Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations

An Excess of Risk-Increasing Low-Frequency Variants Can Be a Signal of Polygenic Inheritance in Complex Diseases

(2014) Yingleong Chan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome

(2014) Maude Schneider et al.   AMERICAN JOURNAL OF PSYCHIATRY

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

(2014) Jean-Laurent Casanova et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Clinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome

(2014) Caterina Cancrini et al.   JOURNAL OF PEDIATRICS

Association of COMT and PRODH gene variants with intelligence quotient (IQ) and executive functions in 22q11.2DS subjects

(2014) Miri Carmel et al.   JOURNAL OF PSYCHIATRIC RESEARCH

Identification of novel significant variants of ZFPM2/FOG2 in non-syndromic tetralogy of fallot and double outlet right ventricle in a Chinese Han population

(2014) Xiaomin Huang et al.   MOLECULAR BIOLOGY REPORTS

Common polygenic variation and risk for childhood-onset schizophrenia

(2014) K Ahn et al.   MOLECULAR PSYCHIATRY

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

p53 suppression partially rescues the mutant phenotype in mouse models of DiGeorge syndrome

(2014) Cinzia Caprio et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes

(2014) Petya D. Radoeva et al.   PSYCHIATRIC GENETICS

Genetic modifiers and subtypes in schizophrenia: Investigations of age at onset, severity, sex and family history

(2014) Sarah E. Bergen et al.   SCHIZOPHRENIA RESEARCH

GATA-dependent regulatory switches establish atrioventricular canal specificity during heart development

(2014) Sonia Stefanovic et al.   Nature Communications

The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors

(2014) Zubin H. Patel et al.   Frontiers in Genetics

Immunological features of 22q11 deletion syndrome

(2013) Andrew R. Gennery   CURRENT OPINION IN PEDIATRICS

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

Building a Genome Analysis Pipeline to Predict Disease Risk and Prevent Disease

(2013) Y. Bromberg   JOURNAL OF MOLECULAR BIOLOGY

The genetics of juvenile idiopathic arthritis: current understanding and future prospects

(2013) J. E. Cobb et al.   RHEUMATOLOGY

Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics

(2013) Ekta Khurana et al.   SCIENCE

Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes

(2012) Mingfu Zhu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Snakemake--a scalable bioinformatics workflow engine

(2012) J. Koster et al.   BIOINFORMATICS

Integrative genomics in cardiovascular medicine

(2012) J. S. Ware et al.   CARDIOVASCULAR RESEARCH

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

(2012) A. Genin et al.   HUMAN MOLECULAR GENETICS

The novel synaptogenic protein Farp1 links postsynaptic cytoskeletal dynamics and transsynaptic organization

(2012) Lucas Cheadle et al.   JOURNAL OF CELL BIOLOGY

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

(2012) Donna M McDonald-McGinn et al.   JOURNAL OF MEDICAL GENETICS

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

(2012)   NATURE

Characterization of In Vivo Dlg1 Deletion on T Cell Development and Function

(2012) Lisa A. Humphries et al.   PLoS One

Scaffold protein Disc large homolog 1 is required for T-cell receptor-induced activation of regulatory T-cell function

(2012) A. Zanin-Zhorov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Association of COMT genotypes with S-COMT promoter methylation in growth-discordant monozygotic twins and healthy adults

(2011) Felix Schreiner et al.   BMC Medical Genetics

NovelZFPM2/FOG2variants in patients with double outlet right ventricle

(2011) Z-P Tan et al.   CLINICAL GENETICS

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

(2011) A. Abyzov et al.   GENOME RESEARCH

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients

(2011) Tingwei Guo et al.   HUMAN MUTATION

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

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

(2011) Mark A DePristo et al.   NATURE GENETICS

The Genetic Variation of RELN Expression in Schizophrenia and Bipolar Disorder

(2011) Galit Ovadia et al.   PLoS One

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle

(2010) A De Luca et al.   CLINICAL GENETICS

Activity-dependent neuroprotective protein (ADNP) expression level is correlated with the expression of the sister protein ADNP2: Deregulation in schizophrenia

(2010) Efrat Dresner et al.   EUROPEAN NEUROPSYCHOPHARMACOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

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

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

The meaning of clinical remission in polyarticular juvenile idiopathic arthritis: Gene expression profiling in peripheral blood mononuclear cells identifies distinct disease states

(2009) Nicholas Knowlton et al.   ARTHRITIS AND RHEUMATISM

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

Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH

(2009) D.C. Bittel et al.   CYTOGENETIC AND GENOME RESEARCH

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

(2009) Ken Chen et al.   NATURE METHODS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Evidence for a possible association of neurotrophin receptor (NTRK-3) gene polymorphisms with hippocampal function and schizophrenia

(2009) Mona K. Otnæss et al.   NEUROBIOLOGY OF DISEASE

ToppGene Suite for gene list enrichment analysis and candidate gene prioritization

(2009) J. Chen et al.   NUCLEIC ACIDS RESEARCH

Tetralogy of Fallot: Yesterday and Today

(2009) Joanne P. Starr   WORLD JOURNAL OF SURGERY

Association between Catechol O-methyltransferase (COMT) haplotypes and severity of hyperactivity symptoms in Adults

(2008) H. Halleland et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

WNT signaling promotes Nkx2.5 expression and early cardiomyogenesis via downregulation of Hdac1

(2008) Zhiqiang Liu et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Identification of downstream genetic pathways of Tbx1 in the second heart field

(2008) Jun Liao et al.   DEVELOPMENTAL BIOLOGY

Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome

(2008) Sarah E. Prasad et al.   Developmental Disabilities Research Reviews

Silencing of the ADNP-family member, ADNP2, results in changes in cellular viability under oxidative stress

(2008) Michal Kushnir et al.   JOURNAL OF NEUROCHEMISTRY

Touchdown PCR for increased specificity and sensitivity in PCR amplification

(2008) Darren J Korbie et al.   Nature Protocols

Histone deactylase 1 expression is increased in the prefrontal cortex of schizophrenia subjects: Analysis of the National Brain Databank microarray collection

(2007) Rajiv P. Sharma et al.   SCHIZOPHRENIA RESEARCH