Gabriele Gillessen‐Kaesbach

Author

Essen University Hospital

Also Known As

GABRIELE GILLESSEN-KAESBACH, Gabriele Gillessen-Kaesbach, Gabriele Gillessen‐Kaesbach

Publications

1.8K

Citations

H-Index

Concepts

All Affiliations

Essen University Hospital University of Lübeck Institut für Medizinische Informatik, Biometrie und Epidemiologie University Hospital Schleswig-Holstein Amsterdam UMC Location University of Amsterdam

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	482
2	Molecular Genetics	4	4	305
3	Public Health	2	2	114
4	Anatomy	1	1	36
5	Neurology	1	1	62

Gabriele Gillessen‐Kaesbach

Publications

1.7K

Citations

H-Index

Page 1

	Year	Citations
Phenotype and 244k array‐CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1‐qter Maria Kirchhoff, Anne‐Marie Bisgaard, Radka Stoeva, American Journal of Medical Genetics Part A Gene Deletion DataDevelopmental BiologyArray‐cgh CharacterizationCytogeneticsMedicine	2009	175
Elements of morphology: Standard terminology for the ear Alasdair G. W. Hunter, Jaime L. Frías, Gabriele Gillessen‐Kaesbach, American Journal of Medical Genetics Part A	2009	149
Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation‐specific PCR Diana Mitter, Karin Buiting, Ferdinand von Eggeling, American Journal of Medical Genetics Part A	2006	140
Further delineation of Kabuki syndrome in 48 well‐defined new individuals Linlea Armstrong, Azza Abd El Monéim, Kirk Aleck, American Journal of Medical Genetics Part A	2004	102
Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome Yoko Narumi, Yoko Aoki, Tetsuya Niihori, American Journal of Medical Genetics Part A	2007	102
The dystonia gene <i>DYT1</i> is repressed by the transcription factor THAP1 (DYT6) Frank J. Kaiser, Alma Osmanoric, Aleksandar Raković, Annals of Neurology	2010	97
Phenotypes and genotypes in individuals with <i>SMC1A</i> variants Sylvia Huisman, Paul A. Mulder, E. Redeker, American Journal of Medical Genetics Part A	2017	94
Prenatally detected trisomy 4 and 6 mosaicism—cytogenetic results and clinical phenotype Dagmar Wieczorek, Eva Christina Prott, Wendy P. Robinson, Prenatal Diagnosis	2003	86
Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the <i>FBN1</i>‐gene Luitgard Graul‐Neumann, Tina Kienitz, Peter N. Robinson, American Journal of Medical Genetics Part A	2010	81
A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect Gabriele Gillessen‐Kaesbach, Stephanie Demuth, Hannelore Thiele, European Journal of Human Genetics Clinical DisordersPsychiatryAngelman SyndromeUnrecognised PhenotypeMedicine	1999	79

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