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Precision Health Database


Genomics & Health Impact Scan Database|Search|PHGKB

Reproductive and Child Health

Last data update: Dec 01, 2021. (Total: 43682 Documents since 2012)
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Query Trace: Birth Defects Or Congenital Anomalies[original query]>>Translation/Implementation Studies[Product Type]
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
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
Domingo-Gallego Andrea et al. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2021 Feb
Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.
Tolusso Leandra K et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Jan
Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of NRXN3 and NEDD4L Deletions.
Çebi Alper Han et al. Molecular syndromology 2020 Nov 11(4) 197-206
Secondary Genome-Wide Association Study Using Novel Analytical Strategies Disentangle Genetic Components of Cleft Lip and/or Cleft Palate in 1q32.2.
Yang Yunju et al. Genes 2020 Oct 11(11)
Genetic counseling for advanced paternal age: A survey of genetic counselors' current practice.
Quirin Kayla et al. Journal of genetic counseling 2020 Sep
[Clinical significance of non-invasive prenatal testing in preventing birth defects].
Zhang Weihua et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Oct 37(10) 1061-1064
Improving preoperative risk-of-death prediction in surgery congenital heart defects using artificial intelligence model: A pilot study.
Chang Junior João et al. PloS one 2020 15(9) e0238199
First trimester anomaly scan using virtual reality (VR FETUS study): study protocol for a randomized clinical trial.
Pietersma C S et al. BMC pregnancy and childbirth 2020 Sep 20(1) 515
CRISPLD2 Gene Polymorphisms with Nonsyndromic Cleft Lip Palate in Indian Population.
Neela Praveen Kumar et al. Global medical genetics 2020 Jun 7(1) 22-25
Implementing comprehensive genetic carrier screening in China-Harnessing the power of genomic medicine for the effective prevention/management of birth defects and rare genetic diseases in China.
Shen Yiping et al. Pediatric investigation 2018 Mar 2(1) 30-36
Perceptions, motivations and decision regret surrounding preimplantation genetic testing for aneuploidy.
Kaing Amy et al. Human reproduction (Oxford, England) 2020 Aug
A Comprehensive Clinical Genetics Approach to Critical Congenital Heart Disease in Infancy.
Shikany Amy R et al. The Journal of pediatrics 2020 Jul
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Corsten-Janssen N et al. Prenatal diagnosis 2020 Jul
Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia.
Rohanizadegan Mersedeh et al. American journal of medical genetics. Part A 2020 Jun
[Clinical value of routine non-invasive prenatal testing for the screening of non-target chromosomal abnormalities].
Zhang Yuxin et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Jun 37(6) 621-626
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