Sandra Mercier - Concepedia

Author

Sandra Mercier

Also Known As

Benjamin Cogne, D. Beauger, Edoardo Malfatti, Marie-Line Bichon, Mercier, Sandra, Pascale Marcorelles, S Mercier, S. Mercier, Sandra MERCIER, Sandra Mercier

148

Publications

3.7K

Citations

H-Index

Concepts

All Affiliations

Inserm Génétique Médicale & Génomique Fonctionelle Centre National de la Recherche Scientifique Assistance Publique – Hôpitaux de Paris Sorbonne Université

About

Sandra Mercier is an author at Inserm specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	18	23	1.3K
2	Social Sciences	5	5	255
3	Health Sciences	2	2	41
4	Natural Sciences	1	1	51
5	Biology	1	1	22

Sandra Mercier

Publications

3.2K

Citations

H-Index

Page 1

	Year	Citations
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch, Circulation	2019	245
Lessons learned from additional research analyses of unsolved clinical exome cases Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Tamar Harel, Genome Medicine	2017	230
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsMolecular GeneticsDisease Gene Identification	2017	193
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
Fatal thrombotic microangiopathy case following adeno-associated viral <i>SMN</i> gene therapy Julia Guillou, Alice de Pellegars, Florence Porcheret, Blood Advances	2022	137
New insights into genotype–phenotype correlation for GLI3 mutations Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, European Journal of Human Genetics GeneticsGenotype–phenotype CorrelationMolecular GeneticsGenomicsMedicine	2014	121
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures Slavé Petrovski, Sébastien Küry, Candace T. Myers, The American Journal of Human Genetics Mendelian DisorderBrain DevelopmentGenetic DisorderGeneticsNeurology	2016	116
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects Annie Laquerrière, Jérôme Maluenda, Adrien Camus, Human Molecular Genetics Pns MyelinationDevelopmental BiologyAutoimmune DiseaseMendelian DisorderGenetic Disorder	2013	109
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder Sébastien Küry, Thomas Besnard, Frédéric Ebstein, The American Journal of Human Genetics Molecular NeuroscienceDevelopmental BiologyDe Novo DisruptionSyndromic Neurodevelopmental DisorderMedicine	2017	107
New findings for phenotype–genotype correlations in a large European series of holoprosencephaly cases Sandra Mercier, Christèle Dubourg, Nicolas Garcelon, Journal of Medical Genetics	2011	106

Page 1