Gillian Turner

Gillian Turner 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 Gillian Turner sits on this spectrum.

Gillian Turner 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 Gillian Turner sits on this spectrum.

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