubuk, Subin Choi, et al.
Steroids|May 17, 2011
Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patientsAngel O K Chan, W M But, K L Ng, et al.
American Journal of Human Genetics|July 24, 2018
Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue AbnormalitiesEveline Boudin, Tjeerd R de Jong, Tim C R Prickett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 3, 2022
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)Lucy Loong, Alice Garrett, Sophie Allen, et al.
Familial Cancer|July 10, 2012
Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndromeMichael P Farrell, David J Hughes, Ian R Berry, et al.
Journal of Medical Genetics|March 15, 2020
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary networkAlice Garrett, Alison Callaway, Miranda Durkie, et al.
Human Mutation|February 12, 2019
Cerebral hypomyelination associated with biallelic variants of FIG4Guy M Lenk, Ian R Berry, Chloe A Stutterd, et al.
Human Molecular Genetics|December 12, 2017
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transportVerity L Hartill, Glenn van de Hoek, Mitali P Patel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 6, 2024
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar AtaxiaRauan Kaiyrzhanov, Juan Darío Ortigoza-Escobar, Brett W Stringer, et al.
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