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Human Mutation|September 27, 2021
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during feverJean-Marie Ravel, Natacha Dreumont, Pauline Mosca, et al.Human Mutation|February 18, 2022
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseasesSteven Laurie, Davide Piscia, Leslie Matalonga, et al.Human Mutation|February 22, 2022
Variant-level matching for diagnosis and discovery: Challenges and opportunitiesEliete da S Rodrigues, Sean Griffith, Renan Martin, et al.Human Mutation|February 15, 2022
Novel CIC variants identified in individuals with neurodevelopmental phenotypesSaloni Sharma, Brenna Hourigan, Zain Patel, et al.Human Mutation|February 16, 2022
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published casesNancy Vegas, Zeynep Demir, Christopher T Gordon, et al.Human Mutation|February 22, 2022
Estimating the proportion of pathogenic variants from breast cancer case-control data: Application to calibration of ACMG/AMP variant classification criteriaPaul A James, Cristina Fortuno, Na Li, et al.Human Mutation|April 30, 2019
Modified U1 snRNA and antisense oligonucleotides rescue splice mutations in SLC26A4 that cause hereditary hearing lossByeonghyeon Lee, Ye-Ri Kim, Sang-Joo Kim, et al.Human Mutation|April 30, 2019
Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defectAlice Fiévet, Dorine Bellanger, Stéphanie Valence, et al.Human Mutation|May 16, 2019
Predicting the impact of single nucleotide variants on splicing via sequence-based deep neural networks and genomic featuresTatsuhiko NaitoHuman Mutation|August 19, 2018
Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implicationsNiti Kumari, Aman Kumar, Babu Ram Thapa, et al.Pageof 583