E-LIB Suche - Ergebnisse für: Ganapathi, Mythily

1

Homozygous missense variants in YKT6 result in loss of func..:

Ma, Mengqi ; Ganapathi, Mythily ; Zheng, Yiming...
Genetics in Medicine. 26 (2024) 7 - p. 101125 , 2024

Link: https://doi.org/10.1016/..

2

Recommendations for risk allele evidence curation, classifi..:

Schmidt, Ryan J. ; Steeves, Marcie ; Bayrak-Toydemir, Pinar...
Genetics in Medicine. 26 (2024) 3 - p. 101036 , 2024

Link: https://doi.org/10.1016/..

3

Multisite Evaluation and Validation of Optical Genome Mappi..:

Levy, Brynn ; Liu, Jie ; Iqbal, M. Anwar...
The Journal of Molecular Diagnostics. , 2024

Link: https://doi.org/10.1016/..

4

169 Curating the fetal genome: experience of the ClinGen pr..:

Galloway, Stephanie ; Giordano, Jessica L. ; Thomas-Wilson, Amanda...
American Journal of Obstetrics and Gynecology. 230 (2024) 1 - p. S106 , 2024

Link: https://doi.org/10.1016/..

5

Biallelic potential disease-causing missense variants in TA..:

Jiang, Nan ; Xu, Wenyuan ; Abdelhakim, Aliaa...
European Journal of Medical Genetics. 71 (2024) - p. 104968 , 2024

Link: https://doi.org/10.1016/..

6

Pathogenic heterozygous TRPM7 variants and hypomagnesemia w..:

Bosman, Willem ; Butler, Kameryn M ; Chang, Caitlin A...
Clinical Kidney Journal. 17 (2024) 8 - p. , 2024

Link: https://doi.org/10.1093/..

7

Biallelic variants in TUBGCP6 result in microcephaly and ch..:

Thomas‐Wilson, Amanda ; Schacht, John P. ; Chitayat, David...
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1935-1941 , 2023

Link: https://doi.org/10.1002/..

8

O31: Risk allele evidence curation, classification, and rep..:

Lebo, Matthew ; Steeves, Marcie ; Benson, Katherine...
Genetics in Medicine Open. 1 (2023) 1 - p. 100457 , 2023

Link: https://doi.org/10.1016/..

9

A deep intronic DLG4 variant resulting in DLG4‐related syna..:

Levy, Amanda M. ; Ganapathi, Mythily ; Chung, Wendy K..
Clinical Genetics. 105 (2023) 1 - p. 77-80 , 2023

Link: https://doi.org/10.1111/..

10

Heterozygous rare variants in NR2F2 cause a recognizable mu..:

Ganapathi, Mythily ; Matsuoka, Leticia S. ; March, Michael...
European Journal of Human Genetics. 31 (2023) 10 - p. 1117-1124 , 2023

Link: https://doi.org/10.1038/..

11

Detection of mosaic variants using genome sequencing in a l..:

Odgis, Jacqueline A. ; Gallagher, Katie M. ; Rehman, Atteeq U....
American Journal of Medical Genetics Part A. 191 (2022) 3 - p. 699-710 , 2022

Link: https://doi.org/10.1002/..

12

A homozygous splice variant in ATP5PO, disrupts mitochondri..:

Ganapathi, Mythily ; Friocourt, Gaelle ; Gueguen, Naig...
Journal of Inherited Metabolic Disease. 45 (2022) 5 - p. 996-1012 , 2022

Link: https://doi.org/10.1002/..

13

Clinical validity assessment of genes frequently tested on ..:

Riggs, Erin Rooney ; Bingaman, Taylor I. ; Barry, Carrie-Ann...
Genetics in Medicine. 24 (2022) 9 - p. 1899-1908 , 2022

Link: https://doi.org/10.1016/..

14

Impact of pre‐emptive rapid testing for glucose‐6‐phosphate..:

Ganapathi, Mythily ; Campbell, Peter ; Ofori, Kenneth...
British Journal of Clinical Pharmacology. 88 (2022) 9 - p. 4163-4170 , 2022

Link: https://doi.org/10.1111/..

15

Case Report: Prenatal Identification of a De Novo Mosaic Ne..:

Dharmadhikari, Avinash V. ; Pereira, Elaine M. ; Andrews, Carli C ....
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..