E-LIB Suche - Ergebnisse für: Rehm, Heidi L

1

P155: The ClinGen framework for naming monogenic diseases*:

Thaxton, Courtney ; Biesecker, Leslie ; DiStefano, Marina...
Genetics in Medicine Open. 2 (2024) - p. 101052 , 2024

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

2

P138: Evaluating the impact of gnomAD v4 on genetic prevale..:

Baxter, Samantha ; Singer-Berk, Moriel ; Russell, Kathryn...
Genetics in Medicine Open. 2 (2024) - p. 101035 , 2024

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

3

Heterozygous MAP3K20 variants cause ectodermal dysplasia, c..:

Brooks, Daniel ; Burke, Elizabeth ; Lee, Sukyeong...
Human Genetics. 143 (2024) 3 - p. 279-291 , 2024

Link: https://doi.org/10.1007/..

4

Toward robust clinical genome interpretation: Developing a ..:

Roberts, Angharad M. ; DiStefano, Marina T. ; Riggs, Erin Rooney...
Genetics in Medicine. 26 (2024) 2 - p. 101029 , 2024

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

5

P712: A novel framework for use of the PP1/BS4 co-segregati..:

Biesecker, Leslie ; Byrne, Alicia ; Harrison, Steven...
Genetics in Medicine Open. 2 (2024) - p. 101616 , 2024

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

6

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/..

7

Will variants of uncertain significance still exist in 2030:

Fowler, Douglas M. ; Rehm, Heidi L.
The American Journal of Human Genetics. 111 (2024) 1 - p. 5-10 , 2024

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

8

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/..

9

Genomic data in the All of Us Research Program:

The All of Us Research Program Genomics Investigators ; Bick, Alexander G. ; Metcalf, Ginger A....
Nature. 627 (2024) 8003 - p. 340-346 , 2024

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

10

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/..

11

ClinGen guidance for use of the PP1/BS4 co-segregation and ..:

Biesecker, Leslie G. ; Byrne, Alicia B. ; Harrison, Steven M....
The American Journal of Human Genetics. 111 (2024) 1 - p. 24-38 , 2024

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

12

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/..

13

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/..

14

A gene pathogenicity tool "GenePy" identifies missed bialle..:

Seaby, Eleanor G. ; Leggatt, Gary ; Cheng, Guo...
Genetics in Medicine. 26 (2024) 4 - p. 101073 , 2024

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

15

P114: Use of population data to empower patient organizatio..:

Baxter, Samantha ; Singer-Berk, Moriel ; Russell, Kathryn...
Genetics in Medicine Open. 1 (2023) 1 - p. 100143 , 2023

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