I agree that this site is using cookies. You can find further informations here.
X
O'Leary, Melanie
90  results:
Search for persons X
?
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/..
 
?
2

Heterozygous MAP3K20 variants cause ectodermal dysplasia, c..:

Brooks, Daniel ; Burke, Elizabeth ; Lee, Sukyeong...
Human Genetics.  143 (2024)  3 - p. 279-291 , 2024
Link: https://doi.org/10.1007/..
 
?
3

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/..
 
?
4

P575: The Rare Genomes Project: Improving access to genomic..:

Austin-Tse, Christina ; DiTroia, Stephanie ; O'Leary, Melanie...
Genetics in Medicine Open.  2 (2024)  - p. 101481 , 2024
Link: https://doi.org/10.1016/..
 
?
5

Advancing Understanding of Inequities in Rare Disease Genom..:

Serrano, Jillian G. ; O'Leary, Melanie ; VanNoy, Grace E....
Clinical Therapeutics.  45 (2023)  8 - p. 745-753 , 2023
Link: https://doi.org/10.1016/..
 
?
6

The STEM Crisis and Teacher Practice: Exploring Responses t..:

Leonard, Simon N. ; O'Keeffe, Lisa ; White, Bruce..
Education Sciences.  12 (2022)  10 - p. 709 , 2022
Link: https://doi.org/10.3390/..
 
?
7

Variants in Mitochondrial ATP Synthase Cause Variable Neuro..:

Zech, Michael ; Kopajtich, Robert ; Steinbrücker, Katja...
Annals of Neurology.  91 (2022)  2 - p. 225-237 , 2022
Link: https://doi.org/10.1002/..
 
?
8

BiallelicPI4KAvariants cause a novel neurodevelopmental syn..:

Verdura, Edgard ; Rodríguez-Palmero, Agustí ; Vélez-Santamaria, Valentina...
Brain.  144 (2021)  9 - p. 2659-2669 , 2021
Link: https://doi.org/10.1093/..
 
?
9

Loss of function mutation inLOXcauses thoracic aortic aneur..:

Lee, Vivian S. ; Halabi, Carmen M. ; Hoffman, Erin P....
Proceedings of the National Academy of Sciences.  113 (2016)  31 - p. 8759-8764 , 2016
Link: https://doi.org/10.1073/..
 
?
10

Critical assessment of variant prioritization methods for r..:

Stenton, Sarah L. ; O'Leary, Melanie C. ; Lemire, Gabrielle...
Human Genomics.  18 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
?
11

Protein‐extending ACTN2 frameshift variants cause variable ..:

Ranta‐aho, Johanna ; Felice, Kevin J. ; Jonson, Per Harald...
Annals of Clinical and Translational Neurology.  11 (2024)  9 - p. 2392-2405 , 2024
Link: https://doi.org/10.1002/..
 
?
12

Monozygotic twins discordant for neurofibromatosis 1:

Kaplan, Lee ; Foster, Rosemary ; Shen, Yiping...
American Journal of Medical Genetics Part A.  152A (2010)  3 - p. 601-606 , 2010
Link: https://doi.org/10.1002/..
 
?
13

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

Donkervoort, Sandra ; Mohassel, Payam ; OLeary, Melanie...
qt84h8525x.  , 2024
Link: https://escholarship.org..
 
?
14

Critical assessment of variant prioritization methods for r..:

Stenton, Sarah L ; O'Leary, Melanie ; Lemire, Gabrielle...
http://medrxiv.org/lookup/doi/10.1101/2023.08.02.23293212.  , 2023
Link: http://hdl.handle.net/10..
 
?
15

Discovering a new part of the phenotypic spectrum of Coffin..:

van der Sluijs, Pleuntje ; Joosten, Marieke ; Alby, Caroline...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.04.010.  , 2022
Link: https://univ-rennes.hal...
 
1-15