Mythily Ganapathi

ORCID

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 8

Top Venues

Journal of inherited metabolic disease

Annals of neurology

American journal of medical genetics. Part A

European journal of human genetics : EJHG

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

Publications

Amanda L Thomas, John P Schacht, David Chitayat, Susan Blaser, Francis Jeshira Reynoso Santos, Kimberly Glaser, Alesky Caffo, Ingrid M Wentzensen, Lindsay B Henderson, Futao Zhang, Ying Zhu, Ellen Di Corleto, Fabrício da Silva Costa, Rebecca Vink, Ebba Alkhunaizi, Laura Russell, Michael F Buckley, Tony Roscioli, Elaine Maria Pereira, Mythily Ganapathi
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review. American journal of medical genetics. Part A (2023)
Mythily Ganapathi, Leticia S Matsuoka, Michael March, Dong Li, Elly Brokamp, Sara Benito-Sanz, Susan M White, Katherine Lachlan, Priyanka Ahimaz, Anshuman Sewda, Lisa Bastarache, Amanda Thomas-Wilson, Joan M Stoler, Nuria C Bramswig, Júlia Baptista, Karen L Stals, Florence Demurger, Benjamin Cogné, Bertrand Isidor, Maria Francesca Bedeschi, Angela Peron, Jeanne Amiel, Elaine H Zackai, John P Schacht, Alejandro D Iglesias, Jenny Morton, Ariane Schmetz, null null, Verónica Seidel, Stephanie Lucia, Stephanie M Baskin, Isabelle Thiffault, Joy D Cogan, Christopher T Gordon, Wendy K Chung, Sarah Bowdin, Elizabeth Joyce Bhoj
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. European journal of human genetics : EJHG (2023)
Mythily Ganapathi, Peter Campbell, Kenneth Ofori, Vimla Aggarwal, Richard O Francis, Alexander Kratz
Impact of pre-emptive rapid testing for glucose-6-phosphate dehydrogenase deficiency prior to rasburicase administration at a tertiary care centre: A retrospective study. British journal of clinical pharmacology 88 (9) (2022)
Mythily Ganapathi, Christie M Buchovecky, Fernando Cristo, Priyanka Ahimaz, Carrie Ruzal-Shapiro, Karen Wou, José M Inácio, Alejandro Iglesias, José A Belo, Vaidehi Jobanputra
A Novel Biallelic Loss-of-Function Variant in DAND5 Causes Heterotaxy Syndrome. Cold Spring Harbor molecular case studies (2022)
Konrad Platzer, Heinrich Sticht, Caleb P Bupp, Mythily Ganapathi, Elaine Maria Pereira, Gwenaël L E Guyader, Frederic Bilan, Lindsay B Henderson, Johannes R Lemke, Holger Taschenberger, Nils Brose, Rami Abou Jamra, Sonja M Wojcik
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission. Annals of neurology 92 (6) (2022)
Mythily Ganapathi, Gaelle Friocourt, Naig Gueguen, Marisa W Friederich, Gerald Le Gac, Volkan Okur, Nadège Loaëc, Thomas Ludwig, Chandran Ka, Kurenai Tanji, Pascale Marcorelles, Evangelos Theodorou, Angela Lignelli-Dipple, Cécile Voisset, Melissa A Walker, Lauren C Briere, Amélie Bourhis, Marc Blondel, Charles A LeDuc, Jacob Hagen, Cathleen Cooper, Colleen Muraresku, Claude Ferec, Armelle Garenne, Servane Lelez-Soquet, Cassandra A Rogers, Yufeng Shen, Dana K Strode, Peyman Bizargity, Alejandro Iglesias, Amy Goldstein, Frances A High, Undiagnosed Diseases Network, David A Sweetser, Rebecca D Ganetzky, Johan L K Van Hove, Vincent Procaccio, Cedric Le Marechal, Wendy K Chung
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. Journal of inherited metabolic disease 45 (5) (2022)
Noraldin Al-Deri, Volkan Okur, Priyanka Ahimaz, Miroslav Milev, Zaheer Valivullah, Jacob Hagen, Yufeng Sheng, Wendy Chung, Michael Sacher, Mythily Ganapathi
A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function. Journal of medical genetics 58 (9) (2020)
Mythily Ganapathi, Loukas Argyriou, Francisco Martínez-Azorín, Susanne Morlot, Gökhan Yigit, Teresa M Lee, Bernd Auber, Alexander von Gise, Donald S Petrey, Holger Thiele, Lukas Cyganek, Maria Sabater Molina, Priyanka Ahimaz, Juan Cabezas-Herrera, Moisés Sorlí, Arne Zibat, Markus D Siegelin, Peter Burfeind, Christie M Buchovecky, Gerd Hasenfuss, Barry Honig, Yun Li, Alejandro D Iglesias, Bernd Wollnik
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis. Human genetics 139 (11) (2020)

Mythily Ganapathi.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Mythily Ganapathi