Brigitte Simon‐Bouy

Author

Brigitte Simon‐Bouy

Also Known As

B Simon-Bouy, B. (b, c) Simon-Bouy, B. SIMON‐BOUY, B. Simon-Bouy, B. Simon‐Bouy, Brigitte Simon-Bouy, Brigitte Simon‐Bouy, C Missirian, Simon-Bouy, B.

Publications

2.8K

Citations

H-Index

Concepts

All Affiliations

Inserm Université de Versailles Saint-Quentin-en-Yvelines Hôpital Robert-Debré Centre Hospitalier de Versailles Hôpital Necker-Enfants Malades

About

Brigitte Simon‐Bouy is an author at Inserm specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	21	26	1.6K
2	Public Health	6	6	470
3	Biology	4	4	371
4	Cell Biology	3	3	79
5	Natural Sciences	1	1	14

Brigitte Simon‐Bouy

Publications

2.7K

Citations

H-Index

Page 1

	Year	Citations
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes Hao Hu, Stefan A. Haas, Jamel Chelly, Molecular Psychiatry	2015	299
A Molecular‐Based Estimation of the Prevalence of Hypophosphatasia in the European Population Étienne Mornet, Alice Yvard, A. Taillandier, Annals of Human Genetics Parasitic DiseaseGeneticsGenetic EpidemiologyPathologyDisease Gene Identification	2011	228
Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome Houda Karmous‐Benailly, Jelena Martinović, Marie-Claire Gübler, The American Journal of Human Genetics Developmental AnomalyPediatricsAntenatal Presentation	2005	136
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening Christel Thauvin‐Robinet, À. Munck, Frédéric Huet, Journal of Medical Genetics	2009	126
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia Étienne Mornet, A. Taillandier, S Peyramaure, European Journal of Human Genetics BiologyGenetic DisorderGeneticsPathogenesisInherited Metabolic Disease	1998	124
A molecular approach to dominance in hypophosphatasia Anne-Sophie Lia-Baldini, Françoise Müller, A. Taillandier, Human Genetics BiologyParasitic ProtozoaAutophagyMolecular GeneticsMolecular Approach	2001	106
Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics J.L. Serre, Brigitte Simon‐Bouy, Étienne Mornet, Human Genetics Genetic TestingMendelian DisorderGenetic DisorderMedicineGenetics	1990	99
Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects E. Mornet, Fran�oise Muller, Annie Lenvois�-Furet, Human Genetics Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseMolecular Biology	1997	98
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation Étienne Mornet, A. Taillandier, Christelle Domingues, European Journal of Human Genetics BiologyGenetic DisorderMedicineGeneticsGenetic Epidemiology	2020	98
Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients Sarah Grotto, Jean‐Marie Cuisset, Stéphane Marret, Journal of Neuromuscular Diseases	2016	90

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