Concepedia

Gabriela Jones

GJ

Statistics

Publications

8

Citations

240

H-Index

8

Active since

2013

Affiliations

Nottingham University Hospitals NHS Trust(Current)

University Hospitals of Leicester NHS Trust

University of Liverpool

University Hospital Bonn

University of Nottingham

Gabriela Jones is an author at Nottingham University Hospitals NHS Trust specializing in life sciences, genetics, and human genetics.

ORCID

Publications per year

2013–2023

8

Publications

8

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 · 93 citations · Full text

, , +12

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 · 52 citations · Full text

, , +13

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 · 23 citations · Full text

, , +13

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 · 22 citations

, , +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 · 18 citations · Full text

, , +17

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