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Madhuri Hegde | Researchclopedia

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Madhuri Hegde

285

Works

40,631

Citations

50

h-index

115

i10-index

Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Muscle Physiology and Disorders

Affiliations

Leiden University2023–2023

Georgia Institute of Technology2017–2022

MACOM (United States)2014–2014

Emory Healthcare2016–2016

Children's Hospital of Philadelphia2023–2023

Top Works

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards,Nazneen Aziz,et al.

201531,212 citations

Cancer Genomics and Diagnostics

Genetic factors in colorectal cancer

ACMG clinical laboratory standards for next-generation sequencing

Heidi L. Rehm,Sherri J. Bale,et al.

2013914 citations

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

C. Sue Richards,Sherri J. Bale,et al.

2008821 citations

Assuring the quality of next-generation sequencing in clinical laboratory practice

Amy S. Gargis,Lisa V. Kalman,et al.

2012467 citations

College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests

Nazneen Aziz,Qin Zhao,et al.

2014398 citations

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

Yuan Xue,Arunkanth Ankala,et al.

2014352 citations

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

Diana Mandelker,Ryan J. Schmidt,et al.

2016243 citations

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Gregory M. Enns,Vandana Shashi,et al.

2014237 citations

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

E. Andres Rivera-Munoz,Laura V. Milko,et al.

2018211 citations