Madhuri Hegde
6PUBLICATIONS
44CO-AUTHORS

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Publications (6)
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|Apr 14, 2025
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.Fen Guo, Ruby Liu, Yinghong Pan
|Feb 09, 2023
Diagnostic yield from prenatal exome sequencing for non-immune hydrops fetalis: A systematic review and meta-analysis.Huda B Al-Kouatly, Kavya Shivashankar, Matthew H Mossayebi
|Mar 01, 2021
A single NGS-based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.Babi R R Nallamilli, Alka Chaubey, C A Valencia
|Oct 15, 2020
Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy.Babi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari
|Oct 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.Edgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison
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Frequent Collaborators
2 joint publications
Babi Ramesh Reddy Nallamilli
1 joint publications
Edgar A Rivera-Muñoz
1 joint publications
Laura V Milko
1 joint publications
Steven M Harrison
1 joint publications
Jessica L Mester
1 joint publications
Charis Eng
1 joint publications
Lisa M Vincent
1 joint publications
Heidi L Rehm
1 joint publications
Jonathan S Berg
1 joint publications
Samya Chakravorty