Gabriela Jones

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Gabriela Jones, Pia Østergaard, Anthony T. Moore et al. · European Journal of Human Genetics · 2013 · 90 citations · Full text

Genetic Disorder, Kif11 Mutations, Pathology +6

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang et al. · The American Journal of Human Genetics · 2019 · 51 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +10

Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease

Jane I. Grove, Peggy Lo, Nick Shrine et al. · JHEP Reports · 2023 · 21 citations · Full text

Metabolic Syndrome, Metabolic Associated Steatohepatitis, Rare Mttp Variant +11

Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome

Gabriela Jones, Katie Johnson, Jacqueline Eason et al. · European Journal of Medical Genetics · 2022 · 20 citations

Marfan Syndrome, Mendelian Disorder, Genetic Disorder +10

Detailed Analysis of <scp><i>ITPR1</i></scp> Missense Variants Guides Diagnostics and Therapeutic Design

Jussi‐Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon J. McGowan et al. · Movement Disorders · 2023 · 13 citations · Full text