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O'Donnell‐Luria, Anne
170
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Online (170)
Mediatypes
Articles (Online) (81)
OpenAccess-fulltext (89)
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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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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..
1-15