Beate Albrecht

Overview

Best Publications

• Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

  Anita Rauch;Dagmar Wieczorek;Elisabeth Graf;Thomas Wieland

  1163
  Citations

• De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

  Jean Baptiste Rivière;Ghayda M. Mirzaa;Brian J. O'Roak;Margaret Beddaoui

  780
  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

• Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

  Huiling He;Sandya Liyanarachchi;Keiko Akagi;Rebecca Nagy

  267
  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

• Extending the KCNQ2 encephalopathy spectrum Clinical and neuroimaging findings in 17 patients

  S Weckhuysen;Ivanovic;R Hendrickx;Van, Coster, R

  250
  Citations

• Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

  Cecilia Giunta;Nursel H. Elçioglu;Beate Albrecht;Georg Eich

  234
  Citations

• A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

  Dagmar Wieczorek;Nina Bögershausen;Filippo Beleggia;Sabine Steiner-Haldenstätt

  229
  Citations

• Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification

  Heike Starke;Angela Nietzel;Anja Weise;Anita Heller

  215
  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

• Genetics of intellectual disability in consanguineous families

  Hao Hu;Hao Hu;Kimia Kahrizi;Luciana Musante;Zohreh Fattahi

  207
  Citations

• Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

  Özge Altug Teber;Gabriele Gillessen-Kaesbach;Sven Fischer;Stefan Böhringer

  190
  Citations

• Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

  Rebecca L. Hood;Matthew A. Lines;Sarah M. Nikkel;Sarah M. Nikkel;Jeremy Schwartzentruber

  185
  Citations

• "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

  Christiane Zweier;Beate Albrecht;Beate Mitulla;Rolf Behrens

  167
  Citations

• Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

  Seval Türkmen;Gabriele Gillessen-Kaesbach;Peter Meinecke;Beate Albrecht

  156
  Citations

• A mutation screen in patients with Kabuki syndrome

  Yun Li;Nina Bögershausen;Yasemin Alanay;Pelin Özlem Simsek Kiper

  152
  Citations

• New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

  Bert Callewaert;Bert Callewaert;Marjolijn Renard;Vishwanathan Hucthagowder;Beate Albrecht

  148
  Citations

• Baraitser-Winter cerebrofrontofacial syndrome: Delineation of the spectrum in 42 cases

  Alain Verloes;Nataliya Di Donato;Julien Masliah-Planchon;Marjolijn Jongmans

  145
  Citations

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

  BL Callewaert;A Willaert;WS Kerstjens-Frederikse;J De Backer

  0
  Citations