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General Reference
Acute Illness Protocols (NEC)
Biochemical pathways (Roche)
Brainspan: Atlas of the Developing Human Brain
Embryology.ch
Embryonic development (UNSW)
GeneCards: Human Gene Database
GeneReviews
Genetics Home Reference
Genetic Testing Registry (NCBI)
The Human Protein Atlas
International Skeletal Dysplasia Registry Atlas
MRI atlas of normal myelination
Newborn screening algorithms (ACMG)
OMIM
Online Metabolic and Molecular Basis of Inherited Disease (OMMBID)
Orphanet
Small Molecule Pathway Database
Treatable Intellectual Disability
Unique
Featured
Handbook of Physical Measurements
by
Karen W. Gripp; Anne M. Slavotinek; Judith E. Allanson; Judith G. Hall
ISBN: 9780199935710
Publication Date: 2013-10-24
Smith's Recognizable Patterns of Human Malformation
by
Kenneth Lyons Jones
Publication Date: 2013
Human Malformations and Related Anomalies
by
Roger E. Stevenson (Editor); Judith G. Hall (Editor); David B. Everman (Editor); Benjamin D. Solomon (Editor)
ISBN: 9780199386031
Publication Date: 2015-11-13
Chromosome Abnormalities and Genetic Counseling
by
David J. Amor; R. J. McKinlay Gardner
ISBN: 9780199329007
Publication Date: 2018-03-06
Harper's Practical Genetic Counselling, Eighth Edition
by
Angus Clarke
ISBN: 9780367371944
Publication Date: 2019-09-30
Inborn Metabolic Diseases
by
Jean-Marie Saudubray (Editor); Matthias Baumgartner (Editor); John Walter (Editor)
ISBN: 3662497697
Publication Date: 2016-10-28
Oxford Desk Reference: Clinical Genetics and Genomics
by
Helen V. Firth; Jane A. Hurst
ISBN: 9780199557509
Publication Date: 2017-11-07
Clinical Databases
Amish, Mennonite & Hutterite Database
Familial Cancer Database
IEMbase
TERIS
TOXNET (NLM)
Phenotyping Tools
Face2Gene
Human Phenotype Ontology - Phenomizer
Metabolics Information Centre
Monarch Phenotype Profile Analysis
PhenoTips
POSSUMweb
Genome Browsers
Atlas of Genetics and Cytogenetics in Oncology and Hematology
Catalogue of Somatic Mutations in Cancer (COSMIC)
ClinGen
Database of Genomic Variants (DGV)
DECIPHER Genome Browser
Ensembl Genome Browser
Franklin ROH tool
GeneScout ROH tool (OMIM)
OMIM Gene Map
UCSC Genome Browser
Variant Interpretation
Autoinflammatory Alliance Search
Catalogue of Somatic Mutations in Cancer (COSMIC)
ClinVar (NCBI)
FLOSSIES
Geneimprint
Genetic Variant Interpretation Tool (UMaryland)
gnomAD browser (ExAC)
Human Gene Mutation Database (HGMD)
LOVD
MITOMAP
Mutalyzer
U of Washington Exome Variant Server
VarSome
In Silico Tools
BLAST
Human Splice Finder
MaxENTScan
MutationTaster
NetGene2
PANTHER
PolyPhen-2
SIFT
Search
GTR
Clinical Tools
Growth charts - CPEG (WHO/PHAC 2014)
Growth charts - Preterm (Fenton, 2013)
Head circumference Birth to 21 years (U.S., 2010)
Head circumference SD calculator (SimulConsult)
Midparental height calculator (EBMcalc)
BMI calculator (Dieticians of Canada)
Marfan diagnosis (marfan.org)
Pregnancy wheel
Pregnancy dating calculator
Pediatric blood pressure calculator (NHLBI)
QTc calculator (MedCalc)
NIPT predictive value calculator (NSGC)
Trisomy 21 risk calculator (BC)
PTEN risk calculator (GMI)
All syndromes known 2 man evaluator (cancer)
CancerGene (UTSW)
BRCA decision tool (Stanford)
Tyrer-Cuzick model -breast (IBIS online)
Tyrer-Cuzick model -breast (IBIS download)
Gail model -breast (NIH)
CancerGene (UTSW)
PREMM5 model -Lynch (Dana-Farber)
CanRisk
Prospective Lynch Syndrome Database (PLSD)
Pedigree drawing app (Invitae)
Bayes' theorem calculator (CSU)
Carrier frequency calculator
Quick Links
Cardiac Sciences (WRHA)
Diagnostic Imaging (WRHA)
DIViewer
DSM Intelex (SOP's)
DSM LIM (lab information manual)
eChart
Entrada
HSC Intranet
Prior approval process MOH (Ontario)
Sharepoint (WRHA Genetics)
UM Learn
WRHA Insite
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