Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Mythily, Ganapathi"'
Autor:
Mythily Ganapathi, Amanda Thomas-Wilson, Christie Buchovecky, Avinash Dharmadhikari, Subit Barua, Winston Lee, Merry Z. C. Ruan, Megan Soucy, Sara Ragi, Joy Tanaka, Lorraine N. Clark, Ali B. Naini, Jun Liao, Mahesh Mansukhani, Stephen Tsang, Vaidehi Jobanputra
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)
Abstract Inherited retinal degenerations are clinically and genetically heterogeneous diseases characterized by progressive deterioration of vision. This study aimed at assessing the diagnostic yield of exome sequencing (ES) for an unselected cohort
Externí odkaz:
https://doaj.org/article/60c235675b5f4c62a81a925e0d5a5726
Autor:
Matthew Lebo, Marcie Steeves, Katherine Benson, Laura Conlin, Mythily Ganapathi, Vaidehi Jobanputra, Minjie Luo, Deqiong Ma, Kelly McGoldrick, Blake Palculict, Heidi Rehm, Panagiotis Sergouniotis, Samantha Schilit, Pinar Bayrak-Toydemir, Tatiana Tvrdik, Nicholas Watkins, Lauren Zec, Wenying Zhang Zhang, Ryan Schmidt
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100457- (2023)
Externí odkaz:
https://doaj.org/article/8a665122ab624072847b796a9fdf6843
Autor:
Avinash V. Dharmadhikari, Elaine M. Pereira, Carli C . Andrews, Michael Macera, Nina Harkavy, Ronald Wapner, Vaidehi Jobanputra, Brynn Levy, Mythily Ganapathi, Jun Liao
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Partial tetrasomy of distal 13q has a reported association with a variable phenotype including microphthalmia, ear abnormalities, hypotelorism, facial dysmorphisms, urogenital defects, pigmentation and skin defects, and severe learning difficulties.
Externí odkaz:
https://doaj.org/article/3ce880fd0b974a6aa678d8a6d772b531
Autor:
Jacqueline A. Odgis, Katie M. Gallagher, Atteeq U. Rehman, Priya N. Marathe, Katherine E. Bonini, Monisha Sebastin, Miranda Di Biase, Kaitlyn Brown, Nicole R. Kelly, Michelle A. Ramos, Amanda Thomas‐Wilson, Saurav Guha, Volkan Okur, Mythily Ganapathi, Lama Elkhoury, Lisa Edelmann, Randi E. Zinberg, Noura S. Abul‐Husn, George A. Diaz, John M. Greally, Sabrina A. Suckiel, Vaidehi Jobanputra, Carol R. Horowitz, Eimear E. Kenny, Melissa P. Wasserstein, Bruce D. Gelb
Publikováno v:
American Journal of Medical Genetics Part A. 191:699-710
The increased use of next-generation sequencing has expanded our understanding of the involvement and prevalence of mosaicism in genetic disorders. We describe a total of eleven cases: nine in which mosaic variants detected by genome sequencing (GS)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6f35f3c56efeb32b3b6d19ac7ec1b19
https://doi.org/10.1002/ajmg.a.63062
https://doi.org/10.1002/ajmg.a.63062
Autor:
Mythily Ganapathi, Nathan C. Boles, Carol Charniga, Steven Lotz, Melissa Campbell, Sally Temple, Randall H. Morse
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)
Abstract The ability of isolated neural stem cells (NSCs) to proliferate as neurospheres is indicative of their competence as stem cells, and depends critically on the polycomb group (PcG) member Bmi1: knockdown of Bmi1 results in defective prolifera
Externí odkaz:
https://doaj.org/article/bb6451d396854ca396639407b1055802
Autor:
Erin Rooney Riggs, Taylor I. Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret Bostwick, Alison Bright, Chun-An Chen, Amanda R. Clause, Avinash V. Dharmadhikari, Mythily Ganapathi, Claudia Gonzaga-Jauregui, Andrew R. Grant, Madeline Y. Hughes, Se Rin Kim, Amanda Krause, Jun Liao, Aimé Lumaka, Michelle Mah, Caitlin M. Maloney, Shruthi Mohan, Ikeoluwa A. Osei-Owusu, Emma Reble, Olivia Rennie, Juliann M. Savatt, Hermela Shimelis, Rebecca K. Siegert, Tam P. Sneddon, Courtney Thaxton, Kelly A. Toner, Kien Trung Tran, Ryan Webb, Emma H. Wilcox, Jiani Yin, Xinming Zhuo, Masa Znidarsic, Christa Lese Martin, Catalina Betancur, Jacob A.S. Vorstman, David T. Miller, Christian P. Schaaf
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩
International audience; Purpose: Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b07ead00b13dfac939c5dc9322d918b8
https://doi.org/10.1016/j.gim.2022.05.001
https://doi.org/10.1016/j.gim.2022.05.001
Autor:
Amanda Thomas‐Wilson, 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, Fabricio da Silva Costa, Rebecca Vink, Ebba Alkhunaizi, Laura Russell, Michael F. Buckley, Tony Roscioli, Elaine Maria Pereira, Mythily Ganapathi
Publikováno v:
American Journal of Medical Genetics Part A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f622e05bbac9d2388b6d4623bd85430a
https://doi.org/10.1002/ajmg.a.63203
https://doi.org/10.1002/ajmg.a.63203
Autor:
Mythily Ganapathi, Peter Campbell, Kenneth Ofori, Vimla Aggarwal, Richard O. Francis, Alexander Kratz
Publikováno v:
British Journal of Clinical Pharmacology. 88:4163-4170
Glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common enzymopathy in humans, can cause acute haemolysis resulting from exposure to certain medications, chemicals, infections and fava beans. Rasburicase, used to manage elevated uric aci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a93636e43d7fd71e5420d4da0d3a6948
https://doi.org/10.1111/bcp.15353
https://doi.org/10.1111/bcp.15353
Autor:
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
Publikováno v:
Annals of Neurology
Objective: Rare inherited missense variants in SLC32A1, the gene that encodes the vesicular gamma-aminobutyric acid (GABA) transporter, have recently been shown to cause genetic epilepsy with febrile seizures plus. We aimed to clarify if de novo miss
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10995b1b9c9da07811cc2b5de15ad672
https://hdl.handle.net/21.11116/0000-000C-9FCD-B21.11116/0000-000B-40CD-6
https://hdl.handle.net/21.11116/0000-000C-9FCD-B21.11116/0000-000B-40CD-6
Autor:
Hagar Mor-Shaked, Simcha Yagel, Charles A. LeDuc, Emily Griffin, Hagit Daum, Wendy K. Chung, Vardiella Meiner, Jacob J. Hagen, Yoel Hirsch, Mythily Ganapathi
Publikováno v:
American Journal of Medical Genetics Part A. 188:336-342
Exome and genome sequencing were used to identify the genetic etiology of a severe neurodevelopmental disorder in two unrelated Ashkenazi Jewish families with three affected individuals. The clinical findings included a prenatal presentation of micro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0c547521dc86567ac7f2c38807b798ab
https://doi.org/10.1002/ajmg.a.62513
https://doi.org/10.1002/ajmg.a.62513