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Human Mutation|November 16, 2018
A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratodermaLeila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, et al.
Human Mutation|April 12, 2017
DaMold: A data-mining platform for variant annotation and visualization in molecular diagnostics researchRam Vinay Pandey, Stephan Pabinger, Albert Kriegner, et al.
Human Mutation|April 6, 2019
Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traitsOsatohanmwen J Enogieru, Peter M U Ung, Sook Wah Yee, et al.
Human Mutation|July 26, 2019
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016Wyatt T Clark, Laura Kasak, Constantina Bakolitsa, et al.
Human Mutation|September 12, 2022
Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertionsAimee L Davidson, Olga Kondrashova, Conrad Leonard, et al.
Human Mutation|July 4, 2012
Developing the "next generation" of genetic association databases for complex diseasesChristina M Lill, Lars Bertram
Human Mutation|July 4, 2012
Review and update of SPRED1 mutations causing Legius syndromeHilde Brems, Eric Pasmant, Rick Van Minkelen, et al.
Human Mutation|July 4, 2012
Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutationsJoanne E Martindale, Sara Seneca, Stefan Wieczorek, et al.
Human Mutation|July 4, 2012
ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis geneticsOlubunmi Abel, John F Powell, Peter M Andersen, et al.
Human Mutation|July 4, 2012
A modular approach to disease registry design: successful adoption of an internet-based rare disease registryMatthew I Bellgard, Andrew Macgregor, Fred Janon, et al.
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