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Human Mutation|February 10, 2022
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective studyYu Sun, Jing Peng, Desheng Liang, et al.Human Mutation|February 10, 2022
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5-year experience with GeneMatcherMeghan C Towne, Mari Rossi, Bess Wayburn, et al.Human Mutation|February 15, 2022
PhenomeCentral: 7 years of rare disease matchmakingMatthew Osmond, Taila Hartley, Brittney Johnstone, et al.Human Mutation|April 27, 2022
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratodermaDouglas Ralph, Michael A Levine, Gabriele Richard, et al.Human Mutation|April 23, 2022
The transmission of human mitochondrial DNA in four-generation pedigreesQi Liu, Muhammad Faaras Iqbal, Tahir Yaqub, et al.Human Mutation|January 1, 1994
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutationsR G Roberts, R J Gardner, M BobrowHuman Mutation|January 1, 1994
High throughput and economical mutation detection and RFLP analysis using a minimethod for DNA preparation from whole blood and acrylamide gel electrophoresisF Rousseau, R Réhel, P Rouillard, et al.Human Mutation|January 1, 1994
Rapid and noninvasive screening of patients with mitochondrial myopathyN Kotsimbos, M J Jean-Francois, M Huizing, et al.Human Mutation|January 1, 1994
Detection of point mutations by solid-phase methodsA C Syvänen, U LandegrenHuman Mutation|January 1, 1994
Mutations in PAX3 associated with Waardenburg syndrome type IC T Baldwin, N R Lipsky, C F Hoth, et al.Pageof 582