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O'Donnell‐Luria, Anne
89
results:
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1
Novel variants in KAT6B spectrum of disorders expand our kn..:
Yabumoto, Megan
;
Kianmahd, Jessica
;
Singh, Meghna
...
qt9ct9z1sm. , 2021
Link:
https://escholarship.org..
?
2
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..
?
3
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..
?
4
Digenic inheritance involving a muscle-specific protein kin..:
Töpf, Ana
;
Cox, Dan
;
Zaharieva, Irina T
...
https://discovery.ucl.ac.uk/id/eprint/10188621/1/s41588-023-01651-0.pdf. , 2024
Link:
https://discovery.ucl.ac..
?
5
A gene pathogenicity tool 'GenePy' identifies missed bialle..:
Seaby, Eleanor G
;
Leggatt, Gary
;
Cheng, Guo
...
https://eprints.soton.ac.uk/487423/1/1_s2.0_S1098360024000066_main.pdf. , 2024
Link:
https://eprints.soton.ac..
?
6
Heterozygous loss-of-function SMC3 variants are associated ..:
Ansari, Morad
;
Faour, Kamli N. W
;
Shimamura, Akiko
...
10.1016/j.xhgg.2024.100273. , 2024
Link:
https://hdl.handle.net/1..
?
7
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a r..:
Donkervoort, Sandra
;
Mohassel, Payam
;
OLeary, Melanie
...
qt84h8525x. , 2024
Link:
https://escholarship.org..
?
8
Digenic inheritance involving a muscle-specific protein kin..:
Töpf, Ana
;
Cox, Dan
;
Zaharieva, Irina T
...
10.1038/s41588-023-01651-0. , 2024
Link:
http://hdl.handle.net/10..
?
9
Beyond the exome: what's next in diagnostic testing for Men..:
Wojcik, Monica H
;
Reuter, Chloe M
;
Marwaha, Shruti
...
http://arxiv.org/abs/2301.07363. , 2023
Link:
http://arxiv.org/abs/230..
?
10
First-tier next-generation sequencing for newborn screening..:
Sarah L. Stenton
;
Madelynn Campagna
;
Anthony Philippakis
..
http://www.sciencedirect.com/science/article/pii/S2949774423008300. , 2023
Link:
https://doi.org/10.1016/..
?
11
A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Effic..:
Eleanor G. Seaby
;
N. Simon Thomas
;
David Hunt
...
https://www.mdpi.com/2227-9032/11/24/3179. , 2023
Link:
https://doi.org/10.3390/..
?
12
Classical phenylketonuria presenting as maternal PKU syndro..:
Malak Ali Alghamdi
;
Anne O'Donnell‐Luria
;
Naif A. Almontashiri
...
https://doi.org/10.1002/jmd2.12384. , 2023
Link:
https://doi.org/10.1002/..
?
13
P559: Improved classification framework demonstrates many p..:
Moriel Singer-Berk
;
Sanna Gudmundsson
;
Samantha Baxter
...
http://www.sciencedirect.com/science/article/pii/S2949774423006064. , 2023
Link:
https://doi.org/10.1016/..
?
14
P114: Use of population data to empower patient organizatio..:
Samantha Baxter
;
Moriel Singer-Berk
;
Kathryn Russell
...
http://www.sciencedirect.com/science/article/pii/S2949774423001437. , 2023
Link:
https://doi.org/10.1016/..
?
15
P474: Applying the 2022 guidelines for non-coding variant c..:
Emily Groopman
;
Moriel Singer-Berk
;
Nicola Whiffin
...
http://www.sciencedirect.com/science/article/pii/S2949774423005216. , 2023
Link:
https://doi.org/10.1016/..
1-15