Paper Details

Paper Title

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Paper Journal Title

BMJ

Paper Citation Count

Paper Publication Year

2021

Bio Mention

Mesh Descriptor

Author Name	Affiliation
Rita Horvath	School of Clinical Medicine, University of Cambridge
Wei Wei	School of Clinical Medicine, University of Cambridge
Wei Wei	Medical Research Council Mitochondrial Biology Unit, University of Cambridge
Kristina Iba??ez	William Harvey Research Institute, Queen Mary University of London
Thiloka Ratnaike	School of Clinical Medicine, University of Cambridge
Thiloka Ratnaike	Medical Research Council Mitochondrial Biology Unit, University of Cambridge
Thiloka Ratnaike	University of Cambridge
Ros Quinlivan	UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery
John A Sayer	Translational and Clinical Research Institute, Newcastle University
Dragana Josifova	Guy's and St Thomas' NHS Foundation Trust
Louise Izatt	Guy's and St Thomas' NHS Foundation Trust
Charu Deshpande	Guy's and St Thomas' NHS Foundation Trust
Charu Deshpande	St Mary's Hospital
Mark J Caulfield	William Harvey Research Institute, Queen Mary University of London
Mark J Caulfield	William Harvey Research Institute, Queen Mary University of London
Henry Houlden	UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery
Henry Houlden	Neurology and Mitochondrial Disorders Genomics Clinical Interpretation Partnership, William Harvey Research Institute, Queen Mary University of London
Shamima Rahman	Neurology and Mitochondrial Disorders Genomics Clinical Interpretation Partnership, William Harvey Research Institute, Queen Mary University of London
Shamima Rahman	Great Ormond Street Hospital for Children NHS Foundation Trust
Shamima Rahman	UCL Great Ormond Street Institute of Child Health
Patrick F Chinnery	School of Clinical Medicine, University of Cambridge
Patrick F Chinnery	Medical Research Council Mitochondrial Biology Unit, University of Cambridge
Patrick F Chinnery	Neurology and Mitochondrial Disorders Genomics Clinical Interpretation Partnership, William Harvey Research Institute, Queen Mary University of London

1 - 23

Dataset	Description	Source Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link

1 - 15

Paper Details

Column Actions

Datasets