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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: Apr 25, 2024
. (Total: 63675 Documents since 2012)
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Examining Sex Differences in Autism Heritability.
Sven Sandin et al. JAMA Psychiatry 2024
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Impact of a Genetic Diagnosis for a Child's Autism on Parental Perceptions.
Julia Wynn et al. J Autism Dev Disord 2024
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Susceptibility to Treatment-Resistant Depression Within Families.
Chih-Ming Cheng et al. JAMA Psychiatry 2024
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Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
M Viggiano et al, NPJ Genomic Medicine, March 22, 2024
Experiences and concerns of parents of children with a 16p11.2 deletion or duplication diagnosis: a reflexive thematic analysis.
Charlotte E Butter et al. BMC Psychol 2024 12(1) 137
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De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam.
Hoa Thi Phuong Bui et al. PLoS One 2024 19(3) e0290936
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What do parents of nonverbal and minimally verbal autistic children think about genomic autism research?
Kathryn Asbury et al. Autism 2024 13623613231213431
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SPARKing New Insight Into Autism Across the Lifespan.
Khemika K Sudnawa et al. Am J Intellect Dev Disabil 2024 129(2) 91-95
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Parental Perspectives on Early Life Screening and Genetic Testing for ASD: A Systematic Review.
Katerina Dounavi et al. J Autism Dev Disord 2024
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Provider-reported experiences, barriers, and perspectives on genetic testing as part of autism diagnosis.
Amy Wang et al. PLoS One 2024 19(2) e0296942
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Impact of Receiving Genetic Diagnoses on Parents' Perceptions of Their Children with Autism and Intellectual Disability.
Robert Klitzman et al. J Autism Dev Disord 2023
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Improving care for rare genetic neurodevelopmental disorders: a systematic review and critical appraisal of clinical practice guidelines using AGREE II.
Mirthe J Klein Haneveld et al. Genet Med 2024 101071
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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
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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
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Factors Associated With Underutilization of Genetic Testing in Autism Spectrum Disorders.
Nicolas J Abreu et al. Pediatr Neurol 2023 15017-23
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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
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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
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Genetic counseling clinic model expansion: Impact on access for general genetics clinic.
Rachel Doberstein et al. J Genet Couns 2023
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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
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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
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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
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Metabolomics: Perspectives on Clinical Employment in Autism Spectrum Disorder.
Martina Siracusano et al. Int J Mol Sci 2023 24(17)
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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
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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
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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
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Evaluation of Birth Weight and Neurodevelopmental Conditions Among Monozygotic and Dizygotic Twins.
Johan Isaksson et al. JAMA Netw Open 2023 6(6) e2321165
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Phenotypic effects of genetic variants associated with autism.
Thomas Rolland et al. Nat Med 2023
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 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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