Last Updated: 09/26/2026
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Found 36 publications
Pharmacogenetic Testing in Patients with Autism Spectrum Disorder Evaluated in a Precision Medicine Clinic.
Journal: Journal of developmental and behavioral pediatrics : JDBP
Published: January 13, 2023
A longitudinal study of cytochrome P450 2D6 (CYP2D6) activity during adolescence.
Journal: Clinical and translational science
Published: April 12, 2022
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 15, 2021
Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naïve.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 24, 2019
Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Journal: Cold Spring Harbor molecular case studies
Published: January 07, 2019
Using dried blood spots for variant analysis for patients with haemophilia.
Journal: Haemophilia : the official journal of the World Federation of Hemophilia
Published: December 12, 2018
Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.
Journal: Neurogenetics
Published: July 12, 2018
On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing.
Journal: Human mutation
Published: April 30, 2018
Clinical genome sequencing in an unbiased pediatric cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 15, 2018
Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.
Journal: NPJ genomic medicine
Published: December 22, 2017
Last Updated: 09/26/2026