Publications by authors named "Madhuri R Hegde"

42Publications

Early and Consistent Pattern of Proximal Weakness In GNE Myopathy.

Muscle Nerve 2020 Nov 16. Epub 2020 Nov 16.

PerkinElmer Genomics, Adjunct Professor, Georgia Institute of Technology, Atlanta, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.27117DOI Listing
November 2020

Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing.

J Genet Genomics 2018 Jun 6. Epub 2018 Jun 6.

Division of Human Genetics, Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Human Aging Research Institute, Nanchang University, Nanchang 330031, China. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jgg.2018.06.001DOI Listing
June 2018

Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.

Genome Med 2017 12 18;9(1):111. Epub 2017 Dec 18.

Department of Human Genetics, Emory University, Atlanta, GA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13073-017-0508-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733812PMC
December 2017

Regulating whole exome sequencing as a diagnostic test.

Hum Genet 2016 06 11;135(6):655-73. Epub 2016 May 11.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-016-1677-3DOI Listing
June 2016

Genomic Sequencing Procedure Microcosting Analysis and Health Economic Cost-Impact Analysis: A Report of the Association for Molecular Pathology.

J Mol Diagn 2016 05 13;18(3):319-328. Epub 2016 Apr 13.

Genomic Sequencing Procedures Pricing Project Oversight Committee, a Working Group of the Association for Molecular Pathology Economic Affairs Committee, Bethesda, Maryland; Department of Pathology, University of Iowa, Iowa City, Iowa.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmoldx.2015.11.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212689PMC
May 2016

Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.

Hum Mutat 2016 06 18;37(6):559-63. Epub 2016 Mar 18.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22982DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4846518PMC
June 2016

Response to Saul.

Genet Med 2015 Sep;17(9):761

Emory Genetics Laboratory, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2015.114DOI Listing
September 2015

Gamut of genetic testing for neonatal care.

Clin Perinatol 2015 Jun 31;42(2):217-26, vii. Epub 2015 Mar 31.

Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clp.2015.02.001DOI Listing
June 2015

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.

Ann Neurol 2015 Feb 17;77(2):206-14. Epub 2014 Dec 17.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.24303DOI Listing
February 2015

Clinical applications and implications of common and founder mutations in Indian subpopulations.

Hum Mutat 2015 Jan 27;36(1):1-10. Epub 2014 Nov 27.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22704DOI Listing
January 2015

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

Genet Med 2015 Jun 18;17(6):444-51. Epub 2014 Sep 18.

Emory Genetics Laboratory, Department of Human Genetics, Emory University, Atlanta, Georgia, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/gim2014122
Publisher Site
http://dx.doi.org/10.1038/gim.2014.122DOI Listing
June 2015

College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.

Arch Pathol Lab Med 2015 Apr 25;139(4):481-93. Epub 2014 Aug 25.

From Molecular Medicine (Dr Aziz), Laboratory Improvement Programs (Dr Zhao and Ms Palicki), and Laboratory Accreditation and Regulatory Affairs (Ms Driscoll), College of American Pathologists, Northfield, Illinois; the Department of Pathology, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts (Dr Bry); the Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts (Dr Funke); the Department of Clinical Sciences, University of Central Florida College of Medicine, Orlando (Dr Gibson); the Divisions of Medical Genetics and Molecular Diagnostics, Department of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, UCLA Institute for Society and Genetics, Molecular Diagnostic Laboratories and Clinical Genomics Center, UCLA Medical Center, Los Angeles, California (Dr Grody); the Department of Human Genetics, Emory University School of Medicine, Decatur, Georgia (Dr Hegde); Robert J. Tomsich Pathology & Laboratory Medicine Institute, Cleveland Clinic, Cleveland, Ohio (Dr Hoeltge); the Department of Pathology, University of Vermont College of Medicine, Burlington (Dr Leonard); the Departments of Pathology (Drs Merker and Schrijver) and Pediatrics (Dr Schrijver), Stanford University School of Medicine, Stanford, California; the Department of Pathology & Immunology, Washington University School of Medicine, St Louis, Missouri (Dr Nagarajan); the Department of Laboratory Medicine & Pathology, Mayo Clinic in Arizona, Phoenix (Dr Robetorye); the Departments of Pathology & Laboratory Medicine and Genetics, University of North Carolina at Chapel Hill, Chapel Hill (Dr Weck); and ARUP Laboratories Institute for Clinical and Experimental Pathology, and Department of Pathology, University of Utah School of Medicine, Salt Lake City (Dr Voelkerding). Dr Aziz is now with Phoenix Children's Hospital, Phoenix, Arizona.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5858/arpa.2014-0250-CPDOI Listing
April 2015

Genetic variation in dihydropyrimidine dehydrogenase (DPYD) gene in a healthy adult Indian population.

Ann Hum Biol 2015 Jan 13;42(1):97-100. Epub 2014 Aug 13.

Food Engineering & Technology Department, Institute of Chemical Technology , Matunga, Mumbai , India and.

View Article

Download full-text PDF

Source
http://www.tandfonline.com/doi/full/10.3109/03014460.2014.94
Publisher Site
http://dx.doi.org/10.3109/03014460.2014.942365DOI Listing
January 2015

Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies.

Muscle Nerve 2014 Sep 16;50(3):333-9. Epub 2014 Jun 16.

Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, Georgia, 30322, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.24195DOI Listing
September 2014

ACMG clinical laboratory standards for next-generation sequencing.

Genet Med 2013 Sep 25;15(9):733-47. Epub 2013 Jul 25.

Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
https://www.acmg.net/docs/ACMG_Lab_Standards_Next_Generation
Web Search
http://www.nature.com/doifinder/10.1038/gim.2013.92
Publisher Site
http://dx.doi.org/10.1038/gim.2013.92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4098820PMC
September 2013

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Hum Mutat 2013 Sep 5;34(9):1183-8. Epub 2013 Aug 5.

Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22364DOI Listing
September 2013

Ancestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective.

Muscle Nerve 2013 Jun 11;47(6):931-7. Epub 2013 May 11.

Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, Georgia 30322, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.23763DOI Listing
June 2013

Determination of common genetic variants in cytidine deaminase (CDA) gene in Indian ethnic population.

Gene 2013 Jul 21;524(1):35-9. Epub 2013 Apr 21.

Food Engineering and Technology Department, Institute of Chemical Technology, Matunga, Mumbai-400019, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2013.04.015DOI Listing
July 2013

Marching towards personalized genomic medicine.

Authors:
Madhuri R Hegde

J Pediatr 2013 Jan 10;162(1):10-1. Epub 2012 Nov 10.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2012.09.046DOI Listing
January 2013

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

Am J Hum Genet 2012 Apr 22;90(4):685-8. Epub 2012 Mar 22.

Genetic Disease Program, Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute, La Jolla, CA 92037, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2012.02.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3322218PMC
April 2012

Identification of deletions and duplications in the Duchenne muscular dystrophy gene and female carrier status in western India using combined methods of multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification.

Neurol India 2011 Nov-Dec;59(6):803-9

Department of Molecular Biology, Institute for Advanced Training and Research in Interdisciplinary Sciences (IATRIS), Therapeutic Drug Monitoring Laboratory, Sion (East), Mumbai 400 002, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/0028-3886.91355DOI Listing
March 2012

A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.

J Mol Diagn 2010 Sep 15;12(5):607-10. Epub 2010 Jul 15.

Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2353/jmoldx.2010.100011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2928424PMC
September 2010

Empirical evaluation of oligonucleotide probe selection for DNA microarrays.

PLoS One 2010 Mar 29;5(3):e9921. Epub 2010 Mar 29.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0009921PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2847945PMC
March 2010

Genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC).

Curr Protoc Hum Genet 2009 Apr;Chapter 10:Unit 10.12

Emory University, Atlanta, Georgia, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/0471142905.hg1012s61DOI Listing
April 2009

Microarray-based mutation detection in the dystrophin gene.

Hum Mutat 2008 Sep;29(9):1091-9

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.20831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2574813PMC
September 2008

Detecting mutations in the APC gene in familial adenomatous polyposis (FAP).

Curr Protoc Hum Genet 2006 Aug;Chapter 10:Unit 10.8

Baylor College of Medicine, Houston, Texas, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/0471142905.hg1008s50DOI Listing
August 2006

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

Genet Med 2008 Apr;10(4):294-300

Department of Molecular and Medical Genetics, Oregon Health Science University, Portland, Oregon 97239, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/GIM.0b013e31816b5caeDOI Listing
April 2008

Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea.

Neurol India 2006 Sep;54(3):293-5

Department of Neurology, Grant Medical College and Sir JJ Group of Hospitals, Mumbai, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/0028-3886.27157DOI Listing
September 2006

A homozygous mutation in MSH6 causes Turcot syndrome.

Clin Cancer Res 2005 Jul;11(13):4689-93

Diagnostic Sequencing Laboratory, Department of Molecular and Human Genetics and Texas Children's Cancer Center, Houston, Texas 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1158/1078-0432.CCR-04-2025DOI Listing
July 2005