Rescue of recurrent deep intronic mutation underlying cell type–dependent quantitative NEMO deficiency

IKBKG (NEMO) 5′ Untranslated Splice Mutations Lead to Severe, Chronic Disseminated Mycobacterial Infections

(2018) Amy P Hsu et al.   CLINICAL INFECTIOUS DISEASES

Conventional and Single-Molecule Targeted Sequencing Method for Specific Variant Detection in IKBKG while Bypassing the IKBKGP1 Pseudogene

(2018) Glynis Frans et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Deep intronic mutations and human disease

(2017) Rita Vaz-Drago et al.   HUMAN GENETICS

Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia

(2017) Glynis Frans et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency

(2017) Bertrand Boisson et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

(2017) Arif O. Khan et al.   Scientific Reports

Alternative splicing modulated by genetic variants demonstrates accelerated evolution regulated by highly conserved proteins

(2016) Yun-Hua Esther Hsiao et al.   GENOME RESEARCH

Ectodermal dysplasia with immunodeficiency caused by a branch-point mutation in IKBKG/NEMO

(2016) Sofie E. Jørgensen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Exome and genome sequencing for inborn errors of immunity

(2016) Isabelle Meyts et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

(2016) Monkol Lek et al.   NATURE

A human inborn error connects the α's

(2016) Isabelle Meyts et al.   NATURE IMMUNOLOGY

DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis

(2016) Petro Starokadomskyy et al.   NATURE IMMUNOLOGY

The mutation significance cutoff: gene-level thresholds for variant predictions

(2016) Yuval Itan et al.   NATURE METHODS

Coming of age: ten years of next-generation sequencing technologies

(2016) Sara Goodwin et al.   NATURE REVIEWS GENETICS

Deep sequencing of 10,000 human genomes

(2016) Amalio Telenti et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RNA splicing is a primary link between genetic variation and disease

(2016) Yang I. Li et al.   SCIENCE

Modulation of Alternative Splicing with Chemical Compounds in New Therapeutics for Human Diseases

(2015) Kenji Ohe et al.   ACS Chemical Biology

Deciphering targeting rules of splicing modulator compounds: case of TG003

(2015) Maki Sakuma et al.   BMC MOLECULAR BIOLOGY

EDA-ID and IP, Two Faces of the Same Coin: How the SameIKBKG/NEMOMutation Affecting the NF-κB Pathway Can Cause Immunodeficiency and/or Inflammation

(2015) Francesca Fusco et al.   INTERNATIONAL REVIEWS OF IMMUNOLOGY

Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA

(2015) Alison Joanne Lee et al.   JOURNAL OF CLINICAL IMMUNOLOGY

An integrated map of structural variation in 2,504 human genomes

(2015) Peter H. Sudmant et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The human gene damage index as a gene-level approach to prioritizing exome variants

(2015) Yuval Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia

(2015) Mayumi Yoshida et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

(2015) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2014) Martin Kircher et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Context-dependent control of alternative splicing by RNA-binding proteins

(2014) Xiang-Dong Fu et al.   NATURE REVIEWS GENETICS

The human splicing code reveals new insights into the genetic determinants of disease

(2014) H. Y. Xiong et al.   SCIENCE

Phase I Pharmacokinetic and Pharmacodynamic Study of the First-in-Class Spliceosome Inhibitor E7107 in Patients with Advanced Solid Tumors

(2013) F. A. L. M. Eskens et al.   CLINICAL CANCER RESEARCH

Insight intoIKBKG/NEMOLocus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

(2013) Matilde Immacolata Conte et al.   HUMAN MUTATION

A phase I, open-label, single-arm, dose-escalation study of E7107, a precursor messenger ribonucleic acid (pre-mRNA) splicesome inhibitor administered intravenously on days 1 and 8 every 21 days to patients with solid tumors

(2013) D. S. Hong et al.   INVESTIGATIONAL NEW DRUGS

NF- B, the first quarter-century: remarkable progress and outstanding questions

(2012) M. S. Hayden et al.   GENES & DEVELOPMENT

Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis

(2012) Piotr Dittwald et al.   HUMAN MUTATION

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

(2011) M. Hubeau et al.   BLOOD

The anti-tumor drug E7107 reveals an essential role for SF3b in remodeling U2 snRNP to expose the branch point-binding region

(2011) E. G. Folco et al.   GENES & DEVELOPMENT

Decreased Expression in Nuclear Factor-κB Essential Modulator Due to a Novel Splice-Site Mutation Causes X-linked Ectodermal Dysplasia with Immunodeficiency

(2011) Shuhei Karakawa et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Successful Treatment with Infliximab for Inflammatory Colitis in a Patient with X-linked Anhidrotic Ectodermal Dysplasia with Immunodeficiency

(2011) Tomoyuki Mizukami et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Repetitive DNA and next-generation sequencing: computational challenges and solutions

(2011) Todd J. Treangen et al.   NATURE REVIEWS GENETICS

Chemical treatment enhances skipping of a mutated exon in the dystrophin gene

(2011) Atsushi Nishida et al.   Nature Communications

Hypohidrotic Ectodermal Dysplasia and Immunodeficiency with Coincident NEMO and EDA Mutations

(2011) Michael D. Keller et al.   Frontiers in Immunology

Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology

(2010) J. Gautheron et al.   HUMAN MOLECULAR GENETICS

Immune deficiency caused by impaired expression of nuclear factor-κB essential modifier (NEMO) because of a mutation in the 5′ untranslated region of the NEMO gene

(2010) Jana L. Mooster et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

NEMO Gene Mutations in Chinese Patients With Incontinentia Pigmenti

(2010) Pa-Fan Hsiao et al.   JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION

Genomic disorders: A window into human gene and genome evolution

(2010) C. M. B. Carvalho et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ectodermal dysplasias: Clinical and molecular review

(2009) Átila F. Visinoni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microdeletion/duplication at the Xq28 IPlocuscauses a de novoIKBKG/NEMO/IKKgammaexon4_10 deletion in families with incontinentia pigmenti

(2009) Fusco Francesca et al.   HUMAN MUTATION

The NF- B Family of Transcription Factors and Its Regulation

(2009) A. Oeckinghaus et al.   Cold Spring Harbor Perspectives in Biology

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations

(2008) Francesca Fusco et al.   HUMAN MUTATION

Hypomorphic nuclear factor-κB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity

(2008) Eric P. Hanson et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Human branch point consensus sequence is yUnAy

(2008) Kaiping Gao et al.   NUCLEIC ACIDS RESEARCH