Last Updated: 09/26/2026
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Found 24 publications
Hospital-wide implementation of inpatient first-tier rapid genome sequencing.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 14, 2025
Case Report: An atypical case of ARPKD highlights the utility and challenges of implementing genetic testing in cystic kidney disease.
Journal: Frontiers in pediatrics
Published: July 31, 2025
Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation.
Journal: Journal of inherited metabolic disease
Published: May 24, 2025
Case Report: a novel variant in WT1 leads to focal segmental glomerulosclerosis and uterovaginal anomalies through exon skipping.
Journal: Frontiers in nephrology
Published: December 09, 2024
Polyamine metabolism is dysregulated in COXFA4-related mitochondrial disease.
Journal: HGG advances
Published: December 06, 2024
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing.
Journal: Genetics in medicine open
Published: November 01, 2024
The dishevelled associated activator of morphogenesis protein 2 (Daam2) regulates neural tube closure.
Journal: Developmental dynamics : an official publication of the American Association of Anatomists
Published: November 04, 2023
Expanding EMC foldopathies: Topogenesis deficits alter the neural crest.
Journal: Genesis (New York, N.Y. : 2000)
Published: June 23, 2022
Mechanical stretch scales centriole number to apical area via Piezo1 in multiciliated cells.
Journal: eLife
Published: December 30, 2020
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
Journal: American journal of human genetics
Published: September 15, 2020
Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome.
Journal: Kidney international reports
Published: September 05, 2020
Last Updated: 09/26/2026