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Human Mutation|April 8, 2022
STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing dataAndreas Halman, Egor Dolzhenko, Alicia OshlackHuman Mutation|March 28, 2022
Phenotypic and mutational spectrum of ROR2-related Robinow syndromeAriadne R Lima, Barbara M Ferreira, Chaofan Zhang, et al.Human Mutation|September 4, 2018
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlationsDídac Casas-Alba, Antonio Martínez-Monseny, Rosa M Pino-Ramírez, et al.Human Mutation|September 28, 2018
The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessmentÁgnes Mikó, Dóra K Menyhárd, Ambrus Kaposi, et al.Human Mutation|August 30, 2018
Association analysis of exome variants and refraction, axial length, and corneal curvature in a European-American populationCandelaria Vergara, Samantha M Bomotti, Cristian Valencia, et al.Human Mutation|October 13, 2018
ClinGen's GenomeConnect registry enables patient-centered data sharingJuliann M Savatt, Danielle R Azzariti, W Andrew Faucett, et al.Human Mutation|October 13, 2018
The progression of the ClinGen gene clinical validity classification over timeJennifer L McGlaughon, Jennifer L Goldstein, Courtney Thaxton, et al.Human Mutation|October 13, 2018
The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomicsAlice B Popejoy, Deborah I Ritter, Kristy Crooks, et al.Human Mutation|October 13, 2018
ClinGen Allele Registry links information about genetic variantsPiotr Pawliczek, Ronak Y Patel, Lillian R Ashmore, et al.Human Mutation|October 13, 2018
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variantsKristy Lee, Kate Krempely, Maegan E Roberts, et al.Pageof 583