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American Journal of Medical Genetics. Part A|October 23, 2021
Descriptive and risk factor analysis of infantile cataracts: National Birth Defects Prevention Study, 2000-2011Marine Nalbandyan, Meredith M Howley, Christopher M Cunniff, et al.
American Journal of Medical Genetics. Part A|February 7, 2022
Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers-Danlos syndromeNadirah Damseh, Lucie Dupuis, Constance O'Connor, et al.
American Journal of Medical Genetics. Part A|February 14, 2022
Platelet function and filamin A expression in two families with novel FLNA gene mutations associated with periventricular nodular heterotopia and panlobular emphysemaLaura M Tanner, Shinji Kunishima, Elina Lehtinen, et al.
American Journal of Medical Genetics. Part A|February 9, 2022
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literatureJames Taylor, Michael Spiller, Kara Ranguin, et al.
American Journal of Medical Genetics. Part A|February 18, 2022
Co-occurring anomalies in congenital oral cleftsClaude Stoll, Yves Alembik, Marie-Paule Roth
American Journal of Medical Genetics. Part A|February 22, 2022
Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohortSapna Sandal, Sunita Bijarnia Mahay, Nandita Dimri Gupta, et al.
American Journal of Medical Genetics. Part A|July 28, 2022
A retrospective cohort analysis of the Yale pediatric genomics discovery programSamir Al-Ali, Lauren Jeffries, E Vincent S Faustino, et al.
American Journal of Medical Genetics. Part A|July 29, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER dataAmy Hardcastle, Aliska M Berry, Ian M Campbell, et al.
American Journal of Medical Genetics. Part A|January 29, 2022
Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibilityAndrea M Murad, Hannah L Hill, Yu Wang, et al.
American Journal of Medical Genetics. Part A|January 29, 2022
Long-term follow-up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variantDilek Uludağ Alkaya, Zehra Oya Uyguner, Nilay Güneş, et al.
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