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Human Mutation|June 1, 2001
Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German populationH Gabriel, P Kupsch, J Sudendey, et al.
Human Mutation|November 16, 2019
DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertilityAlice Fiévet, Dorine Bellanger, Laila Zahed, et al.
Human Mutation|November 16, 2019
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathyAlexandre Janin, Valérie Chanavat, Pierre-Antoine Rollat-Farnier, et al.
Human Mutation|November 10, 2019
DualWMDR: Detecting epistatic interaction with dual screening and multifactor dimensionality reductionXia Cao, Guoxian Yu, Wei Ren, et al.
Human Mutation|December 10, 2019
High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular colobomaVijay K Kalaskar, Ramakrishna P Alur, LeeAnn K Li, et al.
Human Mutation|November 8, 2019
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathwaysSarah Duerinckx, Valérie Jacquemin, Séverine Drunat, et al.
Human Mutation|November 8, 2019
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegiaShen Gu, Chun-An Chen, Jill A Rosenfeld, et al.
Human Mutation|March 1, 2020
Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulationSimone Martinelli, Luca Pannone, Christina Lissewski, et al.
Human Mutation|March 21, 2020
Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variantsJune Y Hu, Ping Yang, Daniel J Wegner, et al.
Human Mutation|March 21, 2020
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathyGemma L Carvill, Katherine L Helbig, Candace T Myers, et al.
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