Expanding the Allelic Heterogeneity of

Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Feb 2023
Historique:
received: 02 06 2022
accepted: 15 11 2022
entrez: 26 1 2023
pubmed: 27 1 2023
medline: 27 1 2023
Statut: epublish

Résumé

The term autosomal recessive cerebellar ataxia (ARCA) encompasses a diverse group of heterogeneous degenerative disorders of the cerebellum. Spinocerebellar ataxia autosomal recessive 10 (SCAR10) is a distinct classification of cerebellar ataxia caused by variants in the We presented 4 patients from 4 families diagnosed with spinocerebellar ataxia with potential pathogenic variants in the One individual who presented clinically at a much earlier age than typical was homozygous for an We presented rare pathogenic variants adding to the growing list of

Sections du résumé

Background and Objectives UNASSIGNED
The term autosomal recessive cerebellar ataxia (ARCA) encompasses a diverse group of heterogeneous degenerative disorders of the cerebellum. Spinocerebellar ataxia autosomal recessive 10 (SCAR10) is a distinct classification of cerebellar ataxia caused by variants in the
Methods UNASSIGNED
We presented 4 patients from 4 families diagnosed with spinocerebellar ataxia with potential pathogenic variants in the
Results UNASSIGNED
One individual who presented clinically at a much earlier age than typical was homozygous for an
Discussion UNASSIGNED
We presented rare pathogenic variants adding to the growing list of

Identifiants

DOI: 10.1212/NXG.0000000000200051 PMID: 36698452 PMC: PMC9872716
pubmed: 36698452
doi: 10.1212/NXG.0000000000200051
pii: NXG-2022-200054
pmc: PMC9872716
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e200051

Commentaires et corrections

Type : ErratumIn

Informations de copyright

Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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Auteurs

Sean Massey (S)

Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.
ORCID: 0000-0002-0759-9306

Yiran Guo (Y)

Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.

Lisa G Riley (LG)

Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.

Nicole J Van Bergen (NJ)

Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.

Sarah A Sandaradura (SA)

Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.

Elizabeth McCusker (E)

Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.

Michel Tchan (M)

Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.
ORCID: 0000-0001-9700-7898

Christel Thauvin-Robinet (C)

Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.

Quentin Thomas (Q)

Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.
ORCID: 0000-0003-1185-1663

Thibault Moreau (T)

Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.

Mark Davis (M)

Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.

Daphne Smits (D)

Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.

Grazia M S Mancini (GMS)

Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.

Hakon Hakonarson (H)

Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.

Sandra Cooper (S)

Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.

John Christodoulou (J)

Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.
ORCID: 0000-0002-8431-0641

Classifications MeSH