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Wilson, Meredith
400
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1
Narrowing the diagnostic gap: Genomes, episignatures, long-..:
Dias, Kerith-Rae
;
Shrestha, Rupendra
;
Schofield, Deborah
...
Genetics in Medicine. 26 (2024) 5 - p. 101076 , 2024
Link:
https://doi.org/10.1016/..
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2
Germline thymidylate synthase deficiency impacts nucleotide..:
Tummala, Hemanth
;
Walne, Amanda
;
Buccafusca, Roberto
...
The American Journal of Human Genetics. 111 (2024) 7 - p. 1494 , 2024
Link:
https://doi.org/10.1016/..
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3
Integrated multi-omics for rapid rare disease diagnosis on ..:
Lunke, Sebastian
;
Bouffler, Sophie E.
;
Patel, Chirag V.
...
Nature Medicine. 29 (2023) 7 - p. 1681-1691 , 2023
Link:
https://doi.org/10.1038/..
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4
De novo putative loss‐of‐function variants inTAF4are associ..:
Janssen, Beau D. E.
;
van den Boogaard, Marie‐Jose H.
;
Lichtenbelt, Klaske
...
Human Mutation. 43 (2022) 12 - p. 1844-1851 , 2022
Link:
https://doi.org/10.1002/..
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5
Whole exome and genome sequencing in mendelian disorders: a..:
Ewans, Lisa J.
;
Minoche, Andre E.
;
Schofield, Deborah
...
European Journal of Human Genetics. 30 (2022) 10 - p. 1121-1131 , 2022
Link:
https://doi.org/10.1038/..
?
6
Germline thymidylate synthase deficiency impacts nucleotide..:
Tummala, Hemanth
;
Walne, Amanda
;
Buccafusca, Roberto
...
The American Journal of Human Genetics. 109 (2022) 8 - p. 1472-1483 , 2022
Link:
https://doi.org/10.1016/..
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7
Genome sequencing in families with congenital limb malforma..:
Elsner, Jonas
;
Mensah, Martin A.
;
Holtgrewe, Manuel
...
Human Genetics. 140 (2021) 8 - p. 1229-1239 , 2021
Link:
https://doi.org/10.1007/..
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8
The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and C..:
Frith, Katie
;
Munier, C. Mee Ling
;
Hastings, Lucy
...
International Journal of Molecular Sciences. 22 (2021) 10 - p. 5324 , 2021
Link:
https://doi.org/10.3390/..
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9
Learning from scaling up ultra-rapid genomic testing for cr..:
Best, Stephanie
;
Brown, Helen
;
Lunke, Sebastian
...
npj Genomic Medicine. 6 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
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10
Pathogenic variants in CDH11 impair cell adhesion and cause..:
Li, Dong
;
March, Michael E.
;
Fortugno, Paola
...
Human Genetics. 140 (2021) 7 - p. 1061-1076 , 2021
Link:
https://doi.org/10.1007/..
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11
A novel RLIM/RNF12 variant disrupts protein stability and f..:
Bustos, Francisco
;
Espejo-Serrano, Carmen
;
Segarra-Fas, Anna
...
Scientific Reports. 11 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
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12
Activating variants in PDGFRB result in a spectrum of disor..:
Wenger, Tara L.
;
Bly, Randall A.
;
Wu, Natalie
...
American Journal of Medical Genetics Part A. 182 (2020) 7 - p. 1576-1591 , 2020
Link:
https://doi.org/10.1002/..
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13
Gene selection for the Australian Reproductive Genetic Carr..:
Kirk, Edwin P.
;
Ong, Royston
;
Boggs, Kirsten
...
European Journal of Human Genetics. 29 (2020) 1 - p. 79-87 , 2020
Link:
https://doi.org/10.1038/..
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14
Revealing hidden genetic diagnoses in the ocular anterior s..:
Ma, Alan
;
Yousoof, Saira
;
Grigg, John R.
...
Genetics in Medicine. 22 (2020) 10 - p. 1623-1632 , 2020
Link:
https://doi.org/10.1038/..
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15
Parental experiences of ultrarapid genomic testing for thei..:
Brett, Gemma R.
;
Martyn, Melissa
;
Lynch, Fiona
...
Genetics in Medicine. 22 (2020) 12 - p. 1976-1985 , 2020
Link:
https://doi.org/10.1038/..
1-15