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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)
Reproductive and Child Health
Last data update: Mar 28, 2024
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Birth Defects Or Congenital Anomalies[original query]>>Original Studies[Product Type]
The detection efficacy of noninvasive prenatal genetic testing (NIPT) for sex chromosome abnormalities and copy number variation and its differentiation in pregnant women of different ages.
Yimei Li et al. Heliyon 2024 10(2) e24155
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Preimplantation genetic testing in couples with balanced chromosome rearrangement: a four-year period real world retrospective cohort study.
Fan Zhou et al. BMC Pregnancy Childbirth 2024 24(1) 86
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The Impact of Integration of a Genetic Clinic Into a Pediatric Cardiac Unit.
Ayman Elfky et al. Cureus 2024 15(12) e50941
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Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Ziyang Cao et al. Mol Genet Genomic Med 2024 12(1) e2357
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Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement.
Blake Vuocolo et al. Res Sq 2024
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Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.
M Cecilia Poli et al. Eur J Hum Genet 2024
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The Role of Preprocedure Genetic Counseling in Pregnancies Interrupted for Fetal Abnormalities.
Alex A Francoeur et al. Am J Perinatol 2023
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Prediction of 2-Year Cognitive Outcomes in Very Preterm Infants Using Machine Learning Methods.
Andrea K Bowe et al. JAMA Netw Open 2023 6(12) e2349111
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Pregnancy After Breast Cancer in Young BRCA Carriers: An International Hospital-Based Cohort Study.
Matteo Lambertini et al. JAMA 2023
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Clinical Genetics Assessment Triangle (CGAT): A simple tool to identify patients with genetic conditions.
David Ferri-Rufete et al. Eur J Med Genet 2023 104858
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Neighborhood Deprivation and Neural Tube Defects.
Shannon Pruitt Evans et al. Epidemiology 2023 34(6) 774-785
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A machine learning model for predicting congenital heart defects from administrative data.
Haoming Shi et al. Birth Defects Res 2023
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Structured Framework for Multidisciplinary Parent Counseling and Medical Interventions for Fetuses and Infants with Trisomy 13 or Trisomy 18.
Amanda J H Kim et al. Am J Perinatol 2023
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Prenatal diagnosis and early childhood outcome of fetuses with extremely large nuchal translucency.
Hang Zhou et al. Mol Cytogenet 2023 16(1) 22
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The effect of resolution level and targeted design in the diagnostic performance of prenatal chromosomal microarray analysis.
Elena Papageorgiou et al. Fetal Diagn Ther 2023
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Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.
Li Zhang et al. J Hum Genet 2023
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Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities
KA Drexler et al, Genet in Med June 13, 2023
Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia.
Nydia Rena Benita Sihombing et al. Intractable Rare Dis Res 2023 12(2) 104-113
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Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.
Yanqiu Liu et al. Hum Genome Var 2023 10(1) 15
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Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Anne Slavotinek et al. NPJ Genom Med 2023 8(1) 10
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Classification of normal and abnormal fetal heart ultrasound images and identification of ventricular septal defects based on deep learning.
Yiru Yang et al. J Perinat Med 2023
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Musculoskeletal phenotypes in 3q29 deletion syndrome.
Rebecca M Pollak et al. medRxiv 2023
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High rates of "atypical" single nucleotide polymorphism-based noninvasive prenatal screening results among consanguineous Arab American patients: A single center retrospective study.
Mariam Ayyash et al. J Genet Couns 2023
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Never "totally prepared": Support groups on helping families prepare for a child with a genetic condition.
Kaitlynn P Craig et al. J Community Genet 2023 1-9
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Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population.
Rai-Hseng Hsu et al. Molecular genetics & genomic medicine 2023 e2160
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A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases.
Francesca Becherucci et al. Journal of the American Society of Nephrology : JASN 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
Renal Genetics Clinic: 3-Year Experience in the Cleveland Clinic.
Xin Yee Tan et al. Kidney medicine 2023 5(2) 100585
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An automatic facial landmarking for children with rare diseases.
Quentin Hennocq et al. American journal of medical genetics. Part A 2023
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A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon Anne-Sophie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100018
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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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