Shivarajan Amudhavalli

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

Ana S.A. Cohen, Emily Farrow, Ahmed Abdelmoity et al. · Genetics in Medicine · 2022 · 88 citations · Full text

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, Norine Voisin et al. · The American Journal of Human Genetics · 2021 · 54 citations · Full text

Neurodevelopmental Disorders, Different Neurodevelopmental Disorders, Neurodegenerative Diseases +15

Deletion of <i>MAP2K2/MEK2</i>: a novel mechanism for a RASopathy?

M.J.M. Nowaczyk, Brandi Thompson, Susan Zeesman et al. · Clinical Genetics · 2013 · 36 citations · Full text

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

Elizabeth Bhoj, Damien Haye, Annick Toutain et al. · European Journal of Medical Genetics · 2018 · 35 citations · Full text

Molecular Diagnostic Techniques, Opitz Gbbb, Baraitser-winter Syndromes +13

A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder

Laura Cross, Kirsty McWalter, Jennifer Keller‐Ramey et al. · Clinical Dysmorphology · 2020 · 32 citations

Laura A., Developmental Anomaly, Literary History +13