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Precision Health Database


Precision Health Database|Search|PHGKB

Last data update: Dec 08, 2023. (Total: 62301 Documents since 2012)
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Query Trace: all[original query]>> Birth Defects/Child Health[Category]
Epigenome-wide association studies of prenatal maternal mental health and infant epigenetic profiles: a systematic review.
Emily Drzymalla et al. Transl Psychiatry 2023 13(1) 377
Phenotype-Driven Molecular Genetic Test Recommendation for Diagnosing Pediatric Rare Disorders.
Chunhua Weng et al. Res Sq 2023
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.
Emanuele Monda et al. Circ Genom Precis Med 2023 e004252
Whole-Exome Sequencing Among School-Aged Children With High Myopia.
Xiangyi Yu et al. JAMA Netw Open 2023 6(12) e2345821
Detecting early signs in Duchenne muscular dystrophy: comprehensive review and diagnostic implications.
Eugenio Mercuri et al. Front Pediatr 2023 111276144
The implementation and utility of clinical exome sequencing in a South African infant cohort.
L Campbell et al. Front Genet 2023 141277948
The past, current, and future of neonatal intensive care units with artificial intelligence: a systematic review.
Elif Keles et al. NPJ Digit Med 2023 6(1) 220
A Prospective Study of an Early Prediction Model of Attention Deficit Hyperactivity Disorder Based on Artificial Intelligence.
Gang Wang et al. J Atten Disord 2023 10870547231211360
Incremental value of machine learning for risk prediction in tetralogy of Fallot.
Ayako Ishikita et al. Heart 2023
Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience.
Mangalore S Shravya et al. Clin Dysmorphol 2023
Validation and cross-cultural adaptation of the Italian version of the paediatric eating assessment tool (I-PEDI-EAT-10) in genetic syndromes.
Roberta Onesimo et al. Int J Lang Commun Disord 2023
The Lived Experience of Pediatric Gene Therapy - A Scoping Review.
Laura Kimberly et al. Hum Gene Ther 2023
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
Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis.
Xiaorui Xie et al. BMC Med Genomics 2023 16(1) 298
Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
Ana B W Greenberg et al. JAMA Netw Open 2023 6(11) e2343384
Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders.
Mario Cesare Nurchis et al. Eur J Health Econ 2023
Down Syndrome in a New Era for Alzheimer Disease.
Michael S Rafii et al. JAMA 2023
Public Health Genetics, Gene Therapy, and Duchenne Muscular Dystrophy
CDC Webinar, December 18, 2023
Gene therapy-based strategies for spinal muscular atrophy-an Asia-Pacific perspective.
Michelle A Farrar et al. Mol Cell Pediatr 2023 10(1) 17
Research participants' perspectives regarding the feedback of secondary findings-A cohort from the DDD-Africa study, South Africa.
Barry Shingwenyana et al. J Genet Couns 2023
Screening results and mutation frequency analysis of G6PD deficiency in 1,291,274 newborns in Huizhou, China: a twenty-year experience.
Zhiqiang Zhang et al. Ann Hematol 2023
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Guillaume Jedraszak et al. Am J Med Genet A 2023
"We are not a typical family anymore": Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia.
Jacintha Luermans et al. Am J Med Genet A 2023
A decision-making framework for genomic testing in paediatric nephrology.
Inez Beadell et al. J Paediatr Child Health 2023
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for rare disease patients in a publicly-funded healthcare system: a prospective cohort study.
Taila Hartley et al. Genet Med 2023 101012
Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review.
Sunu Kim et al. Clin Genet 2023
The Impact of Artificial Intelligence on Optimizing Diagnosis and Treatment Plans for Rare Genetic Disorders.
Shenouda Abdallah et al. Cureus 2023 15(10) e46860
Factors Associated With Underutilization of Genetic Testing in Autism Spectrum Disorders.
Nicolas J Abreu et al. Pediatr Neurol 2023 15017-23
Clinical Utility of Proband Only Clinical Exome Sequencing in Neurodevelopmental Disorders.
Karthika Ajit Valaparambil et al. Indian J Pediatr 2023
Collaborative efforts to improve genetic testing in the neonatal intensive care unit.
Bryce A Schuler et al. J Perinatol 2023
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