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O'Donnell‐Luria, Anne
212  results:
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1

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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2

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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3

Classical phenylketonuria presenting as maternal PKU syndro..:

Alghamdi, Malak Ali ; O'Donnell‐Luria, Anne ; Almontashiri, Naif A....
JIMD Reports.  64 (2023)  5 - p. 312-316 , 2023
Link: https://doi.org/10.1002/..
 
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4

Diagnostic capabilities of nanopore long‐read sequencing in..:

Bruels, Christine C. ; Littel, Hannah R. ; Daugherty, Audrey L....
Annals of Clinical and Translational Neurology.  9 (2022)  8 - p. 1302-1309 , 2022
Link: https://doi.org/10.1002/..
 
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5

Wide range of phenotypic severity in individuals with late ..:

Keehan, Laura ; Haviland, Isabel ; Gofin, Yoel...
American Journal of Medical Genetics Part A.  188 (2022)  12 - p. 3516-3524 , 2022
Link: https://doi.org/10.1002/..
 
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6

seqr: A web‐based analysis and collaboration tool for rare ..:

Pais, Lynn S. ; Snow, Hana ; Weisburd, Ben...
Human Mutation.  , 2022
Link: https://doi.org/10.1002/..
 
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7

Recessive variants inCOL25A1gene as novel cause of arthrogr..:

Natera‐de Benito, Daniel ; Jurgens, Julie A. ; Yeung, Alison...
Human Mutation.  43 (2022)  4 - p. 487-498 , 2022
Link: https://doi.org/10.1002/..
 
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8

Delineation of a novel neurodevelopmental syndrome associat..:

Gofin, Yoel ; Wang, Tianyun ; Gillentine, Madelyn A....
Human Mutation.  43 (2022)  4 - p. 461-470 , 2022
Link: https://doi.org/10.1002/..
 
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9

Mendelian etiologies identified with whole exome sequencing..:

Chopra, Maya ; Gable, Dustin L. ; Love‐Nichols, Jamie...
Annals of Clinical and Translational Neurology.  9 (2022)  2 - p. 193-205 , 2022
Link: https://doi.org/10.1002/..
 
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10

Variant interpretation using population databases: Lessons ..:

Gudmundsson, Sanna ; Singer‐Berk, Moriel ; Watts, Nicholas A....
Human Mutation.  43 (2021)  8 - p. 1012-1030 , 2021
Link: https://doi.org/10.1002/..
 
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11

Alternative genomic diagnoses for individuals with a clinic..:

Dyment, David A. ; O'Donnell‐Luria, Anne ; Agrawal, Pankaj B....
American Journal of Medical Genetics Part A.  185 (2020)  1 - p. 119-133 , 2020
Link: https://doi.org/10.1002/..
 
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12

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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13

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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14

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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15

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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