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American Journal of Medical Genetics. Part A|November 13, 2020
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analysesJorge L Granadillo, Daniel J Wegner, Alexander J Paul, et al.American Journal of Medical Genetics. Part A|November 16, 2020
A boy with Silver-Russell syndrome and Sotos syndromeEva M C Schwaibold, Jasmin Beygo, Katharina Obeid, et al.American Journal of Medical Genetics. Part A|October 20, 2020
Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?Lisa Pabst, Jennifer Carroll, Warren Lo, et al.American Journal of Medical Genetics. Part A|September 3, 2020
Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief reviewSusanna Rizzi, Carlotta Spagnoli, Grazia Gabriella Salerno, et al.American Journal of Medical Genetics. Part A|September 21, 2020
Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndromeDavid D Schwartz, Rachel H Fein, Claudia M B Carvalho, et al.American Journal of Medical Genetics. Part A|September 23, 2020
Further delineation of HIDEA syndromeSateesh Maddirevula, Tawfeg Ben-Omran, Mariam AlMureikhi, et al.American Journal of Medical Genetics. Part A|September 7, 2020
Prevalence rates study of selected isolated non-Mendelian congenital anomalies in the Hutterite population of Alberta, 1980-2016R Brian Lowry, Tanya Bedard, Susan Crawford, et al.American Journal of Medical Genetics. Part A|September 9, 2020
Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndromeAnna H Hakonen, Johanna Lehtonen, Sirpa Kivirikko, et al.American Journal of Medical Genetics. Part A|September 16, 2020
The first reported case of Loeys-Dietz syndrome in a patient with biallelic SMAD3 variantsStephanie M Baskin, Shaine A Morris, Autumn Vara, et al.American Journal of Medical Genetics. Part A|September 25, 2020
Extremity anomalies associated with Robinow syndromeAmjed Abu-Ghname, Jeffrey Trost, Matthew J Davis, et al.Pageof 928