Last Updated: 09/26/2026
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Found 22 publications
Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomes.
Journal: NPJ genomic medicine
Published: September 24, 2025
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Journal: American journal of human genetics
Published: September 19, 2022
Deletion at an 1q24 locus reveals a critical role of long noncoding RNA DNM3OS in skeletal development.
Journal: Cell & bioscience
Published: October 11, 2020
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Journal: American journal of medical genetics. Part A
Published: September 28, 2020
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Journal: American journal of human genetics
Published: December 28, 2019
Detecting mosaic variants in patients with somatic overgrowth syndromes using cell-free circulating DNA and deep sequencing.
Journal: Journal of medical genetics
Published: November 20, 2019
Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature.
Journal: Molecular cytogenetics
Published: February 08, 2019
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Journal: American journal of human genetics
Published: September 08, 2018
Intracranial Calcifications in Young Children.
Journal: Seminars in pediatric neurology
Published: July 03, 2018
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions.
Journal: American journal of medical genetics. Part A
Published: April 17, 2018
De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder.
Journal: European journal of medical genetics
Published: December 28, 2017
Neuroradiographic findings in 22q11.2 deletion syndrome.
Journal: American journal of medical genetics. Part A
Published: January 10, 2017
Last Updated: 09/26/2026