Jennifer Duff

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

Robert W. Taylor, Angela Pyle, Helen Griffin et al. · JAMA · 2014 · 361 citations · Full text

Exome sequencing in undiagnosed inherited and sporadic ataxias

Angela Pyle, Tania Smertenko, David Bargiela et al. · Brain · 2014 · 138 citations · Full text

Mendelian Disorder, Genetic Disorder, Exome Sequencing +14

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Ana Töpf, Katherine Johnson, Adam Bates et al. · Genetics in Medicine · 2020 · 105 citations · Full text

Homozygous deletion in <i>MICU1</i> presenting with fatigue and lethargy in childhood

David Lewis‐Smith, Kimberli J. Kamer, Helen Griffin et al. · Neurology Genetics · 2016 · 102 citations · Full text

Encephalitis and Death in Wild Mammals at a Rehabilitation Center after Infection with Highly Pathogenic Avian Influenza A(H5N8) Virus, United Kingdom

T. Floyd, Ashley C. Banyard, Fabian Z. X. Lean et al. · Emerging infectious diseases · 2021 · 100 citations · Full text

Vaccination, Mortality Event, Viral Evolution +12