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Swaroop Aradhya | Researchclopedia

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Swaroop Aradhya

MACOM (United States)ORCID

182

Works

12,177

Citations

44

h-index

83

i10-index

Research Topics

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

Affiliations

Broad Institute2023–2023

GenVec2012–2014

Northwestern University2021–2022

Boston Children's Hospital2023–2023

Lurie Children's Hospital2021–2022

Top Works

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

David T. Miller,Margaret P Adam,et al.

20102,855 citations

BRCA gene mutations in cancer

Genetics and Neurodevelopmental Disorders

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Erin Rooney Riggs,Erica Andersen,et al.

20191,704 citations

The DNA sequence of the human X chromosome

Mark T. Ross,Darren Grafham,et al.

20051,159 citations

Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti

Asma Smahi,S. Heuertz,et al.

2000737 citations

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Erin B. Kaminsky,Vineith Kaul,et al.

2011447 citations

A cross-disorder dosage sensitivity map of the human genome

Ryan L. Collins,Joseph Glessner,et al.

2022348 citations

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

Daniel Moreno‐De‐Luca,Jennifer G. Mullé,et al.

2010332 citations

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

David A. Koolen,Andrew J. Sharp,et al.

2008217 citations

Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

Elaine Chen,Flavia M. Facio,et al.

2023203 citations