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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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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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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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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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Angelman syndrome with a 15q11q13 deletion in a mother and daughter

Clinical dysmorphology, 2022-04, Vol.31 (2), p.91

2022

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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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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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Molecular Cloning and Characterization of TRPC5 (HTRP5), the Human Homologue of a Mouse Brain Receptor-Activated Capacitative Ca2+ Entry Channel

Genomics (San Diego, Calif.), 1999-09, Vol.60 (3), p.330-340

1999

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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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Identification and Characterization of a Phase-Specific, Nuclear DNA Binding Protein from the Dimorphic Pathogenic Fungus Histoplasma capsulatum

Infection and Immunity, 1998-08, Vol.66 (8), p.3867-3873

1998

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Corrigendum to: 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.552-552

2010

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

European journal of human genetics : EJHG, 2010-04, Vol.18 (5), p.552-552

2010

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Molecular cloning and sequence analysis of yps-3, a yeast-phase-specific gene in the dimorphic fungal pathogen Histoplasma capsulatum

Microbiology (Society for General Microbiology), 1994-04, Vol.140 ( Pt 4), p.759

1994

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Yeast artificial chromosomes containing human Xq24–Xq28 DNA: Library construction and representation of probe sequences

Genomics (San Diego, Calif.), 1990-07, Vol.7 (3), p.363-376

1990

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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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Human glucose-6-phosphate dehydrogenase gene carried on a yeast artificial chromosome encodes active enzyme in monkey cells

Genomics (San Diego, Calif.), 1990-08, Vol.7 (4), p.531-534

1990

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1.5-Mb YAC Contig in Xq28 Formatted with Sequence-Tagged Sites and Including a Region Unstable in the Clones

Genomics (San Diego, Calif.), 1993-06, Vol.16 (3), p.586-592

1993

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Lectin-binding assay by polyethylene glycol 8000

Analytical biochemistry, 1987-11, Vol.166 (2), p.257-266

1987

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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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Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability

Clinical genetics, 2024-02, Vol.105 (2), p.173-184

2024

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

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

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

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

Angelman syndrome with a 15q11q13 deletion in a mother and daughter

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

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

Molecular Cloning and Characterization of TRPC5 (HTRP5), the Human Homologue of a Mouse Brain Receptor-Activated Capacitative Ca2+ Entry Channel

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

Identification and Characterization of a Phase-Specific, Nuclear DNA Binding Protein from the Dimorphic Pathogenic Fungus Histoplasma capsulatum

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

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

Molecular cloning and sequence analysis of yps-3, a yeast-phase-specific gene in the dimorphic fungal pathogen Histoplasma capsulatum

Yeast artificial chromosomes containing human Xq24–Xq28 DNA: Library construction and representation of probe sequences

Family MRX9 revisited: Further evidence for locus heterogeneity in MRX

Human glucose-6-phosphate dehydrogenase gene carried on a yeast artificial chromosome encodes active enzyme in monkey cells

1.5-Mb YAC Contig in Xq28 Formatted with Sequence-Tagged Sites and Including a Region Unstable in the Clones

Lectin-binding assay by polyethylene glycol 8000

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

Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability

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

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

Redefining the Etiologic Landscape of Cerebellar Malformations

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

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