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Precision Health Database


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Reproductive and Child Health

Last data update: Feb 07, 2023. (Total: 52530 Documents since 2012)
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Query Trace: Birth Defects Or Congenital Anomalies[original query]>>Evidence Synthesis [Product Type]
A comprehensive list of human microdeletion and microduplication syndromes.
Wetzel Alyssa S et al. BMC genomic data 2022 23(1) 82
Clinical utility and cost-effectiveness analysis of chromosome testing concomitant with chromosomal microarray of patients with constitutional disorders in a U.S. academic medical center.
Su Meng et al. Journal of genetic counseling 2021
Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies.
Li Chunmei et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Oct
Investigating the use of ultrasonography for the antenatal diagnosis of structural congenital anomalies in low-income and middle-income countries: a systematic review.
Goley Stephanie Michele et al. BMJ paediatrics open 2020 4(1) e000684
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Waggoner Darrel et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun
Clinical Utility Gene Card for: Becker muscular dystrophy.
Coote David et al. European journal of human genetics : EJHG 2018 Feb
Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy.
Jéru Isabelle et al. European journal of human genetics : EJHG 2016 24(11)
Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders.
Shakiba Marjan et al. Iranian journal of child neurology 2018 12(1) 7-15
Clinical utility gene card for McArdle disease.
Taylor Rhonda L et al. European journal of human genetics : EJHG 2018 Jan
The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.
Dragojlovic Nick et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan
MTHFR A1298C polymorphisms reduce the risk of congenital heart defects: a meta-analysis from 16 case-control studies.
Yu Di et al. Italian journal of pediatrics 2017 Dec 43(1) 108
Prevalence, genetic variants and clinical implications of G-6-PD deficiency in Burkina Faso: a systematic review.
Ouattara Abdoul Karim et al. BMC medical genetics 2017 18(1) 139
Systematic review of the clinical manifestations of glucose-6-phosphate dehydrogenase deficiency in the Greater Mekong Subregion: implications for malaria elimination and beyond.
Ong Ken Ing Cherng et al. BMJ global health 2017 2(3) e000415
Response biomarkers in neonatal intervention studies.
Kelly Lauren E et al. Pediatric research 2017 Aug
Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.
Voorink-Moret M et al. Molecular genetics and metabolism 2017 Dec
Structural and sequence variants in patients with Silver-Russell syndrome or similar features - Curation of a disease database.
Tümer Zeynep et al. Human mutation 2017 Dec
HLA-DQ genetics in children with Celiac disease: A meta-analysis suggesting a two-step genetic screening procedure starting with HLA-DQ β chains.
De Silvestri Annalisa et al. Pediatric research 2017 Dec
Living with a rare disorder: a systematic review of the qualitative literature.
von der Lippe Charlotte et al. Molecular genetics & genomic medicine 2017 Nov 5(6) 758-773
The psychological impact of genetic information on children: a systematic review.
Wakefield Claire E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug 18(8) 755-62
Woman's Pre-Conception Evaluation: Genetic and Fetal Risk Considerations for Counselling and Informed Choice.
Wilson R Douglas et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2017 Oct
Clinical Utility Gene Card for hereditary angioedema with normal C1 inhibitor (HAEnC1).
Stieber Christiane et al. European journal of human genetics : EJHG 2017 Oct 25(10)
Public Health Literature Review of Fragile X Syndrome.
Raspa Melissa et al. Pediatrics 2017 Jun 139(Suppl 3) S153-S171
Management of iron overload in hemoglobinopathies.
Allali S et al. Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine 2017 Jun
Thalassaemia.
Taher Ali T et al. Lancet (London, England) 2017 Jul
Hydroxyurea for hemoglobin E/β-thalassemia: a systematic review and meta-analysis.
Algiraigri Ali H et al. International journal of hematology 2017 Aug
Salivary protein polymorphisms and risk of dental caries: a systematic review.
Lips Andrea et al. Brazilian oral research 2017 Jun 31e41
Clinical utility gene card for: Tangier disease.
Hooper Amanda J et al. European journal of human genetics : EJHG 2017 May
Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.
van Os N J H et al. Clinical genetics 2016 Aug 90(2) 105-17
A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder.
Tsiplova Kate et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 May
A systematic review of the literature for severity predictors in children with sickle cell anemia.
Meier Emily Riehm et al. Blood cells, molecules & diseases 2017 Feb
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