OpenURL Connection Search

Select item for more details and to access through your institution.

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-13026-2
By:
- Ganapathi, Mythily;
- Thomas-Wilson, Amanda;
- Buchovecky, Christie;
- Dharmadhikari, Avinash;
- Barua, Subit;
- Lee, Winston;
- Ruan, Merry Z. C.;
- Soucy, Megan;
- Ragi, Sara;
- Tanaka, Joy;
- Clark, Lorraine N.;
- Naini, Ali B.;
- Liao, Jun;
- Mansukhani, Mahesh;
- Tsang, Stephen;
- Jobanputra, Vaidehi
Publication type:
Article
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
Published in:
2015
By:
- Mercier, Sandra;
- Küry, Sébastien;
- Salort-Campana, Emmanuelle;
- Magot, Armelle;
- Agbim, Uchenna;
- Besnard, Thomas;
- Bodak, Nathalie;
- Bou-Hanna, Chantal;
- Bréhéret, Flora;
- Brunelle, Perrine;
- Caillon, Florence;
- Chabrol, Brigitte;
- Cormier-Daire, Valérie;
- David, Albert;
- Eymard, Bruno;
- Faivre, Laurence;
- Figarella-Branger, Dominique;
- Fleurence, Emmanuelle;
- Ganapathi, Mythily;
- Gherardi, Romain
Publication type:
journal article
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
Published in:
Human Genetics, 2020, v. 139, n. 11, p. 1443, doi. 10.1007/s00439-020-02188-6
By:
- Ganapathi, Mythily;
- Argyriou, Loukas;
- Martínez-Azorín, Francisco;
- Morlot, Susanne;
- Yigit, Gökhan;
- Lee, Teresa M.;
- Auber, Bernd;
- von Gise, Alexander;
- Petrey, Donald S.;
- Thiele, Holger;
- Cyganek, Lukas;
- Sabater-Molina, María;
- Ahimaz, Priyanka;
- Cabezas-Herrera, Juan;
- Sorlí-García, Moisés;
- Zibat, Arne;
- Siegelin, Markus D.;
- Burfeind, Peter;
- Buchovecky, Christie M.;
- Hasenfuss, Gerd
Publication type:
Article
Extensive role of the general regulatory factors, Abf1 and Rap1, in determining genome-wide chromatin structure in budding yeast.
Published in:
Nucleic Acids Research, 2011, v. 39, n. 6, p. 2032, doi. 10.1093/nar/gkq1161
By:
- Ganapathi, Mythily;
- Palumbo, Michael J.;
- Ansari, Suraiya A.;
- He, Qiye;
- Tsui, Kyle;
- Nislow, Corey;
- Morse, Randall H.
Publication type:
Article
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1935, doi. 10.1002/ajmg.a.63203
By:
- Thomas‐Wilson, Amanda;
- Schacht, John P.;
- Chitayat, David;
- Blaser, Susan;
- Santos, Francis Jeshira Reynoso;
- Glaser, Kimberly;
- Caffo, Alesky;
- Wentzensen, Ingrid M.;
- Henderson, Lindsay B.;
- Zhang, Futao;
- Zhu, Ying;
- Di Corleto, Ellen;
- da Silva Costa, Fabricio;
- Vink, Rebecca;
- Alkhunaizi, Ebba;
- Russell, Laura;
- Buckley, Michael F.;
- Roscioli, Tony;
- Pereira, Elaine Maria;
- Ganapathi, Mythily
Publication type:
Article
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 699, doi. 10.1002/ajmg.a.63062
By:
- Odgis, Jacqueline A.;
- Gallagher, Katie M.;
- Rehman, Atteeq U.;
- Marathe, Priya N.;
- Bonini, Katherine E.;
- Sebastin, Monisha;
- Di Biase, Miranda;
- Brown, Kaitlyn;
- Kelly, Nicole R.;
- Ramos, Michelle A.;
- Thomas‐Wilson, Amanda;
- Guha, Saurav;
- Okur, Volkan;
- Ganapathi, Mythily;
- Elkhoury, Lama;
- Edelmann, Lisa;
- Zinberg, Randi E.;
- Abul‐Husn, Noura S.;
- Diaz, George A.;
- Greally, John M.
Publication type:
Article
Bi‐allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 336, doi. 10.1002/ajmg.a.62513
By:
- Daum, Hagit;
- Ganapathi, Mythily;
- Hirsch, Yoel;
- Griffin, Emily L.;
- LeDuc, Charles A.;
- Hagen, Jacob;
- Yagel, Simcha;
- Meiner, Vardiella;
- Chung, Wendy K.;
- Mor‐Shaked, Hagar
Publication type:
Article
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3740, doi. 10.1002/ajmg.a.62445
By:
- Kushary, Sulagna Tina;
- Revah‐Politi, Anya;
- Barua, Subit;
- Ganapathi, Mythily;
- Accogli, Andrea;
- Aggarwal, Vimla;
- Brunetti‐Pierri, Nicola;
- Cappuccio, Gerarda;
- Capra, Valeria;
- Fagerberg, Christina R.;
- Gazdagh, Gabriella;
- Guzman, Edwin;
- Hadonou, Medard;
- Harrison, Victoria;
- Havelund, Kathrine;
- Iancu, Daniela;
- Kraus, Alison;
- Lippa, Natalie C.;
- Mansukhani, Mahesh;
- McBrian, Danielle
Publication type:
Article
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3158, doi. 10.1002/ajmg.a.38460
By:
- Revah‐Politi, Anya;
- Ganapathi, Mythily;
- Bier, Louise;
- Cho, Megan T.;
- Goldstein, David B.;
- Hemati, Parisa;
- Iglesias, Alejandro;
- Juusola, Jane;
- Pappas, John;
- Petrovski, Slavé;
- Wilson, Ashley L.;
- Aggarwal, Vimla S.;
- Anyane‐Yeboa, Kwame
Publication type:
Article
FTO variant associated with malformation syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1023, doi. 10.1002/ajmg.a.37515
By:
- Rohena, Luis;
- Lawson, Michelle;
- Guzman, Edwin;
- Ganapathi, Mythily;
- Cho, Megan T.;
- Haverfield, Eden;
- Anyane‐Yeboa, Kwame
Publication type:
Article
Role of intrinsic disorder in transient interactions of hub proteins.
Published in:
Proteins, 2007, v. 66, n. 4, p. 761, doi. 10.1002/prot.21281
By:
- Singh, Gajinder Pal;
- Ganapathi, Mythily;
- Dash, Debasis
Publication type:
Article
Intrinsic unstructuredness and abundance of PEST motifs in eukaryotic proteomes.
Published in:
Proteins, 2006, v. 62, n. 2, p. 309, doi. 10.1002/prot.20746
By:
- Singh, Gajinder Pal;
- Ganapathi, Mythily;
- Sandhu, Kuljeet Singh;
- Dash, Debasis
Publication type:
Article
Impact of pre‐emptive rapid testing for glucose‐6‐phosphate dehydrogenase deficiency prior to rasburicase administration at a tertiary care centre: A retrospective study.
Published in:
British Journal of Clinical Pharmacology, 2022, v. 88, n. 9, p. 4163, doi. 10.1111/bcp.15353
By:
- Ganapathi, Mythily;
- Campbell, Peter;
- Ofori, Kenneth;
- Aggarwal, Vimla;
- Francis, Richard O.;
- Kratz, Alexander
Publication type:
Article
Distinct role of Mediator tail module in regulation of SAGA-dependent, TATA-containing genes in yeast.
Published in:
EMBO Journal, 2012, v. 31, n. 1, p. 44, doi. 10.1038/emboj.2011.362
By:
- Ansari, Suraiya A;
- Ganapathi, Mythily;
- Benschop, Joris J;
- Holstege, Frank C P;
- Wade, Joseph T;
- Morse, Randall H
Publication type:
Article
Comparative analysis of chromatin landscape in regulatory regions of human housekeeping and tissue specific genes.
Published in:
BMC Bioinformatics, 2005, v. 6, p. 126, doi. 10.1186/1471-2105-6-126
By:
- Ganapathi, Mythily;
- Srivastava, Pragya;
- Kumar Das Sutar, Sushanta;
- Kumar, Kaushal;
- Dasgupta, Dipayan;
- Pal Singh, Gajinder;
- Brahmachari, Vani;
- Brahmachari, Samir K.
Publication type:
Article
Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay.
Published in:
Clinical Kidney Journal, 2024, v. 17, n. 8, p. 1, doi. 10.1093/ckj/sfae211
By:
- Bosman, Willem;
- Butler, Kameryn M;
- Chang, Caitlin A;
- Ganapathi, Mythily;
- Guzman, Edwin;
- Latta, Femke;
- Chung, Wendy K;
- Claverie-Martin, Felix;
- Davis, Jessica M;
- Hoenderop, Joost G J;
- Baaij, Jeroen H F de
Publication type:
Article
A deep intronic DLG4 variant resulting in DLG4‐related synaptopathy.
Published in:
Clinical Genetics, 2024, v. 105, n. 1, p. 77, doi. 10.1111/cge.14411
By:
- Levy, Amanda M.;
- Ganapathi, Mythily;
- Chung, Wendy K.;
- Tümer, Zeynep
Publication type:
Article
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.
Published in:
Annals of Neurology, 2022, v. 92, n. 6, p. 958, doi. 10.1002/ana.26485
By:
- Platzer, Konrad;
- Sticht, Heinrich;
- Bupp, Caleb;
- Ganapathi, Mythily;
- Pereira, Elaine M.;
- Le Guyader, Gwenaël;
- Bilan, Frederic;
- Henderson, Lindsay B.;
- Lemke, Johannes R.;
- Taschenberger, Holger;
- Brose, Nils;
- Abou Jamra, Rami;
- Wojcik, Sonja M.
Publication type:
Article
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 996, doi. 10.1002/jimd.12526
By:
- Ganapathi, Mythily;
- Friocourt, Gaelle;
- Gueguen, Naig;
- Friederich, Marisa W.;
- Le Gac, Gerald;
- Okur, Volkan;
- Loaëc, Nadège;
- Ludwig, Thomas;
- Ka, Chandran;
- Tanji, Kurenai;
- Marcorelles, Pascale;
- Theodorou, Evangelos;
- Lignelli‐Dipple, Angela;
- Voisset, Cécile;
- Walker, Melissa A.;
- Briere, Lauren C.;
- Bourhis, Amélie;
- Blondel, Marc;
- LeDuc, Charles;
- Hagen, Jacob
Publication type:
Article
Comparative analysis of protein unfoldedness in human housekeeping and non-housekeeping proteins.
Published in:
Bioinformatics, 2004, v. 20, n. 17, p. 2904, doi. 10.1093/bioinformatics/bth344
By:
- Neeraj Pandey;
- Mythily Ganapathi
Publication type:
Article
Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl.
Published in:
2022
By:
- Dharmadhikari, Avinash V.;
- Pereira, Elaine M.;
- Andrews, Carli C.;
- Macera, Michael;
- Harkavy, Nina;
- Wapner, Ronald;
- Jobanputra, Vaidehi;
- Levy, Brynn;
- Ganapathi, Mythily;
- Liao, Jun
Publication type:
Case Study
A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006248
By:
- Ganapathi, Mythily;
- Buchovecky, Christie M.;
- Cristo, Fernando;
- Ahimaz, Priyanka;
- Ruzal-Shapiro, Carrie;
- Wou, Karen;
- Inácio, José M.;
- Iglesias, Alejandro;
- Belo, José A.;
- Jobanputra, Vaidehi
Publication type:
Article
Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006173
By:
- Thomas-Wilson, Amanda;
- Dharmadhikari, Avinash V.;
- Heymann, Jonas J.;
- Jobanputra, Vaidehi;
- DiMauro, Salvatore;
- Hirano, Michio;
- Naini, Ali B.;
- Ganapathi, Mythily
Publication type:
Article

Found: 23