A potential founder variant inCARMIL2/RLTPRin three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

(2017) Asbjørg Stray-Pedersen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector

(2016) Magnus D. Vigeland et al.   BIOINFORMATICS

cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data

(2016) Pubudu Saneth Samarakoon et al.   BMC GENOMICS

The Phyre2 web portal for protein modeling, prediction and analysis

(2015) Lawrence A Kelley et al.   Nature Protocols

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

Secondary findings and carrier test frequencies in a large multiethnic sample

(2015) Tomasz Gambin et al.   Genome Medicine

Identification of copy number variants from exome sequence data

(2014) Pubudu Samarakoon et al.   BMC GENOMICS

Capping protein regulators fine-tune actin assembly dynamics

(2014) Marc Edwards et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease

(2014) Janan T. Eppig et al.   NUCLEIC ACIDS RESEARCH

UniProt: a hub for protein information

(2014)   NUCLEIC ACIDS RESEARCH

The lymphoid lineage–specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells

(2013) Yinming Liang et al.   NATURE IMMUNOLOGY

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

CARMIL leading edge localization depends on a non-canonical PH domain and dimerization

(2013) Adam Zwolak et al.   Nature Communications

An integrative variant analysis suite for whole exome next-generation sequencing data

(2012) Danny Challis et al.   BMC BIOINFORMATICS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Warts and all: Human papillomavirus in primary immunodeficiencies

(2012) Jennifer W. Leiding et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Whole-Genome Sequencing for Optimized Patient Management

(2011) M. N. Bainbridge et al.   Science Translational Medicine

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Fine-scale recombination rate differences between sexes, populations and individuals

(2010) Augustine Kong et al.   NATURE

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

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

(2009) A. M. Waterhouse et al.   BIOINFORMATICS

Distinct Roles for CARMIL Isoforms in Cell Migration

(2009) Yun Liang et al.   MOLECULAR BIOLOGY OF THE CELL

Hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis: a journey of a thousand miles begins with a single (big) step

(2008) M B Jordan et al.   BONE MARROW TRANSPLANTATION

The leucine-rich repeat structure

(2008) J. Bella et al.   CELLULAR AND MOLECULAR LIFE SCIENCES