Matt Hurles
Aston University(GB)Wellcome Sanger Institute(GB)
Publications by Year
Research Areas
Genetic Associations and Epidemiology, Liver Disease Diagnosis and Treatment, Genomics and Rare Diseases, Muscle Physiology and Disorders, Genetic and Kidney Cyst Diseases
Most-Cited Works
- → Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport(2016)259 cited
- → An organelle-specific protein landscape identifies novel diseases and molecular mechanisms(2016)255 cited
- → X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3(2017)151 cited
- → Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy(2012)106 cited
- → ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies(2013)105 cited
- → Deciphering the Mechanisms of Developmental Disorders (DMDD): a new programme for phenotyping embryonic lethal mice(2013)86 cited
- → TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport(2015)81 cited
- → Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures(2013)53 cited
- → Genetic basis of early onset and progression of type 2 diabetes in South Asians(2024)31 cited
- → Genetic architecture of routinely acquired blood tests in a British South Asian cohort(2024)18 cited