ShivarajanManickavasagam AmudhavalliMDM.B.B.S., D.C.H., M.R.C.P.C.H,

Clinical Genetics

Assistant Professor, Pediatrics, University of Missouri-Kansas City School of Medicine

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PubMed

5 citations
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fe...
Charlotte von der Lippe, Kristian Tveten, Trine Prescott, Øystein L. Holla, Øyvind L. Busk
American Journal of Medical Genetics. Part A. 2021-09-13
12 citations
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
William Boyce Burns, Lynne M. Bird, Delphine Héron, Boris Keren, Divya Ramachandra
American Journal of Medical Genetics. Part A. 2021-05-29
16 citations
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes inclu...
Jorge L. Granadillo, Alexander P.A. Stegmann, Hui Guo, Kun Xia, Brad Angle
Journal of Medical Genetics. 2020-10-01