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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

Molecular psychiatry, 2016-01, Vol.21 (1), p.126-132

2016

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Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

Molecular psychiatry, 2015-02, Vol.20 (2), p.176-182

2015

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A Upf3b-mutant mouse model with behavioral and neurogenesis defects

Molecular psychiatry, 2018-08, Vol.23 (8), p.1773-1786

2018

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Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

Molecular psychiatry, 2010-07, Vol.15 (7), p.767-776

2010

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Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing

Npj genomic medicine, 2021-09, Vol.6 (1), p.74-74, Article 74

2021

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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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Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability

Molecular psychiatry, 2012-11, Vol.17 (11), p.1103-1115

2012

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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Journal of medical genetics, 2007-07, Vol.44 (7), p.472-477

2007

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CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

Molecular psychiatry, 2012-01, Vol.17 (1), p.4-7

2012

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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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Targeted resequencing identifies genes with recurrent variation in cerebral palsy

Npj genomic medicine, 2019-11, Vol.4 (1), p.1-11, Article 27

2019

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Non-Syndromic 46,XY Disorders of Sex Development

Acta medica martiniana, 2018-06, Vol.18 (1), p.35-41

2018

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Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients

Leukemia, 2008-04, Vol.22 (4), p.870-873

2008

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The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects

Annals of human genetics, 2000-03, Vol.64, p.95-106

Gecz, J

2000

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Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene

Clinical genetics, 2011-12, Vol.80 (6), p.510-522

2011

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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Nature genetics, 2017-04, Vol.49 (4), p.515-526

2017

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The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects

Annals of human genetics, 2000-03, Vol.64 (2), p.95-106

GECZ, J.

2000

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Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Nature genetics, 2020-10, Vol.52 (10), p.1046-1056

2020

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Avascular necrosis of bone in childhood cancer patients: a possible role of genetic susceptibility

Bratislavské lékarské listy, 2015, Vol.116 (5), p.289-295

2015

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The genetic landscape of intellectual disability arising from chromosome X

Trends in genetics, 2009-07, Vol.25 (7), p.308-316

2009

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P.1.20 GOSR2: A novel form of Congenital Muscular Dystrophy

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.748-748

2013

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A missense mutation in RPS6KA3 ( RSK2 ) responsible for non-specific mental retardation

Nature genetics, 1999-05, Vol.22 (1), p.13-14

1999

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Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy

Journal of Child Neurology, 2019-07, Vol.34 (8), p.472-476

2019

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

A Upf3b-mutant mouse model with behavioral and neurogenesis defects

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

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

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing

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

Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

New insights into Brunner syndrome and potential for targeted therapy

Targeted resequencing identifies genes with recurrent variation in cerebral palsy

Non-Syndromic 46,XY Disorders of Sex Development

Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients

The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects

Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Avascular necrosis of bone in childhood cancer patients: a possible role of genetic susceptibility

The genetic landscape of intellectual disability arising from chromosome X

P.1.20 GOSR2: A novel form of Congenital Muscular Dystrophy

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

A missense mutation in RPS6KA3 ( RSK2 ) responsible for non-specific mental retardation

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy

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