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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.
Human Mutation|March 17, 2020
LEAP: Using machine learning to support variant classification in a clinical settingCarmen Lai, Anjali D Zimmer, Robert O'Connor, et al.
Human Mutation|November 2, 2019
The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disordersSouphatta Sasorith, David Baux, Anne Bergougnoux, et al.
Human Mutation|December 5, 2019
Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findingsLuiz G Dufner Almeida, Santoesha Nanhoe, Andrea Zonta, et al.
Human Mutation|February 15, 2020
Exome sequencing identifies the first genetic determinants of sirenomelia in humansFrançois Lecoquierre, Anne-Claire Brehin, Sophie Coutant, et al.
Human Mutation|January 14, 2020
A protein-centric approach for exome variant aggregation enables sensitive association analysis with clinical outcomesGinny X H Li, Dan Munro, Damian Fermin, et al.
Human Mutation|January 14, 2020
Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathicaHassan Vahidnezhad, Leila Youssefian, Soheila Sotoudeh, et al.
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