Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease

Mutations inRSPH1Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype

(2014) Michael R. Knowles et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Gene Expression in Relation to Exhaled Nitric Oxide Identifies Novel Asthma Phenotypes with Unique Biomolecular Pathways

(2014) Brian D. Modena et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis

(2014) K. Zhang et al.   BLOOD

Recent advances in primary ciliary dyskinesia genetics

(2014) Małgorzata Kurkowiak et al.   JOURNAL OF MEDICAL GENETICS

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

(2014) Martin Kircher et al.   NATURE GENETICS

Abnormal Nasal Nitric Oxide Production, Ciliary Beat Frequency, and Toll-like Receptor Response in Pulmonary Nontuberculous Mycobacterial Disease Epithelium

(2013) Cedar J. Fowler et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

A Familial Syndrome of Pulmonary Nontuberculous Mycobacteria Infections

(2013) Janice M. Leung et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency

(2013) A. Drewniak et al.   BLOOD

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome

(2013) Gulbu Uzel et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

CARD9 mutations linked to subcutaneous phaeohyphomycosis and TH17 cell deficiencies

(2013) Xiaowen Wang et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Digenic inheritance in medical genetics

(2013) Alejandro A Schäffer   JOURNAL OF MEDICAL GENETICS

Deep Dermatophytosis and Inherited CARD9 Deficiency

(2013) Fanny Lanternier et al.   NEW ENGLAND JOURNAL OF MEDICINE

Underlying Host Risk Factors for Nontuberculous Mycobacterial Lung Disease

(2013) Michael Iseman et al.   SEMINARS IN RESPIRATORY AND CRITICAL CARE MEDICINE

Host Susceptibility or Environmental Exposure inMycobacterium aviumComplex Lung Disease

(2012) Theodore K. Marras   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Environment or Host?

(2012) M. Ashworth Dirac et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Spatial Clusters of Nontuberculous Mycobacterial Lung Disease in the United States

(2012) Jennifer Adjemian et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Patients with Nontuberculous Mycobacterial Lung Disease Exhibit Unique Body and Immune Phenotypes

(2012) Marinka Kartalija et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer

(2012) Jamie K. Teer et al.   BIOINFORMATICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Novel insights into the innate immune response to non-tuberculous Mycobacteria

(2011) Leonhard X Heinz et al.   IMMUNOLOGY AND CELL BIOLOGY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

IRF8Mutations and Human Dendritic-Cell Immunodeficiency

(2011) Sophie Hambleton et al.   NEW ENGLAND JOURNAL OF MEDICINE

The adaptor molecule CARD9 is essential for tuberculosis control

(2010) Anca Dorhoi et al.   JOURNAL OF EXPERIMENTAL MEDICINE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

A HomozygousCARD9Mutation in a Family with Susceptibility to Fungal Infections

(2009) Erik-Oliver Glocker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Pulmonary Nontuberculous Mycobacterial Disease

(2008) Richard D. Kim et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature

(2008) Bert L. Callewaert et al.   HUMAN MUTATION

The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases

(2008) Saleh Al-Muhsen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY