Madhuri Hegde

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 4

Top Topics

Systematic Review

Mitochondrial Dna

Duchenne Muscular Dystrophy

Top Venues

Clinical genetics

Annals of clinical and translational neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Huda B Al-Kouatly, Kavya Shivashankar, Matthew H Mossayebi, Mona M Makhamreh, Elizabeth Critchlow, Zimeng Gao, Luther-King Fasehun, Fowzan Sami Alkuraya, Erin E Ryan, Madhuri Hegde, Sascha Wodoslawsky, Joel Hughes, Seth I Berger
Diagnostic yield from prenatal exome sequencing for non-immune hydrops fetalis: A systematic review and meta-analysis. Clinical genetics (2023)
Babi Ramesh Reddy Nallamilli, Alka Chaubey, C A Valencia, Leah Stansberry, Andrea M Behlmann, Zeqiang Ma, Abhinav Mathur, Suresh Shenoy, Vidya Ganapathy, Lakshmanan Jagannathan, Vinish Ramachander, Alessandra Ferlini, Lora Bean, Madhuri Hegde
A single NGS-based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing. Human mutation 42 (5) (2021)
Babi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari, Lora J H Bean, Madhuri Hegde
Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy. Annals of clinical and translational neurology 7 (12) (2020)
E Andres Rivera-Munoz, Laura V Milko, Steven M Harrison, Danielle R Azzariti, C Lisa Kurtz, Kristy Lee, Jessica L Mester, Meredith A Weaver, Erin Currey, William Craigen, Charis Eng, Birgit Funke, Madhuri Hegde, Ray E Hershberger, Rong Mao, Robert D Steiner, Lisa M Vincent, Christa L Martin, Sharon E Plon, Erin Ramos, Michael J Bamshad, Michael Watson, Jonathan S Berg
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation. Human mutation 39 (11) (2019)