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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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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
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
Factors Associated With Underutilization of Genetic Testing in Autism Spectrum Disorders.
Nicolas J Abreu et al. Pediatr Neurol 2023 15017-23
Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing data.
Apurba Shil et al. Sci Rep 2023 13(1) 18853
Postpartum and non-postpartum depression: a population-based matched case-control study comparing polygenic risk scores for severe mental disorders.
Trine Munk-Olsen et al. Transl Psychiatry 2023 13(1) 346
Genetic counseling clinic model expansion: Impact on access for general genetics clinic.
Rachel Doberstein et al. J Genet Couns 2023
Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.
Drayton C Harvey et al. Front Cardiovasc Med 2023 101249605
Receiving de novo genetic diagnoses for autism with intellectual disability: parents' views of impacts on families' reproductive decisions.
Robert Klitzman et al. J Community Genet 2023
Scientists discover how dozens of genes may contribute to autism
M Johnson, The Washington Post, October 5, 2023
Review of pharmacogenomics of psychiatric comorbidities in autism spectrum disorder.
Aida Alvarez et al. Pharmacogenomics 2023
Metabolomics: Perspectives on Clinical Employment in Autism Spectrum Disorder.
Martina Siracusano et al. Int J Mol Sci 2023 24(17)
Underdiagnosis of autism in children with fragile X syndrome reveals need for better education, early screening
E Bluvas, Medical Xpress, August 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Chelsea Lowther et al. Am J Hum Genet 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
C Lowther et al, AJHG, August 17, 2023
Ethical challenges in autism genomics: Recommendations for researchers.
Heini M Natri et al. Eur J Med Genet 2023 66(9) 104810
Mental health impact of autism on families of children with intellectual and developmental disabilities of genetic origin.
Jeanne Wolstencroft et al. JCPP Adv 2023 3(1) e12128
Evaluation of Birth Weight and Neurodevelopmental Conditions Among Monozygotic and Dizygotic Twins.
Johan Isaksson et al. JAMA Netw Open 2023 6(6) e2321165
Phenotypic effects of genetic variants associated with autism.
Thomas Rolland et al. Nat Med 2023
Contemplating syndromic autism
JA Vortsmann et al, Genetics in Medicine, June 15, 2023
General v. specific vulnerabilities: polygenic risk scores and higher-order psychopathology dimensions in the Adolescent Brain Cognitive Development (ABCD) Study.
Monika A Waszczuk et al. Psychol Med 2023 53(5) 1937-1946
Knowledge, attitudes and experiences of genetic testing for autism spectrum disorders among caregivers, patients, and health providers: A systematic review.
Meng Zhou et al. World J Psychiatry 2023 13(5) 247-261
Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.
Jean-Marie Ravel et al. Genome Med 2023 15(1) 39
Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach.
Nicholas Donnelly et al. Mol Autism 2023 14(1) 19
Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome.
Pritesh Jain et al. Transl Psychiatry 2023 13(1) 69
Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.
Ana Karen Sandoval-Talamantes et al. Genes (Basel) 2023 14(4)
Epigenetic changes in sperm are associated with paternal and child quantitative autistic traits in an autism-enriched cohort.
Jason I Feinberg et al. Mol Psychiatry 2023
Interactions between the lipidome and genetic and environmental factors in autism.
Chloe X Yap et al. Nat Med 29(4) 936-949
What is Autism Spectrum Disorder?
CDC, 2023
Co-occurring conditions in children with Down syndrome and autism: a retrospective study.
Noemi A Spinazzi et al. Journal of neurodevelopmental disorders 2023 15(1) 9
Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.
Pedro J Gonzalez-Mantilla et al. JAMA pediatrics 2023
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