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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Public Health Genomics Branch
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Reproductive and Child Health
Last data update: May 02, 2024
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Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability.
Annelieke R Müller et al. Ther Adv Rare Dis 2024 526330040241245721
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Improvement of Variant Reclassification in Genetic Neurodevelopmental Conditions
M Kowanda et al, GIM Open, April 9, 2024
The Healthcare and Societal Costs of Familial Intellectual Disability.
Deborah Schofield et al. Int J Environ Res Public Health 2024 21(3)
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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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The Multiple Odysseys in Research and Clinical Care for Neurogenetic Conditions.
Anne C Wheeler et al. Am J Intellect Dev Disabil 2024 129(2) 110-115
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Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities.
Zohreh Talebizadeh et al. Int J Neonatal Screen 2024 10(1)
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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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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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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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Ethical issues of involving people with intellectual disabilities in genomic research: a scoping review protocol.
Dorothy Chepkirui et al. Wellcome Open Res 2023 8340
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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
Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn Screening.
Margie A Ream et al. Pediatrics 2023
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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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Page last reviewed:
Feb 1, 2024
Page last updated:
May 02, 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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