Gabriele Gillessen-Kaesbach
University of Lübeck(DE)
Publications by Year
Research Areas
Epigenetics and DNA Methylation, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Genetic Syndromes and Imprinting, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I(2000)372 cited
- → Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis(1998)216 cited
- → Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type B(2000)190 cited
- → Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome(1995)121 cited
- → Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype(2010)32 cited
- → Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: Compound heterozygosity Jeune-Mohr and Jeune-Ivemark?(1996)28 cited
- → Erratum: Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome(2003)3 cited
- → Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice(2018)2 cited
- → Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis(2023)
- → Rapid detection of an Angiotensin Type 2 Receptor Gene variant: no evidence for linkage and association with primary vesicoureteral reflux(2000)