Andreas Tzschach

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

• Deep sequencing reveals 50 novel genes for recessive cognitive disorders

  Hossein Najmabadi;Hao Hu;Masoud Garshasbi;Tomasz Zemojtel

  1052
  Citations

• Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

  Lars Riff Jensen;Marion Amende;Ulf Gurok;Bettina Moser

  422
  Citations

• STXBP1 encephalopathy A neurodevelopmental disorder including epilepsy

  Hannah Stamberger;Marina Nikanorova;Marjolein H. Willemsen;Patrizia Accorsi

  335
  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

• Mutations in NSUN2 cause autosomal-recessive intellectual disability

  Lia Abbasi-Moheb;Sara Mertel;Melanie Gonsior;Leyla Nouri-Vahid

  288
  Citations

• Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.

  Maila Giannandrea;Veronica Bianchi;Maria Lidia Mignogna;Alessandra Sirri

  262
  Citations

• A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.

  Mohammad Mahdi Motazacker;Benjamin Rainer Rost;Tim Hucho;Masoud Garshasbi

  223
  Citations

• Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

  Joanna Walczak-Sztulpa;Jonathan Eggenschwiler;Daniel Osborn;Desmond A. Brown

  218
  Citations

• A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

  Bartlomiej Budny;Wei Chen;Heymut Omran;Manfred Fliegauf

  214
  Citations

• Genetics of intellectual disability in consanguineous families

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

  207
  Citations

• Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

  Vera M. Kalscheuer;Kristine Freude;Luciana Musante;Lars R. Jensen

  192
  Citations

• Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

  Asif Mir;Liana Kaufman;Abdul Noor;Mahdi M. Motazacker

  183
  Citations

• Mapping translocation breakpoints by next-generation sequencing

  Wei Chen;Vera Kalscheuer;Andreas Tzschach;Corinna Menzel

  183
  Citations

• A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.

  Masoud Garshasbi;Valeh Hadavi;Haleh Habibi;Kimia Kahrizi

  177
  Citations

• Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

  Dorien Lugtenberg;Tjitske Kleefstra;Astrid R. Oudakker;Willy M. Nillesen

  171
  Citations

• Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

  Vera M. Kalscheuer;David FitzPatrick;Niels Tommerup;Merete Bugge

  171
  Citations

• Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

  Nina Bögershausen;Vincent Gatinois;Vincent Gatinois;Vera Riehmer;Hülya Kayserili

  168
  Citations

• High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease

  Fikret Erdogan;Lars Allen Larsen;Litu Zhang;Zeynep Tumer

  164
  Citations

• Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

  Hossein Najmabadi;Mohammad Mahdi Motazacker;Masoud Garshasbi;Kimia Kahrizi

  158
  Citations