List of works - Gillian Turner

1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family

scientific article published in October 2004

A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

scientific article published on 25 May 2016

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.

scientific article

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

scientific article

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

scientific article published in July 2007

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

scientific article

Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

scientific article published on 22 April 2010

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

scientific article

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

scientific article

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

scientific article published on 19 January 2007

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability

scientific article

Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.

scientific article

Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis

article

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

scientific article

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.

scientific article published on 16 August 2012

Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.

scientific article published on 28 February 2007

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

scientific article

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

scientific article published in February 2007

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

scientific article

Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks

scientific article published on 11 January 2010

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

scientific article

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

scientific article

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

scientific article

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

scholarly article

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

scientific article

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

scientific article

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

scientific article

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

scientific article

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

scientific article (publication date: April 2002)

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

scientific article (publication date: December 2003)

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

scientific article

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

scientific article

Outcomes of a cystic fibrosis carrier testing clinic for couples.

scientific article

Reply

scientific article published in April 1998

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

scientific article published on 13 March 2008

Screening couples for cystic fibrosis carrier status: why are we waiting?

scientific article published on 01 May 2006

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.

scientific article published on 29 September 2007

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

scientific article published on 24 January 2008

Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22.

scientific article published in March 2003

The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).

scientific article

The intellectual disabilities evaluation and advice system (IDEAS): outcome of the first 55 cases

scientific article published on 24 March 2014

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

scientific article (publication date: November 2002)

X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.

scientific article published on 13 September 2006

List of works by Gillian Turner

1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family

A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.

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

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

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability

Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.

Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.

Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

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

Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks

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

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

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

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

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

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

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

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

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

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

Outcomes of a cystic fibrosis carrier testing clinic for couples.

Reply

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

Screening couples for cystic fibrosis carrier status: why are we waiting?

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.

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

Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22.

The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).

The intellectual disabilities evaluation and advice system (IDEAS): outcome of the first 55 cases

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

X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.