Madhuri Hegde - Concepedia

Author

Madhuri Hegde

Also Known As

Bayrak-Toydemir, Pinar, Berg, Jonathan S., Elizabeth Vengoechea, Funke, Birgit, Hegde, M, Hegde, Madhuri Ramchandra, Lennon, Patrick Alan, M Hegde, M R Hegde, M. HEGDE

284

Publications

39.9K

Citations

H-Index

145

Concepts

All Affiliations

Emory University Baylor College of Medicine PerkinElmer (United States)Harvard University Children's Hospital of Philadelphia

About

Madhuri Hegde is an author at Emory University specializing in medicine, genetics, and molecular diagnostics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	34	48	35.6K
2	Engineering	5	5	1.3K
3	Health Sciences	2	2	119
4	Education	1	1	29
5	Natural Sciences	1	1	54

Madhuri Hegde

Publications

38K

Citations

H-Index

Page 1

	Year	Citations
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, Sherri J. Bale, Genetics in Medicine Allelic VariantSequence VariantsMedicineGeneticsAmerican College	2015	30.5K
ACMG clinical laboratory standards for next-generation sequencing Heidi L. Rehm, Sherri J. Bale, Pınar Bayrak‐Toydemir, Genetics in Medicine Translational MedicineDna SequencingSequencingMedicineNext-generation Sequencing	2013	910
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007 C. Sue Richards, Sherri J. Bale, Daniel B. Bellissimo, Genetics in Medicine EngineeringMedicineReporting StandardSoftware TestingAcmg Recommendations	2008	814
College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests Nazneen Aziz, Qin Zhao, Lynn Bry, Archives of Pathology & Laboratory Medicine	2014	376
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing Diana Mandelker, Ryan J. Schmidt, Arunkanth Ankala, Genetics in Medicine EngineeringGeneticsMolecular BiologyMolecular GeneticsGenomics	2016	237
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway Gregory M. Enns, Vandana Shashi, Matthew N. Bainbridge, Genetics in Medicine GeneticsEndocytic PathwayProtein DegradationInherited DisorderMolecular Genetics	2014	236
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, Steven M. Harrison, Human Mutation Clinical Genome ResourceEngineeringGeneticsGenetic EpidemiologyPathology	2018	205
Genetic landscape and novel disease mechanisms from a large <scp>LGMD</scp> cohort of 4656 patients Babi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari, Annals of Clinical and Translational Neurology	2018	181
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis) Madhuri Hegde, Mathew Ferber, Rong Mao, Genetics in Medicine Genetic TestingOncologyCancer PathologyInherited Colorectal CancerMedicine	2013	174
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield Arunkanth Ankala, Cristina da Silva, Francesca Gualandi, Annals of Neurology	2014	166

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