Rapid genome sequencing identifies a de novo SNAP25 variant for neonatal congenital myasthenic syndrome
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Presenting Author - Ting Wen, PHD, MBBS; Co-Author - Hayley M. Reynolds, BS; Co-Author - Andrew Farrell, PHD; Co-Author - Barry Moore, MS BS; Co-Author - Steven E. Boyden, PhD; Co-Author - Thomas J. Nicholas; Co-Author - Shawn Rynearson, BS; Co-Author - Carson Holt, PHD; Co-Author - Christine E. Miller, MS, LCGC; Co-Author - Katherine Noble, PHD; Co-Author - Dawn Bentley, MSN; Co-Author - Rachel Palmquist, MS, CGC; Co-Author - Betsy Ostrander, MD; Co-Author - Stephanie Manberg, DO; Co-Author - Joshua L. Bonkowsky, MD; Co-Author - Brian J. Shayota, MD, MPH; Co-Author - Sabrina Malone Jenkins, MD; Co-Author - Pinar Bayrak-Toydemir; Co-Author - Rong Mao, MD;
Meta Tag
Brain/Nervous System
Congenital Anomaly
Dysmorphology
Genetic Testing
Genome sequencing
Genotype-Phenotype Correlations
Molecular Pathophysiology
Musculoskeletal system
NextGen Sequencing
Sequencing
Variant Detection
Co-Author Hayley M. Reynolds, BS
Co-Author Andrew Farrell, PHD
Co-Author Barry Moore, MS BS
Co-Author Steven E. Boyden, PhD
Co-Author Thomas J. Nicholas
Co-Author Shawn Rynearson, BS
Co-Author Carson Holt, PHD
Co-Author Christine E. Miller, MS, LCGC
Co-Author Katherine Noble, PHD
Co-Author Dawn Bentley, MSN
Co-Author Rachel Palmquist, MS, CGC
Co-Author Betsy Ostrander, MD
Co-Author Stephanie Manberg, DO
Co-Author Joshua L. Bonkowsky, MD
Co-Author Brian J. Shayota, MD, MPH
Co-Author Sabrina Malone Jenkins, MD
Co-Author Pinar Bayrak-Toydemir
Co-Author Rong Mao, MD
Presenting Author Ting Wen, PHD, MBBS
Keywords
rapid whole genome sequencing
neonatal congenital myasthenic syndrome
genomic DNA
umbilical cord blood
NovaSeq 6000 sequencing platform
Utah NeoSeq pipeline
SNAP25 gene
de novo stop-gain mutation
CMS18
neonatal intensive care unit (NICU)

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