Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 38 publications
Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.
Journal: HGG advances
Published: November 02, 2025
Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome.
Journal: European journal of human genetics : EJHG
Published: November 20, 2024
Fluvoxamine for the treatment of COVID-19.
Journal: The Lancet. Global health
Published: November 26, 2021
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Journal: American journal of human genetics
Published: October 28, 2021
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Journal: Human mutation
Published: August 25, 2021
Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort.
Journal: Molecular genetics & genomic medicine
Published: December 18, 2020
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.
Journal: Human molecular genetics
Published: November 18, 2020
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism.
Journal: Annals of neurology
Published: December 04, 2018
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.
Journal: European journal of human genetics : EJHG
Published: November 19, 2018
Revising the Psychiatric Phenotype of Homocystinuria.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 01, 2018
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
Journal: European journal of human genetics : EJHG
Published: July 09, 2018
Last Updated: 09/26/2026