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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

American journal of human genetics, 2023-02, Vol.110 (2), p.215-227

2023

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

Nature genetics, 2009-05, Vol.41 (5), p.535-543

2009

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Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C

BMC medical genomics, 2013-01, Vol.6 (1), p.1-1, Article 1

2013

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

Nature genetics, 2010-06, Vol.42 (6), p.486-488

2010

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

European journal of human genetics : EJHG, 2010-05, Vol.18 (5), p.544-552

2010

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Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

American journal of human genetics, 2010-08, Vol.87 (2), p.173-188

2010

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A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor

Human molecular genetics, 2005-04, Vol.14 (8), p.1019-1027

2005

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HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

BMJ open, 2016-04, Vol.6 (4), p.e009537-e009537

2016

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Cell fate changes induced by a Distal-less enhancer-trap transgene in the Drosophila antennal imaginal disc

Scientific reports, 2018-03, Vol.8 (1), p.4950-13, Article 4950

2018

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Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome

European journal of human genetics : EJHG, 2005-02, Vol.13 (2), p.176-183

2005

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Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth

American journal of human genetics, 2014-03, Vol.94 (3), p.470-478

2014

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Redefining the Etiologic Landscape of Cerebellar Malformations

American journal of human genetics, 2019-09, Vol.105 (3), p.606-615

2019

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Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia

Journal of medical genetics, 2008-12, Vol.45 (12), p.787-793

2008

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A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate

Clinical genetics, 2007-07, Vol.72 (1), p.19-22

2007

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Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome

American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3348-3351

2016

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Novel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 Gene ( PQBP1) Cause Renpenning Syndrome and X-Linked Mental Retardation in Another Family with Microcephaly

American journal of human genetics, 2004-04, Vol.74 (4), p.777-780

2004

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X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation

Genome Research, 2007-05, Vol.17 (5), p.641-648

2007

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Altered neurodevelopment associated with mutations of RSK2 : a morphometric MRI study of Coffin-Lowry syndrome

Neurogenetics, 2007-04, Vol.8 (2), p.143-147

2007

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A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25

Journal of medical genetics, 2000-09, Vol.37 (9), p.663-668

2000

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XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28

American journal of medical genetics, 1999-07, Vol.85 (3), p.243-248

1999

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Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS)

European journal of human genetics : EJHG, 1999-01, Vol.7 (1), p.20-26

1999

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Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1

Human genetics, 1998-11, Vol.103 (5), p.547-556

1998

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Penetrance of Mutations in the Familial Wilms Tumor Gene FWT1

JNCI : Journal of the National Cancer Institute, 2000-04, Vol.92 (8), p.650-652

2000

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Family MRX9 revisited: Further evidence for locus heterogeneity in MRX

American journal of medical genetics, 2002-09, Vol.112 (1), p.17-22

2002

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Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome

Journal of medical genetics, 1999-03, Vol.36 (3), p.183-186

1999

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

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

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C

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

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

Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

Cell fate changes induced by a Distal-less enhancer-trap transgene in the Drosophila antennal imaginal disc

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome

Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth

Redefining the Etiologic Landscape of Cerebellar Malformations

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia

A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate

Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome

Novel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 Gene ( PQBP1) Cause Renpenning Syndrome and X-Linked Mental Retardation in Another Family with Microcephaly

X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation

Altered neurodevelopment associated with mutations of RSK2 : a morphometric MRI study of Coffin-Lowry syndrome

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25

XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28

Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS)

Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1

Penetrance of Mutations in the Familial Wilms Tumor Gene FWT1

Family MRX9 revisited: Further evidence for locus heterogeneity in MRX

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome

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