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)
Last data update: Apr 19, 2024
. (Total: 63627 Documents since 2012)
All
Cancer
Diabetes
Economic
Environmental
Equity
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 - 29 (of 29 Records)
Query Trace:
Rare diseases[original query]>>Guidelines Related[Product Type]
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
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective.
Félix Têmis Maria et al. International journal for equity in health 2023 22(1) 11
Similar articles in PubMed
Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.
Dardis A et al. Orphanet journal of rare diseases 2022 17(1) 442
Similar articles in PubMed
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Souche Erika et al. European journal of human genetics : EJHG 2022
Similar articles in PubMed
Recommendations for whole genome sequencing in diagnostics for rare diseases
E Souche et al, EJHG, May 16, 2022
Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021.
Silva Cassiano Augusto Braga et al. Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia 2022
Similar articles in PubMed
Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol [version 1; peer review: 2 approved, 2 approved with reservations].
Lewis Celine et al. NIHR open research 2022 123
Similar articles in PubMed
RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy.
Sodi Andrea et al. Orphanet journal of rare diseases 2021 16(1) 257
Similar articles in PubMed
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
Black Graeme C et al. Orphanet journal of rare diseases 2021 16(1) 142
Similar articles in PubMed
European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT).
Eker Omer F et al. Orphanet journal of rare diseases 2020 Jun 15(1) 165
Similar articles in PubMed
Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases.
Mellerio Jemima E et al. Orphanet journal of rare diseases 2020 Jun 15(1) 142
Similar articles in PubMed
Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines.
Martin K et al. Orphanet journal of rare diseases 2019 14(1) 133
Similar articles in PubMed
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.
Akyol Mehmet Umut et al. Orphanet journal of rare diseases 2019 14(1) 118
Similar articles in PubMed
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.
van de Laar Ingrid M B H et al. Orphanet journal of rare diseases 2019 Nov 14(1) 264
Similar articles in PubMed
The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases - recommendations of the IRDiRC Data Mining and Repurposing Task Force.
Southall Noel T et al. Orphanet journal of rare diseases 2019 Oct 14(1) 225
Similar articles in PubMed
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.
Rinaldi Berardo et al. Orphanet journal of rare diseases 2017 12(1) 69
Similar articles in PubMed
International Guidelines for the Treatment of Huntington's Disease.
Bachoud-Lévi Anne-Catherine et al. Frontiers in neurology 2019 10710
Similar articles in PubMed
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.
Kuiper Gé-Ann et al. Orphanet journal of rare diseases 2019 14(1) 17
Similar articles in PubMed
Development of national consensus statements on food labelling interpretation and protein allocation in a low phenylalanine diet for PKU.
et al. Orphanet journal of rare diseases 2019 14(1) 2
Similar articles in PubMed
Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium.
Javaid Muhammad Kassim et al. Orphanet journal of rare diseases 2019 Jun 14(1) 139
Similar articles in PubMed
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.
Akyol Mehmet Umut et al. Orphanet journal of rare diseases 2019 Jun 14(1) 137
Similar articles in PubMed
Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot Tarekegn et al. Orphanet journal of rare diseases 2018 Apr 13(1) 50
Similar articles in PubMed
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.
Kwon Jennifer M et al. Orphanet journal of rare diseases 2018 Feb 13(1) 30
Similar articles in PubMed
The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.
Lochmüller Hanns, et al. European journal of human genetics : EJHG 2017 12 0. (12) 1293-1302
Similar articles in PubMed
Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin.
Manna Raffaele et al. Internal and emergency medicine 2017 Jul
Similar articles in PubMed
Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder.
Cismondi Inés Adriana et al. Biochim. Biophys. Acta 2015 Jun 24.
Similar articles in PubMed
Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.
O'Byrne J J et al. Ir J Med Sci 2015 Apr 21.
Similar articles in PubMed
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
Similar articles in PubMed
A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document.
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