Madhuri Hegde

40.6k citations

138 papers · 23.8k indexed · 3 hit papers · h-index 35

Genetics top 0.02%
- Genomics and Rare Diseases 42
- Genomic variations and chromosomal abnormalities 30
Cancer Research top 0.5%
- Cancer Genomics and Diagnostics 18
Clinical Biochemistry top 0.2%
Molecular Biology top 0.2%
- Muscle Physiology and Disorders 23
- CRISPR and Genetic Engineering 8
- DNA Repair Mechanisms 7
Genetics top 0.5%
- Genomics and Rare Diseases 42
- Genomic variations and chromosomal abnormalities 30
Pathology and Forensic Medicine
- Genetic factors in colorectal cancer 20
Cellular and Molecular Neuroscience
- Genetic Neurodegenerative Diseases 7

Co-authors: Sherri J. Bale Elaine Lyon Wayne W. Grody Soma Das Heidi L. Rehm Karl V. Voelkerding Nazneen Aziz David Bick
Cited by: Genetics Cancer Research Clinical Biochemistry
Journals: SHILAP Revista de lepidopterología (3 papers)Blood (1 paper)Gastroenterology (1 paper)
Partner nations: United States India New Zealand

In The Last Decade

Madhuri Hegde

134 papers receiving 23.5k citations

Hit Papers

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Peers

Countries citing papers authored by Madhuri Hegde

Since Specialization

Citations

This map shows the geographic impact of Madhuri Hegde's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Madhuri Hegde with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Madhuri Hegde more than expected).

Fields of papers citing papers by Madhuri Hegde

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Madhuri Hegde. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Madhuri Hegde. The network helps show where Madhuri Hegde may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Madhuri Hegde, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Madhuri Hegde Line = papers co-authored together Madhuri Hegde links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Enhancing Fabry disease screening and diagnostic efficiency: Integration of enzyme, biomarker, and next-generation sequencing testing Molecular Genetics and Metabolism ·Yinghong Pan,Lisa Sniderman King,Elizabeth Vengoechea,Ruby Liu,Xiangwen Chen‐Deutsch,Sara N. Smith,Yuanyuan Wang,Cristina da Silva,Pulak K. Chakraborty,Eshawnvie Kallu,Babi Ramesh Reddy Nallamilli,Taraka Donti,Angela Wangari Walter,Sean Kazemi,Madhuri Hegde	2025	2
2	Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing Human Mutation ·Fen Guo,Ruby Liu,Yinghong Pan,Mary Colasanto,Christin Collins,Madhuri Hegde	2024	1
3	P729: Identification of multiple diagnoses in pediatric patients through genome sequencing SHILAP Revista de lepidopterología ·Christin Collins,Fen Guo,Ruby Liu,Yinghong Pan,Mary Colasanto,Madhuri Hegde	2024	1
4	Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test Genetics in Medicine ·Fen Guo,Ruby Liu,Yinghong Pan,Christin Collins,Lora Jh Bean,Zeqiang Ma,Abhinav Mathur,Cristina da Silva,Babi Ramesh Reddy Nallamilli,Naga Guruju,Xiangwen Chen‐Deutsch,Rizwan Yousaf,Ephrem Chin,Jorune Balciuniene,Madhuri Hegde	2023	10
5	P519: Evidence of complex inheritance patterns in limb-girdle and other muscular dystrophies: Synergistic heterozygosity and multigenic inheritance SHILAP Revista de lepidopterología ·Madhuri Hegde,Babi Ramesh Reddy Nallamilli,Yinghong Pan,Jagannathan Lakshmanan,Vinish Ramachander,Ruby Liu	2023	0
6	Diagnostic yield from prenatal exome sequencing for non‐immune hydrops fetalis: A systematic review and meta‐analysis Clinical Genetics ·Huda B. Al‐Kouatly,Kavya Shivashankar,Matthew H. Mossayebi,Mona M. Makhamreh,Elizabeth Critchlow,Zimeng Gao,Luther‐King Fasehun,Fowzan S. Alkuraya,Erin Ryan,Madhuri Hegde,Sascha Wodoslawsky,Joel Hughes,Seth Berger	2023	14
7	Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping Neurology Genetics ·Naga Guruju,Vanessa Jump,Richard J.L.F. Lemmers,Silvère M. van der Maarel,Ruby Liu,Babi Ramesh Reddy Nallamilli,Suresh Shenoy,Alka Chaubey,Pratik Koppikar,Rajiv Rose,Satish V. Khadilkar,Madhuri Hegde	2023	11
8	At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children JAMA Network Open ·Jorune Balciuniene,Ruby Liu,Lora Jh Bean,Fen Guo,Babi Ramesh Reddy Nallamilli,Naga Guruju,Xiangwen Chen‐Deutsch,Rizwan Yousaf,Kristina Fura,Ephrem Chin,Abhinav Mathur,Zeqiang Ma,Jonathan Carmichael,Cristina da Silva,Christin Collins,Madhuri Hegde	2023	8
9	A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing Human Mutation ·Babi Ramesh Reddy Nallamilli,Alka Chaubey,C. Alexander Valencia,Leah Stansberry,Andrea Behlmann,Zeqiang Ma,Abhinav Mathur,Suresh Shenoy,Srividya Ganapathy,Lakshmanan Jagannathan,Vinish Ramachander,Alessandra Ferlini,Lora Jh Bean,Madhuri Hegde	2021	31
10	Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel Human Mutation ·Jessica L. Mester,Rajarshi Ghosh,Tina Pesaran,Robert Huether,Rachid Karam,Kathleen S. Hruska,Helio A. Costa,Katherine Lachlan,Joanne Ngeow,Jill S. Barnholtz‐Sloan,Kaitlin Sesock,Felicia Hernandez,Liying Zhang,Laura V. Milko,Sharon E. Plon,Madhuri Hegde,Charis Eng	2018	89
11	Artificial neural network techniques for predicting severity of Spodoptera litura(Fabricius) on groundnut Journal of Environmental Biology ·S. Vennila,Gurmeet Singh,Girish Kumar Jha,M. Srinivasa Rao,H. PANWAR,Madhuri Hegde	2017	7
12	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 Pathologybreakdown → Genetics in Medicine ·Sue Richards,Nazneen Aziz,Sherri J. Bale,David Bick,Soma Das,Julie M. Gastier‐Foster,Wayne W. Grody,Madhuri Hegde,Elaine Lyon,Elaine Spector,Karl V. Voelkerding,Heidi L. Rehm	2015	18892
13	Reporting Incidental Findings in Genomic Scale Clinical Sequencing—A Clinical Laboratory Perspective Journal of Molecular Diagnostics ·Madhuri Hegde,Sherri J. Bale,Pınar Bayrak‐Toydemir,Jane Whitney Gibson,Linda Jo Bone Jeng,Loren Joseph,Jordan Laser,Ira M. Lubin,Christine E. Miller,Lainie Friedman Ross,Paul G. Rothberg,Alice Tanner,Patrik Vitazka,Rong Mao	2015	44
14	Assessment of Target Enrichment Platforms Using Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy Journal of Molecular Diagnostics ·C. Alexander Valencia,Devin Rhodenizer,Shruti Bhide,Ephrem Chin,Martin Robert Littlejohn,Lisa M. Keong,Anne Rutkowski,Carsten G. Bönnemann,Madhuri Hegde	2012	38
15	Empirical Evaluation of Oligonucleotide Probe Selection for DNA Microarrays PLoS ONE ·Jennifer G. Mullé,Viren Patel,Stephen T. Warren,Madhuri Hegde,David J. Cutler,Michael E. Zwick	2010	15
16	Poly(ADP-ribose) polymerase inhibitor ABT-888 potentiates the cytotoxic activity of temozolomide in leukemia cells: influence of mismatch repair status and O 6-methylguanine-DNA methyltransferase activity Molecular Cancer Therapeutics ·Terzah M. Horton,Gaye Jenkins,Debananda Pati,Linna Zhang,M. Eileen Dolan,Albert Ribes‐Zamora,Alison A. Bertuch,Susan M. Blaney,Shannon L. Delaney,Madhuri Hegde,Stacey L. Berg	2009	67
17	Diagnostic DNA Testing for X-Linked Ocular Albinism ( OA1 ) with a Hierarchical Mutation Screening Protocol Genetic Testing ·Madhuri Hegde,Richard A. Lewis,C. Sue Richards	2002	7
18	Compound Heterozygosity at the FMR1 Gene Genetic Testing ·Madhuri Hegde,Matthew Fawkner,Belinda Chong,Julie McGaughran,Dale Gilbert,Donald R. Love	2001	7
19	Detection of Sequence Variations in the Adenomatous Polyposis Coli ( APC ) Gene Using Denaturing High-Performance Liquid Chromatography Genetic Testing ·Guohao Wu,Wei Wu,Madhuri Hegde,Matthew Fawkner,Belinda Chong,Donald R. Love,Li Su,Patrick M. Lynch,Karen Snow,C. Sue Richards	2001	30
20	Null Alleles at the Huntington Disease Locus: Implications for Diagnostics and CAG Repeat Instability Genetic Testing ·Liam Williams,Madhuri Hegde,Radhika Nagappan,Richard L. M. Faull,Jennie Giles,Ingrid Winship,Karen Snow,Donald R. Love	2000	15

About Madhuri Hegde

Madhuri Hegde is a scholar working on Genetics, Cancer Research and Pathology and Forensic Medicine, having authored 138 papers that have together received 23.8k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (42 papers), Genomic variations and chromosomal abnormalities (30 papers), Muscle Physiology and Disorders (23 papers), Genetic factors in colorectal cancer (20 papers), Cancer Genomics and Diagnostics (18 papers), CRISPR and Genetic Engineering (8 papers), DNA Repair Mechanisms (7 papers) and Genetic Neurodegenerative Diseases (7 papers). The work is most often cited by research in Genetics (10.7k citations), Cancer Research (2.6k citations) and Clinical Biochemistry (1.2k citations). Madhuri Hegde has collaborated with scholars based in United States, India and New Zealand. Frequent co-authors include Sherri J. Bale, Elaine Lyon, Wayne W. Grody, Soma Das, Heidi L. Rehm, Karl V. Voelkerding, Nazneen Aziz, David Bick, Julie M. Gastier‐Foster and Sue Richards. Their work appears in journals such as SHILAP Revista de lepidopterología, Blood and Gastroenterology.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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