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O'Donnell-Luria, Anne H
147
results:
Search for persons
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Online (147)
Mediatypes
Articles (Online) (77)
Bookchapter (Online) (1)
OpenAccess-fulltext (69)
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1
Assessment of the evidence yield for the calibrated PP3/BP4..:
Stenton, Sarah L.
;
Pejaver, Vikas
;
Bergquist, Timothy
...
Genetics in Medicine. , 2024
Link:
https://doi.org/10.1016/..
?
2
Improving transparency of computational tools for variant e..:
Karchin, Rachel
;
Radivojac, Predrag
;
O'Donnell-Luria, Anne
...
Nature Genetics. 56 (2024) 7 - p. 1324-1326 , 2024
Link:
https://doi.org/10.1038/..
?
3
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/..
?
4
De novo TLK1 and MDM1 mutations in a patient with a neurode..:
Villamor-Payà, Marina
;
Sanchiz-Calvo, María
;
Smak, Jordann
...
iScience. 27 (2024) 6 - p. 109984 , 2024
Link:
https://doi.org/10.1016/..
?
5
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/..
?
6
P595: The ClinGen Syndromic Disorders Gene Curation Expert ..:
O'Donnell-Luria, Anne
;
Broeren, Ellie
;
Coffey, Alison
.
Genetics in Medicine Open. 2 (2024) - p. 101501 , 2024
Link:
https://doi.org/10.1016/..
?
7
Growth deficiency in a mouse model of Kabuki syndrome 2 bea..:
Gao, Christine W.
;
Lin, WanYing
;
Riddle, Ryan C.
...
PLOS Genetics. 20 (2024) 6 - p. e1011310 , 2024
Link:
https://doi.org/10.1371/..
?
8
P240: Back to basics: Diagnosis of Lesch-Nyhan syndrome in ..:
Biddle, Joseph
;
Campbell, Teresa
;
Sanchis-Juan, Alba
...
Genetics in Medicine Open. 2 (2024) - p. 101136 , 2024
Link:
https://doi.org/10.1016/..
?
9
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/..
?
10
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/..
?
11
P713: Estimating the prevalence of de novo monogenic disord..:
Amin, Mutaz
;
Baxter, Samantha
;
Samocha, Kaitlin
.
Genetics in Medicine Open. 2 (2024) - p. 101617 , 2024
Link:
https://doi.org/10.1016/..
?
12
Rare penetrant mutations confer severe risk of common disea..:
Fiziev, Petko P.
;
McRae, Jeremy
;
Ulirsch, Jacob C.
...
Science. 380 (2023) 6648 - p. , 2023
Link:
https://doi.org/10.1126/..
?
13
Advanced variant classification framework reduces the false..:
Singer-Berk, Moriel
;
Gudmundsson, Sanna
;
Baxter, Samantha
...
The American Journal of Human Genetics. 110 (2023) 9 - p. 1496-1508 , 2023
Link:
https://doi.org/10.1016/..
?
14
Mapping genetic effects on cell type-specific chromatin acc..:
Benaglio, Paola
;
Newsome, Jacklyn
;
Han, Jee Yun
...
PLOS Genetics. 19 (2023) 6 - p. e1010759 , 2023
Link:
https://doi.org/10.1371/..
?
15
Using the ACMG/AMP framework to capture evidence related to..:
Walker, Logan C.
;
Hoya, Miguel de la
;
Wiggins, George A.R.
...
The American Journal of Human Genetics. 110 (2023) 7 - p. 1046-1067 , 2023
Link:
https://doi.org/10.1016/..
1-15