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Precision Health Database


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Reproductive and Child Health

Last data update: Feb 01, 2023. (Total: 52380 Documents since 2012)
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Query Trace: Birth Defects Or Congenital Anomalies[original query]>>Original Studies[Product Type]
Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development.
Safizadeh Shabestari Seyed Ali et al. Human genetics 2022
Analysis results of 579 cases of genomic copy number variation sequencing of pregnant women in prenatal diagnosis.
Huang L-L et al. European review for medical and pharmacological sciences 2022 26(20) 7572-7579
Reduced resource utilization with early use of next-generation sequencing in rare genetic diseases in an Asian cohort.
Nazeha Nuraini et al. American journal of medical genetics. Part A 2022
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.
Krepischi Ana C V et al. Scientific reports 2022 12(1) 15184
Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry.
Okashah Sarah et al. Genes 2022 13(8)
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots.
Aarabi Mahmoud et al. Psychiatric genetics 2022
Carrier detection probabilities for autosomal recessive variants in unrelated and consanguineous couples - an evaluation of the 86 genes of the ACMG 'Tier 3' panel.
Schmidtke Jörg et al. Journal of community genetics 2022
Health economic evaluation of noninvasive prenatal testing and serum screening for down syndrome.
Xiao Gefei et al. PloS one 2022 17(4) e0266718
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.
Bekheirnia Nasim et al. Kidney360 2022 2(1) 90-104
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil.
Leite Ana Julia da Cunha et al. PloS one 2022 17(4) e0266493
Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis.
Correia-Costa Gabriela Roldão et al. Genetics and molecular biology 2022 45(1) e20200480
Factors associated with maternal consent for use of residual newborn bloodspots in the National Birth Defects Prevention Study.
Wong Eugene C et al. Birth defects research 2022
Using Innovative Machine Learning Methods to Screen and Identify Predictors of Congenital Heart Diseases.
Qu Yanji et al. Frontiers in cardiovascular medicine 2022 8797002
Children with genetic conditions in the United States: Prevalence estimates from the 2016-2017 National Survey of Children's Health.
Lichstein Jesse et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
Clinical aspects of 22q11.2 microdeletion syndrome
Szumutku Fanni et al. Orvosi hetilap 2022 163(1) 21-30
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
Pode-Shakked Ben et al. Scientific reports 2021 11(1) 19099
Comprehensive non-invasive prenatal screening for pregnancies with elevated risks of genetic disorders: protocol for a prospective, multicentre study.
Xu Chenming et al. BMJ open 2021 11(8) e053617
Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study.
Marouane A et al. European journal of pediatrics 2021
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
Yechieli Michal et al. Journal of medical genetics 2021
The Unrecognized Mortality Burden of Genetic Disorders in Infancy.
Wojcik Monica H et al. American journal of public health 2021 111(S2) S156-S162
Correlates of knowledge of genetic diseases and congenital anomalies among pregnant women attending antenatal clinics in Lagos, South-West Nigeria.
Ogamba Chibuzor Franklin et al. The Pan African medical journal 2021 38310
The Perception of Premarital Genetic Screening within Young Jordanian Individuals.
Altaany Zaid et al. Public health genomics 2021 1-7
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.
Sabir Ataf H et al. BMC medical genomics 2021 14(1) 148
Empowering deaf and hard hearing females toward premarital counseling and genetic screening: An educational intervention based on empowerment model.
Zaien Sahar Z et al. African journal of reproductive health 2021 25(s1) 36-49
Clinical and genetic findings in patients with congenital cataract and heart diseases.
Li Xinru et al. Orphanet journal of rare diseases 2021 16(1) 242
Testing and Validating Semi-automated Approaches to the Occupational Exposure Assessment of Polycyclic Aromatic Hydrocarbons.
Santiago-Colón Albeliz et al. Annals of work exposures and health 2021
Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.
Park Jong Eun et al. Orphanet journal of rare diseases 2021 16(1) 166
[Application of Array-based Comparative Genomic Hybridization in Diagnostic Assessment of Abnormal Prenatal Serological Screening Results of Down's Syndrome].
Hu Rui et al. Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition 2021 52(2) 319-325
Chromosomal microarray analysis in fetuses with high-risk prenatal indications: A retrospective study in China.
Luo Xiaomei et al. Taiwanese journal of obstetrics & gynecology 2021 60(2) 299-304
A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns.
Yang Haiyan et al. BMC medical genomics 2021 14(1) 61
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