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O'Donnell‐Luria, Anne
170  results:
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1

Genome and RNA sequencing boost neuromuscular diagnoses to ..:

Marchant, Rhett G. ; Bryen, Samantha J. ; Bahlo, Melanie...
Annals of Clinical and Translational Neurology.  11 (2024)  5 - p. 1250-1266 , 2024
Link: https://doi.org/10.1002/..
 
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2

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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3

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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4

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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5

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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6

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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7

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a r..:

Donkervoort, Sandra ; Mohassel, Payam ; O'Leary, Melanie...
Annals of Clinical and Translational Neurology.  11 (2024)  3 - p. 629-640 , 2024
Link: https://doi.org/10.1002/..
 
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8

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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9

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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10

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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11

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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12

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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13

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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14

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N.W ; Shimamura, Akiko...
https://research-information.bris.ac.uk/en/publications/713298c0-e36f-4664-9063-8406743f3374.  , 2024
Link: https://hdl.handle.net/1..
 
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15

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N W ; Shimamura, Akiko...
https://research.manchester.ac.uk/en/publications/15887bad-c921-4439-8afb-db4a9d6b7c42.  , 2024
Link: https://research.manches..
 
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