Concepedia

Irene A. Aligianis

IA

Statistics

Publications

16

Citations

1.8K

H-Index

16

Active since

2002

Affiliations

Birmingham Women's Hospital(Current)

Institute of Genetics and Cancer

University of Birmingham

University of Edinburgh

University College London

Irene A. Aligianis is an author at Birmingham Women's Hospital specializing in genetics, genetic disorders, and life sciences.

Publications per year

2002–2019

16

Publications

16

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat

Ursula M. Smith, Mark Consugar, Louise Tee et al. · Nature Genetics · 2006 · 292 citations

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Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Irene A. Aligianis, Colin A. Johnson, Paul Gissen et al. · Nature Genetics · 2005 · 226 citations

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Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

Danai Bem, Shin‐ichiro Yoshimura, Ricardo Bastos et al. · The American Journal of Human Genetics · 2011 · 175 citations · Full text

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Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

Neil V. Morgan, Louise Brueton, P. Cox et al. · The American Journal of Human Genetics · 2006 · 165 citations · Full text

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Rab18 and a Rab18 GEF complex are required for normal ER structure

Andreas Gerondopoulos, Ricardo Bastos, Shin‐ichiro Yoshimura et al. · The Journal of Cell Biology · 2014 · 145 citations · Full text

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