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Fratter, Carl
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1

The impact of inversions across 33,924 families with rare d..:

Pagnamenta, Alistair T. ; Yu, Jing ; Walker, Susan...
The American Journal of Human Genetics.  111 (2024)  6 - p. 1140-1164 , 2024
Link: https://doi.org/10.1016/..
 
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2

Nucleoside supplements as treatments for mitochondrial DNA ..:

Dombi, Eszter ; Marinaki, Tony ; Spingardi, Paolo...
Frontiers in Cell and Developmental Biology.  12 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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3

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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4

Genetic testing for mitochondrial disease: the United Kingd..:

Mavraki, Eleni ; Labrum, Robyn ; Sergeant, Kate...
European Journal of Human Genetics.  31 (2022)  2 - p. 148-163 , 2022
Link: https://doi.org/10.1038/..
 
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5

OMA1 mediates local and global stress responses against pro..:

Shammas, Mario K. ; Huang, Xiaoping ; Wu, Beverly P....
Journal of Clinical Investigation.  132 (2022)  14 - p. , 2022
Link: https://doi.org/10.1172/..
 
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6

Rare missense variants in Tropomyosin‐4 (TPM4) are associat..:

Stapley, Rachel J. ; Poulter, Natalie S. ; Khan, Abdullah O....
Journal of Thrombosis and Haemostasis.  20 (2022)  2 - p. 478-485 , 2022
Link: https://doi.org/10.1111/..
 
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7

Use of whole genome sequencing to determine genetic basis o..:

Schon, Katherine R ; Horvath, Rita ; Wei, Wei...
BMJ.  , 2021
Link: https://doi.org/10.1136/..
 
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8

EMQN best practice guidelines for genetic testing in dystro..:

Fratter, Carl ; Dalgleish, Raymond ; Allen, Stephanie K....
European Journal of Human Genetics.  28 (2020)  9 - p. 1141-1159 , 2020
Link: https://doi.org/10.1038/..
 
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9

Pitfalls of relying on genetic testing only to diagnose inh..:

Meldau, Surita ; Fratter, Carl ; Bhengu, Louisa Ntombenhle...
Molecular Genetics and Metabolism Reports.  24 (2020)  - p. 100629 , 2020
Link: https://doi.org/10.1016/..
 
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10

The natural history of infantile mitochondrial DNA depletio..:

Keshavan, Nandaki ; Abdenur, Jose ; Anderson, Glenn...
Genetics in Medicine.  22 (2020)  1 - p. 199-209 , 2020
Link: https://doi.org/10.1038/..
 
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11

Pathogenic variants in MT‐ATP6: A United Kingdom–based mito..:

Ng, Yi Shiau ; Martikainen, Mika H. ; Gorman, Gráinne S....
Annals of Neurology.  86 (2019)  2 - p. 310-315 , 2019
Link: https://doi.org/10.1002/..
 
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12

Correction: The clinical spectrum and natural history of ea..:

Hikmat, Omar ; Tzoulis, Charalampos ; Chong, Wui K....
Genetics in Medicine.  21 (2019)  4 - p. 1027 , 2019
Link: https://doi.org/10.1038/..
 
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13

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-..:

Alston, Charlotte L. ; Heidler, Juliana ; Dibley, Marris G....
The American Journal of Human Genetics.  103 (2018)  4 - p. 592-601 , 2018
Link: https://doi.org/10.1016/..
 
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14

Novel mutation in the RNASEH1 gene in a chronic progressive..:

Sachdev, Anshu ; Fratter, Carl ; McMullan, Tristan F.W.
Canadian Journal of Ophthalmology.  53 (2018)  5 - p. e203-e205 , 2018
Link: https://doi.org/10.1016/..
 
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15

The clinical spectrum and natural history of early-onset di..:

Hikmat, Omar ; Tzoulis, Charalampos ; Chong, Wui K...
Genetics in Medicine.  19 (2017)  11 - p. 1217-1225 , 2017
Link: https://doi.org/10.1038/..
 
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