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Brain : a Journal of Neurology|October 23, 2019
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegiaFrédéric M Vaz, John H McDermott, Mariëlle Alders, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndromeSara Cuvertino, Verity Hartill, Alice Colyer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2020
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndromeSara Cuvertino, Verity Hartill, Alice Colyer, et al.
The British Journal of Dermatology|August 20, 2022
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndromeYanshan Liu, Siddharth Banka, Yingzhi Huang, et al.
American Journal of Human Genetics|January 13, 2026
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathiesNataliya Di Donato, , Andrew Thom, et al.
American Journal of Human Genetics|December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
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