The contribution of mosaicism to genetic diseases and presumed de novo mutations
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Presenting Author - Rory J. Tinker, MD; Co-Author - Lisa Bastarache, MA; Co-Author - Kimberly Ezell, FNP-BC; Co-Author - Shilpa Nadimpalli Kobren, PHD; Co-Author - Cecilia Esteves, MPH; Co-Author - Rizwan Hamid, MD, PhD, FACMG; Co-Author - Joy Cogan, PHD; Co-Author - David Rinker, PHD; Co-Author - Souhrid Mukharjee, PHD; Co-Author - John A Phillips, Dr, MD;
Meta Tag
Bioinformatics
Cancer Syndromes
Chromosomal Abnormalities
Chromosome Structure/Function
Congenital Anomaly
Counseling
Delineation of Diseases
Dysmorphology
Exome sequencing
FISH
Genetic Diversity
Genome sequencing
Genomic Methodologies
Genotype-Phenotype Correlations
Inheritance Patterns
Maternal Genetic Disease
Mitochondria
Population Genetics
Uniparental Disomy
Co-Author Lisa Bastarache, MA
Co-Author Kimberly Ezell, FNP-BC
Co-Author Shilpa Nadimpalli Kobren, PHD
Co-Author Cecilia Esteves, MPH
Co-Author Rizwan Hamid, MD, PhD, FACMG
Co-Author Joy Cogan, PHD
Co-Author David Rinker, PHD
Co-Author Souhrid Mukharjee, PHD
Co-Author John A Phillips, Dr, MD
Presenting Author Rory J. Tinker, MD
Keywords
mosaicism
genetic diseases
de novo mutations
rare disease network
electronic health records
Vanderbilt University Medical Center
Undiagnosed Diseases Network
chromosomal microarray
exome/genome sequencing
parental mosaicism

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