Identification of Copy Number Variants on Human Chromosome 22 in Patients with a Variety of Clinical Findings

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

Common recurrent microduplication syndromes: Diagnosis and management in clinical practice

(2010) Jonathan S. Berg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Human Genome Structural Variation Sequencing Resource Reveals Insights into Mutational Mechanisms

(2010) Jeffrey M. Kidd et al.   CELL

Genomic profile of copy number variants on the short arm of human chromosome 8

(2010) Shihui Yu et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Congenital Hypotonia in a Child With a De Novo 22q13 Monosomy and 2pter Duplication: A Clinical and Molecular Genetic Study

(2010) Antonio Trabacca et al.   JOURNAL OF CHILD NEUROLOGY

Validation of the Agilent 244K Oligonucleotide Array–Based Comparative Genomic Hybridization Platform for Clinical Cytogenetic Diagnosis

(2009) Shihui Yu et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Further case of Rubinstein-Taybi syndrome due to a deletion in EP300

(2009) Patricia Foley et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor

(2009) Lucie Lafay-Cousin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

(2009) Audrey Guilmatre et al.   ARCHIVES OF GENERAL PSYCHIATRY

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

(2009) Luis Fernández et al.   BMC Medical Genetics

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

(2009) Anna Brunet et al.   BMC Medical Genetics

Duplication hotspots, rare genomic disorders, and common disease

(2009) Heather C Mefford et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Benign and pathogenic copy number variation on the short arm of chromosome 4

(2009) F. Hannes et al.   CYTOGENETIC AND GENOME RESEARCH

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

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

Microduplication 22q11.2: A new chromosomal syndrome

(2009) Marie-France Portnoï   European Journal of Medical Genetics

Quantitative Real-Time Polymerase Chain Reaction for the Verification of Genomic Imbalances Detected by Microarray-Based Comparative Genomic Hybridization

(2009) Shihui Yu et al.   Genetic Testing and Molecular Biomarkers

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

(2009) J. Coppinger et al.   HUMAN MOLECULAR GENETICS

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

MAP'ing CNS Development and Cognition: An ERKsome Process

(2009) Ivy S. Samuels et al.   NEURON

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

(2008) Shay Ben-Shachar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

(2008) Valérie Bélien et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel de novo SHANK3 mutation in autistic patients

(2008) Julie Gauthier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

PRODH variants and risk for schizophrenia

(2008) Alecia Willis et al.   AMINO ACIDS

Deletion 22q13.3 syndrome

(2008) Mary C Phelan   Orphanet Journal of Rare Diseases

Small Deletion Variants Have Stable Breakpoints Commonly Associated with Alu Elements

(2008) Adam J. de Smith et al.   PLoS One

Finishing the finished human chromosome 22 sequence

(2008) Charlotte G Cole et al.   GENOME BIOLOGY