Gabriele Gillessen-Kaesbach

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

Parastoo Momeni, Gernot Glöckner, Olaf Schmidt et al. · Nature Genetics · 2000 · 374 citations

Life Sciences, Genetics, Molecular Genetics +10

Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis

Karin Buiting, Bärbel Dittrich, Stephanie Groß et al. · The American Journal of Human Genetics · 1998 · 216 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type B

Georg C. Schwabe, Sigrid Tinschert, Christian Buschow et al. · The American Journal of Human Genetics · 2000 · 190 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome

Gabriele Gillessen-Kaesbach, Wendy P. Robinson, Dietmar Lohmann et al. · Human Genetics · 1995 · 121 citations

Life Sciences, Genetics, Molecular Genetics +13

Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype

Véronique Dutrannoy, Ilja Demuth, Ulrich Baumann et al. · Human Mutation · 2010 · 33 citations

Life Sciences, Genetics, Molecular Genetics +17