Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report

by Laura Schultz-Rogers, Karthik Muthusamy, Filippo Pinto e Vairo, Eric W. Klee, Brendan Lanpher
Published 2020-11-01

Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis

by Donna B. Raval, Kristina P. Cusmano-Ozog, Omar Ayyub, Callie Jenevein, Laura H. Kofman, Brendan Lanpher, Natalie Hauser, Debra S. Regier
Published 2017-03-01

Clinical utility of genomic sequencing: a measurement toolkit

by Robin Z. Hayeems, David Dimmock, David Bick, John W. Belmont, Robert C. Green, Brendan Lanpher, Vaidehi Jobanputra, Roberto Mendoza, Shashi Kulkarni, Megan E. Grove, Stacie L. Taylor, Euan Ashley, Medical Genome Initiative
Published 2020-12-01