Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

Surabhi Mulchandani | Researchclopedia

Back to researchers

Surabhi Mulchandani

Children's Hospital of Philadelphia

24

Works

1,219

Citations

14

h-index

16

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Prenatal Screening and Diagnostics Genomics and Rare Diseases

Affiliations

Children's Hospital of Philadelphia2010–2024

University of Pennsylvania2012–2017

Philadelphia University2017–2017

Top Works

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Laura M. Amendola,Michael O. Dorschner,et al.

2015362 citations

Genetic Syndromes and Imprinting

Genetics and Neurodevelopmental Disorders

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

Surabhi Mulchandani,Elizabeth Bhoj,et al.

2015120 citations

“What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing

Marian Reiff,Barbara A. Bernhardt,et al.

2012113 citations

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

Cheryl DeScipio,Laura K. Conlin,et al.

201294 citations

Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders

Marian Reiff,Ellen Giarelli,et al.

201580 citations

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

Feng Li,Yiping Shen,et al.

201079 citations

Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy

Jennifer M. Kalish,Laura K. Conlin,et al.

201376 citations

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy

Jorune Balciuniene,Elizabeth T. DeChene,et al.

201966 citations

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families

Marian Reiff,Kathryn M. Ross,et al.

201264 citations