Madhuri Hegde PhD

Department of Pediatrics
Adjunct Professor

(404) 727-3863
madhuri.hegde@emory.edu

Academic Appointment

Associate Professor, Department of Human Genetics, Emory University School of Medicine
Adjunct Assistant Professor, M.D. Anderson Cancer Center School of Health Sciences, The University of Texas

Education

Degrees

PhD from University of Auckland, School of Biological Sciences
BS from University of Bombay
MSc from University of Bombay

Research

Focus

My research is focused on novel gene discovery and functional analysis of sequence variants in disease associated genes with neuromuscular disorders specifically Congenital Muscular Dystrophy, Limb Girdle Muscular Dystrophy and Duchenne Muscular Dystrophy and translating what is learned in the basic research laboratory to clinical practice.

Publications

Unveiling non-coding DMD variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis.
J Med Genet Volume: 62 Page(s): 97 - 106
01/27/2025 Authors: Pan Y; Nallamilli BRR; Liu R; Guruju N; Lesperance D; Ma Z; Mathur A; Banks K; Martin AS; Garca R
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent.
J Mol Diagn Volume: 26 Page(s): 510 - 519
06/01/2024 Authors: Duraisamy AJ; Liu R; Sureshkumar S; Rose R; Jagannathan L; da Silva C; Coovadia A; Ramachander V; Chandrasekar S; Raja I
More Than a Decade of Rapid Genomic Sequencing: Where Are We Now?
Clin Chem Volume: 70 Page(s): 577 - 583
04/03/2024 Authors: Saunders CJ; Brunelli L; Deem MJ; Farrow EG; Hegde M; Stark Z
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.
Hum Mutat Volume: 2024 Page(s): 9115364
01/01/2024 Authors: Guo F; Liu R; Pan Y; Colasanto M; Collins C; Hegde M
Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test.
Genet Med Volume: 26 Page(s): 100995
01/01/2024 Authors: Guo F; Liu R; Pan Y; Collins C; Bean L; Ma Z; Mathur A; Da Silva C; Nallamilli B; Guruju N
Hereditary Colorectal Cancer Diagnosis by Next-Generation Sequencing.
Curr Protoc Volume: 3 Page(s): e941
12/01/2023 Authors: Wen T; Ehivet F; Stanislaw C; Mao R; Hegde M
Cell-free DNA-based prenatal screening via rolling circle amplification: Identifying and resolving analytic issues.
J Med Screen Volume: 30 Page(s): 168 - 174
12/01/2023 Authors: Palomaki GE; Lambert-Messerlian GM; Fullerton D; Hegde M; Conotte S; Saidel ML; Jani JC
Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies.
Ann Clin Transl Neurol Volume: 10 Page(s): 2092 - 2104
11/01/2023 Authors: Nallamilli BRR; Pan Y; Sniderman King L; Jagannathan L; Ramachander V; Lucas A; Markind J; Colzani R; Hegde M
DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies.
Circ Genom Precis Med Volume: 16 Page(s): 421 - 430
10/01/2023 Authors: Johnson R; Otway R; Chin E; Horvat C; Ohanian M; Wilcox JAL; Su Z; Prestes P; Smolnikov A; Soka M
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.
JAMA Netw Open Volume: 6 Page(s): e2326445
07/03/2023 Authors: Balciuniene J; Liu R; Bean L; Guo F; Nallamilli BRR; Guruju N; Chen-Deutsch X; Yousaf R; Fura K; Chin E
Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis.
Mol Genet Metab Volume: 139 Page(s): 107565
05/01/2023 Authors: Sniderman King L; Pan Y; Nallamilli BRR; Hegde M; Jagannathan L; Ramachander V; Lucas A; Markind J; Colzani R
Diagnostic yield from prenatal exome sequencing for non-immune hydrops fetalis: A systematic review and meta-analysis.
Clin Genet Volume: 103 Page(s): 503 - 512
05/01/2023 Authors: Al-Kouatly HB; Shivashankar K; Mossayebi MH; Makhamreh M; Critchlow E; Gao Z; Fasehun L-K; Alkuraya FS; Ryan EE; Hegde M
Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy.
J Pers Med Volume: 13
03/13/2023 Authors: Rufibach L; Berger K; Chakravorty S; Emmons S; Long L; Gibson G; Hegde M
Molecular Diagnosis of Duchenne Muscular Dystrophy Using Single NGS-Based Assay.
Curr Protoc Volume: 3 Page(s): e669
02/01/2023 Authors: Nallamilli BRR; Guruju N; Jump V; Liu R; Hegde M
Testing for Facioscapulohumeral Muscular Dystrophy with Optical Genome Mapping.
Curr Protoc Volume: 3 Page(s): e629
01/01/2023 Authors: Koppikar P; Shenoy S; Guruju N; Hegde M
An Educational Assessment of Evidence Used for Variant Classification: A Report of the Association for Molecular Pathology.
J Mol Diagn Volume: 24 Page(s): 555 - 565
06/01/2022 Authors: Lyon E; Temple-Smolkin RL; Hegde M; Gastier-Foster JM; Palomaki GE; Richards CS
Clinical validation of a multiplex PCR-based detection assay using saliva or nasopharyngeal samples for SARS-Cov-2, influenza A and B.
Sci Rep Volume: 12 Page(s): 3480
03/03/2022 Authors: Sahajpal NS; Mondal AK; Ananth S; Njau A; Jones K; Ahluwalia P; Oza E; Ross TM; Kota V; Kothandaraman A
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing.
HGG Adv Volume: 3 Page(s): 100054
01/13/2022 Authors: Falzarano MS; Grilli A; Zia S; Fang M; Rossi R; Gualandi F; Rimessi P; El Dani R; Fabris M; Lu Z
Fetal pharmacogenomics: A promising addition to complex neonatal care.
Mol Genet Metab Volume: 137 Page(s): 140 - 145
01/01/2022 Authors: Raymond M; Critchlow E; Rice SM; Wodoslawsky S; Berger SI; Hegde M; Empey PE; Al-Kouatly HB
Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India.
J Neuromuscul Dis Volume: 9 Page(s): 571 - 580
01/01/2022 Authors: Khadilkar SV; Halani HA; Dastur R; Gaitonde PS; Oza H; Hegde M
Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med Volume: 23 Page(s): 1807 - 1817
10/01/2021 Authors: Mao R; Krautscheid P; Graham RP; Ganguly A; Shankar S; Ferber M; Hegde M; ACMG Laboratory Quality Assurance Committee
The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy.
Volume: 22 Page(s): 285 - 307
08/31/2021 Authors: Giles HH; Hegde MR; Lyon E; Stanley CM; Kerr ID; Garlapow ME; Eggington JM
Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology.
Curr Issues Mol Biol Volume: 43 Page(s): 958 - 964
08/17/2021 Authors: Gormus U; Chaubey A; Shenoy S; Wong YW; Chan LY; Choo BP; Oraha L; Gousseva A; Persson F; Prensky L
Clinical Validation of a Sensitive Test for Saliva Collected in Healthcare and Community Settings with Pooling Utility for Severe Acute Respiratory Syndrome Coronavirus 2 Mass Surveillance.
J Mol Diagn Volume: 23 Page(s): 788 - 795
07/01/2021 Authors: Sahajpal NS; Mondal AK; Ananth S; Njau A; Ahluwalia P; Kota V; Caspary K; Ross TM; Farrell M; Shannon MP
High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.
Genet Med Volume: 23 Page(s): 1325 - 1333
07/01/2021 Authors: Al-Kouatly HB; Makhamreh MM; Rice SM; Smith K; Harman C; Quinn A; Valcarcel BN; Firman B; Liu R; Hegde M
SalivaSTAT: Direct-PCR and Pooling of Saliva Samples Collected in Healthcare and Community Setting for SARS-CoV-2 Mass Surveillance.
Diagnostics (Basel) Volume: 11
05/19/2021 Authors: Sahajpal NS; Mondal AK; Ananth S; Njau A; Ahluwalia P; Newnam G; Lozoya-Colinas A; Hud NV; Kota V; Ross TM
A single NGS-based assaycovering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.
Hum Mutat Volume: 42 Page(s): 626 - 638
05/01/2021 Authors: Nallamilli BRR; Chaubey A; Valencia CA; Stansberry L; Behlmann AM; Ma Z; Mathur A; Shenoy S; Ganapathy V; Jagannathan L
Response to Biesecker et al.
Genet Med Volume: 23 Page(s): 793 - 794
04/01/2021 Authors: Shen JJ; Wortmann SB; Kluijtmans LAJ; Collins CD; van der Lee R; van Karnebeek CDM; Hegde MR
Advanced diagnostics and genotype-phenotype resolution using functional genomics in > 500 neuromuscular and neurological disorder patients
Volume: 132 Page(s): S110 - S111
04/01/2021 Authors: Chakravorty S; Gloster L; Berger K; Verma S; Logan R; Wicklund M; Harms M; Mozaffar T; Kimonis V; Hegde M
The role of clinical response to treatment in determining pathogenicity of genomic variants.
Genet Med Volume: 23 Page(s): 581 - 585
03/01/2021 Authors: Shen JJ; Wortmann SB; de Boer L; Kluijtmans LAJ; Huigen MCDG; Koch J; Ross S; Collins CD; van der Lee R; van Karnebeek CDM
Early and consistent pattern of proximal weakness in GNE myopathy.
Muscle Nerve Volume: 63 Page(s): 199 - 203
02/01/2021 Authors: Khadilkar SV; Chaudhari AD; Singla MB; Dastur RS; Gaitonde PS; Bhutada AG; Hegde MR
COVID-19 screening in ahealthcare or community setting: complexity of saliva as a specimen for PCR-based testing.
Future Med Chem Volume: 13 Page(s): 9 - 12
01/01/2021 Authors: Sahajpal NS; Mondal AK; Njau A; Ananth S; Ghamande S; Hegde M; Chaubey A; M Rojiani A; Kolhe R
Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy.
Ann Clin Transl Neurol Volume: 7 Page(s): 2541
12/01/2020 Authors: Nallamilli BRR; Chakravorty S; Kesari A; Bean L; Hegde M
Effective optimization of SARS-CoV-2 laboratory testing variables in an era of supply chain constraints.
Future Microbiol Page(s): 1483 - 1487
11/12/2020 Authors: S Sahajpal N; Mondal AK; Njau A; Ananth S; Jones K; Ahluwalia PK; Ahluwalia M; Jilani Y; Chaubey A; Hegde M
Proposal of RT-PCR-Based Mass Population Screening for Severe Acute Respiratory Syndrome Coronavirus 2 (Coronavirus Disease 2019).
J Mol Diagn Volume: 22 Page(s): 1294 - 1299
10/01/2020 Authors: Sahajpal NS; Mondal AK; Njau A; Ananth S; Jones K; Ahluwalia PK; Ahluwalia M; Jilani Y; Chaubey A; Hegde M
Low-Pass Genome Sequencing: Validation and Diagnostic Utility from 409 Clinical Cases of Low-Pass Genome Sequencing for the Detection of Copy Number Variants to Replace Constitutional Microarray.
J Mol Diagn Volume: 22 Page(s): 823 - 840
06/01/2020 Authors: Chaubey A; Shenoy S; Mathur A; Ma Z; Valencia CA; Reddy Nallamilli BR; Szekeres E; Stansberry L; Liu R; Hegde MR
Design and Reporting Considerations for Genetic Screening Tests.
J Mol Diagn Volume: 22 Page(s): 599 - 609
05/01/2020 Authors: Hagenkord J; Funke B; Qian E; Hegde M; Jacobs KB; Ferber M; Lebo M; Buchanan A; Bick D
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Orphanet J Rare Dis Volume: 15 Page(s): 11
01/13/2020 Authors: Bevilacqua JA; Guecaimburu Ehuletche MDR; Perna A; Dubrovsky A; Franca MC; Vargas S; Hegde M; Claeys KG; Straub V; Daba N
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Front Neurol Volume: 11 Page(s): 559327
01/01/2020 Authors: Chakravorty S; Nallamilli BRR; Khadilkar SV; Singla MB; Bhutada A; Dastur R; Gaitonde PS; Rufibach LE; Gloster L; Hegde M
Analysis of CAP Proficiency Testing Responses and Commonly Used Annotation Software Output Shows Substantial Discrepancy in Variant Nomenclature
Volume: 21 Page(s): 1182 - 1182
11/01/2019 Authors: Schmidt RJ; Funke B; Halley J; Hegde M; Santani A; Voelkerding KV; Roy S
Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.
Hepatology Volume: 70 Page(s): 899 - 910
09/01/2019 Authors: Berauer J-P; Mezina AI; Okou DT; Sabo A; Muzny DM; Gibbs RA; Hegde MR; Chopra P; Cutler DJ; Perlmutter DH
Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion.
Muscle Nerve Volume: 60 Page(s): 98 - 103
07/01/2019 Authors: Chakravorty S; Berger K; Arafat D; Nallamilli BRR; Subramanian HP; Joseph S; Anderson ME; Campbell KP; Glass J; Gibson G
STANDARDIZING METABOLIC DISEASE GENE AND VARIANT CURATION: THE CLINGEN INBORN ERRORS OF METABOLISM WORKING GROUP
Volume: 127 Page(s): 313 - 313
07/01/2019 Authors: Zastrow D; Baudet H; Thomas A; Shen W; Si C; Weaver M; Liu J; Goldstein J; Thaxton C; Ross J
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.
Ann Clin Transl Neurol Volume: 6 Page(s): 642 - 654
04/01/2019 Authors: Dominov JA; Uyan ; McKenna-Yasek D; Nallamilli BRR; Kergourlay V; Bartoli M; Levy N; Hudson J; Evangelista T; Lochmuller H
STANDARDIZING METABOLIC DISEASE GENE AND VARIANT CURATION: THE CLINGEN INBORN ERRORS OF METABOLISM WORKING GROUP
Volume: 126 Page(s): 336 - 340
03/01/2019 Authors: Zastrow D; Baudet H; Thomas A; Shen W; Si C; Weaver M; Liu J; Goldstein J; Thaxton C; Ross J
Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.
J Pediatr Volume: 204 Page(s): 305 - 313.e14
01/01/2019 Authors: Aartsma-Rus A; Hegde M; Ben-Omran T; Buccella F; Ferlini A; Gallano P; Howell RR; Leturcq F; Martin AS; Potulska-Chromik A
Response to Biesecker and Harrison.
Genet Med Volume: 20 Page(s): 1689 - 1690
12/01/2018 Authors: Richards CS; Aziz N; Bale S; Bick D; Das S; Gastier-Foster J; Grody WW; Hegde M; Lyon E; Spector E
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Ann Clin Transl Neurol Volume: 5 Page(s): 1574 - 1587
12/01/2018 Authors: Nallamilli BRR; Chakravorty S; Kesari A; Tanner A; Ankala A; Schneider T; da Silva C; Beadling R; Alexander JJ; Askree SH
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Hum Mutat Volume: 39 Page(s): 1581 - 1592
11/01/2018 Authors: Mester JL; Ghosh R; Pesaran T; Huether R; Karam R; Hruska KS; Costa HA; Lachlan K; Ngeow J; Barnholtz-Sloan J
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Hum Mutat Volume: 39 Page(s): 1614 - 1622
11/01/2018 Authors: Rivera-Muoz EA; Milko LV; Harrison SM; Azzariti DR; Kurtz CL; Lee K; Mester JL; Weaver MA; Currey E; Craigen W
A validation study of copy number variant (CNVs) detection to replace constitutional microarray from low resolution whole genome sequencing data
Volume: 224 Page(s): 56 - 56
08/01/2018 Authors: Chaubey A; Valencia CA; Zeqiang M; Irzyk G; Szekeres E; Markovic Z; Wang Y; Tanner A; Collins C; Hegde M
Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing.
J Genet Genomics
06/06/2018 Authors: Brockhage R; Slone J; Ma Z; Hegde MR; Valencia CA; Huang T
Inferring the effect of genomic variation in the new era of genomics.
Hum Mutat Volume: 39 Page(s): 756 - 773
06/01/2018 Authors: Chakravorty S; Hegde M
Clinical Utility of Transcriptome Sequencing: Toward a Better Diagnosis for Mendelian Disorders.
Clin Chem Volume: 64 Page(s): 882 - 884
06/01/2018 Authors: Chakravorty S; Hegde M
Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms.
PLoS One Volume: 13 Page(s): e0193599
01/01/2018 Authors: Berg AT; Chakravorty S; Koh S; Grinspan ZM; Shellhaas RA; Saneto RP; Wirrell EC; Coryell J; Chu CJ; Mytinger JR
Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.
Genome Med Volume: 9 Page(s): 111
12/18/2017 Authors: Bean LJH; Hegde MR
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.
Pediatr Neurol Volume: 77 Page(s): 61 - 66
12/01/2017 Authors: Butler KM; da Silva C; Alexander JJ; Hegde M; Escayg A
Identification of PKD1L1 Gene Variants in Biliary Atresia Patients with Structural Malformations (BASM)
Volume: 66 Page(s): 1258A - 1259A
12/01/2017 Authors: Berauer J-P; Mezina A; Okou DT; Sabo A; Hegde M; Chopra P; Perlmutter DH; Bull L; Thompson RJ; Spinner NB
Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies.
Annu Rev Genomics Hum Genet Volume: 18 Page(s): 229 - 256
08/31/2017 Authors: Chakravorty S; Hegde M
Genetic Testing for Hereditary Nonpolyposis Colorectal Cancer (HNPCC).
Curr Protoc Hum Genet Volume: 94 Page(s): 10.12.1 - 10.12.23
07/11/2017 Authors: Nallamilli BRR; Hegde M
Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.
Arch Pathol Lab Med Volume: 141 Page(s): 787 - 797
06/01/2017 Authors: Santani A; Murrell J; Funke B; Yu Z; Hegde M; Mao R; Ferreira-Gonzalez A; Voelkerding KV; Weck KE
Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.
Arch Pathol Lab Med Volume: 141 Page(s): 798 - 805
06/01/2017 Authors: Hegde M; Santani A; Mao R; Ferreira-Gonzalez A; Weck KE; Voelkerding KV
Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder.
Eur J Med Genet Volume: 60 Page(s): 312 - 316
06/01/2017 Authors: Dai Z; Whitt Z; Mighion LC; Pontoglio A; Bean LJH; Colombo R; Hegde M
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Genet Med Volume: 19 Page(s): 575 - 582
05/01/2017 Authors: O'Daniel JM; McLaughlin HM; Amendola LM; Bale SJ; Berg JS; Bick D; Bowling KM; Chao EC; Chung WK; Conlin LK
Genetic landscape of Limb-Girdle Muscular Dystrophies from a Large Cohort of Neuromuscular Disease Patients
Volume: 88
04/18/2017 Authors: Chakravorty S; Ramesh BNR; Cheng Y; Wicklund M; Harms M; Mozaffar T; Hegde M
A report on GNE myopathy: Individuals of Rajasthan ancestry share the Roma gene.
J Neurol Sci Volume: 375 Page(s): 239 - 240
04/15/2017 Authors: Khadilkar SV; Nallamilli BRR; Bhutada A; Hegde M; Gandhi K; Faldu HD; Patil SB
WHOLE EXOME SEQUENCING (WES) IDENTIFIES CILIOPATHY AND LATERALITY CANDIDATE GENES FOR BILIARY ATRESIA (BA)
Volume: 152 Page(s): S1064 - S1064
04/01/2017 Authors: Berauer J-P; Mezina A; Sabo A; Hegde M; Perlmutter DH; Karpen SJ
Detecting APC Gene Mutations in Familial Adenomatous Polyposis (FAP).
Curr Protoc Hum Genet Volume: 92 Page(s): 10.8.1 - 10.8.16
01/11/2017 Authors: Nallamilli BRR; Hegde M
The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care.
Acad Pathol Volume: 4 Page(s): 2374289517708309
01/01/2017 Authors: Kaul KL; Sabatini LM; Tsongalis GJ; Caliendo AM; Olsen RJ; Ashwood ER; Bale S; Benirschke R; Carlow D; Funke BH
Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis.
Ann Indian Acad Neurol Volume: 20 Page(s): 302 - 308
01/01/2017 Authors: Dastur RS; Gaitonde PS; Kachwala M; Nallamilli BRR; Ankala A; Khadilkar SV; Atchayaram N; Gayathri N; Meena AK; Rufibach L
Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
Genet Med Volume: 19 Page(s): 77 - 82
01/01/2017 Authors: Narravula A; Garber KB; Askree SH; Hegde M; Hall PL
Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.
Hum Mutat Volume: 38 Page(s): 122
01/01/2017 Authors: Bean LJH; Hegde MR
De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.
Epilepsy Res Volume: 129 Page(s): 17 - 25
01/01/2017 Authors: Butler KM; da Silva C; Shafir Y; Weisfeld-Adams JD; Alexander JJ; Hegde M; Escayg A
Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1.
Genet Med Volume: 18 Page(s): 1290 - 1294
12/01/2016 Authors: Richards CS; Palomaki GE; Hegde M
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.
Genet Med Volume: 18 Page(s): 1282 - 1289
12/01/2016 Authors: Mandelker D; Schmidt RJ; Ankala A; McDonald Gibson K; Bowser M; Sharma H; Duffy E; Hegde M; Santani A; Lebo M
Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.
Am J Hum Genet Volume: 99 Page(s): 1140 - 1149
11/03/2016 Authors: Garber KB; Vincent LM; Alexander JJ; Bean LJH; Bale S; Hegde M
Phenotype Based Targeted Next Generation Sequencing Complemented with Microarray Analysis has high yield in Clinical Genetic Testing of Inherited Eye Disorders
Volume: 57
09/01/2016 Authors: Shankar SP; Yan J; Richards S; Bunke B; Hegde M; Alexander J
Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter.
Sci Signal Volume: 9 Page(s): ra77
08/02/2016 Authors: Kahle KT; Flores B; Bharucha-Goebel D; Zhang J; Donkervoort S; Hegde M; Hussain G; Duran D; Liang B; Sun D
Regulating whole exome sequencing as a diagnostic test.
Hum Genet Volume: 135 Page(s): 655 - 673
06/01/2016 Authors: Lapin V; Mighion LC; da Silva CP; Cuperus Y; Bean LJH; Hegde MR
Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.
Hum Mutat Volume: 37 Page(s): 559 - 563
06/01/2016 Authors: Bean LJH; Hegde MR
Genomic Sequencing Procedure Microcosting Analysis and Health Economic Cost-Impact Analysis: A Report of the Association for Molecular Pathology.
J Mol Diagn Volume: 18 Page(s): 319 - 328
05/01/2016 Authors: Sabatini LM; Mathews C; Ptak D; Doshi S; Tynan K; Hegde MR; Burke TL; Bossler AD
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
Am J Hum Genet Volume: 98 Page(s): 782 - 788
04/07/2016 Authors: Bhoj EJ; Li D; Harr M; Edvardson S; Elpeleg O; Chisholm E; Juusola J; Douglas G; Guillen Sacoto MJ; Siquier-Pernet K
A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.
Clin Chem Volume: 62 Page(s): 208 - 217
01/01/2016 Authors: Zhang W; James PM; Ng BG; Li X; Xia B; Rong J; Asif G; Raymond K; Jones MA; Hegde M
Response to Saul.
Genet Med Volume: 17 Page(s): 761
09/01/2015 Authors: Xue Y; Ankala A; Wilcox WR; Hegde MR
Good laboratory practice for clinical next-generation sequencing informatics pipelines.
Nat Biotechnol Volume: 33 Page(s): 689 - 693
07/01/2015 Authors: Gargis AS; Kalman L; Bick DP; da Silva C; Dimmock DP; Funke BH; Gowrisankar S; Hegde MR; Kulkarni S; Mason CE
Reply to comment on: A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides.
Ann Clin Transl Neurol Volume: 2 Page(s): 785
07/01/2015 Authors: Dominov JA; Uyan ; Sapp PC; McKenna-Yasek D; Nallamilli BRR; Hegde M; Brown RH
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 Volume: 17 Page(s): 444 - 451
06/01/2015 Authors: Xue Y; Ankala A; Wilcox WR; Hegde MR
MULTISPECIFIC T CELLS FOR THE TREATMENT OF HIGH GRADE GLIOMAS
PEDIATRIC BLOOD & CANCER Volume: 62 Page(s): 25 - 25
06/01/2015 Authors: Bielamowicz K; Fousek K; Byrd T; Brawely V; Krebs S; Chow K; Yi Z; Dotti G; Gottschalk S; Hegde M
Gamut of genetic testing for neonatal care.
Clin Perinatol Volume: 42 Page(s): 217 - vii
06/01/2015 Authors: Ankala A; Hegde MR
MULTISPECIFIC CAR T CELLS FOR THE TREATMENT OF HIGH GRADE GLIOMA
Volume: 17 Page(s): 16 - 16
06/01/2015 Authors: Bielamowicz K; Fousek K; Byrd T; Chow K; Yi Z; Krebs S; Dotti G; Gottschalk S; Hegde M; Ahmed N
Human Epidermal Growth Factor Receptor 2 (HER2) -Specific Chimeric Antigen Receptor-Modified T Cells for the Immunotherapy of HER2-Positive Sarcoma.
J Clin Oncol Volume: 33 Page(s): 1688 - 1696
05/20/2015 Authors: Ahmed N; Brawley VS; Hegde M; Robertson C; Ghazi A; Gerken C; Liu E; Dakhova O; Ashoori A; Corder A
Triple-Negative Breast Cancer Cells and Tumor Endothelium Are Killed by Targeting Tumor Endothelial Marker 8 (TEM8)
Volume: 23 Page(s): S287 - S288
05/01/2015 Authors: Byrd T; Fousek K; Pignata A; Szot C; Bielamowicz K; Wakefield A; Seaman S; Fletcher B; Hegde M; St Croix B
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.
Genet Med Volume: 17 Page(s): 405 - 424
05/01/2015 Authors: Richards S; Aziz N; Bale S; Bick D; Das S; Gastier-Foster J; Grody WW; Hegde M; Lyon E; Spector E
College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.
Arch Pathol Lab Med Volume: 139 Page(s): 481 - 493
04/01/2015 Authors: Aziz N; Zhao Q; Bry L; Driscoll DK; Funke B; Gibson JS; Grody WW; Hegde MR; Hoeltge GA; Leonard DGB
Limb girdle weakness responding to salbutamol: an Indian family with DOK7 mutation.
Indian Pediatr Volume: 52 Page(s): 243 - 244
03/08/2015 Authors: Khadilkar S; Bhutada A; Nallamilli B; Hegde M
Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular Pathology.
J Mol Diagn Volume: 17 Page(s): 107 - 117
03/01/2015 Authors: Hegde M; Bale S; Bayrak-Toydemir P; Gibson J; Jeng LJB; Joseph L; Laser J; Lubin IM; Miller CE; Ross LF
Reporting Incidental Findings in Genomic Scale Clinical Sequencing-A Clinical Laboratory Perspective: A Report of the Association for Molecular Pathology.
J Mol Diagn
02/11/2015 Authors: Hegde M; Bale S; Bayrak-Toydemir P; Gibson J; Bone Jeng LJ; Joseph L; Laser J; Lubin IM; Miller CE; Ross LF
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.
Ann Neurol Volume: 77 Page(s): 206 - 214
02/01/2015 Authors: Ankala A; da Silva C; Gualandi F; Ferlini A; Bean LJH; Collins C; Tanner AK; Hegde MR
Clinical applications and implications of common and founder mutations in Indian subpopulations.
Hum Mutat Volume: 36 Page(s): 1 - 10
01/01/2015 Authors: Ankala A; Tamhankar PM; Valencia CA; Rayam KK; Kumar MM; Hegde MR
Genetic variation in dihydropyrimidine dehydrogenase (DPYD) gene in a healthy adult Indian population.
Ann Hum Biol Volume: 42 Page(s): 97 - 100
01/01/2015 Authors: Iyer SN; Singhal RS; Hegde MR; Ankala A
Establishing a Catalog of Medically Relevant Genes with High Sequence Homology to Facilitate Accurate Exome and Genome Sequencing
Volume: 16 Page(s): 700 - 700
11/01/2014 Authors: Mandelker D; Ankala A; Gibson K; Sharma H; Shakhbatyan R; Santani A; Lebo M; Hegde M; Funke B
Molecular diagnosis of Duchenne muscular dystrophy.
Curr Protoc Hum Genet Volume: 83 Page(s): 9.25.1 - 9.2529
10/01/2014 Authors: Nallamilli BRR; Ankala A; Hegde M
The current state of resident training in genomic pathology: a comprehensive analysis using the resident in-service examination.
Am J Clin Pathol Volume: 142 Page(s): 445 - 451
10/01/2014 Authors: Haspel RL; Rinder HM; Frank KM; Wagner J; Ali AM; Fisher PB; Parks ER; Training Residents in Genomics (TRIG) Working Group
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
Genet Med Volume: 16 Page(s): 751 - 758
10/01/2014 Authors: Enns GM; Shashi V; Bainbridge M; Gambello MJ; Zahir FR; Bast T; Crimian R; Schoch K; Platt J; Cox R
Author reply: To PMID 24491643.
Ophthalmology Volume: 121 Page(s): e59 - e60
10/01/2014 Authors: Coster DJ; Keane MC; Williams KA
A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides.
Ann Clin Transl Neurol Volume: 1 Page(s): 703 - 720
09/01/2014 Authors: Dominov JA; Uyan O; Sapp PC; McKenna-Yasek D; Nallamilli BRR; Hegde M; Brown RH
Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies.
Muscle Nerve Volume: 50 Page(s): 333 - 339
09/01/2014 Authors: Ankala A; Nallamilli BR; Rufibach LE; Hwang E; Hegde MR
Organization for rare diseases India (ORDI) - addressing the challenges and opportunities for the Indian rare diseases' community.
Genet Res (Camb) Volume: 96 Page(s): e009
08/13/2014 Authors: Rajasimha HK; Shirol PB; Ramamoorthy P; Hegde M; Barde S; Chandru V; Ravinandan ME; Ramchandran R; Haldar K; Lin JC
T cells redirected to interleukin-13R2 with interleukin-13 mutein--chimeric antigen receptors have anti-glioma activity but also recognize interleukin-13R1.
Cytotherapy Volume: 16 Page(s): 1121 - 1131
08/01/2014 Authors: Krebs S; Chow KKH; Yi Z; Rodriguez-Cruz T; Hegde M; Gerken C; Ahmed N; Gottschalk S
Genetic and epigenetic determinants of low dysferlin expression in monocytes.
Hum Mutat Volume: 35 Page(s): 990 - 997
08/01/2014 Authors: Gallardo E; Ankala A; Nez-lvarez Y; Hegde M; Diaz-Manera J; Luna ND; Pastoret A; Suelves M; Illa I
A Novel MTM1 Mutation in a Case of X-linked Myotubular/Centronuclear Myopathy
Volume: 73 Page(s): 615 - 615
06/01/2014 Authors: Agarwal N; Pedro H; Valdez-Gonzalez K; Hegde M; Baisre A
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
Mol Genet Metab Volume: 112 Page(s): 160 - 170
06/01/2014 Authors: Morrone A; Tylee KL; Al-Sayed M; Brusius-Facchin AC; Caciotti A; Church HJ; Coll MJ; Davidson K; Fietz MJ; Gort L
Whole Exome Sequencing Identifies ABCB4 Gene Variants As Modifiers of Biliary Atresia Outcomes
Volume: 146 Page(s): S928 - S928
05/01/2014 Authors: Mezina A; Gandhi K; Sabo A; Muzny D; Gibbs R; Hegde M; Karpen SJ
Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status.
J Mol Diagn Volume: 16 Page(s): 350 - 360
05/01/2014 Authors: Tanner AK; Valencia CA; Rhodenizer D; Espirages M; Da Silva C; Borsuk L; Caldwell S; Gregg E; Grimes E; Lichanska AM
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Brain Volume: 137 Page(s): 1282 - 1303
05/01/2014 Authors: Fu R; Ceballos-Picot I; Torres RJ; Larovere LE; Yamada Y; Nguyen KV; Hegde M; Visser JE; Schretlen DJ; Nyhan WL
Glycosylation, hypogammaglobulinemia, and resistance to viral infections.
N Engl J Med Volume: 370 Page(s): 1615 - 1625
04/24/2014 Authors: Sadat MA; Moir S; Chun T-W; Lusso P; Kaplan G; Wolfe L; Memoli MJ; He M; Vega H; Kim LJY
Next-generation Sequencing Panel for Molecular Diagnosis in the Eye Clinic -Identification of Novel Mutations and the Saga of Variants of Unknown Significance
Volume: 55
04/01/2014 Authors: Shankar SP; Yan J; Lambert SR; Hutchinson AK; Lenhart P; Ciavatta VT; Hegde M
FKRP MUTATIONS RESULT IN DEFECTIVE GLYCOSYLATION AND A MUSCULAR DYSTROPHY PHENOTYPE
Volume: 111 Page(s): 259 - 259
03/01/2014 Authors: Sparks SE; Duong T; Kesari A; Keramaris E; Ankala A; Cnaan A; Gordish-Dressman H; Arrieta A; Hache L; Hu F
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
Genet Med Volume: 16 Page(s): 101 - 116
01/01/2014 Authors: Hegde M; Ferber M; Mao R; Samowitz W; Ganguly A; Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee
Genomic technologies and the new era of genomic medicine.
J Mol Diagn Volume: 16 Page(s): 7 - 10
01/01/2014 Authors: Ankala A; Hegde M
Detection limit of intragenic deletions with targeted array comparative genomic hybridization.
BMC Genet Volume: 14 Page(s): 116
12/05/2013 Authors: Askree SH; Chin ELH; Bean LH; Coffee B; Tanner A; Hegde M
Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.
Mol Genet Metab Volume: 110 Page(s): 484 - 489
12/01/2013 Authors: Lieu MT; Ng BG; Rush JS; Wood T; Basehore MJ; Hegde M; Chang RC; Abdenur JE; Freeze HH; Wang RY
Ancestral founder mutations in calpain-3 in the Indian Agarwal community: Historical, clinical, and molecular perspective (vol 47, pg 931, 2013)
MUSCLE & NERVE Volume: 48 Page(s): 999 - 999
12/01/2013 Authors: Ankala A; Kohn JN; Dastur R; Gaitonde P; Khadilkar SV; Hegde MR
Combinational Targeting Offsets Antigen Escape and Enhances Effector Functions of Adoptively Transferred T Cells in Glioblastoma.
Mol Ther Volume: 21 Page(s): 2087 - 2101
11/01/2013 Authors: Hegde M; Corder A; Chow KK; Mukherjee M; Ashoori A; Kew Y; Zhang YJ; Baskin DS; Merchant FA; Brawley VS
Mouse model implicates GNB3 duplication in a childhood obesity syndrome.
Proc Natl Acad Sci U S A Volume: 110 Page(s): 14990 - 14994
09/10/2013 Authors: Goldlust IS; Hermetz KE; Catalano LM; Barfield RT; Cozad R; Wynn G; Ozdemir AC; Conneely KN; Mulle JG; Dharamrup S
ACMG clinical laboratory standards for next-generation sequencing.
Genet Med Volume: 15 Page(s): 733 - 747
09/01/2013 Authors: Rehm HL; Bale SJ; Bayrak-Toydemir P; Berg JS; Brown KK; Deignan JL; Friez MJ; Funke BH; Hegde MR; Lyon E
Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.
Hum Mutat Volume: 34 Page(s): 1183 - 1188
09/01/2013 Authors: Bean LJH; Tinker SW; da Silva C; Hegde MR
Determination of common genetic variants in cytidine deaminase (CDA) gene in Indian ethnic population.
Gene Volume: 524 Page(s): 35 - 39
07/15/2013 Authors: Iyer SN; Ankala A; Singhal RS; Hegde MR
Implementing genomic medicine in pathology.
Adv Anat Pathol Volume: 20 Page(s): 238 - 244
07/01/2013 Authors: Williams ES; Hegde M
Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.
J Mol Diagn Volume: 15 Page(s): 518 - 525
07/01/2013 Authors: Kalman L; Tarleton J; Hitch M; Hegde M; Hjelm N; Berry-Kravis E; Zhou L; Hilbert JE; Luebbe EA; Moxley RT
Ancestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective.
Muscle Nerve Volume: 47 Page(s): 931 - 937
06/01/2013 Authors: Ankala A; Kohn JN; Dastur R; Gaitonde P; Khadilkar SV; Hegde MR
Unusually early presentation of small-bowel adenocarcinoma in a patient with Peutz-Jeghers syndrome.
J Pediatr Hematol Oncol Volume: 35 Page(s): 323 - 328
05/01/2013 Authors: Wangler MF; Chavan R; Hicks MJ; Nuchtern JG; Hegde M; Plon SE; Thompson PA
Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations.
BMC Genet Volume: 14 Page(s): 6
02/19/2013 Authors: Chin ELH; da Silva C; Hegde M
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.
Mol Genet Metab Volume: 110 Page(s): 78 - 85
01/01/2013 Authors: Jones MA; Rhodenizer D; da Silva C; Huff IJ; Keong L; Bean LJH; Coffee B; Collins C; Tanner AK; He M
Marching towards personalized genomic medicine.
J Pediatr Volume: 162 Page(s): 10 - 11
01/01/2013 Authors: Hegde MR
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Hum Mol Genet Volume: 22 Page(s): 1 - 17
01/01/2013 Authors: Schwarze U; Cundy T; Pyott SM; Christiansen HE; Hegde MR; Bank RA; Pals G; Ankala A; Conneely K; Seaver L
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
PLoS One Volume: 8 Page(s): e53083
01/01/2013 Authors: Valencia CA; Ankala A; Rhodenizer D; Bhide S; Littlejohn MR; Keong LM; Rutkowski A; Sparks S; Bonnemann C; Hegde M
College of American Pathologists' Laboratory Standards for Next Generation Sequence Clinical Testing
Volume: 14 Page(s): 742 - 742
11/01/2012 Authors: Aziz N; Lynn B; Driscoll D; Gibson J; Grody W; Hegde M; Hoeltge G; Kant JA; Leonard D; Merker JD
Assuring the quality of next-generation sequencing in clinical laboratory practice.
Nat Biotechnol Volume: 30 Page(s): 1033 - 1036
11/01/2012 Authors: Gargis AS; Kalman L; Berry MW; Bick DP; Dimmock DP; Hambuch T; Lu F; Lyon E; Voelkerding KV; Zehnbauer BA
Gene by gene sequencing to whole genome analysis: A perspective on neuromuscular disorders
Volume: 22 Page(s): 804 - 804
10/01/2012 Authors: Hegde M
Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease.
Orphanet J Rare Dis Volume: 7 Page(s): 38
06/15/2012 Authors: Tanner AK; Chin ELH; Duffner PK; Hegde M
SETX gene novel mutations in a non-French Canadian with ataxia-oculomotor apraxia type 2.
Parkinsonism Relat Disord Volume: 18 Page(s): 700 - 701
06/01/2012 Authors: Ghrooda S; Borys A; Spriggs E; Hegde M; Mhanni A
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.
Am J Hum Genet Volume: 90 Page(s): 685 - 688
04/06/2012 Authors: Ng BG; Hackmann K; Jones MA; Eroshkin AM; He P; Wiliams R; Bhide S; Cantagrel V; Gleeson JG; Paller AS
Exploring concordance and discordance for return of incidental findings from clinical sequencing.
Genet Med Volume: 14 Page(s): 405 - 410
04/01/2012 Authors: Green RC; Berg JS; Berry GT; Biesecker LG; Dimmock DP; Evans JP; Grody WW; Hegde MR; Kalia S; Korf BR
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.
Am J Hum Genet Volume: 90 Page(s): 363 - 368
02/10/2012 Authors: Jones MA; Ng BG; Bhide S; Chin E; Rhodenizer D; He P; Losfeld M-E; He M; Raymond K; Berry G
Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene.
Genome Res Volume: 22 Page(s): 25 - 34
01/01/2012 Authors: Ankala A; Kohn JN; Hegde A; Meka A; Ephrem CLH; Askree SH; Bhide S; Hegde MR
Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.
J Mol Diagn Volume: 14 Page(s): 233 - 246
01/01/2012 Authors: Valencia CA; Rhodenizer D; Bhide S; Chin E; Littlejohn MR; Keong LM; Rutkowski A; Bonnemann C; Hegde M
Detection of VWF Copy Number Variations by Microarray Analysis in Von Willebrand Disease Type 3 Index Cases
Volume: 118 Page(s): 175 - 176
11/18/2011 Authors: Bellissimo DB; Chin E; Hegde M; Christopherson PA; Haberichter SL; Montgomery RR
Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.
Genet Med Volume: 13 Page(s): 921 - 932
11/01/2011 Authors: Jones MA; Bhide S; Chin E; Ng BG; Rhodenizer D; Zhang VW; Sun JJ; Tanner A; Freeze HH; Hegde MR
The virtual diagnostic laboratory: a new way of teaching undergraduate medical students about genetic testing.
Genet Med Volume: 13 Page(s): 973 - 977
11/01/2011 Authors: Bean LJ; Fridovich-Keil J; Hegde M; Rudd MK; Garber KB
Clarity and claims in variation/mutation databasing reply
NATURE BIOTECHNOLOGY Volume: 29 Page(s): 792 - 794
09/01/2011 Authors: Bale S; Rehm HL; Nussbaum R; Hegde M; den Dunnen JT; Willems P
VARIABLE OSTEOGENESIS IMPERFECTA PHENOTYPE RESULTING FROM A FOUNDER FKBP10 MUTATION IN SAMOA
Volume: 22 Page(s): S545 - S545
09/01/2011 Authors: Cundy T; Schwarze U; Pyott S; Davis EC; Hegde M; Byers P
Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.
Ophthalmology Volume: 118 Page(s): 558 - 563
03/01/2011 Authors: Yu-Wai-Man P; Shankar SP; Biousse V; Miller NR; Bean LJH; Coffee B; Hegde M; Newman NJ
Phenylbutyrate therapy for maple syrup urine disease.
Hum Mol Genet Volume: 20 Page(s): 631 - 640
02/15/2011 Authors: Brunetti-Pierri N; Lanpher B; Erez A; Ananieva EA; Islam M; Marini JC; Sun Q; Yu C; Hegde M; Li J
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 Volume: 59 Page(s): 803 - 809
01/01/2011 Authors: Dastur RS; Kachwala MY; Khadilkar SV; Hegde MR; Gaitonde PS
MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.
Indian J Hum Genet Volume: 17 Page(s): 29 - 32
01/01/2011 Authors: Pervaiz MA; Kendal F; Hegde M; Singh RH
Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testing.
J Mol Diagn Volume: 13 Page(s): 108 - 112
01/01/2011 Authors: Hussain Askree S; Hjelm LN; Ali Pervaiz M; Adam M; Bean LJH; Hedge M; Coffee B
Aberrant DNA Methylation as a Marker for Human Disease in Newborns
Volume: 12 Page(s): 865 - 865
11/01/2010 Authors: Coffee B; Askree S; Dharamrup S; Bean L; Hegde M
Use of a Solid Next Generation Sequencer to Detect Simple and Complex Mutations
Volume: 12 Page(s): 857 - 857
11/01/2010 Authors: Chin E; Alexander C; Sun J; Bean L; Coffee B; Hegde M
A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.
J Mol Diagn Volume: 12 Page(s): 607 - 610
09/01/2010 Authors: Hjelm LN; Chin ELH; Hegde MR; Coffee BW; Bean LJH
Empirical evaluation of oligonucleotide probe selection for DNA microarrays.
PLoS One Volume: 5 Page(s): e9921
03/29/2010 Authors: Mulle JG; Patel VC; Warren ST; Hegde MR; Cutler DJ; Zwick ME
A FORMIMINOGLUTAMIC ACIDURIA PATIENT FOUND BY NEWBORN SCREENING AND THE ASSOCIATION OF FTCD GENOTYPE WITH CLINICAL PHENOTYPE
Volume: 99 Page(s): 204 - 204
03/01/2010 Authors: Zhang VW; Harper T; Lin N; Alexander CR; Singh RH; Hegde MR; He M
Poly(ADP-ribose) polymerase inhibitor ABT-888 potentiates the cytotoxic activity of temozolomide in leukemia cells: influence of mismatch repair status and O6-methylguanine-DNA methyltransferase activity.
Mol Cancer Ther Volume: 8 Page(s): 2232 - 2242
08/01/2009 Authors: Horton TM; Jenkins G; Pati D; Zhang L; Dolan ME; Ribes-Zamora A; Bertuch AA; Blaney SM; Delaney SL; Hegde M
Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease.
Hum Genet Volume: 126 Page(s): 329
08/01/2009 Authors: Chin E; Bean L; Coffee B; Hegde MR
Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications.
Genet Med Volume: 11 Page(s): 232 - 240
04/01/2009 Authors: Tayeh MK; Chin ELH; Miller VR; Bean LJH; Coffee B; Hegde M
Genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC).
Curr Protoc Hum Genet Volume: Chapter 10 Page(s): Unit - 10.12
04/01/2009 Authors: Hegde MR; Roa BB
Uptake and Outcome of Genetic Testing among Participants of the DuchenneConnect Registry
Volume: 72 Page(s): A490 - A490
03/17/2009 Authors: Miller VR; Spinella G; Loud K; Faucett WA; Hegde M; Furlong P
Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.
Neurol India Volume: 57 Page(s): 406 - 410
01/01/2009 Authors: Khadilkar SV; Singh RK; Hegde M; Urtizberea A; Love DR; Chong B
Microarray-based mutation detection in the dystrophin gene.
Hum Mutat Volume: 29 Page(s): 1091 - 1099
09/01/2008 Authors: Hegde MR; Chin ELH; Mulle JG; Okou DT; Warren ST; Zwick ME
Multiple tumors in a child with germ-line mutations in TP53 and PTEN.
N Engl J Med Volume: 359 Page(s): 537 - 539
07/31/2008 Authors: Plon SE; Pirics ML; Nuchtern J; Hicks J; Russell H; Agrawal S; Zbuk K; Eng C; Hegde M; Chin EL-H
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.
Genet Med Volume: 10 Page(s): 294 - 300
04/01/2008 Authors: Richards CS; Bale S; Bellissimo DB; Das S; Grody WW; Hegde MR; Lyon E; Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee
A familial syndrome of scoliosis, macrocephaly and acetabular protrusion
Volume: 40 Page(s): S37 - S37
06/01/2007 Authors: Cundy T; Street R; King A; Hegde M; Stockton D
Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea - Reply
NEUROLOGY INDIA Volume: 54 Page(s): 445 - 446
12/01/2006 Authors: Khadilkar SV; Menezes KM; Singh RK; Hegde MR
Low levels of genetic divergence across geographically and linguistically diverse populations from India.
PLoS Genet Volume: 2 Page(s): e215
12/01/2006 Authors: Rosenberg NA; Mahajan S; Gonzalez-Quevedo C; Blum MGB; Nino-Rosales L; Ninis V; Das P; Hegde M; Molinari L; Zapata G
Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea.
Neurol India Volume: 54 Page(s): 293 - 295
09/01/2006 Authors: Khadilkar SV; Menezes KM; Singh RK; Hegde MR
Detecting mutations in the APC gene in familial adenomatous polyposis (FAP).
Curr Protoc Hum Genet Volume: Chapter 10 Page(s): Unit - 10.8
08/01/2006 Authors: Hegde MR; Roa BB
A phase I study of temozolomide (Temodar (R)) in pediatric patients with relapsed or refractory leukemia - A children's oncology group study.
Volume: 106 Page(s): 192B - 192B
11/16/2005 Authors: Horton TM; Dolan E; Hegde M; Berg SL; Adamson P; Blaney SM
Diagnostic sequencing analysis for germine mutations in the MSH6 gene in hereditary non-polyposis colon cancer.
Volume: 7 Page(s): 653 - 653
11/01/2005 Authors: Roa BB; Chong B; Chin LH; Ward P; Richards CS; Hegde M
Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6.
J Mol Diagn Volume: 7 Page(s): 525 - 534
10/01/2005 Authors: Hegde M; Blazo M; Chong B; Prior T; Richards C
A homozygous mutation in MSH6 causes Turcot syndrome.
Clin Cancer Res Volume: 11 Page(s): 4689 - 4693
07/01/2005 Authors: Hegde MR; Chong B; Blazo ME; Chin LHE; Ward PA; Chintagumpala MM; Kim JY; Plon SE; Richards CS
Use of the newborn screening card to define cause of death in a 12-year-old diagnosed with epilepsy.
J Paediatr Child Health Volume: 40 Page(s): 651 - 653
11/01/2004 Authors: Skinner JR; Chong B; Fawkner M; Webster DR; Hegde M
Validation of p53 mutational analysis using dHPLC and sequencing.
Volume: 6 Page(s): 352 - 352
07/01/2004 Authors: Hegde M; Chong M; Lozano G; Strong L; Richards C
Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.
J Bone Miner Res Volume: 18 Page(s): 2095 - 2104
12/01/2003 Authors: Chong B; Hegde M; Fawkner M; Simonet S; Cassinelli H; Coker M; Kanis J; Seidel J; Tau C; Tysz B
Idiopathic Hyperphosphatasia and TNFRSF11B Mutations: Relationships Between Phenotype and Genotype.
J Bone Miner Res Volume: 18 Page(s): 2095 - 2104
12/01/2003 Authors: Chong B; Hegde M; Fawkner M; Simonet S; Cassinelli H; Coker M; Kanis J; Seidel J; Tau C; Tysz B
Mutational analysis of the MYH gene in familial adenomatous polyposis (FAP) patients negative for APC gene mutations.
Volume: 73 Page(s): 247 - 247
11/01/2003 Authors: Blazo MA; Hegde MR; Odenbaugh DM; Ward PA; Richards CS
Diagnostic mutational analysis of the entire genomic sequence of the RECQL4 gene in Rothmund-Thomson Syndrome (RTS) patients.
Volume: 73 Page(s): 233 - 233
11/01/2003 Authors: Chong B; Hegde MR; Odenbaugh DM; Gannavarapu A; Wang LL; Plon SE; Richards CS
A novel homozygous mutation in the MSH6 gene in a Turcot Syndrome family characterized by pediatric glioblastoma multiforme, lymphoma, colorectal cancer and neurofibromatosis.
Volume: 73 Page(s): 237 - 237
11/01/2003 Authors: Hegde MR; Blazo MA; Chin LH; Ward PA; Chintagumpala MM; Kim JY; Plon SE; Richards CS
Functional analysis of dystrophin sequence variants: biological/clinical relevance
Volume: 73 Page(s): 566 - 566
11/01/2003 Authors: Richards CS; Chin LH; Lichtharge O; Schwede T; Kopp J; Ward PA; Miller G; Love DR; Hegde MR
Comprehensive assay development for Hereditary Non-polyposis colon cancer.
Volume: 71 Page(s): 249 - 249
10/01/2002 Authors: Hegde MR; Odenbaugh D; Weng YP; Richards CS
Sequence variations in the dystrophin gene, biological consequences, and clinical correlations.
Volume: 71 Page(s): 319 - 319
10/01/2002 Authors: Richards CS; Weng YP; Odenbaugh D; Miller G; Love DR; Hegde MR
A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype.
Hum Mol Genet Volume: 11 Page(s): 2119 - 2127
09/01/2002 Authors: Cundy T; Hegde M; Naot D; Chong B; King A; Wallace R; Mulley J; Love DR; Seidel J; Fawkner M
Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol.
Genet Test Volume: 6 Page(s): 7 - 14
01/01/2002 Authors: Hegde M; Lewis RA; Richards CS
Clinical & genetic analysis of four patients with distal upper limb spinal muscular atrophy.
Indian J Med Res Volume: 114 Page(s): 141 - 147
10/01/2001 Authors: Hegde MR; Chong B; Stevenson C; Laing NG; Khadilkar S; Love DR
Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification.
J Med Genet Volume: 38 Page(s): 624 - 629
09/01/2001 Authors: Hegde MR; Chong B; Fawkner M; Lambiris N; Peters H; Kenneson A; Warren ST; Love DR; McGaughran J
Compound heterozygosity at the FMR1 gene.
Genet Test Volume: 5 Page(s): 135 - 138
01/01/2001 Authors: Hegde MR; Fawkner M; Chong B; McGaughran J; Gilbert D; Love DR
Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography.
Genet Test Volume: 5 Page(s): 281 - 290
01/01/2001 Authors: Wu G; Wu W; Hegde M; Fawkner M; Chong B; Love D; Su LK; Lynch P; Snow K; Richards CS
Hierarchical mutation screening protocol for the BRCA1 gene.
Hum Mutat Volume: 16 Page(s): 422 - 430
11/01/2000 Authors: Hegde MR; Chong B; Fawkner MJ; Leary J; Shelling AN; Culling B; Winship I; Love DR
Evidence for a major gene for bone mineral density in idiopathic osteoporotic families.
J Bone Miner Res Volume: 15 Page(s): 1132 - 1137
06/01/2000 Authors: Cardon LR; Garner C; Bennett ST; Mackay IJ; Edwards RM; Cornish J; Hegde M; Murray MA; Reid IR; Cundy T
Null alleles at the Huntington disease locus: implications for diagnostics and CAG repeat instability.
Genet Test Volume: 4 Page(s): 55 - 60
01/01/2000 Authors: Williams LC; Hegde MR; Nagappan R; Faull RL; Giles J; Winship I; Snow K; Love DR
Comparative semi-automated analysis of (CAG) repeats in the Huntington disease gene: use of internal standards.
Mol Cell Probes Volume: 13 Page(s): 283 - 289
08/01/1999 Authors: Williams LC; Hegde MR; Herrera G; Stapleton PM; Love DR

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Madhuri Hegde PhD

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