Gabriele Gillessen-Kaesbach

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