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American Journal of Medical Genetics. Part A|March 4, 2020
Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndromeMorasha Plesser Duvdevani, Maria Pettersson, Jesper Eisfeldt, et al.American Journal of Medical Genetics. Part A|March 6, 2020
Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defectsAna S A Cohen, Christopher Simotas, Bryn D Webb, et al.American Journal of Medical Genetics. Part A|January 23, 2019
Simpson-Golabi-Behmel syndrome with 46,XY disorders of sex development: A case reportQian Fu, Hui Wang, Zhan Qi, et al.American Journal of Medical Genetics. Part A|January 24, 2019
Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2Michael Muriello, Alexander Y Kim, Krista Sondergaard Schatz, et al.American Journal of Medical Genetics. Part A|November 23, 2019
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathiesKatta M Girisha, Gandham S Bhavani, Hitesh Shah, et al.American Journal of Medical Genetics. Part A|December 5, 2018
Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsyXiuhua Bozarth, Jennifer N Dines, Qian Cong, et al.American Journal of Medical Genetics. Part A|January 25, 2019
ALG11-CDG syndrome: Expanding the phenotypeMaria K Haanpää, Bobby G Ng, Natalie M Gallant, et al.American Journal of Medical Genetics. Part A|January 29, 2019
Schuurs-Hoeijmakers syndrome in a patient from IndiaAtanu Kumar DuttaAmerican Journal of Medical Genetics. Part A|January 29, 2019
Twenty-four-hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith-Magenis syndrome, a neurodevelopmental disorderAnn C M Smith, Rebecca S Morse, Wendy Introne, et al.American Journal of Medical Genetics. Part A|December 4, 2020
Familial cardio-facio-cutaneous syndrome: Vertical transmission of the BRAF p.G464R pathogenic variant and review of the literatureKatherine A Rauen, Yoshiko Maeda, Alena Egense, et al.Pageof 928