E-LIB Suche - Ergebnisse für: Chong, Jessica X

1

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygou..:

Patterson, Karynne ; Chong, Jessica X. ; Chung, Doug D....
American Journal of Ophthalmology. 258 (2024) - p. 183-195 , 2024

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

2

The phenotypic and genotypic spectrum of individuals with m..:

Furia, Francesca ; Levy, Amanda M. ; Theunis, Miel...
Clinical Genetics. , 2024

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

3

GPAD: a natural language processing-based application to ex..:

Rahit, K. M. Tahsin Hassan ; Avramovic, Vladimir ; Chong, Jessica X..
BMC Bioinformatics. 25 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

4

Considerations for reporting variants in novel candidate ge..:

Chong, Jessica X. ; Berger, Seth I. ; Baxter, Samantha...
Genetics in Medicine. , 2024

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

5

STR mutations on chromosome 15q cause thyrotropin resistanc..:

Grasberger, Helmut ; Dumitrescu, Alexandra M. ; Liao, Xiao-Hui...
Nature Genetics. 56 (2024) 5 - p. 877-888 , 2024

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

6

De novo variants in GATAD2A in individuals with a neurodeve..:

Werren, Elizabeth A. ; Guxholli, Alba ; Jones, Natasha...
Human Genetics and Genomics Advances. 4 (2023) 3 - p. 100198 , 2023

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

7

Rare variants in CAPN2 increase risk for isolated hypoplast..:

Blue, Elizabeth E. ; White, Janson J. ; Dush, Michael K....
Human Genetics and Genomics Advances. 4 (2023) 4 - p. 100232 , 2023

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

8

Beyond the exome: What's next in diagnostic testing for Men..:

Wojcik, Monica H. ; Reuter, Chloe M. ; Marwaha, Shruti...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1229-1248 , 2023

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

9

Exome‐wide assessment of isolated biliary atresia: A report..:

Sok, Pagna ; Sabo, Aniko ; Almli, Lynn M....
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1546-1556 , 2023

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

10

Variants in ACTC1 underlie distal arthrogryposis accompanie..:

Chong, Jessica X. ; Childers, Matthew Carter ; Marvin, Colby T....
Human Genetics and Genomics Advances. 4 (2023) 3 - p. 100213 , 2023

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

11

Precision medicine for developmental and epileptic encephal..:

Esterhuizen, Alina I. ; Tiffin, Nicki ; Riordan, Gillian...
Genetics in Medicine. 25 (2023) 2 - p. 100333 , 2023

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

12

Centers for Mendelian Genomics: A decade of facilitating ge..:

Baxter, Samantha M. ; Posey, Jennifer E. ; Lake, Nicole J....
Genetics in Medicine. 24 (2022) 4 - p. 784-797 , 2022

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

13

Exome sequencing identifies genetic variants in anophthalmi..:

Li, Jingjing ; Yang, Wei ; Wang, Yuejun Jessie...
American Journal of Medical Genetics Part A. 188 (2022) 8 - p. 2376-2388 , 2022

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

14

Pleiotropic modifiers of age-related diabetes and neonatal ..:

Aksit, Melis A. ; Ling, Hua ; Pace, Rhonda G....
The American Journal of Human Genetics. 109 (2022) 10 - p. 1894-1908 , 2022

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

15

Variant‐level matching for diagnosis and discovery: Challen..:

Rodrigues, Eliete da S. ; Griffith, Sean ; Martin, Renan...
Human Mutation. , 2022

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