Joseph S. Leslie

Biallelic <i>PI4KA</i> variants cause neurological, intestinal and immunological disease

Claire Salter, Yiying Cai, Bernice Lo et al. · Brain · 2021 · 44 citations · Full text

MNS1 variant associated with situs inversus and male infertility

Joseph S. Leslie, Lettie E. Rawlins, Barry A. Chioza et al. · European Journal of Human Genetics · 2019 · 36 citations · Full text

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

Luis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian et al. · Brain · 2022 · 35 citations · Full text

Genetics, Molecular Biology, Molecular Genetics +16

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)

Siying Lin, Aída Sánchez‐Bretaño, Joseph S. Leslie et al. · npj Genomic Medicine · 2022 · 22 citations · Full text

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice

Lettie E. Rawlins, Hashem Almousa, Shazia Khan et al. · PLoS Genetics · 2022 · 21 citations · Full text