Gillian Turner

Overview

Best Publications

• Prevalence of fragile X syndrome.

  G. Turner;T. Webb;S. Wake;H. Robinson

  963
  Citations

• A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

  Patrick S Tarpey;Raffaella Smith;Erin Pleasance;Annabel Whibley

  678
  Citations

• Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

  Petter Strømme;Marie E. Mangelsdorf;Marie E. Mangelsdorf;Marie A. Shaw;Karen M. Lower;Karen M. Lower

  503
  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

• 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 in UPF3B , a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

  Patrick S. Tarpey;F. Lucy Raymond;Lam S. Nguyen;Jayson Rodriguez

  306
  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 CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor

  Patrick S. Tarpey;F. Lucy Raymond;Sarah O’Meara;Sarah Edkins

  290
  Citations

• Fragile-X syndrome: Unique genetics of the heritable unstable element

  S. Yu;J. Mulley;D. Loesch;G. Turner

  259
  Citations

• SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

  Gregor D. Gilfillan;Kaja K. Selmer;Ingrid Roxrud;Raffaella Smith

  250
  Citations

• Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

  Guido Froyen;Mark Corbett;Joke Vandewalle;Irma Jarvela;Irma Jarvela

  245
  Citations

• Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

  Karen M Lower;Karen M Lower;Gillian Turner;Bronwyn A Kerr;Katherine D Mathews

  234
  Citations

• Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

  Patrick Tarpey;Josep Parnau;Matthew Blow;Hayley Woffendin

  223
  Citations

• Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus

  F. Lucy Raymond;Patrick S. Tarpey;Sarah Edkins;Calli Tofts

  201
  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

• Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.

  Florence Molinari;François Foulquier;François Foulquier;Patrick S. Tarpey;Willy Morelle

  179
  Citations

• Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

  Cheryl Shoubridge;Cheryl Shoubridge;Patrick S Tarpey;Fatima Abidi;Sarah L Ramsden

  169
  Citations

• Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.

  Gillian Turner;Michael Partington;Bronwyn Kerr;Marie Mangelsdorf;Marie Mangelsdorf

  161
  Citations

• Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.

  Andreas Tzschach;Steffen Lenzner;Bettina Moser;Richard Reinhardt

  157
  Citations

• X-linked mental retardation

  Gillian Turner;Brian Turner

  147
  Citations