Hayley Goullée

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor

Ariana Kariminejad, Martin Dahl-Halvarsson, Gianina Ravenscroft et al. · Brain · 2017 · 48 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Bi-allelic mutations in MYL1 cause a severe congenital myopathy

Gianina Ravenscroft, Irina Zaharieva, Carlo Augusto Bortolotti et al. · Human Molecular Genetics · 2018 · 48 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction

Richard G. Lee, Maryam Sedghi, Mehri Salari et al. · Neurology Genetics · 2018 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3

Daniel P. S. Osborn, Leila Emrahi, Joshua S. Clayton et al. · Genetics in Medicine · 2020 · 36 citations · Full text

Medicine, Cardiology, Genetics +15

A homozygous <i>UBA5</i> pathogenic variant causes a fatal congenital neuropathy

Macarena Cabrera‐Serrano, David Coote, Dimitar N. Azmanov et al. · Journal of Medical Genetics · 2020 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14