Gabriele Gillessen‐Kaesbach

University of Lübeck — Germany

Biochemistry, Genetics and Molecular Biology · Life Sciences

60h-index13.0kcitations232works0.02yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(56), Genetic Syndromes and Imprinting(51), Prenatal Screening and Diagnostics(36), Epigenetics and DNA Methylation(32), Genetics and Neurodevelopmental Disorders(29)

Publications232 total

Nachruf Prof. Dr. med. Eberhard Schwinger
Medizinische Genetik·2023Open Access
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis
Genetics in Medicine·2022· 3 citedOpen Access
Protocol of the Luebeck longitudinal investigation of SARS-CoV-2 infection (ELISA) study – a prospective population-based cohort study
BMC Public Health·2022· 8 citedOpen Access
One-year surveillance of SARS-CoV-2 transmission of the ELISA cohort: A model for population-based monitoring of infection risk
Science Advances·2022· 25 citedOpen Access
Cohort-based surveillance of SARS-CoV2 transmission mirrors infection rates at the population level: a one-year longitudinal study
2021· 1 citedOpen Access
Author response for "ANKRD11 variants: KBG syndrome and beyond"
2021· 1 citedOpen Access
Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant
European Journal of Human Genetics·2021· 9 citedOpen Access
The adult phenotype of Schaaf-Yang syndrome
Orphanet Journal of Rare Diseases·2020· 30 citedOpen Access
Reply to: Double Trouble from <scp><i>POLG1</i></scp> and <scp><i>CLCN1</i></scp> Variants with Intrafamilial Phenotypic Heterogeneity
Movement Disorders Clinical Practice·2020Open Access
Genetik in der Reproduktionsmedizin
Springer Reference Medizin·2019· 1 cited
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
Genetics in Medicine·2019· 63 citedOpen Access
“Twitching” and Stiffness in <i>POLG1</i> Mutation Carriers: Red Flag or Red Herring?
Movement Disorders Clinical Practice·2019· 3 citedOpen Access
Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema
Clinical and Translational Allergy·2019· 33 citedOpen Access
Novel gene and pathomechanism in Cornelia de Lange syndrome.
HAL (Le Centre pour la Communication Scientifique Directe)·2019
Humangenetik
Pädiatrie·2018Open Access
Specific combinations of biallelic <i>POLR3A</i> variants cause Wiedemann-Rautenstrauch syndrome
Journal of Medical Genetics·2018· 60 citedOpen Access
Different Genetic Causes of Short Stature in a Family
57th Annual ESPE·2018
The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders
Epigenetics·2018· 15 citedOpen Access
The First Missense Pathogenic Variant in the KAT6A Gene
2018
A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay
Journal of Human Genetics·2018· 21 cited
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Frequent Co-authors

Dagmar Wieczorek(20), Bernhard Horsthemke(10), Raoul C. M. Hennekam(8), Peter Meinecke(8), Beate Albrecht(8), Denise Horn(6), Frank J. Kaiser(5), Karin Buiting(5), Anita Rauch(5), Frank Majewski(5), Louise C. Wilson(4), Dinah Clark(4), Stefan Mundlos(4), David Fitzpatrick(4), Koenraad Devriendt(4), Han G. Brunner(4), Diana Braunholz(4), Hermann‐Josef Lüdecke(4), Ian D. Krantz(4), Stefan Böhringer(4)