Mythily Ganapathi, PhD

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Overview
Credentials & Experience
Research

Overview

Email: mg3560@cumc.columbia.edu

Academic Appointments

Assistant Professor of Pathology & Cell Biology at CUMC

Administrative Titles

Assistant Director, Cytogenetics

Gender

Female

Credentials & Experience

Education & Training

1998 B.Sc. Honors (Biochemistry), University of Delhi
2000 M.Sc. (Biomedical Sciences), University of Delhi
PhD, 2006 CSIR-Institute of Genomics and Integrative Biology (New Delhi, India)
Fellowship: 2017 Columbia University Medical Center

Research

Selected Publications

Original, Peer Reviewed Articles:
Impact of preemptive rapid testing for glucose-6-phosphate dehydrogenase deficiency prior to rasburicase administration at a tertiary care center: a retrospective study. Mythily Ganapathi#, Peter Campbell, Kenneth Ofori, Vimla Aggarwal, Richard O. Francis and Alexander Kratz. Br J Clin Pharmacol. 2022. Accepted
Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families. Daum H*, Ganapathi M*, Hirsch Y, Griffin EL, LeDuc CA, Hagen J, Yagel S, Meiner V, Chung WK, Mor-Shaked H. Am J Med Genet A. 2021 Sep 29. doi:10.1002/ajmg.a.62513.
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature. Kushary ST, Revah-Politi A, Barua S, Ganapathi M, Accogli A, Aggarwal V, Brunetti-Pierri N, Cappuccio G, Capra V, Fagerberg CR, Gazdagh G, Guzman E, Hadonou M, Harrison V, Havelund K, Iancu D, Kraus A, Lippa NC, Mansukhani M, McBrian D, McEntagart M, Pacio-Míguez M, Palomares-Bralo M, Pottinger C, Ruivenkamp CAL, Sacco O, Santen GWE, Santos-Simarro F, Scala M, Short J, S?rensen KP, Woods CG; DDD Study; TUDP Consortium, Anyane Yeboa K. Am J Med Genet A. 2021 Jul 31. doi: 10.1002/ajmg.a.62445.
Novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function. 1. Al-Deri N, Okur V, Ahimaz P, Milev M, Valivullah Z, Hagen J, Sheng Y, Chung W, Sacher M#, Ganapathi M#. J Med Genet. 2020 Aug 25:jmedgenet-2020-107016. doi:10.1136/jmedgenet-2020-107016.
Causal Genetic Variants in Stillbirth. Stanley KE, Giordano J, Thorsten V, Buchovecky C, Thomas A, Ganapathi M, Liao J, Dharmadhikari AV, Revah-Politi A, Ernst M, Lippa N, Holmes H, Povysil G, Hostyk J, Parker CB, Goldenberg R, Saade GR, Dudley DJ, Pinar H, Hogue C, Reddy UM, Silver RM, Aggarwal V, Allen AS, Wapner RJ, Goldstein DB. N Engl J Med. 2020 Sep 17;383(12):1107-1116.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum. Motta M, Pannone L, Pantaleoni F, Bocchinfuso G, Radio FC, Cecchetti S, Ciolfi A, Di Rocco M, Elting MW, Brilstra EH, Boni S, Mazzanti L, Tamburrino F, Walsh L, Payne K, Fernández-Jaén A, Ganapathi M, Chung WK, Grange DK, Dave-Wala A, Reshmi SC, Bartholomew DW, Mouhlas D, Carpentieri G, Bruselles A, Pizzi S, Bellacchio E, Piceci-Sparascio F, Li?ewski C, Brinkmann J, Waclaw RR, Waisfisz Q, van Gassen K, Wentzensen IM, Morrow MM, álvarez S, Martínez-García M, De Luca A, Memo L, Zampino G, Rossi C, Seri M, Gelb BD, Zenker M, Dallapiccola B, Stella L, Prada CE,? Martinelli S, Flex E, Tartaglia M. Am J Hum Genet. 2020 Sep 3;107(3):499-513.
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis. Ganapathi M*#, Argyriou L*, Martínez-Azorín F, Morlot S, Yigit G, Lee TM, Auber B, von Gise A, Petrey DS, Thiele H, Cyganek L, Sabater-Molina M, Ahimaz P, Cabezas-Herrera J, Sorlí-García M, Zibat A, Siegelin MD, Burfeind P, Buchovecky CM, Hasenfuss G, Honig B, Li Y, Iglesias AD, Wollnik B#. Hum Genet. 2020 Jun 8. doi: 10.1007/s00439-020-02188-6.
“One of the most frequently downloaded paper from HUMAN GENETICS journal in 2020”
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder. Ganapathi M, Padgett LR, Yamada K, Devinsky O, Willaert R, Person R, Au PB, Tagoe J, McDonald M, Karlowicz D, Wolf B, Lee J, Shen Y, Okur V, Deng L, LeDuc CA, Wang J, Hanner A, Mirmira RG, Park MH, Mastracci TL, Chung WK. Am J Hum Genet. 2019 Feb 7;104(2):287-298.
Effect of Bmi1 over-expression on gene expression in adult and embryonic murine neural stem cells. Ganapathi M, Boles NC, Charniga C, Lotz S, Campbell M, Temple S, Morse RH. Sci Rep. 2018 May 10;8(1):7464.
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series. Revah-Politi A, Ganapathi M, Bier L, Cho MT, Goldstein DB, Hemati P, Iglesias A, Juusola J, Pappas J, Petrovski S, Wilson AL, Aggarwal VS, Anyane-Yeboa K. Am J Med Genet A. 2017 Sep 22. doi:10.1002/ajmg.a.38460.