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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: Mar 28, 2024
. (Total: 63390 Documents since 2012)
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Copy number variants[original query]>>Original Studies[Product Type]
Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.
Joie O Olayiwola et al. Mol Genet Genomic Med 2024 e2349
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Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.
E Westenius et al. Ultrasound Obstet Gynecol 2024
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Identification of pathogenic genetic variants in patients with acquired early-onset bilateral cataracts using next-generation sequencing.
Jamie C Fox et al. J AAPOS 2024
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The role of copy number variants in the genetic architecture of common familial epilepsies.
et al. Epilepsia 2023
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Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.
Elena Bacchelli et al. Res Sq 2023
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Genetic testing of Behçet's disease using next-generation sequencing to identify monogenic mimics and HLA-B*51.
Alice Burleigh et al. Rheumatology (Oxford) 2023
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Clinical Utility of Proband Only Clinical Exome Sequencing in Neurodevelopmental Disorders.
Karthika Ajit Valaparambil et al. Indian J Pediatr 2023
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The translation of psychiatric genetic findings to the clinic.
Kimberley Marie Kendall et al. Schizophr Res 2023
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Prevalence of high-penetrant copy number variants in 7,734 low-risk pregnancies.
Lena Sagi-Dain et al. Am J Obstet Gynecol MFM 2023 101201
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A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.
Benjamin J Landis et al. J Am Heart Assoc 2023 e029340
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Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay.
Jing Wang et al. Orphanet J Rare Dis 2023 18(1) 278
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Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Chelsea Lowther et al. Am J Hum Genet 2023
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Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.
Dervla M Connaughton et al. J Mol Med (Berl) 2023
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Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Hyun Yong Koh et al. JAMA Netw Open 2023 6(7) e2324380
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Development and multicenter case-control validation of urinary comprehensive genomic profiling for urothelial carcinoma diagnosis, surveillance, and risk prediction.
Keyan Salari et al. Clin Cancer Res 2023
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Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
Katherine E Bonini et al. Clin Genet 2023
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Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray.
Erica Soster et al. Mol Cytogenet 2023 16(1) 10
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Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.
Jean-Marie Ravel et al. Genome Med 2023 15(1) 39
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Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Noura S Abul-Husn et al. Genet Med 2023 100880
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Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.
Ana Karen Sandoval-Talamantes et al. Genes (Basel) 2023 14(4)
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The Glioma-IRE project - Molecular profiling in patients with glioma: steps toward an individualized diagnostic and therapeutic approach.
Veronica Villani et al. Journal of translational medicine 2023 21(1) 215
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Prenatal Genetic Diagnosis of Fetal Cystic Hygroma: A Retrospective Single-Center Study from China.
Yulin Zhou et al. Cytogenetic and genome research 2023 1-11
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Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.
Emily L Griffin et al. Circulation. Genomic and precision medicine 2023 e003791
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Germline pathogenic variants in 786 neuroblastoma patients.
Jung Kim et al. medRxiv : the preprint server for health sciences 2023
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Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies
M Pennings et al, EJHG, February 13, 2023
The uncertainty of copy number variants: pregnancy decisions and clinical follow up.
Panlai Shi et al. American journal of obstetrics and gynecology 2023
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Frequent copy number variants in a cohort of Mexican-Mestizo individuals.
Sánchez Silvia et al. Molecular cytogenetics 2023 16(1) 2
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Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma Jing et al. Human genomics 2023 17(1) 1
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Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.
Taylor Cora M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 25(1) 151-154
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The Value of a Comprehensive Genomic Evaluation in Prenatal Diagnosis of Genetic Diseases: A Retrospective Study.
Fu Fang et al. Genes 2022 13(12)
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Page last reviewed:
Feb 1, 2024
Page last updated:
Mar 28, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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