Nicolas Chassaing

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 · 335 citations · Full text

Mechanobiology, Developmental Anomaly, Either Enpp1 +7

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 · 315 citations · Full text

Glomerulonephritis, Urology, Mendelian Disorder +10

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 · 312 citations · Full text

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 · 304 citations · Full text

Baraitser-winter Syndrome, Genetic Disorder, Genetics +6

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood

Stanislas Faguer, Stéphane Decramer, Nicolas Chassaing et al. · Kidney International · 2011 · 211 citations · Full text

Glomerular Disease, Glomerulonephritis, Renal Function +8