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Rehm, Heidi L.
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1

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/..
 
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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/..
 
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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/..
 
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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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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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/..
 
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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/..
 
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P474: Applying the 2022 guidelines for non-coding variant c..:

Groopman, Emily ; Singer-Berk, Moriel ; Whiffin, Nicola...
Genetics in Medicine Open.  1 (2023)  1 - p. 100521 , 2023
Link: https://doi.org/10.1016/..
 
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