🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Mythily Ganapathi

Columbia University Irving Medical Center

ORCID: 0000-0003-2834-0843

Biochemistry, Genetics and Molecular BiologyAgricultural and Biological Sciences

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 14 papers. Top paper: “Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis”.

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

Human Genetics(2020)10.1007/s00439-020-02188-6

N/A

2.1DataRank · unranked

32 citations

Loukas Argyriou, Francisco Martínez‐Azorín, Susanne Morlot, Gökhan Yiğit, Teresa M. Lee +19 more

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0.789DataRank · unranked

192 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 more

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

European Journal of Human Genetics(2023)10.1038/s41431-023-01434-5

N/A

0.494DataRank · unranked

26 citations

Leticia S. Matsuoka, Michael March, Dong Li, Elly Brokamp, Sara Benito‐Sanz +32 more

Machine learning–based penetrance of genetic variants

Science(2025)10.1126/science.adm7066

N/A

0.292DataRank · unranked

6 citations

Ha My T. Vy, Ghislain Rocheleau, Daniel M. Jordan, Ben Omega Petrazzini, Girish N. Nadkarni +6 more

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

Genetics in Medicine(2022)10.1016/j.gim.2022.05.001

N/A

0DataRank · unranked

25 citations

Taylor I. Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret L. Bostwick +36 more

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Journal of Inherited Metabolic Disease(2022)10.1002/jimd.12526

N/A

0DataRank · unranked

17 citations

Gaëlle Friocourt, Naïg Guéguen, Marisa W. Friederich, Gérald Le Gac, Volkan Okur +34 more

Detection of mosaic variants using genome sequencing in a large pediatric cohort

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.63062

N/A

0DataRank · unranked

14 citations

Katie M. Gallagher, Atteeq U. Rehman, Priya Marathe, Katherine E. Bonini, Monisha Sebastin +21 more

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

Genetics in Medicine(2023)10.1016/j.gim.2023.101036

N/A

0DataRank · unranked

70 citations

Marcie Steeves, Pınar Bayrak‐Toydemir, Katherine A. Benson, Bradley P. Coe, Laura K. Conlin +42 more

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Journal of Clinical Investigation(2023)10.1172/jci171235

N/A

0DataRank · unranked

44 citations

Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch +95 more

Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma

Genetics in Medicine(2024)10.1016/j.gim.2024.101125

N/A

0DataRank · unranked

3 citations

Mythily Ganapathi, Yiming Zheng, Kai-Li Tan, Oguz Kanca, Kevin E. Bove +21 more

Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy

European Journal of Medical Genetics(2024)10.1016/j.ejmg.2024.104968

N/A

0DataRank · unranked

1 citations

Wenyuan Xu, Aliaa H. Abdelhakim, Anastasiya Matveyenko, Matthias Szabolcs, William C. Copeland +6 more

Causal Genetic Variants in Stillbirth

New England Journal of Medicine(2020)10.1056/nejmoa1908753

N/A

0DataRank · unranked

140 citations

Jessica L. Giordano, Vanessa Thorsten, Christie M. Buchovecky, Amanda Thomas‐Wilson, Mythily Ganapathi +21 more

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.018

N/A

0DataRank · unranked

93 citations

Luca Pannone, Francesca Pantaleoni, Gianfranco Bocchinfuso, Francesca Clementina Radio, Serena Cecchetti +45 more

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62445

N/A

0DataRank · unranked

27 citations

Anya Revah‐Politi, Subit Barua, Mythily Ganapathi, Andrea Accogli, Vimla S. Aggarwal +29 more