Michel Goossens - Concepedia

Author

Michel Goossens

Also Known As

Goossens, Michel, M Goossens, M. GOOSSENS, M. Goossens, M.(a) Goossens, MICHEL GOOSSENS, Merel Goossens, Michel Goossens

199

Publications

11.1K

Citations

H-Index

178

Concepts

All Affiliations

Inserm Assistance Publique – Hôpitaux de Paris Hôpitaux Universitaires Henri-Mondor Université Paris-Est Créteil Centre Hospitalier Universitaire Henri-Mondor

About

Michel Goossens is an author at Inserm specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	48	89	7.2K
2	Natural Sciences	15	16	1K
3	Public Health	8	8	469
4	Engineering	7	7	296
5	Health Sciences	6	6	309

Michel Goossens

141

Publications

10.3K

Citations

H-Index

Page 1

	Year	Citations
SOX10 mutations in patients with Waardenburg-Hirschsprung disease Véronique Pingault, Nadège Bondurand, Kirsten Kuhlbrodt, Nature Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsPathogenesis	1998	817
Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia Gaëlle Pennarun, Estelle Escudier, Catherine Chapelin, The American Journal of Human Genetics Mendelian DisorderGeneticsPathogenesisPathologyMolecular Genetics	1999	393
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency Irène Netchine, Marie‐Laure Sobrier, Heiko Krude, Nature Genetics Pituitary GlandEndocrine DiseaseHuman GrowthGenetic DisorderGenetics	2000	366
Hepatosplenic T-cell lymphoma: sinusal/sinusoidal localization of malignant cells expressing the T-cell receptor gamma delta JP Farcet, Philippe Gaulard, JP Marolleau, Blood	1990	317
Molecular characterization of cystic fibrosis: 16 Novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions Pascale Fanen, Nada Ghanem, Michel Vidaud, Genomics Splice Site JunctionsMolecular PhysiologyGenetic DisorderNatural SciencesGenetics	1992	267
MEFV-Gene Analysis in Armenian Patients with Familial Mediterranean Fever: Diagnostic Value and Unfavorable Renal Prognosis of the M694V Homozygous Genotype—Genetic and Therapeutic Implications Cécile Cazeneuve, Tamara Sarkisian, Christophe Pécheux, The American Journal of Human Genetics Diagnostic VirologyArmenian PatientsMedicinePathogenesisGenetic Epidemiology	1999	258
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
Species-specific Alternative Splice Mimicry at the Growth Hormone Receptor Locus Revealed by the Lineage of Retroelements during Primate Evolution Jacques Pantel, Kalotina Machinis, Marie‐Laure Sobrier, Journal of Biological Chemistry	2000	200
Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness Véronique Pingault, Virginie Bodereau, Viviane Baral, The American Journal of Human Genetics	2013	195
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

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