Reinhard Ullmann

Overview

Best Publications

• Deep sequencing reveals 50 novel genes for recessive cognitive disorders

  Hossein Najmabadi;Hao Hu;Masoud Garshasbi;Tomasz Zemojtel

  1052
  Citations

• Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

  George Kirov;Dilihan Gumus;Wei Chen;Nadine Norton

  456
  Citations

• Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.

  Eva Klopocki;Harald Schulze;Gabriele Strauß;Claus-Eric Ott

  353
  Citations

• Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

  Reinhard Ullmann;Gillian Turner;Maria Kirchhoff;Wei Chen

  337
  Citations

• Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

  Juliane Najm;Denise Horn;Isabella Wimplinger;Jeffrey A Golden

  331
  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

• Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

  Heather C. Mefford;Séverine Clauin;Andrew J. Sharp;Rikke S. Moller

  295
  Citations

• Gene amplification as double minutes or homogeneously staining regions in solid tumors: Origin and structure

  Clelia Tiziana Storlazzi;Angelo Lonoce;Maria C. Guastadisegni;Domenico Trombetta

  244
  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

• WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

  Hyung Goo Kim;Hyung Goo Kim;Hyung Goo Kim;Jang Won Ahn;Ingo Kurth;Reinhard Ullmann

  215
  Citations

• Epilepsy and mental retardation limited to females: an under-recognized disorder.

  Ingrid E. Scheffer;Samantha J. Turner;Leanne M. Dibbens;Marta A. Bayly

  207
  Citations

• Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly

  Rikke S. Møller;Sabine Kübart;Maria Hoeltzenbein;Babett Heye

  196
  Citations

• Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree

  K.-P. Lesch;S. Selch;T. J. Renner;C. Jacob

  187
  Citations

• Mapping translocation breakpoints by next-generation sequencing

  Wei Chen;Vera Kalscheuer;Andreas Tzschach;Corinna Menzel

  183
  Citations

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

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

  171
  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

• A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.

  Vera M. Kalscheuer;Luciana Musante;Cheng Fang;Kirsten Hoffmann

  156
  Citations

• A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome

  Eva Klopocki;Claus-Eric Ott;Niels Benatar;Reinhard Ullmann

  140
  Citations

• Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

  Linda P. Jakobsen;Reinhard Ullmann;Steen B . Christensen;Karl Erik Jensen

  137
  Citations

• Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

  Anne Gregor;Beate Albrecht;Ingrid Bader;Emilia K Bijlsma

  135
  Citations