Gabriele Gillessen‐Kaesbach

Author

Also Known As

Ana Maria Fortuna, G Gillessen-Kaesbach, G. Gillessen-Kaesbach, G. Gillessen‐Kaesbach, Gabriele Gillessen-Kaesbach, Gabriele Gillessen‐Kaesbach, Gillessen-Kaesbach, G., Gillessen-Kaesbach, Gabriele, U. Thyen

232

Publications

13K

Citations

H-Index

171

Concepts

All Affiliations

University of Lübeck Essen University Hospital Institut für Medizinische Informatik, Biometrie und Epidemiologie University of Duisburg-Essen Charité - Universitätsmedizin Berlin

About

Gabriele Gillessen‐Kaesbach is an author at University of Lübeck specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	49	83	8.3K
2	Natural Sciences	5	5	282
3	Engineering	3	3	184
4	Arts	1	1	13
5	Health Sciences	1	1	103

Gabriele Gillessen‐Kaesbach

124

Publications

11.9K

Citations

H-Index

Page 1

	Year	Citations
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome Tetsuya Niihori, Yoko Aoki, Yoko Narumi, Nature Genetics Mendelian DisorderGenetic DisorderGermline KrasGeneticsDermatology	2006	593
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle Matthew A. Deardorff, Masashige Bando, Ryuichiro Nakato, Nature Mendelian DisorderCohesin Acetylation CycleGenetic DisorderGeneticsLange Syndrome	2012	563
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1 Frederick S. Kaplan, Meiqi Xu, Petra Seemann, Human Mutation	2008	436
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly Deeann Wallis, Erich Roessler, Ute Hehr, Nature Genetics Developmental BiologyGenetic DisorderGeneticsAutophagyMolecular Genetics	1999	427
Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect Karin Buiting, Stephanie Groß, Christina Lich, The American Journal of Human Genetics Imprinting DefectMolecular StudyAngelman Syndromes	2003	366
Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation Francesca Pasutto, Heinrich Sticht, G. Hammersen, The American Journal of Human Genetics Developmental AnomalyDevelopmental BiologyGenetic DisorderGeneticsPathology	2007	358
Loss-of-function mutations in the human <i>GLI2</i> gene are associated with pituitary anomalies and holoprosencephaly-like features Erich Roessler, Yangzhu Du, José L. Mullor, Proceedings of the National Academy of Sciences GeneticsMolecular GeneticsDisease Gene IdentificationPituitary AnomaliesMendelian Disorder	2003	344
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes Hao Hu, Stefan A. Haas, Jamel Chelly, Molecular Psychiatry	2015	299
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome Alexander Hoischen, Bregje W.M. van Bon, Benjamín Rodríguez‐Santiago, Nature Genetics Somatic VariantAutoimmune DiseaseMendelian DisorderGenetic DisorderGenetics	2011	277
RAD21 Mutations Cause a Human Cohesinopathy Matthew A. Deardorff, Jonathan J. Wilde, Melanie Albrecht, The American Journal of Human Genetics Rad21 Mutations CauseGenetic DisorderGeneticsPathologyDisease Gene Identification	2012	267

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