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 (47415)
CDC/NIH Web Information Database (32174)
CDC-Authored Genomics and Precision Health Publications Database (5825)
Precision Health Database (63627)
Tier-Classified Guidelines Database (533)
Pathogen Advanced Molecular Detection Database (26729)
All of Us Reports and Publications Database (656)
Human Genome Epidemiology
Human Genome Epidemiology Literature Finder (226255)
Epigenetic Epidemiology Publications Database (22724)
Release Note
Contact Us
Precision Health Database
Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: Apr 19, 2024
. (Total: 63627 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 - 27 (of 27 Records)
Query Trace:
Assessing the Performance of the Clinician-Reported Genetic Testing Utility InDEx (C-GUIDE): Further Evidence of Inter-Rater Reliability.
Robin Z Hayeems et al. Clin Ther 2023
Similar articles in PubMed
Comprehensive Genetic Evaluation of Bulgarian Children with Syndromic Craniosynostosis.
T Delchev et al. Balkan journal of medical genetics : BJMG 2023 25(1) 19-24
Similar articles in PubMed
The current understanding of germline predisposition in non-syndromic sagittal craniosynostosis: a systematic review.
Bille Agnes et al. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2022
Similar articles in PubMed
Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.
Bukowska-Olech Ewelina et al. Frontiers in molecular biosciences 2022 9865494
Similar articles in PubMed
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Hyder Zerin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
Similar articles in PubMed
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Z Hyder et al, Genet Med, August 25, 2021
Clinical experience with non-invasive prenatal screening for single-gene disorders (NIPT-SGD).
Mohan P et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2021
Similar articles in PubMed
Evaluation of a computer-based facial dysmorphology analysis algorithm (Face2Gene) using standardized textbook photos.
Javitt Matthew J et al. Eye (London, England) 2021
Similar articles in PubMed
Insights and future directions of potential genetic therapy for Apert syndrome: A systematic review.
Al-Namnam Nisreen Mohammed et al. Gene therapy 2021
Similar articles in PubMed
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.
Tønne Elin et al. European journal of human genetics : EJHG 2020 Dec
Similar articles in PubMed
Apert syndrome: prenatal diagnosis challenge.
Vieira Catarina et al. BMJ case reports 2019 Dec 12(12)
Similar articles in PubMed
NGS targeted screening of 100 Scandinavian patients with coronal synostosis.
Topa Alexandra et al. American journal of medical genetics. Part A 2019 Dec
Similar articles in PubMed
Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing.
Yoon Jihoon G et al. Neurosurgery 2019 Nov
Similar articles in PubMed
Genome-wide association studies of structural birth defects: A review and commentary.
Lupo Philip J et al. Birth defects research 2019 Oct
Similar articles in PubMed
Phenotype delineation of ZNF462 related syndrome.
Kruszka Paul et al. American journal of medical genetics. Part A 2019 Jul
Similar articles in PubMed
CLINGEN Actionability Report for Hypophosphatasia-ALPL
ClinGen Actionability Working Group
CLINGEN Actionability Report for Hypophosphatemic rickets, X-linked dominant-PHEX
ClinGen Actionability Working Group
CLINGEN Actionability Report for Loeys-Dietz Syndrome - SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
ClinGen Actionability Working Group
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Torti Erin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Feb
Similar articles in PubMed
Crouzon syndrome: Genetic and intervention review.
Al-Namnam N M et al. Journal of oral biology and craniofacial research 9(1) 37-39
Similar articles in PubMed
She had a lot of rashes, but dont all kids?
SG Boodman, Washington Post, July 2018
Genetics of non-syndromic craniosynostosis.
Timberlake Andrew T et al. Plastic and reconstructive surgery 2018 Mar
Similar articles in PubMed
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Lee Eric et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Dec
Similar articles in PubMed
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Miller Kerry A et al. Journal of medical genetics 2017 Apr 54(4) 260-268
Similar articles in PubMed
Clinical genetics of craniosynostosis.
Wilkie Andrew O M et al. Current opinion in pediatrics 2017 Sep
Similar articles in PubMed
A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners.
Phipps Julie et al. Journal of genetic counseling 2017 Mar
Similar articles in PubMed
Genetic Screening in Patients with Craniofacial Malformations.
Yoon Amanda J et al. Journal of pediatric genetics 2016 Dec 5(4) 220-224
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 19, 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