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The microglial sensome revealed by direct RNA sequencing

Nature neuroscience, 2013-12, Vol.16 (12), p.1896-1905

2013

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Genome-wide Identification of Polycomb-Associated RNAs by RIP-seq

Molecular cell, 2010-12, Vol.40 (6), p.939-953

2010

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Genome-wide Chromatin Interactions of the Nanog Locus in Pluripotency, Differentiation, and Reprogramming

Cell stem cell, 2013-06, Vol.12 (6), p.699-712

2013

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Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA

Journal of allergy and clinical immunology, 2015-01, Vol.135 (1), p.217-227.e9

2015

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Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration

The Journal of experimental medicine, 2017-07, Vol.214 (7), p.1937-1947

2017

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Spreading of X chromosome inactivation via a hierarchy of defined Polycomb stations

Genome research, 2012-10, Vol.22 (10), p.1864-1876

2012

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Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

American journal of human genetics, 2011-04, Vol.88 (4), p.469-481

2011

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The CIP2A-TOPBP1 axis safeguards chromosome stability and is a synthetic lethal target for BRCA-mutated cancer

Nature cancer, 2021-12, Vol.2 (12), p.1357-1371

2021

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Functional analysis of the microtubule-interacting transcriptome

Molecular biology of the cell, 2011-11, Vol.22 (22), p.4312-4323

2011

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Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association

Journal of allergy and clinical immunology, 2016-03, Vol.137 (3), p.879-888.e2

2016

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A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function

Journal of allergy and clinical immunology, 2015-08, Vol.136 (2), p.479-482.e1

2015

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MUT-14 and SMUT-1 DEAD Box RNA Helicases Have Overlapping Roles in Germline RNAi and Endogenous siRNA Formation

Current biology, 2014-04, Vol.24 (8), p.839-844

2014

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Histone H3R2 Symmetric Dimethylation and Histone H3K4 Trimethylation Are Tightly Correlated in Eukaryotic Genomes

Cell reports (Cambridge), 2012-02, Vol.1 (2), p.83-90

2012

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Transposon activation mutagenesis as a screening tool for identifying resistance to cancer therapeutics

BMC cancer, 2013-02, Vol.13 (1), p.93-93, Article 93

2013

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Lessons in gene hunting: A RAG1 mutation presenting with agammaglobulinemia and absence of B cells

Journal of allergy and clinical immunology, 2014-10, Vol.134 (4), p.983-985.e1

2014

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Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

The New England journal of medicine, 2015-06, Vol.372 (25), p.2409-2422

2015

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Analysis of combinatorial CRISPR screens with the Orthrus scoring pipeline

Nature protocols, 2021-10, Vol.16 (10), p.4766-4798

2021

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Loss of the DNA Repair Gene RNase H2 Identifies a Unique Subset of DDR-Deficient Leiomyosarcomas

Molecular cancer therapeutics, 2024-07, Vol.23 (7), p.1057-1065

2024

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Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity

The Journal of clinical investigation, 2016-11, Vol.126 (11), p.4219-4236

2016

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Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies

Current opinion in allergy and clinical immunology, 2012-12, Vol.12 (6), p.623-628

2012

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Three-dimensional simulation of anisotropic cell-driven collagen gel compaction

Biomechanics and modeling in mechanobiology, 2008-02, Vol.7 (1), p.53-62

2008

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MolBioLib: a C++11 framework for rapid development and deployment of bioinformatics tasks

Bioinformatics (Oxford, England), 2012-10, Vol.28 (19), p.2412-2416

2012

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The microglial sensome revealed by direct RNA sequencing

Genome-wide Identification of Polycomb-Associated RNAs by RIP-seq

Genome-wide Chromatin Interactions of the Nanog Locus in Pluripotency, Differentiation, and Reprogramming

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration

Spreading of X chromosome inactivation via a hierarchy of defined Polycomb stations

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

The CIP2A-TOPBP1 axis safeguards chromosome stability and is a synthetic lethal target for BRCA-mutated cancer

Functional analysis of the microtubule-interacting transcriptome

Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association

A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function

MUT-14 and SMUT-1 DEAD Box RNA Helicases Have Overlapping Roles in Germline RNAi and Endogenous siRNA Formation

Histone H3R2 Symmetric Dimethylation and Histone H3K4 Trimethylation Are Tightly Correlated in Eukaryotic Genomes

Transposon activation mutagenesis as a screening tool for identifying resistance to cancer therapeutics

Lessons in gene hunting: A RAG1 mutation presenting with agammaglobulinemia and absence of B cells

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

Analysis of combinatorial CRISPR screens with the Orthrus scoring pipeline

Loss of the DNA Repair Gene RNase H2 Identifies a Unique Subset of DDR-Deficient Leiomyosarcomas

Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity

Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies

Three-dimensional simulation of anisotropic cell-driven collagen gel compaction

MolBioLib: a C++11 framework for rapid development and deployment of bioinformatics tasks

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