Skip directly to search
Skip directly to A to Z list
Skip directly to navigation
Skip directly to page options
Skip directly to site content
Start of Search Controls
Search Form Controls
Search The CDC
submit
CDC A-Z Index
MENU
CDC A-Z
SEARCH
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
#
Search Form Controls
Search The CDC
submit
CDC A-Z Index
Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
About
Public Health Genomics Branch
PHGKB Weekly Horizon Scan
Genomics Precision Health Scan
Advanced Molecular Detection Clips
Non-Genomics Precision Health Scan
CDC-authored Publications Scan
Specialized PHGKB
Cancer PHGKB
Diabetes PHGKB
Economic Evaluation PHGKB
Environmental Health PHGKB
Family Health History PHGKB
Health Equity PHGKB
HLBS-PopOmics
Infectious Diseases PHGKB
Implementation Science PHGKB
Neurological Disorders PHGKB
Pharmacogenomics PHGKB
Primary Immune Deficiency Diseases PHGKB
Rare Diseases PHGKB
Reproductive and Child Health PHGKB
All Databases
COVID-19 GPH (47322)
CDC/NIH Web Information Database (32178)
CDC-Authored Genomics and Precision Health Publications Database (5836)
Precision Health Database (63653)
Tier-Classified Guidelines Database (533)
Pathogen Advanced Molecular Detection Database (26729)
All of Us Reports and Publications Database (673)
Human Genome Epidemiology
Human Genome Epidemiology Literature Finder (226416)
Epigenetic Epidemiology Publications Database (22749)
Release Note
Contact Us
Precision Health Database
Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: Apr 23, 2024
. (Total: 63653 Documents since 2012)
All
Cancer
Diabetes
Economic
Equity
Environmental
FHH
HLBS
ID
Implementation
ND
PGx
PI
Rare
RCH
dataset
All
GPH
Non-GPH
Filtered By
:
Select to fine-tune your search
Disease
Gene
Product Type
Category
Year
Previous
Records 1 - 30 (of 5062 Records)
Next
Query Trace:
all[original query]>> Birth Defects/Child Health[Category]
Examining Sex Differences in Autism Heritability.
Sven Sandin et al. JAMA Psychiatry 2024
Similar articles in PubMed
Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations
ASA Cohen et al, AJHG, April 17, 2024
Medication Usage Record-Based Predictive Modeling of Neurodevelopmental Abnormality in Infants under One Year: A Prospective Birth Cohort Study.
Tianyi Zhou et al. Healthcare (Basel) 2024 12(7)
Similar articles in PubMed
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Julie A Jurgens et al. medRxiv 2024
Similar articles in PubMed
Evaluation of the Genetic Background of Patients with Niemann-Pick Disease.
Fatemeh Alipouran et al. Rep Biochem Mol Biol 2024 12(3) 386-392
Similar articles in PubMed
Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy
O Battacharria et al, IJNS, April 15, 2024
Lethal phenotypes in Mendelian disorder
P Cacheiro et al, GIM, April 15, 2024
Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder
S Bahtia et al, EJHG, April 11, 2024
The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders.
Bethany Stafford-Smith et al. J Genet Couns 2024
Similar articles in PubMed
Impact of a Genetic Diagnosis for a Child's Autism on Parental Perceptions.
Julia Wynn et al. J Autism Dev Disord 2024
Similar articles in PubMed
An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub-Saharan Africa.
Mendi J Muthinja et al. Ann Hum Genet 2024
Similar articles in PubMed
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Gabrielle Lemire et al. Am J Hum Genet 2024
Similar articles in PubMed
Improvement of Variant Reclassification in Genetic Neurodevelopmental Conditions
M Kowanda et al, GIM Open, April 9, 2024
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.
Ali AlMail et al. NPJ Genom Med 2024 9(1) 27
Similar articles in PubMed
mRNA drug offers hope for treating a devastating childhood disease.
Elie Dolgin et al. Nature 2024
Similar articles in PubMed
The Effectiveness of Artificial Intelligence in Assisting Mothers with Assessing Infant Stool Consistency in a Breastfeeding Cohort Study in China.
Jieshu Wu et al. Nutrients 2024 16(6)
Similar articles in PubMed
The Healthcare and Societal Costs of Familial Intellectual Disability.
Deborah Schofield et al. Int J Environ Res Public Health 2024 21(3)
Similar articles in PubMed
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Darcy L Fehlings et al. Nat Genet 2024
Similar articles in PubMed
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.
Vaidehi Jobanputra et al. NPJ Genom Med 2024 9(1) 23
Similar articles in PubMed
Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children.
Danya F Vears et al. Twin Res Hum Genet 2024 1-8
Similar articles in PubMed
Molecular autopsy for fetal structural anomaly: diagnostic and clinical utility of multidisciplinary team approach.
E Wall et al. Ultrasound Obstet Gynecol 2024
Similar articles in PubMed
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases.
S Zucca et al. Hum Genet 2024
Similar articles in PubMed
A Communication and Decision-Making Framework for Pediatric Precision Medicine.
Brittany L Greene et al. Pediatrics 2024
Similar articles in PubMed
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
M Viggiano et al, NPJ Genomic Medicine, March 22, 2024
Development of a Low Cost Semiquantitative Polymerase Chain Reaction Assay for Molecular Diagnosis of Williams Syndrome.
Dinali M Ranaweera et al. Clin Lab 2024 70(3)
Similar articles in PubMed
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
Similar articles in PubMed
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Christopher J Record et al. Brain 2024
Similar articles in PubMed
Identifying non-adult attention-deficit/hyperactivity disorder individuals using a stacked machine learning algorithm using administrative data population registers in a universal healthcare system.
David Roche et al. JCPP Adv 2024 4(1) e12193
Similar articles in PubMed
Association of sociodemographic and clinical factors with the quality of life of Brazilian individuals with Neurofibromatosis type 1: a cross-sectional study.
Natália Parenti Bicudo et al. An Bras Dermatol 2024
Similar articles in PubMed
Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence.
Rebekah L Waikel et al. JAMA Netw Open 2024 7(3) e242609
Similar articles in PubMed
File Formats Help:
How do I view different file formats (PDF, DOC, PPT, MPEG) on this site?
Adobe PDF file
Microsoft PowerPoint file
Microsoft Word file
Microsoft Excel file
Audio/Video file
Apple Quicktime file
RealPlayer file
Text file
Zip Archive file
SAS file
ePub file
Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 23, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
,
National Center on Birth Defects and Developmental Disabilities
TOP