E-LIB Suche - Ergebnisse für: Thorpe, Erin

1

A Novel Variant in SQSTM1 Gene Causing Neurodegeneration wi..:

Chacaltana‐Vinas, Cesar ; Ramirez‐Pajares, Patricia ; Manrique‐Palomino, Alid...
Movement Disorders Clinical Practice. 11 (2024) 6 - p. 746-748 , 2024

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

2

The impact of clinical genome sequencing in a global popula..:

Thorpe, Erin ; Williams, Taylor ; Shaw, Chad...
The American Journal of Human Genetics. 111 (2024) 7 - p. 1271-1281 , 2024

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

3

A framework for the evaluation and reporting of incidental ..:

Brown, Carolyn M. ; Amendola, Laura M. ; Chandrasekhar, Anjana...
European Journal of Human Genetics. 32 (2024) 6 - p. 665-672 , 2024

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

4

P368: Novel mutation in ZIC3 in a Peruvian family with vari..:

Chávez-Pasco, Giulliana ; Bazalar-Montoya, Jeny ; Suarez, Cecilia Bonilla...
Genetics in Medicine Open. 2 (2024) - p. 101262 , 2024

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

5

P624: Performance and impact of clinical genome sequencing ..:

Thorpe, Erin ; Duenas-Roque, Milagros ; Cornejo-Olivas, Mario...
Genetics in Medicine Open. 2 (2024) - p. 101530 , 2024

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

6

P412: A heterozygous 287 kb deletion of the X chromosome in..:

Bazalar-Montoya, Jeny ; Rodriguez, Richard ; Chávez-Pasco, Giulliana...
Genetics in Medicine Open. 2 (2024) - p. 101306 , 2024

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

7

P572: Detecting short tandem repeat expansions: Three-year ..:

Thomas, Brittany ; Kesari, Akanchha ; Lumaka, Aime...
Genetics in Medicine Open. 1 (2023) 1 - p. 100619 , 2023

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

8

O38: The impact of whole genome sequencing in a diverse glo..:

Taft, Ryan ; Thorpe, Erin ; Belmont, John...
Genetics in Medicine Open. 1 (2023) 1 - p. 100464 , 2023

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

9

Reactive gene curation to support interpretation and report..:

Clause, Amanda R. ; Taylor, Julie P. ; Rajkumar, Revathi...
Cell Genomics. 3 (2023) 2 - p. 100258 , 2023

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

10

Genome sequencing detects a balanced pericentric inversion ..:

Chandrasekhar, Anjana ; Mroczkowski, Henry J. ; Urraca, Nora...
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023

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

11

Wide range of phenotypic severity in individuals with late ..:

Keehan, Laura ; Haviland, Isabel ; Gofin, Yoel...
American Journal of Medical Genetics Part A. 188 (2022) 12 - p. 3516-3524 , 2022

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

12

A framework designed to improve the evaluation and reportin..:

Brown, Carolyn ; Chandrasekhar, Anjana ; Coffey, Alison...
Molecular Genetics and Metabolism. 132 (2021) - p. S218-S219 , 2021

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

13

X-linked neonatal-onset epileptic encephalopathy associated..:

Sun, Jia-Hui ; Chen, Jiang ; Ayala Valenzuela, Fernando Eduardo...
PLOS Genetics. 17 (2021) 6 - p. e1009608 , 2021

Link: https://doi.org/10.1371/..

14

Multiple molecular diagnoses in individual patients identif..:

Malhotra, Alka ; Thorpe, Erin ; Ortega, Julia...
Molecular Genetics and Metabolism. 132 (2021) - p. S153 , 2021

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

15

Copy-number variants in clinical genome sequencing: deploym..:

Gross, Andrew M. ; Ajay, Subramanian S. ; Rajan, Vani...
Genetics in Medicine. 21 (2019) 5 - p. 1121-1130 , 2019

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