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DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

American journal of human genetics, 2016-03, Vol.98 (3), p.553-561

2016

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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Nature genetics, 2011-08, Vol.43 (8), p.729-731

2011

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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

American journal of human genetics, 2017-11, Vol.101 (5), p.716-724

2017

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Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias

European heart journal, 2018-03, Vol.39 (10), p.864-873

2018

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A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

Genetics in medicine, 2017-09, Vol.19 (9), p.1055-1063

2017

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Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes

American journal of human genetics, 2017-09, Vol.101 (3), p.478-484

2017

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Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differences

European heart journal, 2021-01, Vol.42 (2), p.162-174

2021

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Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

American journal of human genetics, 2012-07, Vol.91 (1), p.73-82

2012

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Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

Nature genetics, 2012-08, Vol.44 (8), p.922-927

2012

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DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

American journal of human genetics, 2015-04, Vol.96 (4), p.612-622

2015

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Identification of rare de novo epigenetic variations in congenital disorders

Nature communications, 2018-05, Vol.9 (1), p.2064-11, Article 2064

2018

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Ciliary Dyneins and Dynein Related Ciliopathies

Cells (Basel, Switzerland), 2021-07, Vol.10 (8), p.1885

2021

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De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

American journal of human genetics, 2019-08, Vol.105 (2), p.403-412

2019

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A text-mining analysis of the human phenome

European journal of human genetics : EJHG, 2006-05, Vol.14 (5), p.535-542

2006

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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Nature genetics, 2010-06, Vol.42 (6), p.483-485

2010

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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

American journal of human genetics, 2016-02, Vol.98 (2), p.373-381

2016

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Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

American journal of human genetics, 2012-12, Vol.91 (6), p.1122-1127

2012

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Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients

American journal of human genetics, 2008-10, Vol.83 (4), p.504-510

2008

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Mutations in MED12 Cause X-Linked Ohdo Syndrome

American journal of human genetics, 2013-03, Vol.92 (3), p.401-406

2013

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Contribution of Intellectual Disability–Related Genes to ADHD Risk and to Locomotor Activity in Drosophila

The American journal of psychiatry, 2020-06, Vol.177 (6), p.526-536

2020

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Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome

American journal of human genetics, 2015-04, Vol.96 (4), p.623-630

2015

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De novo mutations in human genetic disease

Nature reviews. Genetics, 2012-08, Vol.13 (8), p.565-575

2012

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Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

Nature genetics, 2006-08, Vol.38 (8), p.917-920

2006

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Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

American journal of human genetics, 2006-09, Vol.79 (3), p.556-561

2006

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DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes

Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differences

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

Identification of rare de novo epigenetic variations in congenital disorders

Ciliary Dyneins and Dynein Related Ciliopathies

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

A text-mining analysis of the human phenome

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients

Mutations in MED12 Cause X-Linked Ohdo Syndrome

Contribution of Intellectual Disability–Related Genes to ADHD Risk and to Locomotor Activity in Drosophila

Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome

De novo mutations in human genetic disease

Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

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