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Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

Brain (London, England : 1878), 2016-09, Vol.139 (Pt 9), p.2420-2430

2016

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Methods for Identifying Higher-Order Chromatin Structure

Annual review of genomics and human genetics, 2012-01, Vol.13 (1), p.59-82

2012

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Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria

PLoS genetics, 2013-10, Vol.9 (10), p.e1003823-e1003823

2013

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Large scale gene expression profiles of regenerating inner ear sensory epithelia

PloS one, 2007-06, Vol.2 (6), p.e525-e525

2007

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A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses

Genetics in medicine, 2019-10, Vol.21 (10), p.2199-2207

2019

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De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy

European journal of human genetics : EJHG, 2024-08, Vol.32 (8), p.912-919

2024

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Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions

Clinical genetics, 2020-02, Vol.97 (2), p.305-311

2020

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The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development

American journal of medical genetics. Part A, 2023-12, Vol.191 (12), p.2831-2836

2023

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Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2

Genetics in medicine, 2017-01, Vol.19 (1), p.13-19

2017

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Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Genetics in medicine, 2017-02, Vol.19 (2), p.224-235

2017

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Toward a Systems Biology of Mouse Inner Ear Organogenesis: Gene Expression Pathways, Patterns and Network Analysis

Genetics (Austin), 2007-09, Vol.177 (1), p.631-653

2007

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Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

Cell genomics, 2023-02, Vol.3 (2), p.100258-100258, Article 100258

2023

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Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Genetics in medicine, 2018-09, Vol.20 (9), p.1099-1102

2018

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Identification of direct downstream targets of Dlx5 during early inner ear development

Human molecular genetics, 2011-04, Vol.20 (7), p.1262-1273

2011

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Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

Clinical case reports, 2018-07, Vol.6 (7), p.1208-1213

2018

Volltextzugriff (PDF)

Diagnostic exome sequencing identifies GLI 2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

Clinical case reports, 2018-07, Vol.6 (7), p.1208-1213

2018

Volltextzugriff (PDF)

Novel Approaches to Studying the Genetic Basis of Cerebellar Development

Cerebellum (London, England), 2010-09, Vol.9 (3), p.272-283

2010

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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Genetics in medicine, 2020-03, Vol.22 (3), p.538-546

2020

Volltextzugriff (PDF)

A retrospective review of multiple findings in diagnostic exome sequencing: halF.A.re distinct and halF.A.re overlapping diagnoses

Genetics in medicine, 2019-10, Vol.21 (10), p.2199-2207

2019

Volltextzugriff (PDF)

Identification of direct downstream targets of DIx5 during early inner ear development

Human molecular genetics, 2011, Vol.20 (7), p.1262-1273

2011

Volltextzugriff (PDF)

The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development

American journal of medical genetics. Part A, 2023, Vol.191 (12), p.2831-2836

2023

Volltextzugriff (PDF)

Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

Clinical case reports, 2018, Vol.6 (7), p.1208-1213

2018

Volltextzugriff (PDF)

Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 ( Irf6 )

Nature genetics, 2006-11, Vol.38 (11), p.1335-1340

2006

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Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

American journal of medical genetics. Part A, 2013-07, Vol.161A (7), p.1523-1530

2013

Volltextzugriff (PDF)

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Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

Methods for Identifying Higher-Order Chromatin Structure

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria

Large scale gene expression profiles of regenerating inner ear sensory epithelia

A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses

De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy

Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions

The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Toward a Systems Biology of Mouse Inner Ear Organogenesis: Gene Expression Pathways, Patterns and Network Analysis

Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Identification of direct downstream targets of Dlx5 during early inner ear development

Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

Diagnostic exome sequencing identifies GLI 2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

Novel Approaches to Studying the Genetic Basis of Cerebellar Development

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

A retrospective review of multiple findings in diagnostic exome sequencing: halF.A.re distinct and halF.A.re overlapping diagnoses

Identification of direct downstream targets of DIx5 during early inner ear development

Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria: e1003823

The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development

Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 ( Irf6 )

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

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