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American Journal of Medical Genetics. Part A|July 2, 2021
Functional analysis of novel genetic variants of NKX2-5 associated with nonsyndromic congenital heart diseaseRitu Dixit, Chitra Narasimhan, Vijayalakshmi I Balekundri, et al.American Journal of Medical Genetics. Part A|July 7, 2021
EPHB4 mutation causes adult and adolescent-onset primary lymphedemaArin K Greene, Pascal Brouillard, Christopher L Sudduth, et al.American Journal of Medical Genetics. Part A|July 13, 2021
Somatic KRAS mutation affecting codon 146 in linear sebaceous nevus syndromeSaloni Kapoor, Hannah L Scanga, Miguel Reyes-Múgica, et al.American Journal of Medical Genetics. Part A|May 26, 2022
Undiagnosed disease program in South Africa: Results from first 100 exomesShahida Moosa, Kimberly Christine Coetzer, Eugene Lee, et al.American Journal of Medical Genetics. Part A|May 14, 2022
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndromeAnita Kaw, Kaveeta Kaw, Ellen M Hostetler, et al.American Journal of Medical Genetics. Part A|July 23, 2021
Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal studyAnne-Marie Bisgaard, Kingsley Wong, Anne-Katrine Højfeldt, et al.American Journal of Medical Genetics. Part A|May 10, 2022
Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experienceAyca Burcu Kahraman, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, et al.American Journal of Medical Genetics. Part A|December 23, 2017
Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophiesNaseebullah Kakar, Denise Horn, Eva Decker, et al.American Journal of Medical Genetics. Part A|December 29, 2017
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicismTeresa Giugliano, Claudia Santoro, Annalaura Torella, et al.American Journal of Medical Genetics. Part A|December 10, 2022
Inversions on human chromosomesKlara Kosuthova, Roman SolcPageof 928