Concepedia

Geneviève Pierquin

GP

Statistics

Publications

15

Citations

729

H-Index

14

Active since

1989

Affiliations

University of Liège(Current)

Inserm

Centre Hospitalier Universitaire de Liège

Hôpital Robert-Debré

Assistance Publique – Hôpitaux de Paris

Geneviève Pierquin is an author at University of Liège specializing in genetic disorders, genetics, and life sciences.

Publications per year

1989–2018

15

Publications

15

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Marie Vincent, David Geneviève, Agnès Ostertag et al. · Genetics in Medicine · 2015 · 162 citations

, , +3

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

Anna Genin, Julie Désir, Nelle Lambert et al. · Human Molecular Genetics · 2012 · 116 citations · Full text

, , +17

Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update

Pascaline Létard, Séverine Drunat, Yoann Vial et al. · Human Mutation · 2017 · 70 citations · Full text

, , +17

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype

Elke Botzenhart, Andrew Green, Helena G. Ilyina et al. · Human Mutation · 2005 · 69 citations

, , +13

Autosomal recessive variations of <i><scp>TBX6</scp></i>, from congenital scoliosis to spondylocostal dysostosis

Mathilde Lefebvre, Yannis Duffourd, T. Jouan et al. · Clinical Genetics · 2016 · 52 citations

, , +16

1–5 of 15