Last Posted: Apr 09, 2024
- Improvement of Variant Reclassification in Genetic Neurodevelopmental Conditions
M Kowanda et al, GIM Open, April 9, 2024 - 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 3 - 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 - Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities.
Zohreh Talebizadeh et al. Int J Neonatal Screen 2024 10(1) - 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 - 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 1 101071 - 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 - Medicaid Enrollment and Service Use Among Adults With Down Syndrome.
Eric Rubenstein et al. JAMA Health Forum 2023 4(8) e232320 - 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 - 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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