Multiplexed Functional Assessment of Genetic Variants in CARD11

Massively parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity

(2020) Chase C. Suiter et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2

(2019) Charlotte A. Slade et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Germline CBM-opathies: From immunodeficiency to atopy

(2019) Henry Y. Lu et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Quality and quantity control of gene expression by nonsense-mediated mRNA decay

(2019) Tatsuaki Kurosaki et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Structures of autoinhibited and polymerized forms of CARD9 reveal mechanisms of CARD9 and CARD11 activation

(2019) Michael J. Holliday et al.   Nature Communications

Functional testing of thousands of osteoarthritis-associated variants for regulatory activity

(2019) Jason C. Klein et al.   Nature Communications

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

(2019) Amélie Pinard et al.   GENETICS IN MEDICINE

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

(2019) Sarah E. Brnich et al.   Genome Medicine

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

(2019) Hannah Gelman et al.   Genome Medicine

A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships

(2018) Taylor L. Mighell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11)

(2018) Harjit Dadi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation

(2018) Eran Kotler et al.   MOLECULAR CELL

Engineering Protein-Secreting Plasma Cells by Homology-Directed Repair in Primary Human B Cells

(2018) King L. Hung et al.   MOLECULAR THERAPY

Multiplex assessment of protein variant abundance by massively parallel sequencing

(2018) Kenneth A. Matreyek et al.   NATURE GENETICS

Assembly mechanism of the CARMA1–BCL10–MALT1–TRAF6 signalosome

(2018) Liron David et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

(2018) Batsukh Dorjbal et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Accurate classification of BRCA1 variants with saturation genome editing

(2018) Gregory M. Findlay et al.   NATURE

Mutational processes shape the landscape of TP53 mutations in human cancer

(2018) Andrew O. Giacomelli et al.   NATURE GENETICS

Molecular architecture and regulation of BCL10-MALT1 filaments

(2018) Florian Schlauderer et al.   Nature Communications

The CBM-opathies—A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex

(2018) Henry Y. Lu et al.   Frontiers in Immunology

Mechanisms of Regulated and Dysregulated CARD11 Signaling in Adaptive Immunity and Disease

(2018) Jacquelyn R. Bedsaul et al.   Frontiers in Immunology

STAT1 and STAT3 mutations: important lessons for clinical immunologists

(2018) Peter Olbrich et al.   Expert Review of Clinical Immunology

Optimized libraries for CRISPR-Cas9 genetic screens with multiple modalities

(2018) Kendall R. Sanson et al.   Nature Communications

Mechanisms of precise genome editing using oligonucleotide donors

(2017) Yinan Kan et al.   GENOME RESEARCH

Germline hypomorphic CARD11 mutations in severe atopic disease

(2017) Chi A Ma et al.   NATURE GENETICS

An extended set of yeast-based functional assays accurately identifies human disease mutations

(2016) Song Sun et al.   GENOME RESEARCH

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Enhancing homology-directed genome editing by catalytically active and inactive CRISPR-Cas9 using asymmetric donor DNA

(2016) Christopher D Richardson et al.   NATURE BIOTECHNOLOGY

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

(2015) Lea M. Starita et al.   GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The Ying and Yang of STAT3 in Human Disease

(2015) Tiphanie P. Vogel et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Targeting B cell receptor signaling with ibrutinib in diffuse large B cell lymphoma

(2015) Wyndham H Wilson et al.   NATURE MEDICINE

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

(2015) Lea M. Starita et al.   GENETICS

Saturation editing of genomic regions by multiplex homology-directed repair

(2014) Gregory M. Findlay et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Germline Mutations in NFKB2 Implicate the Noncanonical NF-κB Pathway in the Pathogenesis of Common Variable Immunodeficiency

(2013) Karin Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency

(2013) Johann Greil et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects

(2013) Polina Stepensky et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Structural Architecture of the CARMA1/Bcl10/MALT1 Signalosome: Nucleation-Induced Filamentous Assembly

(2013) Qi Qiao et al.   MOLECULAR CELL

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

A Quantitative Signaling Screen Identifies CARD11 Mutations in the CARD and LATCH Domains That Induce Bcl10 Ubiquitination and Human Lymphoma Cell Survival

(2012) W. Chan et al.   MOLECULAR AND CELLULAR BIOLOGY

Structural Insights into the Assembly of CARMA1 and BCL10

(2012) Siwei Li et al.   PLoS One

Quantitative analysis of cryo-EM density map segmentation by watershed and scale-space filtering, and fitting of structures by alignment to regions

(2010) Grigore D. Pintilie et al.   JOURNAL OF STRUCTURAL BIOLOGY

Chronic active B-cell-receptor signalling in diffuse large B-cell lymphoma

(2010) R. Eric Davis et al.   NATURE

High-resolution mapping of protein sequence-function relationships

(2010) Douglas M Fowler et al.   NATURE METHODS