Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an aetiological role for autophagy

Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits

(2018) Malika Kumar Freund et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2

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Genetic architecture: the shape of the genetic contribution to human traits and disease

(2017) Nicholas J. Timpson et al.   NATURE REVIEWS GENETICS

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

(2017) Esther Lopez-Rivera et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical features ofSMARCA2duplication overlap with Coffin-Siris syndrome

(2016) Noriko Miyake et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development

(2016) Bálint Mészáros et al.   Biology Direct

ATRX binds to atypical chromatin domains at the 3′ exons of zinc finger genes to preserve H3K9me3 enrichment

(2016) David Valle-García et al.   Epigenetics

Treatment of an alopecia areata patient with tofacitinib results in regrowth of hair and changes in serum and skin biomarkers

(2016) Ali Jabbari et al.   EXPERIMENTAL DERMATOLOGY

Bok is a genuine multi-BH-domain protein that triggers apoptosis in the absence of Bax and Bak

(2016) Stephanie Einsele-Scholz et al.   JOURNAL OF CELL SCIENCE

CXCR3 Blockade Inhibits T Cell Migration into the Skin and Prevents Development of Alopecia Areata

(2016) Zhenpeng Dai et al.   JOURNAL OF IMMUNOLOGY

Functional Interpretation of Genome-Wide Association Study Evidence in Alopecia Areata

(2016) Lynn Petukhova et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Identification of Individual Cancer-Specific Somatic Mutations for Neoantigen-Based Immunotherapy of Lung Cancer

(2016) Takahiro Karasaki et al.   Journal of Thoracic Oncology

Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci

(2016) Chunyu Liu et al.   NATURE GENETICS

Methyl-CpG-binding protein MBD2 plays a key role in maintenance and spread of DNA methylation at CpG islands and shores in cancer

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Molecular signatures define alopecia areata subtypes and transcriptional biomarkers

(2016) Ali Jabbari et al.   EBioMedicine

Concordance between somatic copy number loss and down-regulated expression: A pan-cancer study of cancer predisposition genes

(2016) Ran Wei et al.   Scientific Reports

G1/S Inhibitors and the SWI/SNF Complex Control Cell-Cycle Exit during Muscle Differentiation

(2015) Suzan Ruijtenberg et al.   CELL

The effect of 5-fluorouracil/leucovorin chemotherapy on CpG methylation, or the confounding role of leukocyte heterogeneity: An illustration

(2015) Mathieu Lemire et al.   GENOMICS

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

(2015) Nuria C. Bramswig et al.   HUMAN GENETICS

ATG4B (Autophagin-1) Phosphorylation Modulates Autophagy

(2015) Zhifen Yang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genomic imbalances in pediatric patients with chronic kidney disease

(2015) Miguel Verbitsky et al.   JOURNAL OF CLINICAL INVESTIGATION

Autophagy in autoimmune disease

(2015) Zhen Yang et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney

(2015) Rik Westland et al.   KIDNEY INTERNATIONAL

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

(2015) Jimmy Z Liu et al.   NATURE GENETICS

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

(2015) Lars G Fritsche et al.   NATURE GENETICS

Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci

(2015) Regina C. Betz et al.   Nature Communications

Pooled Sequencing of 531 Genes in Inflammatory Bowel Disease Identifies an Associated Rare Variant in BTNL2 and Implicates Other Immune Related Genes

(2015) Natalie J. Prescott et al.   PLoS Genetics

Phenotype and genotype in Nicolaides-Baraitser syndrome

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The core autophagy protein ATG4B is a potential biomarker and therapeutic target in CML stem/progenitor cells

(2014) K. Rothe et al.   BLOOD

Residual Complexes Containing SMARCA2 (BRM) Underlie the Oncogenic Drive of SMARCA4 (BRG1) Mutation

(2014) B. G. Wilson et al.   MOLECULAR AND CELLULAR BIOLOGY

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition

(2014) Luzhou Xing et al.   NATURE MEDICINE

Functional epigenetics approach identifies BRM/SMARCA2 as a critical synthetic lethal target in BRG1-deficient cancers

(2014) G. R. Hoffman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ATG4B/autophagin-1 regulates intestinal homeostasis and protects mice from experimental colitis

(2013) Sandra Cabrera et al.   Autophagy

Placental autophagy regulation by the BOK-MCL1 rheostat

(2013) Manpreet Kalkat et al.   Autophagy

A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk

(2013) David R. Blair et al.   CELL

Lifetime Incidence Risk of Alopecia Areata Estimated at 2.1% by Rochester Epidemiology Project, 1990–2009

(2013) Sultan A. Mirzoyev et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array

(2013) Rosalind A Eeles et al.   NATURE GENETICS

Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy

(2013) Cigall Kadoch et al.   NATURE GENETICS

Validating therapeutic targets through human genetics

(2013) Robert M. Plenge et al.   NATURE REVIEWS DRUG DISCOVERY

NCBI’s Database of Genotypes and Phenotypes: dbGaP

(2013) Kimberly A. Tryka et al.   NUCLEIC ACIDS RESEARCH

The Spectrum of SWI/SNF Mutations, Ubiquitous in Human Cancers

(2013) A. Hunter Shain et al.   PLoS One

Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

(2012) Simone Sanna-Cherchi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defining the genomic signature of the parous breast

(2012) Suraj Peri et al.   BMC Medical Genomics

Effect of a Monoclonal Antibody to PCSK9 on Low-Density Lipoprotein Cholesterol Levels in Statin-Intolerant Patients

(2012) David Sullivan et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

(2012) Jeroen K J Van Houdt et al.   NATURE GENETICS

Clan Genomics and the Complex Architecture of Human Disease

(2011) James R. Lupski et al.   CELL

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Reengineering Translational Science: The Time Is Right

(2011) F. S. Collins   Science Translational Medicine

Autophagy is essential for mouse sense of balance

(2010) Guillermo Mariño et al.   JOURNAL OF CLINICAL INVESTIGATION

Genome-wide association study in alopecia areata implicates both innate and adaptive immunity

(2010) Lynn Petukhova et al.   NATURE

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

(2010)   NATURE

Dosage Sensitivity Shapes the Evolution of Copy-Number Varied Regions

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Histopathological and Neurological Features of Atg4b Knockout Mice

(2010) R. Read et al.   VETERINARY PATHOLOGY

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autophagy: Regulation and role in disease

(2009) Alfred J. Meijer et al.   CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES

The structure of Atg4B–LC3 complex reveals the mechanism of LC3 processing and delipidation during autophagy

(2009) Kenji Satoo et al.   EMBO JOURNAL

Copy number variants, diseases and gene expression

(2009) C. N. Henrichsen et al.   HUMAN MOLECULAR GENETICS

Time-Course Expression Profiles of Hair Cycle-Associated Genes in Male Mini Rats after Depilation of Telogen-Phase Hairs

(2009) Aya Umeda-Ikawa et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The impact of copy number variation on local gene expression in mouse hematopoietic stem and progenitor cells

(2009) Patrick Cahan et al.   NATURE GENETICS

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

(2009) Steven C Greenway et al.   NATURE GENETICS

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

(2008) Steven A McCarroll et al.   NATURE GENETICS