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O'Donnell-Luria, Anne H
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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