Aditi Shah Parikh

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld et al. · The American Journal of Human Genetics · 2011 · 246 citations · Full text

Medicine, Genetics, Molecular Genetics +17

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti et al. · JCI Insight · 2016 · 190 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome

Yuri A. Zárate, Constance Smith‐Hicks, Carol L. Greene et al. · American Journal of Medical Genetics Part A · 2018 · 75 citations

Medicine, Speech-language Pathology, Articulation Disorders +16

The Prevalence of Congenital Hearing Loss in Neonates with Down Syndrome

Adrienne S. Tedeschi, Nancy Roizen, H. Gerry Taylor et al. · The Journal of Pediatrics · 2014 · 43 citations

Medicine, Audiology, Pediatrics +14

De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity

Jaime Vengoechea, Aditi Shah Parikh, Shulin Zhang et al. · European Journal of Human Genetics · 2012 · 30 citations · Full text

Medicine, Genetics, Molecular Genetics +14