Related references
Note: Only part of the references are listed.Chromosomal microarray impacts clinical management
E. R. Riggs et al.
CLINICAL GENETICS (2014)
Phenotypic Variability of Atypical 22q11.2 Deletions Not Including TBX1
Judith M. A. Verhagen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Perinatal Detection of Familial Adenomatous Polyposis
Meredith L. Birsner et al.
OBSTETRICS AND GYNECOLOGY (2012)
Clinical Utility of Chromosomal Microarray Analysis
Jay W. Ellison et al.
PEDIATRICS (2012)
The clinical spectrum of complete FBN1 allele deletions
Yvonne Hilhorst-Hofstee et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Chromosomal microarray testing influences medical management
Michael E. Coulter et al.
GENETICS IN MEDICINE (2011)
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
Erin B. Kaminsky et al.
GENETICS IN MEDICINE (2011)
A copy number variation morbidity map of developmental delay
Gregory M. Cooper et al.
NATURE GENETICS (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)
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
Melanie Manning et al.
GENETICS IN MEDICINE (2010)
Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
Heather C. Mefford et al.
PLOS GENETICS (2010)
High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
Tamim H. Shaikh et al.
GENOME RESEARCH (2009)
Structural variation of chromosomes in autism spectrum disorder
Christian R. Marshall et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Consensus Statement on the Diagnosis and Treatment of Children with Idiopathic Short Stature: A Summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop
P. Cohen et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)
Copy-number variations associated with neuropsychiatric conditions
Edwin H. Cook et al.
NATURE (2008)
Large recurrent microdeletions associated with schizophrenia
Hreinn Stefansson et al.
NATURE (2008)
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
Charles Lee et al.
NATURE GENETICS (2007)
Strong association of de novo copy number mutations with autism
Jonathan Sebat et al.
SCIENCE (2007)
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
Anita Rauch et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
J. B. Ravnan et al.
JOURNAL OF MEDICAL GENETICS (2006)
Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome
J. Zhang et al.
CYTOGENETIC AND GENOME RESEARCH (2006)
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome
G Baujat et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Practice parameter: Evaluation of the child with global developmental delay - Report of the quality standards subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society
M Shevell et al.
NEUROLOGY (2003)
An 8-cM interstitial deletion on 4q21-q22 in DNA from an infant with hepatoblastoma overlaps with a commonly deleted region in adult liver cancers
Y Terada et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)