E-LIB Suche - Ergebnisse für: Taft, Ryan

1

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/..

2

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/..

3

P636: Lp(a) genetic risk screening using genome sequencing:

Strom, Samuel ; Amendola, Laura ; Chawla, Aditi...
Genetics in Medicine Open. 2 (2024) - p. 101542 , 2024

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

4

Autosomal recessive BLOC1S1 variants cause a hypomyelinatin..:

Gonzalez, Carlos Dominguez ; Sanderson, Leslie E. ; Depace, Raffaella...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108328 , 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

Advancing access to genome sequencing for rare genetic diso..:

Jobanputra, Vaidehi ; Schroeder, Brock ; Rehm, Heidi L....
npj Genomic Medicine. 9 (2024) 1 - p. , 2024

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

7

P213: Exploring heterogeneity among gene lists proposed for..:

Minten, Thomas ; Adelson, Sophia ; Amendola, Laura...
Genetics in Medicine Open. 2 (2024) - p. 101110 , 2024

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

8

Evidence review and considerations for use of first line ge..:

Wigby, Kristen M. ; Brockman, Deanna ; Costain, Gregory...
npj Genomic Medicine. 9 (2024) 1 - p. , 2024

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

9

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/..

10

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/..

11

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/..

12

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/..

13

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/..

14

The smallest likely pathogenic duplication of a SOX9 enhanc..:

Sajan, Samin A. ; Brown, Carolyn M. ; Davis‐Keppen, Laura...
American Journal of Medical Genetics Part A. 191 (2023) 12 - p. 2831-2836 , 2023

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

15

P507: Implementation of automated pharmacogenomics reportin..:

Malhotra, Alka ; Hejja, Rueben ; Avecilla, James...
Genetics in Medicine Open. 1 (2023) 1 - p. 100554 , 2023

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