Jennifer Hague

Statistics

Publications

Citations

448

H-Index

Active since

2016

Affiliations

Cambridge University Hospitals NHS Foundation Trust(Current)

Radboud University Nijmegen

University of Oulu

Inserm

Radboud University Medical Center

Jennifer Hague is an author at Cambridge University Hospitals NHS Foundation Trust specializing in molecular genetics, genetic disorders, and human genetics.

ORCID

Publications per year

2016–2019

Publications

Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia

Rachel Allison, James R. Edgar, Guy Pearson et al. · The Journal of Cell Biology · 2017 · 171 citations · Full text

Life Sciences, Neurology, Neuroscience +17

A mutation update on the LDS-associated genesTGFB2/3andSMAD2/3

Dorien Schepers, Giada Tortora, Hiroko Morisaki et al. · Human Mutation · 2018 · 168 citations · Full text

Medicine, Craniofacial Biology, Molecular Genetics +17

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

Philip J. Ostrowski, Anna Zachariou, Chey Loveday et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2019 · 53 citations

Medicine, Genetics, Molecular Genetics +17

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development

Konrad Platzer, Benjamin Cogné, Jennifer Hague et al. · Annals of Neurology · 2018 · 32 citations

Medicine, Genetics, Molecular Genetics +17

Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman–Sheldon Syndrome caused by a pathogenic MYH3 mutation

Jennifer Hague, Isabelle Delon, Kim Brügger et al. · American Journal of Medical Genetics Part A · 2016 · 14 citations

Life Sciences, Genetics, Molecular Genetics +17

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