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Stenton, Sarah L.
67  results:
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1

De novo variants in the RNU4-2 snRNA cause a frequent neuro..:

Chen, Yuyang ; Dawes, Ruebena ; Kim, Hyung Chul...
Nature.  , 2024
Link: https://doi.org/10.1038/..
 
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2

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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3

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/..
 
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4

Dystonia and mitochondrial disease: the movement disorder c..:

Indelicato, Elisabetta ; Schlieben, Lea D. ; Stenton, Sarah L....
Journal of Neurology.  271 (2024)  7 - p. 4685-4692 , 2024
Link: https://doi.org/10.1007/..
 
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5

Digenic inheritance involving a muscle-specific protein kin..:

Töpf, Ana ; Cox, Dan ; Zaharieva, Irina T....
Nature Genetics.  56 (2024)  3 - p. 395-407 , 2024
Link: https://doi.org/10.1038/..
 
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6

Digenic Leigh syndrome on the background of the m.11778G>A ..:

Blickhäuser, Beryll ; Stenton, Sarah L ; Neuhofer, Christiane M...
Brain.  147 (2024)  6 - p. 1967-1974 , 2024
Link: https://doi.org/10.1093/..
 
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7

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/..
 
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8

First-tier next-generation sequencing for newborn screening..:

Stenton, Sarah L. ; Campagna, Madelynn ; Philippakis, Anthony..
Genetics in Medicine Open.  1 (2023)  1 - p. 100821 , 2023
Link: https://doi.org/10.1016/..
 
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9

Inferring compound heterozygosity from large-scale exome se..:

Guo, Michael H. ; Francioli, Laurent C. ; Stenton, Sarah L....
Nature Genetics.  56 (2023)  1 - p. 152-161 , 2023
Link: https://doi.org/10.1038/..
 
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10

DNAJC30 defect: a frequent cause of recessive Leber heredit..:

Stenton, Sarah L. ; Tesarova, Marketa ; Sheremet, Natalia L....
Brain.  145 (2022)  5 - p. 1624-1631 , 2022
Link: https://doi.org/10.1093/..
 
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11

Genomic Approaches for the Diagnosis of Inborn Errors of Me..:

, In: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases,
Stenton, Sarah L. ; Mayr, Johannes A. ; Wortmann, Saskia B.. - p. 147-162 , 2022
Link: https://doi.org/10.1007/..
 
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12

Variation of the clinical spectrum and genotype-phenotype a..:

Drovandi, Stefania ; Lipska-Ziętkiewicz, Beata S. ; Ozaltin, Fatih...
Kidney International.  102 (2022)  3 - p. 592-603 , 2022
Link: https://doi.org/10.1016/..
 
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13

The phenotypic spectrum ofCOX20-associated mitochondrial di..:

Ban, Rui ; Kopajtich, Robert ; Lv, Junlan...
Brain.  145 (2022)  12 - p. e125-e127 , 2022
Link: https://doi.org/10.1093/..
 
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14

Oral Coenzyme Q10 supplementation leads to better preservat..:

Drovandi, Stefania ; Lipska-Ziętkiewicz, Beata S. ; Ozaltin, Fatih...
Kidney International.  102 (2022)  3 - p. 604-612 , 2022
Link: https://doi.org/10.1016/..
 
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15

Leigh Syndrome: A Study of 209 Patients at the Beijing Chil..:

Stenton, Sarah L. ; Zou, Ying ; Cheng, Hua...
Annals of Neurology.  91 (2022)  4 - p. 466-482 , 2022
Link: https://doi.org/10.1002/..
 
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