Gabriele Gillessen-Kaesbach

Gabriele Gillessen-Kaesbach publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Gabriele Gillessen-Kaesbach sits on this spectrum.

Gabriele Gillessen-Kaesbach D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Gabriele Gillessen-Kaesbach sits on this spectrum.

Overview

Best Publications

• Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

  Tetsuya Niihori;Yoko Aoki;Yoko Narumi;Giovanni Neri

  671
  Citations

• HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

  Matthew A. Deardorff;Masashige Bando;Ryuichiro Nakato;Erwan Watrin

  655
  Citations

• Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.

  Deeann E. Wallis;Erich Roessler;Erich Roessler;Ute Hehr;Luisa Nanni

  470
  Citations

• 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;J. Michael Connor

  468
  Citations

• Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

  Erich Roessler;Yang-Zhu Du;Jose L. Mullor;Esther Casas

  466
  Citations

• 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;Gerhard Hammersen;Gabriele Gillessen-Kaesbach

  456
  Citations

• Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect

  Karin Buiting;Stephanie Groß;Christina Lich;Gabriele Gillessen-Kaesbach

  373
  Citations

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

  P. Momeni;G. Glöckner;O. Schmidt;D. Von Holtum

  368
  Citations

• RAD21 Mutations Cause a Human Cohesinopathy

  Matthew A. Deardorff;Matthew A. Deardorff;Jonathan J. Wilde;Melanie Albrecht;Emma Dickinson

  318
  Citations

• De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

  Alexander Hoischen;Bregje W M van Bon;Benjamín Rodríguez-Santiago;Benjamín Rodríguez-Santiago;Christian Gilissen

  305
  Citations

• X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

  H. Hu;S. A. Haas;J. Chelly;J. Chelly;H. Van Esch

  297
  Citations

• Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

  A. Reis;B. Dittrich;V. Greger;K. Buiting

  272
  Citations

• Oculo-auriculo-vertebral spectrum (OAVS) : clinical evaluation and severity scoring of 53 patients and proposal for a new classification

  Christiane Tasse;Stefan Böhringer;Sven Fischer;Hermann-Josef Lüdecke

  265
  Citations

• Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

  H.-J. Lüdecke;J. Schaper;P. Meinecke;P. Momeni

  264
  Citations

• Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

  Jeroen K.J. Van Houdt;Beata Anna Nowakowska;Sérgio B. Sousa;Sérgio B. Sousa;Barbera D.C. Van Schaik

  255
  Citations

• Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.

  Bärbel Dittrich;Wendy P. Robinson;Hans Knoblauch;Karin Buiting

  244
  Citations

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

  Georg C. Schwabe;Sigrid Tinschert;Christian Buschow;Peter Meinecke

  241
  Citations

• Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

  M. Witsch-Baumgartner;B. U. Fitzky;M. Ogorelkova;H. G. Kraft

  216
  Citations

• Arterial tortuosity syndrome: Clinical and molecular findings in 12 newly identified families

  B L Callewaert;A Willaert;W S Kerstjens-Frederikse;W S Kerstjens-Frederikse;J De Backer

  214
  Citations

• Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

  Matthew A. Lines;Lijia Huang;Jeremy Schwartzentruber;Stuart L. Douglas

  209
  Citations