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Human Mutation|December 25, 2018
A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression patternRojeen Niazi, Elizabeth A Fanning, Christel Depienne, et al.Human Mutation|January 4, 2020
Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemiaVinod Gupta, Anuja Kulkarni, Prashant Warang, et al.Human Mutation|September 16, 2020
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published casesXimena Montenegro-Garreaud, Adam W Hansen, Michael M Khayat, et al.Human Mutation|October 30, 2019
Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegiaCarmel G McCullough, Szabolcs Szelinger, Newell Belnap, et al.Human Mutation|September 1, 2005
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese originL Vilarinho, M L Cardoso, P Gaspar, et al.Human Mutation|September 1, 2005
Mutations in the holocarboxylase synthetase gene HLCSYoichi Suzuki, Xue Yang, Yoko Aoki, et al.Human Mutation|October 8, 2005
Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer familiesA A Tesoriero, E M Wong, M A Jenkins, et al.Human Mutation|October 8, 2005
Nine mutations including three novel mutations among Russian patients with acute intermittent porphyriaElena Pischik, Susanna Mehtälä, Raili KauppinenHuman Mutation|October 8, 2005
The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotypeMarc Trimborn, Reyk Richter, Nadine Sternberg, et al.Human Mutation|October 8, 2005
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemiaDelphine Allard, Sabine Amsellem, Marianne Abifadel, et al.Pageof 582