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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Molecular psychiatry, 2016-01, Vol.21 (1), p.133-148

2016

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The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules

Human molecular genetics, 2011-12, Vol.20 (24), p.4916-4931

2011

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The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders

Clinical genetics, 2018-11, Vol.94 (5), p.450-456

2018

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New insights into Brunner syndrome and potential for targeted therapy

Clinical genetics, 2016-01, Vol.89 (1), p.120-127

2016

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In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells

Molecular psychiatry, 2015-04, Vol.20 (4), p.459-471

2015

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HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

Human molecular genetics, 2015-06, Vol.24 (12), p.3335-3347

2015

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Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation

American journal of human genetics, 2003-06, Vol.72 (6), p.1401-1411

2003

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Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

Journal of medical genetics, 2004-05, Vol.41 (5), p.394-399

2004

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Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion

Human molecular genetics, 2000-07, Vol.9 (11), p.1587-1595

2000

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Breakpoints around the HOXD cluster result in various limb malformations

Journal of medical genetics, 2006-02, Vol.43 (2), p.111-118

2006

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Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation

Cytogenetic and genome research, 2006-11, Vol.115 (3-4), p.247-253

2006

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Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region

Journal of medical genetics, 2006-06, Vol.43 (6), p.534-540

2006

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Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients

American journal of medical genetics. Part A, 2004-11, Vol.130A (4), p.340-344

2004

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A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation

Journal of medical genetics, 2002-06, Vol.39 (6), p.391-399

2002

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Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

Human genetics, 2005-10, Vol.117 (6), p.536-544

2005

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Mutations in the ZNF41 Gene Are Associated with Cognitive Deficits: Identification of a New Candidate for X-Linked Mental Retardation

American journal of human genetics, 2003-12, Vol.73 (6), p.1341-1354

2003

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Genomic Organization and Expression of the Doublesex-Related Gene Cluster in Vertebrates and Detection of Putative Regulatory Regions for DMRT1

Genomics (San Diego, Calif.), 2001-09, Vol.77 (1-2), p.8-17

2001

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Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations

Cytogenetic and genome research, 2012-06, Vol.136 (4), p.242-245

2012

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Biallelic Expression of the H19 and IGF2 Genes in Human Testicular Germ Cell Tumors

JNCI : Journal of the National Cancer Institute, 1994-07, Vol.86 (14), p.1070-1075

1994

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CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome

Clinical genetics, 2010-01, Vol.77 (1), p.92-96

2010

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High rate of constitutional chromosomal rearrangements in apparently sporadic ALS

Neurology, 2003-04, Vol.60 (8), p.1348-1350

2003

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Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

American journal of medical genetics, 2005-01, Vol.132A (3), p.324-328

2005

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Divergent genetic and epigenetic post‐zygotic isolation mechanisms in Mus and Peromyscus

Journal of evolutionary biology, 2004-03, Vol.17 (2), p.453-460

2004

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Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses

Genomics (San Diego, Calif.), 1997-06, Vol.42 (2), p.236-244

1997

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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders

New insights into Brunner syndrome and potential for targeted therapy

In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion

Breakpoints around the HOXD cluster result in various limb malformations

Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation

Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients

A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

Mutations in the ZNF41 Gene Are Associated with Cognitive Deficits: Identification of a New Candidate for X-Linked Mental Retardation

Genomic Organization and Expression of the Doublesex-Related Gene Cluster in Vertebrates and Detection of Putative Regulatory Regions for DMRT1

Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations

Biallelic Expression of the H19 and IGF2 Genes in Human Testicular Germ Cell Tumors

CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome

High rate of constitutional chromosomal rearrangements in apparently sporadic ALS

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

Divergent genetic and epigenetic post‐zygotic isolation mechanisms in Mus and Peromyscus

Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses

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