Beate Albrecht

Beate Albrecht 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 Beate Albrecht sits on this spectrum.

Beate Albrecht 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 Beate Albrecht sits on this spectrum.

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