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Human Mutation|September 7, 2019
Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017Zhidai Liu, Chaowen Yu, Qingge Li, et al.Human Mutation|September 29, 2019
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variantsLoredana Bury, Karyn Megy, Jonathan C Stephens, et al.Human Mutation|August 13, 2019
CAPN5 genetic inactivation phenotype supports therapeutic inhibition trialsKatherine J Wert, Susanne F Koch, Gabriel Velez, et al.Human Mutation|January 21, 2021
SNPs associated with colorectal cancer at 15q13.3 affect risk enhancers that modulate GREM1 gene expressionBarbara K Fortini, Stephanie Tring, Matthew A Devall, et al.Human Mutation|August 27, 2020
Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degenerationSusan B Curtis, Laurie L Molday, Fabian A Garces, et al.Human Mutation|December 9, 2021
Unraveling the molecular basis underlying nine putative splice site variants of von Willebrand factorQian Liang, Xiaoyi Lin, Xi Wu, et al.Human Mutation|February 15, 2019
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlationsWei-Zhen Zhou, Jie Zhang, Ziyi Li, et al.Human Mutation|June 18, 2011
Mutations in NOTCH2 in families with Hajdu-Cheney syndromeJacek Majewski, Jeremy A Schwartzentruber, Aurore Caqueret, et al.Human Mutation|June 18, 2011
N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapySandra K Heibel, Nicholas Ah Mew, Ljubica Caldovic, et al.Human Mutation|July 26, 2011
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathyLouise Galmiche, Valérie Serre, Marine Beinat, et al.Pageof 583