Concepedia

Nicolas Chassaing

NC

Statistics

Publications

81

Citations

5.3K

H-Index

40

Active since

2003

Affiliations

Hôpital Purpan(Current)

Inserm

Université Toulouse III - Paul Sabatier

Université Fédérale de Toulouse Midi-Pyrénées

Assistance Publique – Hôpitaux de Paris

Nicolas Chassaing is an author at Hôpital Purpan specializing in genetics, molecular genetics, and human genetics.

ORCID

Publications per year

2003–2023

81

Publications

81

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen et al. · The American Journal of Human Genetics · 2011 · 343 citations · Full text

, , +13

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Sibel Kantarci, Lihadh Al‐Gazali, R. Sean Hill et al. · Nature Genetics · 2007 · 319 citations · Full text

, , +6

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

Céline Cluzeau, S. Hadj‐Rabia, Marguerite Jambou et al. · Human Mutation · 2010 · 316 citations

, , +15

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen et al. · Nature Genetics · 2012 · 306 citations · Full text

, , +9

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood

Stanislas Faguer, Stéphane Decramer, Nicolas Chassaing et al. · Kidney International · 2011 · 217 citations · Full text

, , +12

1–5 of 81