Madhuri Hegde

Madhuri Hegde

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Madhuri Hegde

Publications by authors named "Madhuri Hegde"

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Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion.

Muscle Nerve 2019 07 29;60(1):98-103. Epub 2019 Apr 29.

Department of Human Genetics, Emory University School of Medicine, Whitehead Building Suite 301, 615 Michael Street NE, Georgia, USA.

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http://dx.doi.org/10.1002/mus.26486DOI Listing
July 2019

Response to Biesecker and Harrison.

Genet Med 2018 12;20(12):1689-1690

Partners Laboratory for Molecular Medicine and Department of Pathology, Brigham & Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2018.43DOI Listing
December 2018

Clinical Utility of Transcriptome Sequencing: Toward a Better Diagnosis for Mendelian Disorders.

Clin Chem 2018 06 2;64(6):882-884. Epub 2017 Nov 2.

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

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http://dx.doi.org/10.1373/clinchem.2017.276980DOI Listing
June 2018

Inferring the effect of genomic variation in the new era of genomics.

Hum Mutat 2018 06 22;39(6):756-773. Epub 2018 Apr 22.

Department of Human Genetics, Emory University School of Medicine, Whitehead Biomedical Research Building Suite 301, Atlanta, Georgia.

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http://dx.doi.org/10.1002/humu.23427DOI Listing
June 2018

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:

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

Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

Pediatr Neurol 2017 Dec 6;77:61-66. Epub 2017 Sep 6.

Department of Human Genetics, Emory University, Atlanta, Georgia. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.09.003DOI Listing
December 2017

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.

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

Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies.

Annu Rev Genomics Hum Genet 2017 08 17;18:229-256. Epub 2017 Apr 17.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322; email:

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http://www.annualreviews.org/doi/10.1146/annurev-genom-08311
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http://dx.doi.org/10.1146/annurev-genom-083115-022545DOI Listing
August 2017

Genetic Testing for Hereditary Nonpolyposis Colorectal Cancer (HNPCC).

Curr Protoc Hum Genet 2017 07 11;94:10.12.1-10.12.23. Epub 2017 Jul 11.

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

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http://dx.doi.org/10.1002/cphg.40DOI Listing
July 2017

Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.

Arch Pathol Lab Med 2017 Jun 21;141(6):787-797. Epub 2017 Mar 21.

From the Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (Dr Santani); the Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (Drs Santani, Murrell, and Yu); the Department of Pathology, MGH/Harvard Medical School, Boston, Massachusetts (Dr Funke); the Laboratory for Molecular Medicine at Partners HealthCare, Personalized Medicine, Cambridge, Massachusetts (Dr Funke); the Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia (Dr Hegde); the Department of Pathology, ARUP Laboratories Institute for Clinical and Experimental Pathology (Dr Mao) and the Department of Pathology (Dr Voelkerding), University of Utah School of Medicine, Salt Lake City; the Division of Molecular Diagnostics, Department of Pathology, Virginia Commonwealth University, Richmond (Dr Ferreira-Gonzalez); Genomics and Bioinformatics, ARUP Laboratories, Salt Lake City, Utah (Dr Voelkerding); and the Department of Pathology and Laboratory Medicine and Genetics, University of North Carolina at Chapel Hill (Dr Weck).

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http://dx.doi.org/10.5858/arpa.2016-0517-RADOI Listing
June 2017

Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.

Arch Pathol Lab Med 2017 Jun 31;141(6):798-805. Epub 2017 Mar 31.

From the Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia (Dr Hegde); the Department of Clinical Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (Dr Santani); the Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (Dr Santani); the Department of Pathology, ARUP Laboratories Institute for Clinical and Experimental Pathology, and University of Utah School of Medicine, Salt Lake City (Drs Mao and Voelkerding); the Division of Molecular Diagnostics, Department of Pathology, Virginia Commonwealth University, Richmond (Dr Ferreira-Gonzalez); and the Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill (Dr Weck).

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http://dx.doi.org/10.5858/arpa.2016-0622-RADOI Listing
June 2017

A report on GNE myopathy: Individuals of Rajasthan ancestry share the Roma gene.

J Neurol Sci 2017 04 3;375:239-240. Epub 2017 Feb 3.

Department of Neurology, Grant Government Medical College and J.J. Hospital, Byculla, Mumbai, Maharashtra 400008, India.

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http://dx.doi.org/10.1016/j.jns.2017.02.005DOI Listing
April 2017

Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.

Genet Med 2017 01 16;19(1):77-82. Epub 2016 Jun 16.

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

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http://dx.doi.org/10.1038/gim.2016.67DOI Listing
January 2017

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

Epilepsy Res 2017 01 6;129:17-25. Epub 2016 Nov 6.

Department of Human Genetics, Emory University, Atlanta, GA 30322, United States. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2016.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321682PMC
January 2017

Detecting APC Gene Mutations in Familial Adenomatous Polyposis (FAP).

Curr Protoc Hum Genet 2017 01 11;92:10.8.1-10.8.16. Epub 2017 Jan 11.

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

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http://dx.doi.org/10.1002/cphg.29DOI Listing
January 2017

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

Genet Med 2016 12 26;18(12):1282-1289. Epub 2016 May 26.

Partners HealthCare Personalized Medicine, Laboratory for Molecular Medicine, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2016.58DOI Listing
December 2016

Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1.

Genet Med 2016 12 2;18(12):1290-1294. Epub 2016 Jun 2.

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

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http://dx.doi.org/10.1038/gim.2016.59DOI Listing
December 2016

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.

Am J Hum Genet 2016 Nov 27;99(5):1140-1149. Epub 2016 Oct 27.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA; Emory Genetics Laboratory, Decatur, GA 30033, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.09.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097932PMC
November 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.

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

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.

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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.

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http://dx.doi.org/10.1016/j.jmoldx.2015.11.010DOI Listing
May 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.

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

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

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http://dx.doi.org/10.1016/j.clp.2015.02.001DOI 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.

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

Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular Pathology.

J Mol Diagn 2015 Mar 12;17(2):107-17. Epub 2015 Feb 12.

Incidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah; Department of Molecular Genetics, ARUP Laboratories, Salt Lake City, Utah.

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http://dx.doi.org/10.1016/j.jmoldx.2014.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5707203PMC
March 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.

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

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

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

Molecular diagnosis of Duchenne muscular dystrophy.

Curr Protoc Hum Genet 2014 Oct 1;83:9.25.1-29. Epub 2014 Oct 1.

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

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http://dx.doi.org/10.1002/0471142905.hg0925s83DOI Listing
October 2014

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.

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

A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides.

Ann Clin Transl Neurol 2014 Sep 27;1(9):703-20. Epub 2014 Sep 27.

Neurology Department, University of Massachusetts Medical School Worcester, Massachusetts, 01605.

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http://dx.doi.org/10.1002/acn3.96DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241797PMC
September 2014

Genetic and epigenetic determinants of low dysferlin expression in monocytes.

Hum Mutat 2014 Aug 24;35(8):990-7. Epub 2014 Jun 24.

Laboratori de Malalties Neuromusculars, Institut de Recerca de HSCSP, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.

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http://dx.doi.org/10.1002/humu.22591DOI Listing
August 2014

Glycosylation, hypogammaglobulinemia, and resistance to viral infections.

N Engl J Med 2014 Apr 9;370(17):1615-1625. Epub 2014 Apr 9.

Infectious Diseases Susceptibility Unit, Laboratory of Host Defenses (M.A.S., N.H., E.N., R.M., M.G., S.D.R.), Laboratory of Immunoregulation (S.M., T.-W.C., P.L., L.J.Y.K., A.L., R.C., J.S.J., D.M.), Laboratory of Infectious Diseases (M.J.M., T.B.), Laboratory of Clinical Infectious Diseases (B.E.M.), Laboratory of Immunogenetics (G.H., D.S., P.S.), and Primary Immunodeficiency Clinic (S.D.R.), National Institute of Allergy and Infectious Diseases, the Undiagnosed Diseases Program, National Human Research Genome Institute (L.W., H.V., Y.H. D.A., C.F.B.), the Department of Laboratory Medicine, Clinical Center (K.R.C., J.S.), and Oral and Pharyngeal Cancer Branch (V.P.) and Adeno-Associated Virus Biology Section (J.A.C., G.D.P.), National Institute of Dental and Craniofacial Research - all at the National Institutes of Health, Bethesda, the Center for Biologics Evaluation and Research (G.K., J.J.) and the Center for Drug Evaluation and Research (D.C.I., C.G., D.V.), Food and Drug Administration Clinical Services Program, Silver Spring, and SAIC-Frederick, Frederick National Laboratory for Cancer Research, Frederick (D.A.L.P., D.B.K.) - all in Maryland; the Department of Human Genetics, Emory University School of Medicine, Atlanta (M. He, M. Hegde); and the IAVI (International AIDS Vaccine Initiative) Center for Neutralizing Antibodies at TSRI and the Department of Immunology and Microbial Science, Scripps Research Institute, La Jolla, CA (Y.L.).

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http://dx.doi.org/10.1056/NEJMoa1302846DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066413PMC
April 2014

Genomic technologies and the new era of genomic medicine.

J Mol Diagn 2014 Jan 21;16(1):7-10. Epub 2013 Nov 21.

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

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http://dx.doi.org/10.1016/j.jmoldx.2013.11.001DOI Listing
January 2014

Detection limit of intragenic deletions with targeted array comparative genomic hybridization.

BMC Genet 2013 Dec 5;14:116. Epub 2013 Dec 5.

Emory Genetics Laboratory, Department of Human Genetics, Emory University, 2165 N Decatur Road, Decatur, GA 30033, USA.

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http://dx.doi.org/10.1186/1471-2156-14-116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235222PMC
December 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.

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

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.

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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

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.

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

Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.

J Mol Diagn 2013 Jul 13;15(4):518-25. Epub 2013 May 13.

Division of Laboratory Science and Standards, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA.

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http://dx.doi.org/10.1016/j.jmoldx.2013.03.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3699699PMC
July 2013

Implementing genomic medicine in pathology.

Adv Anat Pathol 2013 Jul;20(4):238-44

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

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http://dx.doi.org/10.1097/PAP.0b013e3182977199DOI Listing
July 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.

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

Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations.

BMC Genet 2013 Feb 19;14. Epub 2013 Feb 19.

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

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http://dx.doi.org/10.1186/1471-2156-14-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599218PMC
February 2013

Marching towards personalized genomic medicine.

Authors:
Madhuri R Hegde

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

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

Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease.

Orphanet J Rare Dis 2012 Jun 15;7:38. Epub 2012 Jun 15.

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

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http://dx.doi.org/10.1186/1750-1172-7-38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404939PMC
June 2012

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.

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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.

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

The virtual diagnostic laboratory: a new way of teaching undergraduate medical students about genetic testing.

Genet Med 2011 Nov;13(11):973-7

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30306, USA.

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http://dx.doi.org/10.1097/GIM.0b013e318225ac13DOI Listing
November 2011

MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.

Indian J Hum Genet 2011 Jan;17(1):29-32

Department of Human Genetics, Emory University School of Medicine, 2165 North Decatur Road, Decatur, GA 30033, USA.

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http://dx.doi.org/10.4103/0971-6866.82190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3144685PMC
January 2011

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.

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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.

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

Novel human pathological mutations. Gene symbol: DMD. Disease: Muscular Dystrophy, Duchenne.

Hum Genet 2010 Jan;127(1):109

Department of Pediatrics, University of Kansas Medical Center, Kansas City, Kansas 66160, USA.

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January 2010

Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.

Neurol India 2009 Jul-Aug;57(4):406-10

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

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http://dx.doi.org/10.4103/0028-3886.55603DOI Listing
November 2009

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications.

Genet Med 2009 Apr;11(4):232-40

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

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http://dx.doi.org/10.1097/GIM.0b013e318195e191DOI Listing
April 2009

Genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC).

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

Emory University, Atlanta, Georgia, USA.

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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.

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

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.

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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.

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September 2006

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.

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