E-LIB Suche - Ergebnisse für: Chao, Katherine

1

O11: An atlas of 1.2M structural variants across global pop..:

Brand, Harrison ; Zhao, Xuefang ; Fu, Jack...
Genetics in Medicine Open. 2 (2024) - p. 101015 , 2024

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

2

O43: Analysis of >800,000 diverse sequenced humans in gnomA..:

Rehm, Heidi ; Goodrich, Julia ; Chao, Katherine...
Genetics in Medicine Open. 2 (2024) - p. 101475 , 2024

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

3

More than a fancy exome: unique capabilities of genome sequ..:

Wojcik, Monica ; Chao, Katherine ; Goodrich, Julia...
Molecular Genetics and Metabolism. 132 (2021) - p. S88 , 2021

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

4

Genome Sequencing Identifies the Pathogenic Variant Missed ..:

Wojcik, Monica H. ; Thiele, Katri ; Grant, Carly F....
The Journal of Pediatrics. 213 (2019) - p. 235-240 , 2019

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

5

Biallelic CRELD1 variants cause a multisystem syndrome, inc..:

Jeffries, Lauren ; Mis, Emily K. ; McWalter, Kirsty...
Genetics in Medicine. 26 (2024) 2 - p. 101023 , 2024

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

6

Exome copy number variant detection, analysis, and classifi..:

Lemire, Gabrielle ; Sanchis-Juan, Alba ; Russell, Kathryn...
The American Journal of Human Genetics. 111 (2024) 5 - p. 863-876 , 2024

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

7

A harmonized public resource of deeply sequenced diverse hu..:

Koenig, Zan ; Yohannes, Mary T. ; Nkambule, Lethukuthula L....
Genome Research. , 2024

Link: https://doi.org/10.1101/..

8

Genome and RNA sequencing boost neuromuscular diagnoses to ..:

Marchant, Rhett G. ; Bryen, Samantha J. ; Bahlo, Melanie...
Annals of Clinical and Translational Neurology. 11 (2024) 5 - p. 1250-1266 , 2024

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

9

Recurrent de novoSPTLC2variant causes childhood-onset amyot..:

Syeda, Safoora B ; Lone, Museer A ; Mohassel, Payam...
Journal of Neurology, Neurosurgery & Psychiatry. 95 (2023) 2 - p. 103-113 , 2023

Link: https://doi.org/10.1136/..

10

Genomic autopsy to identify underlying causes of pregnancy ..:

Byrne, Alicia B. ; Arts, Peer ; Ha, Thuong T....
Nature Medicine. 29 (2023) 1 - p. 180-189 , 2023

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

11

Author Correction: Genomic autopsy to identify underlying c..:

Byrne, Alicia B. ; Arts, Peer ; Ha, Thuong T....
Nature Medicine. 30 (2023) 1 - p. 302-302 , 2023

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

12

Bi-allelic variants in HMGCR cause an autosomal-recessive p..:

Morales-Rosado, Joel A. ; Schwab, Tanya L. ; Macklin-Mantia, Sarah K....
The American Journal of Human Genetics. 110 (2023) 6 - p. 989-997 , 2023

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

13

Electrophysiological Characterization of a MYH7 Variant wit..:

Vial, Felipe ; McGurrin, Patrick ; Osterholt, Thomas...
Movement Disorders Clinical Practice. 10 (2023) 4 - p. 646-651 , 2023

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

14

Biallelic variants in TAMM41 are associated with low muscle..:

Thompson, Kyle ; Bianchi, Lucas ; Rastelli, Francesca...
Human Genetics and Genomics Advances. 3 (2022) 2 - p. 100097 , 2022

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

15

The importance of automation in genetic diagnosis: Lessons ..:

Zampaglione, Erin ; Maher, Matthew ; Place, Emily M....
Genetics in Medicine. 24 (2022) 2 - p. 332-343 , 2022

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