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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)
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Last data update: Apr 25, 2024
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Developmental Disabilities Or Developmental Disorders Or Intellectual Disorder Or Intellectual Disability[original query]>>Original Studies[Product Type]
Parent perspectives following newborn screening resulting in diagnoses of fragile X syndrome or fragile X premutation.
Allyson Corbo et al. Res Dev Disabil 2024 148104719
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Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.
Lea Urpa et al. Eur J Hum Genet 2024
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Narrowing the Diagnostic Gap: Genomes, Episignatures, Long-Read Sequencing and Health Economic Analyses in an Exome-Negative Intellectual Disability Cohort
KR Dias et al, Genetics in Medicine, January 19, 2024
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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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
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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
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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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The translation of psychiatric genetic findings to the clinic.
Kimberley Marie Kendall et al. Schizophr Res 2023
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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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Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
Michelle van Slobbe et al. Eur J Pediatr 2023
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Health status and comorbidities of adult patients with late-diagnosed phenylketonuria (PKU) born before the newborn screening in France - A nationwide study of health insurance claims data.
Claire Douillard et al. Mol Genet Metab 2023 140(3) 107704
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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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Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study
RY Eberhardt et al, Genetics in Medicine, October 12, 2023
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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Project Inclusive Genetics: Protecting reproductive autonomy from bias via prenatal patient-centered counseling.
Apolline Jungels et al. HGG Adv 2023 4(4) 100228
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Medicaid Enrollment and Service Use Among Adults With Down Syndrome.
Eric Rubenstein et al. JAMA Health Forum 2023 4(8) e232320
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Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.
YN Francis et al, Genetics in Medicine Open, August 4, 2023
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Hyun Yong Koh et al. JAMA Netw Open 2023 6(7) e2324380
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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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Impact of comorbidity on family genetic risk profiles for psychiatric and substance use disorders: a descriptive analysis.
Kenneth S Kendler et al. Psychol Med 2023 53(6) 2389-2398
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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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Global developmental delay and intellectual disability in the era of genomics: Diagnosis and challenges in resource limited areas.
Amira T Masri et al. Clin Neurol Neurosurg 2023 230107799
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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
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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
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PredictMed-epilepsy: A multi-agent based system for epilepsy detection and prediction in neuropediatrics.
Carlo M Bertoncelli et al. Comput Methods Programs Biomed 2023 236107548
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Improving nocturnal event monitoring in people with intellectual disability in community using an artificial intelligence camera.
Sarah Lennard et al. Epilepsy Behav Rep 2023 22100603
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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)
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Retrospective file review shows limited genetic services fails most patients - an argument for the implementation of exome sequencing as a first-tier test in resource-constraint settings.
Emma K Wiener et al. Orphanet J Rare Dis 2023 18(1) 81
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Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Caroline F Wright et al. N Engl J 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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