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Literature
MGG
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
The Human Protein Atlas
International Skeletal Dysplasia Registry Atlas
MedlinePlus: Genetics (NIH)
Newborn screening algorithms (ACMG)
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; Marilyn Crandall Jones; Miguel del Campo
ISBN: 9780323638821
Publication Date: 2021-06-04
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
GestaltMatcher Database
Human Phenotype Ontology - Phenomizer
Metabolics Information Centre
Monarch Initiative: Phenotypes
PhenoTips
Genome Browsers
Atlas of Genetics and Cytogenetics in Oncology and Hematology
Database of Genomic Variants (DGV)
DECIPHER Genome Browser
Ensembl Genome Browser
Franklin ROH tool
GeneScout ROH tool (OMIM)
UCSC Genome Browser
Variant Interpretation
Catalogue of Somatic Mutations in Cancer (COSMIC)
ClinGen - Clinical Genome Resource (NIH)
FLOSSIES
Geneimprint
Genetic Variant Interpretation Tool (UMaryland)
gnomAD
Human Gene Mutation Database (HGMD)
Indigenous background variant library (IBVL)
LOVD
MITOMAP
Mutalyzer
VarSome
In Silico Tools
BLAST
Human Splice Finder
MaxENTScan
MutationTaster
NetGene2
PANTHER
PolyPhen-2
SIFT
Matchmaking
The evolution of genomic matchmaking (Boycott et. al., 2022))
GeneMatcher
Geno2MP
GenomeConnect: The ClinGen Patient Portal
Global Alliance for Genomics & Health (GA4GH)
International Rare Diseases Research Consortium (IRDiRC)
Matchmaker Exchange
ModelMatcher
PubCaseFinder
Rare Diseases Models and Mechanisms Network
Undiagnosed Diseases Network
Search
Genetic Testing Registry (NIH)
Clinical Tools
ASK2ME risk calculator
Autoinflammatory Alliance Search
Bayes' theorem calculator (CSU)
BMI calculator (NIH)
BRCA decision tool (Stanford)
BSA calculator (MDCalc)
CanRisk
Carrier frequency calculator
FamGenix (pedigree tool)
Gail Model: Breast Cancer Risk (NIH)
GIR calculator
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)
Marfan diagnosis (Marfan.org)
Midparental height calculator (EBMcalc)
MRI atlas of normal myelination
mycancerIQ (OntarioHealth)
NIPT predictive value calculator (NSGC)
Pediatric blood pressure calculator (NHLBI)
Pregnancy wheel
PREMM5 model -Lynch (Dana-Farber)
Prospective Lynch Syndrome Database (PLSD)
PTEN risk calculator (GMI)
QTc calculator (Mdcalc)
QuickPed pedigree creator
Rourke Baby Record
Trisomy 21 risk calculator (BC)
Tyrer-Cuzick model -breast (IBIS download)
Tyrer-Cuzick model -breast (IBIS online)
Quick Links
Cardiac Sciences (WRHA)
Diagnostic Imaging (WRHA)
DIViewer
DSM Intelex (SOP's)
DSM LIM (lab information manual)
eChart
Entrada
HSC Intranet
Genome-wide Sequencing Ontario - Eligibility (GSO)
Sharepoint (WRHA Genetics)
UM Learn
U of M Libraries search
WRHA Insite
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