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Duplication of GTF2I Results in Separation Anxiety in Mice and Humans

American journal of human genetics, 2012-06, Vol.90 (6), p.1064-1070

2012

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Topoisomerase II beta interacts with cohesin and CTCF at topological domain borders

Genome Biology, 2016-08, Vol.17 (1), p.182-182, Article 182

2016

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BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma

Journal of clinical oncology, 2015-03, Vol.33 (9), p.1015-1022

2015

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A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder

Genetics in medicine, 2017-11, Vol.19 (11), p.1268-1275

2017

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Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings

The journal of clinical endocrinology and metabolism, 2021-10, Vol.106 (10), p.2915-2937

2021

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A large data resource of genomic copy number variation across neurodevelopmental disorders

Npj genomic medicine, 2019-10, Vol.4 (1), p.26-13, Article 26

2019

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MACE: model based analysis of ChIP-exo

Nucleic acids research, 2014-11, Vol.42 (20), p.e156

2014

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Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus

The New England journal of medicine, 2005-10, Vol.353 (16), p.1694-1701

2005

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Mutations in NHLRC1 cause progressive myoclonus epilepsy

Nature genetics, 2003-10, Vol.35 (2), p.125-127

2003

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Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

American journal of human genetics, 2008-07, Vol.83 (1), p.106-111

2008

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Expanded repeat in canine epilepsy

Science (American Association for the Advancement of Science), 2005-01, Vol.307 (5706), p.81-81

2005

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Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus

The New England journal of medicine, 2005-10, Vol.353 (16), p.1694-1701

2005

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Enhanced prefrontal serotonin 5-HT1A currents in a mouse model of Williams-Beuren syndrome with low innate anxiety

Journal of neurodevelopmental disorders, 2010-06, Vol.2 (2), p.99-108

2010

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The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms

American journal of medical genetics. Part A, 2008-07, Vol.146A (14), p.1797-1806

2008

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Genomic architecture of autism from comprehensive whole-genome sequence annotation

Cell, 2022-11, Vol.185 (23), p.4409-4427.e18

2022

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Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy

Human mutation, 2004-02, Vol.23 (2), p.170-176

2004

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Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase

Annals of neurology, 2001-02, Vol.49 (2), p.271-275

2001

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Enhanced prefrontal serotonin 5-HT(1A) currents in a mouse model of Williams-Beuren syndrome with low innate anxiety

Journal of neurodevelopmental disorders, 2010-06, Vol.2 (2), p.99

2010

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Dietary mineral supplies in Africa

Physiologia plantarum, 2014-07, Vol.151 (3), p.208-229

2014

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MLKL trafficking and accumulation at the plasma membrane control the kinetics and threshold for necroptosis

Nature communications, 2020-06, Vol.11 (1), p.3151-3151, Article 3151

2020

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Long-term follow-up after gene therapy for canavan disease

Science translational medicine, 2012-12, Vol.4 (165), p.165ra163

2012

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Cancer-Associated Fibroblasts Induce a Collagen Cross-link Switch in Tumor Stroma

Molecular cancer research, 2016-03, Vol.14 (3), p.287-295

2016

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Significant Spirometric Transitions and Preserved Ratio Impaired Spirometry Among Ever Smokers

Chest, 2022-03, Vol.161 (3), p.651-661

2022

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A toolbox for imaging RIPK1, RIPK3, and MLKL in mouse and human cells

Cell death and differentiation, 2021-07, Vol.28 (7), p.2126-2144

2021

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Duplication of GTF2I Results in Separation Anxiety in Mice and Humans

Topoisomerase II beta interacts with cohesin and CTCF at topological domain borders

BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma

A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder

Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings

A large data resource of genomic copy number variation across neurodevelopmental disorders

MACE: model based analysis of ChIP-exo

Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus

Mutations in NHLRC1 cause progressive myoclonus epilepsy

Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

Expanded repeat in canine epilepsy

Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus

Enhanced prefrontal serotonin 5-HT1A currents in a mouse model of Williams-Beuren syndrome with low innate anxiety

The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms

Genomic architecture of autism from comprehensive whole-genome sequence annotation

Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy

Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase

Enhanced prefrontal serotonin 5-HT(1A) currents in a mouse model of Williams-Beuren syndrome with low innate anxiety

Dietary mineral supplies in Africa

MLKL trafficking and accumulation at the plasma membrane control the kinetics and threshold for necroptosis

Tenofovir alafenamide versus tenofovir disoproxil fumarate, coformulated with elvitegravir, cobicistat, and emtricitabine, for initial treatment of HIV-1 infection: two randomised, double-blind, phase 3, non-inferiority trials

Long-term follow-up after gene therapy for canavan disease

Cancer-Associated Fibroblasts Induce a Collagen Cross-link Switch in Tumor Stroma

Significant Spirometric Transitions and Preserved Ratio Impaired Spirometry Among Ever Smokers

A toolbox for imaging RIPK1, RIPK3, and MLKL in mouse and human cells

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