📇 Rhumatologue · BOULOGNE BILLANCOURT · (92) · Libéral

M DAVID SCHAPIRO

Pourquoi vous devez consulter ce praticien

3 raisons identifiées

Praticien-chercheur
17 articles scientifiques publiés — formation continue solide
Disponibilité géographique
4 lieux d'exercice — choisissez celui qui vous arrange
Délais de RDV courts dans la région
136 rhumatos / 100 000 hab. — département bien doté

Rhumatologue

📍 BOULOGNE BILLANCOURT (92)LibéralRPPS 10001428944

📊 Reconnaissance scientifique : 19/100📝 35 articles publiés🇫🇷 Publications académiques françaises (1)

✨ Génération du profil synthétique IA en cours…

Activité de recherche & publications

Indicateurs publics agrégés sur 250 M+ d'œuvres scientifiques (OpenAlex, PubMed). Traduits ici en langage patient.

Influence scientifique

Données ANS publiques (Licence Ouverte 2.0) · Enrichissements MonRhumato 100 % opt-in · Toute personne référencée peut demander la suppression ou la rectification.

Top publications · les plus citées

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

Clinical journal of the American Society of Nephrology : CJASN · 2018

📚 179 citations🎯 RCR 7.67Top 4% NIH🔓 Open Access

Lire l'abstract Crossref ↓

Background and objectives Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with steroid-resistant nephrotic syndrome. Panel sequencing has a number of limitations when compared with whole exome sequencing. We employed whole exome sequencing to detect monogenic causes of steroid-resistant nephrotic syndrome in an international cohort of 300 families. Design, setting, participants, & measurements Three hundred thirty-five individuals with steroid-resistant nephrotic syndrome from 300 families were recruited from April of 1998 to June of 2016. Age of onset was restricted to <25 years of age. Exome data were evaluated for 33 known monogenic steroid-resistant nephrotic syndrome genes. Results In 74 of 300 families (25%), we identified a causative mutation in one of 20 genes known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a mutation in a gene that causes a phenocopy of steroid-resistant nephrotic syndrome. This is consistent with our previously published identification of mutations using a panel approach. We detected a causative mutation in a known steroid-resistant nephrotic syndrome gene in 38% of consanguineous families and in 13% of nonconsanguineous families, and 48% of children with congenital nephrotic syndrome. A total of 68 different mutations were detected in 20 of 33 steroid-resistant nephrotic syndrome genes. Fifteen of these mutations were novel. NPHS1, PLCE1, NPHS2, and SMARCAL1 were the most common genes in which we detected a mutation. In another 28% of families, we detected mutations in one or more candidate genes for steroid-resistant nephrotic syndrome. Conclusions Whole exome sequencing is a sensitive approach toward diagnosis of monogenic causes of steroid-resistant nephrotic syndrome. A molecular genetic diagnosis of steroid-resistant nephrotic syndrome may have important consequences for the management of treatment and kidney transplantation in steroid-resistant nephrotic syndrome.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Nature genetics · 2017

📚 172 citations🎯 RCR 5.52Top 7% NIH🔓 Open Access📄 PDF gratuit ↗

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

The Journal of clinical investigation · 2018

📚 106 citations🎯 RCR 3.78Top 12% NIH🔓 Open Access📄 PDF gratuit ↗

Cookies & analyse de trafic

M DAVID SCHAPIRO

Pourquoi vous devez consulter ce praticien

Activité de recherche & publications

Publications académiques en France

Lieux de consultation(4)

Tarifs & secteur de conventionnement

Prendre rendez-vous & contact

Top publications · les plus citées

Publications scientifiques (17) — classées par pathologie

Transversal10

Pédiatrie3

Vraie vie / RWE3

Épidémiologie & registres1

Génétique1

Revue générale1

Partager cette fiche