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Rehm, Heidi L.
468
results:
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Online (468)
Mediatypes
Articles (Online) (200)
Bookchapter (Online) (3)
OpenAccess-fulltext (265)
Languages
english (434)
german (2)
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1
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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2
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/..
?
3
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/..
?
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 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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7
Correspondence on "Comparison of literature mining tools fo..:
Wei, Chih-Hsuan
;
Phan, Lon
;
Hefferon, Timothy
...
Genetics in Medicine. , 2024
Link:
https://doi.org/10.1016/..
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8
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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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/..
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10
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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11
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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12
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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13
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/..
?
14
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/..
?
15
Genetic testing in early-onset atrial fibrillation:
Kany, Shinwan
;
Jurgens, Sean J
;
Rämö, Joel T
...
European Heart Journal. , 2024
Link:
https://doi.org/10.1093/..
1-15