Archive
Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.
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Archived Hot Topics of the Day By Date
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
(Posted: Mar 12, 2024 0PM)
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
(Posted: Jan 20, 2024 10AM)
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
(Posted: Jan 15, 2024 10AM)
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
(Posted: Oct 13, 2023 1PM)
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
(Posted: Aug 04, 2023 10AM)
Evaluation of Birth Weight and Neurodevelopmental Conditions Among Monozygotic and Dizygotic Twins.
Johan Isaksson et al. JAMA Netw Open 2023 6 (6) e2321165
(Posted: Jul 01, 2023 9AM)
"I am not a number!" Opinions and preferences of people with intellectual disability about genetic healthcare.
Strnadová Iva et al. European journal of human genetics : EJHG 2023 1
(Posted: Jan 23, 2023 1PM)
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
DI Francis et al, EJHG, November 29, 2022
(Posted: Nov 29, 2022 11AM)
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
B va der Sanden et al, EJHG, September 15, 2022
(Posted: Sep 16, 2022 9AM)
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
A Lindstrand et al, Genetics in Medicine, September 5, 2022
(Posted: Sep 06, 2022 7AM)
Genetic correlates of phenotypic heterogeneity in autism.
Warrier Varun et al. Nature genetics 2022 6
(Posted: Jun 03, 2022 10AM)
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants
K Hamanaka et al, Genome Medicine, April 26, 2022
(Posted: Apr 29, 2022 1PM)
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
AJB Fernandez et al, EJHG, March 23, 2022
(Posted: Mar 24, 2022 8AM)
Clinical Characterization of Copy Number Variants Associated With Neurodevelopmental Disorders in a Large-scale Multiancestry Biobank.
Birnbaum Rebecca et al. JAMA psychiatry 2022 1 (3) 250-259
(Posted: Mar 03, 2022 8AM)
Covid Vaccines for Children with Developmental Disabilities: Parent Survey of Willingness and Concerns
K Bonuck et al, MEDRXIV, December 23, 2021
(Posted: Dec 24, 2021 0PM)
Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders
J Klau et al, EJHG, October 25, 2021
(Posted: Oct 25, 2021 10AM)
Talking to Patients with Intellectual and Developmental Disabilities about COVID-19 Vaccination- Tips for Healthcare Providers & Clinical Staff
CDC, August 2021
(Posted: Sep 01, 2021 7AM)
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
J Courreaud et al, GIM, August 3, 2021
(Posted: Aug 03, 2021 2PM)
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders
FM Granero et al, Genetics in Medicine February 25, 2021
(Posted: Mar 26, 2021 8AM)
COVID 19 Vaccine Perceptions in the New York State Intellectual and Developmental Disabilities Community
S Ladarola et al, MEDRXIV, March 22, 2021
(Posted: Mar 23, 2021 8AM)
Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders.
Copeland H et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Feb
(Posted: Feb 20, 2021 0PM)
Birth Defects Surveillance Readiness Assessment Tool
Public Health Informatics Institute, February 2021
(Posted: Feb 03, 2021 9AM)
Developmental Disabilities Heighten Risk of Covid Death
RC Rabin, NY Times, November 11, 2020
(Posted: Nov 12, 2020 8AM)
Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies.
Li Chunmei et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Oct
(Posted: Oct 29, 2020 11AM)
Evidence for 28 genetic disorders discovered by combining healthcare and research data
J Kaplanis et al, Nature, October 14, 2020
(Posted: Oct 15, 2020 8AM)
People with intellectual and developmental disabilities disproportionately affected by COVID-19
NIH, August 28, 2020
(Posted: Aug 30, 2020 11AM)
The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment.
Goranitis Ilias et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Aug
(Posted: Aug 26, 2020 7AM)
Intellectual and developmental disability and COVID-19 case-fatality trends: TriNetX analysis.
Turk Margaret A et al. Disability and health journal 2020 May 100942
(Posted: Jun 03, 2020 7AM)
Artificial intelligence for precision medicine in neurodevelopmental disorders
M Uddin et al, NPJ Digital Medicine, November 21, 2019
(Posted: Nov 22, 2019 8AM)
New genetic analysis improves diagnosis of intellectual disability
Karolinska Institute, November 11, 2019
(Posted: Nov 12, 2019 8AM)
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
A Linstrand et al, Genome Medicine, November 7, 2019
(Posted: Nov 08, 2019 9AM)
What’s the “value” of exome sequencing in children with neurodevelopmental disorders?
MJ Khoury, CDC Blog Post, October 16, 2019
(Posted: Oct 17, 2019 9AM)
A large data resource of genomic copy number variation across neurodevelopmental disorders
Mehdi Zarrei, et al. Genomic Medcine, October 7, 2019
(Posted: Oct 10, 2019 8AM)
Increase in Developmental Disabilities Among Children in the United States
CDC, September 2019
(Posted: Oct 02, 2019 8AM)
Technology Tools: Increasing Our Reach in National Surveillance of Intellectual and Developmental Disabilities.
Wagner Jordan B et al. Intellectual and developmental disabilities 2019 Oct 57(5) 463-475
(Posted: Oct 02, 2019 8AM)
Team links gene to children with physical and intellectual disabilities
S Yozwiak, Medical Xpress, August 15, 2019
(Posted: Aug 16, 2019 8AM)
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
S Srivastava et al, Genetics in Medicine, June 10, 2019
(Posted: Jun 11, 2019 7AM)
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants
F Lecoquierre et al, Genetics in Medicine, April 30, 2019
(Posted: Apr 30, 2019 8AM)
Why Act Early if Youre Concerned about Development?
CDC, April 2019
(Posted: Apr 29, 2019 1PM)
Diagnostic Yield of Intellectual Disability Gene Panels.
Pekeles Heather et al. Pediatric neurology 2018 Nov
(Posted: Jan 02, 2019 10AM)
Solving the mysteries of developmental disorders: The DDD study
A Cranage, Sanger Institute, October 16, 2018
(Posted: Oct 20, 2018 4PM)
Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014.
Baio Jon et al. Morbidity and mortality weekly report. Surveillance summaries (Washington, D.C. : 2002) 2018 Apr (6) 1-23
(Posted: Apr 30, 2018 0PM)
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.
Wright Caroline F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan
(Posted: Jan 13, 2018 10AM)
Strategic Plan 2017-2022
National Center on Birth Defects and Developmental Disabilities, 2017
(Posted: Jun 28, 2017 1PM)
A step closer to personalized medicine for intellectual disability: 26 novel genes identified
Newswire Ca, April 12, 2017
(Posted: Apr 12, 2017 10AM)
Child gene study identifies new developmental disorders
F Walsh, BBC, January 25, 2017
(Posted: Jan 25, 2017 2PM)
Prevalence and architecture of de novo mutations in developmental disorders
Deciphering Developmental Disorders Study, Nature, January 25, 2017
(Posted: Jan 25, 2017 1PM)
Genomic diagnosis for children with intellectual disability and/or developmental delay
KM Bowling et al, BioXRV, November 2016
(Posted: Nov 04, 2016 1PM)
Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions
CH Hensel et al, BioXRIV, October 26, 2016
(Posted: Oct 27, 2016 11AM)
Utilization of genetic testing among children with developmental disabilities in the United States.
Kiely Bridget et al. The application of clinical genetics 2016 993-100
(Posted: Aug 03, 2016 9AM)
Exome Sequencing and the Management of Neurometabolic Disorders
Maja Tarailo-Graovac et al, NEJM May 25, 2016
(Posted: May 26, 2016 0AM)
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation
JF McRae et al, Biorxiv, April 2016
(Posted: Apr 22, 2016 10AM)
Genetic studies in intellectual disability and related disorders.
Vissers Lisenka E L M et al. Nature reviews. Genetics 2015 Oct
(Posted: Oct 28, 2015 4PM)
Causes of developmental disabilities include genetics
(Posted: Oct 28, 2015 4PM)
Developmental disabilities are a group of conditions due to an impairment in physical, learning, language, or behavior areas.
About one in six children in the U.S. have one or more developmental disabilities or other developmental delays
(Posted: Oct 28, 2015 4PM)
Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder
Rockville (MD):Agency for Healthcare Research and Quality (US) 2015 Jun
(Posted: Jul 15, 2015 3PM)
Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.
Choucair Nancy et al. Mol Cytogenet 2015 26
(Posted: May 26, 2015 1PM)
Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:Mar 27, 2024
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