Mythily Ganapathi, PhD

Original, Peer Reviewed Articles:

• Biallelic Variants in TUBGCP6 result in Microcephaly and Chorioretinopathy 1: Report of four cases and a literature review. Amanda Thomas-Wilson, John P. Schacht, David Chitayat, Susan Blaser, Francis Jeshira Reynoso Santos, Kimberly Glaser, Alesky Caffo, Ingrid Wentzensen, Lindsay Henderson, Futao Zhang, Ying Zhu, Ellen Di Corleto, Fabricio da Silva Costa, Rebecca Vink, Ebba Alkhunaizi, Laura Russell, Michael F Buckley, Tony Roscioli, Elaine Maria Pereira#, Mythily Ganapathi#. Am J Med Genet A. 2023 (accepted)
• Detection of mosaic variants using genome sequencing in a large pediatric cohort. Odgis JA, Gallagher KM, Rehman AU, Marathe PN, Bonini KE, Sebastin M, Di Biase M, Brown K, Kelly NR, Ramos MA, Thomas-Wilson A, Guha S, Okur V, Ganapathi M, Elkhoury L, Edelmann L, Zinberg RE, Abul-Husn NS, Diaz GA, Greally JM, Suckiel SA, Jobanputra V, Horowitz CR, Kenny EE, Wasserstein MP, Gelb BD. Am J Med Genet A. 2023 Mar;191(3):699-710.
• De novo missense variants in SLC32A1 cause a developmental and epileptic encephalopathy due to impaired GABAergic neurotransmission. Konrad Platzer, Heinrich Sticht, Caleb Bupp, Mythily Ganapathi, Elaine M. Pereira, Gwenaël Le Guyader, Frederic Bilan, Lindsay B. Henderson, Johannes R. Lemke, Holger Taschenberger, Nils Brose, Rami Abou Jamra, Sonja M. Wojcik. Ann Neurol. 2022 Dec;92(6):958-973.
• Clinical exome sequencing for inherited retinal degenerations at a tertiary care center. Ganapathi M*, Thomas-Wilson A*, Buchovecky C, Dharmadhikari A, Barua S, Lee W, Ruan MZC, Soucy M, Ragi S, Tanaka J, Clark LN, Naini AB, Liao J, Mansukhani M, Tsang S, Jobanputra V. Sci Rep. 2022 Jun 7;12(1):9358.
• A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. Ganapathi M*, Friocourt G*, Gueguen N*, Friederich MW*, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. J Inherit Metab Dis. 2022 May 27. doi: 10.1002/jimd.12526.
• 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, Sørensen KP, Woods CG; DDD Study; TUDP Consortium, Anyane Yeboa K. Am J Med Genet A. 2021 Dec;185(12):3740-3753. 
  (One of the top downloaded papers from AMERICAN JOURNAL MEDICAL GENETICS A journal in 2021)
• 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, Lißewski 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.