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MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains

Human mutation, 2019-08, Vol.40 (8), p.1030-1038, Article humu.23798

2019

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The role of de novo mutations in adult-onset neurodegenerative disorders

Acta neuropathologica, 2019-02, Vol.137 (2), p.183-207

2019

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Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

American journal of human genetics, 2015-07, Vol.97 (1), p.67-74

2015

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Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

Human mutation, 2015-08, Vol.36 (8), p.815-822

2015

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Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

American journal of human genetics, 2011-03, Vol.88 (3), p.362-371

2011

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Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Nature neuroscience, 2016-09, Vol.19 (9), p.1194

2016

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Parent-of-origin-specific signatures of de novo mutations

Nature genetics, 2016-08, Vol.48 (8), p.935-939

2016

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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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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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Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing

Clinical chemistry (Baltimore, Md.), 2016-11, Vol.62 (11), p.1458-1464

2016

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Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

Genetics in medicine, 2017-06, Vol.19 (6), p.667-675

2017

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment

Scientific reports, 2017-04, Vol.7 (1), p.46105-46105, Article 46105

2017

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Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

American journal of human genetics, 2013-06, Vol.92 (6), p.946-954

2013

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ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

Proceedings of the National Academy of Sciences - PNAS, 2013-06, Vol.110 (24), p.9856-9861

2013

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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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Big data and innovative bioinformatics approaches in personalized genomic medicine

BIO Web of Conferences, 2021, Vol.41, p.1003

2021

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STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis

PloS one, 2011-12, Vol.6 (12), p.e29248-e29248

2011

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New insights into the generation and role of de novo mutations in health and disease

Genome Biology, 2016-11, Vol.17 (1), p.241-241, Article 241

2016

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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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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

American journal of human genetics, 2011-11, Vol.89 (5), p.634-643

2011

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Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis

Proceedings of the National Academy of Sciences - PNAS, 2014-04, Vol.111 (14), p.5343-5348

2014

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De novo mutations in human genetic disease

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

2012

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Cantú Syndrome Is Caused by Mutations in ABCC9

American journal of human genetics, 2012-06, Vol.90 (6), p.1094-1101

2012

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MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains

The role of de novo mutations in adult-onset neurodegenerative disorders

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Parent-of-origin-specific signatures of de novo mutations

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

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

Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Big data and innovative bioinformatics approaches in personalized genomic medicine

STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis

New insights into the generation and role of de novo mutations in health and disease

Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility

Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis

De novo mutations in human genetic disease

Cantú Syndrome Is Caused by Mutations in ABCC9

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