Wei Wei

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Germline selection shapes human mitochondrial DNA diversity

David L. Bennett, Kenneth G. C. Smith, Katherine R. Smith, 2019, Science.

Title : Germline selection shapes the landscape of human mitochondrial DNA

Kenneth G. C. Smith, Katherine R. Smith, K. Stirrups, 2019 .

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

High prevalence of focal and multi-focal somatic genetic variants in the human brain

S. Luo, C. Haudenschild, J. Attems, 2018, Nature Communications.

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

Response to Simon et al.,

M. Keogh, P. Chinnery, J. Ironside, 2017, Acta neuropathologica communications.

Frequency and signature of somatic variants in 1461 human brain exomes

J. Attems, C. Troakes, Colin Smith, 2018, Genetics in Medicine.

Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes

M. Caulfield, P. Chinnery, G. Elgar, 2022, Nature.

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

A. Need, A. Pagnamenta, M. Caulfield, 2020, Nature Communications.

The human mitochondrial genome contains a second light strand promoter.

M. Minczuk, P. Chinnery, C. Gustafsson, 2022, Molecular cell.

Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains

J. Attems, C. Troakes, Colin Smith, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank

S. Karthikeyan, J. Howson, P. Chinnery, 2021, Nature Genetics.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

James W Ironside, Olaf Ansorge, Patrick F Chinnery, 2017, Genome research.

Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos

M. Surani, S. Dietmann, A. Capalbo, 2018, Nature Cell Biology.

Cell reprogramming shapes the mitochondrial DNA landscape

Daniel J. Gaffney, D. Gaffney, P. Chinnery, 2021, Nature Communications.

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

A. Need, A. Pagnamenta, C. Tregidgo, 2020, Nature Communications.

Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations

P. Chinnery, G. Hudson, A. Gomez-Duran, 2017, PLoS genetics.

Biparental inheritance of mitochondrial DNA revisited

A. Pagnamenta, P. Chinnery, Wei Wei, 2021, Nature Reviews Genetics.

High prevalence of focal and multi-focal somatic genetic variants in the human brain

S. Luo, J. Attems, N. Jones, 2018, Nature Communications.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

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

M. Caulfield, P. Chinnery, R. Horvath, 2021, BMJ.

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

V. Mootha, S. Pearce, C. Powell, 2020, medRxiv.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Cracking the enigma of mitochondrial-DNA variants and cancer

P. Chinnery, Wei Wei, 2020, Nature metabolism.

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

J. Attems, C. Morris, C. Troakes, 2017, Acta neuropathologica communications.

Amyloid-β accumulation in the CNS in human growth hormone recipients in the UK

Rosemary J. Jackson, M. Keogh, P. Chinnery, 2017, Acta Neuropathologica.

Oxygen tension modulates the mitochondrial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro

F. Klimm, P. Chinnery, J. Prudent, 2021, Communications biology.

Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

J. Attems, C. Morris, C. Troakes, 2017, Acta neuropathologica communications.

Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review

B. Gui, Wei Wei, Chunrong Gui, 2023, Frontiers in Pediatrics.

MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases

P. Chinnery, R. Horvath, D. Greene, 2021, Nucleic acids research.

Mitochondrial DNA heteroplasmy is modulated during oocyte development propagating mutation transmission

F. Klimm, N. Jones, P. Chinnery, 2021, Science advances.

Edinburgh Research Explorer Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

J. Attems, C. Morris, C. Troakes, 2022 .

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

J. Attems, C. Troakes, S. Rollinson, 2017, Genome research.

Oxygen tension modulates the mitochondrial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro

F. Klimm, P. Chinnery, J. Prudent, 2021, Communications Biology.

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

C. Troakes, S. Rollinson, M. Keogh, 2017, Acta Neuropathologica Communications.