Pierre Sarda - Concepedia

Author

Pierre Sarda

Inserm

Also Known As

Damien Sanlaville, PIERRE SARDA, Pierre Sarda, Pierre Sarda (222708), Reinhard Mühlenberg, Sarda, Pierre

117

Publications

Citations

H-Index

139

Concepts

All Affiliations

Inserm Hôpital Arnaud de Villeneuve Université de Montpellier Génétique Médicale & Génomique Fonctionelle Hôpital Robert-Debré

About

Pierre Sarda is an author at Inserm specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	28	38	2.9K
2	Natural Sciences	5	5	565
3	Health Sciences	4	4	158
4	Public Health	4	4	261
5	Social Sciences	1	1	67

Pierre Sarda

Publications

4.5K

Citations

H-Index

Page 1

	Year	Citations
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus Corinne Stoetzel, Virginie Laurier, Erica E. Davis, Nature Genetics Protein FunctionVertebrate-specific Chaperonin-like ProteinProtein FoldingGeneticsMedicine	2006	284
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing Claire Redin, Bénédicte Gérard, Julia Lauer, Journal of Medical Genetics	2014	270
Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 Nadège Bondurand, Florence Dastot‐Le Moal, Laure Stanchina, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsPathologyMolecular Genetics	2007	256
Mutations in the pre-replication complex cause Meier-Gorlin syndrome Louise S. Bicknell, Ernie M.H.F. Bongers, Andrea Leitch, Nature Genetics Mendelian DisorderGenetic DisorderGeneticsDna ReplicationMolecular Genetics	2011	250
Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome Corinne Stoetzel, Jean Muller, Virginie Laurier, The American Journal of Human Genetics Protein FunctionGenetic DisorderNatural SciencesGeneticsChaperonin-related Proteins	2006	235
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome Grégory Raux, Emilie Bumsel, B. Hecketsweiler, Human Molecular Genetics	2006	170
Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain Renaud Touraine, Tania Attié‐Bitach, E. Manceau, The American Journal of Human Genetics Neurodegenerative DiseasesDevelopmental BiologyMendelian DisorderBrain DevelopmentMedicine	2000	166
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients Marie Vincent, David Geneviève, Agnès Ostertag, Genetics in Medicine Large SeriesCollins SyndromeMolecular StudyPathology	2015	159
Bardet-Biedl Syndrome O. Imhoff, Vincent Marion, Corinne Stoetzel, Clinical Journal of the American Society of Nephrology	2010	125
15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients Clémence Vanlerberghe, Florence Petit, Valérie Malan, European Journal of Medical Genetics Cardiovascular DiseaseBehaviour IssuesPediatric Heart DiseasePediatricsCongenital Heart Defect	2015	120

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