Related references
Note: Only part of the references are listed.Database resources of the National Center for Biotechnology Information
Eric W. Sayers et al.
NUCLEIC ACIDS RESEARCH (2011)
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
David T. Miller et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
An Unbalanced Translocation between Chromosomes 2p and 6p Associated With Axenfeld-Rieger Anomaly Type 3, Hearing Loss, Developmental Delay, and Distinct Facial Dysmorphism
Feng Li et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
De novo rates and selection of large copy number variation
Andy Itsara et al.
GENOME RESEARCH (2010)
Detection of Clinically Relevant Exonic Copy-Number Changes by Array CGH
Philip M. Boone et al.
HUMAN MUTATION (2010)
The Mouse Homeobox Gene Gbx2 Is Required for the Development of Cholinergic Interneurons in the Striatum
Li Chen et al.
JOURNAL OF NEUROSCIENCE (2010)
Large, rare chromosomal deletions associated with severe early-onset obesity
Elena G. Bochukova et al.
NATURE (2010)
Origins and functional impact of copy number variation in the human genome
Donald F. Conrad et al.
NATURE (2010)
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
R. G. Walters et al.
NATURE (2010)
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
Nick Craddock et al.
NATURE (2010)
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Santhosh Girirajan et al.
NATURE GENETICS (2010)
Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease
Andy Itsara et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Helen V. Firth et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
Heather C. Mefford et al.
GENOME RESEARCH (2009)
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes
Kim D. Pruitt et al.
GENOME RESEARCH (2009)
Segmental duplications mediate novel, clinically relevant chromosome rearrangements
M. Katharine Rudd et al.
HUMAN MOLECULAR GENETICS (2009)
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
B. W. M. van Bon et al.
JOURNAL OF MEDICAL GENETICS (2009)
Mapping and sequencing of structural variation from eight human genomes (Reprinted from Nature, vol 453, pg 56-64, 2008)
Jeffrey M. Kidd et al.
NATURE GENETICS (2009)
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
Ingo Helbig et al.
NATURE GENETICS (2009)
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
Steven C. Greenway et al.
NATURE GENETICS (2009)
Altered gene expression in the superior temporal gyrus in schizophrenia
Nikola A. Bowden et al.
BMC GENOMICS (2008)
Rare chromosomal deletions and duplications increase risk of schizophrenia
Jennifer L. Stone et al.
NATURE (2008)
Large recurrent microdeletions associated with schizophrenia
Hreinn Stefansson et al.
NATURE (2008)
Evolutionary toggling of the MAPT 17q21.31 inversion region
Michael C. Zody et al.
NATURE GENETICS (2008)
Systematic assessment of copy number variant detection via genome-wide SNP genotyping
Gregory M. Cooper et al.
NATURE GENETICS (2008)
Integrated detection and population-genetic analysis of SNPs and copy number variation
Steven A. McCarroll et al.
NATURE GENETICS (2008)
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Heather C. Mefford et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
Tom Walsh et al.
SCIENCE (2008)
Worldwide human relationships inferred from genome-wide patterns of variation
Jun Z. Li et al.
SCIENCE (2008)
A genome-wide association study identifies protein quantitative trait loci (pQTLs)
David Melzer et al.
PLOS GENETICS (2008)
Mapping and sequencing of structural variation from eight human genomes
Jeffrey M. Kidd et al.
NATURE (2008)
Germline rates of de novo meiotic deletions and duplications causing several genomic disorders
Daniel J. Turner et al.
NATURE GENETICS (2008)
Recurrent reciprocal genomic Rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy
Heather C. Mefford et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
Paul R. Burton et al.
NATURE (2007)
Clinical report - De Novo trisomy 20p of paternal origin
Myriam Chaabouni et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Resolving the resolution of array CGH
Bradley P. Coe et al.
GENOMICS (2007)
Strong association of de novo copy number mutations with autism
Jonathan Sebat et al.
SCIENCE (2007)
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals
Javier Simon-Sanchez et al.
HUMAN MOLECULAR GENETICS (2007)
Global variation in copy number in the human genome
Richard Redon et al.
NATURE (2006)
A worldwide survey of haplotype variation and linkage disequilibrium in the human genome
Donald F. Conrad et al.
NATURE GENETICS (2006)
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
David A. Koolen et al.
NATURE GENETICS (2006)
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
Charles Shaw-Smith et al.
NATURE GENETICS (2006)
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients
Arvid Suls et al.
HUMAN MUTATION (2006)
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
Andrew J. Sharp et al.
NATURE GENETICS (2006)
High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts
J. W. Park et al.
JOURNAL OF MEDICAL GENETICS (2006)
Phenotypic predictors of response to Simvastatin therapy among African-Americans and Caucasians:: The Cholesterol and Pharmaeogenetics (CAP) Study
JA Simon et al.
AMERICAN JOURNAL OF CARDIOLOGY (2006)
Common deletion polymorphisms in the human genome
SA McCarroll et al.
NATURE GENETICS (2006)
Diagnostic genome profiling in mental retardation
BBA de Vries et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Comprehensive proteomic analysis of human par protein complexes reveals an interconnected protein network
M Brajenovic et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Striatal excitatory amino acid transporter transcript expression in schizophrenia, bipolar disorder, and major depressive disorder
RE McCullumsmith et al.
NEUROPSYCHOPHARMACOLOGY (2002)
Effect of statin therapy on C-reactive protein levels - The Pravastatin Inflammation/CRP Evaluation (PRINCE): A randomized trial and cohort study
MA Albert et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2001)
An hPer2 phosphorylation site mutation in familiar advanced sleep phase syndrome
KL Toh et al.
SCIENCE (2001)
Distal trisomy 2p and arachnodactyly
DJ Stalker et al.
JOURNAL OF MEDICAL GENETICS (2000)
Share Paper
