Helen N. Frederiksen
Lausanne, VD 1004, Switzerland
Last Updated: 09/26/2026
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Found 9 publications
Expanding the Genetic Landscape of Congenital Stationary Night Blindness Through the Analysis of Consanguineous Pakistani Families.
Journal: Genes
Published: March 05, 2026
Increased sensitivity to myopia and altered retinal ON/OFF balance in a mouse model lacking Dusp4.
Journal: bioRxiv : the preprint server for biology
Published: November 19, 2025
Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix-Saguenay type in two Pakistani patients.
Journal: Human genome variation
Published: October 13, 2025
A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family.
Journal: Human genome variation
Published: September 29, 2025
Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing.
Journal: International journal of molecular sciences
Published: January 17, 2025
ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 15, 2024
Mice Lacking Gpr179 with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia.
Mice Lacking Gpr179 with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia.
Journal: International journal of molecular sciences
Published: October 04, 2022
Shedding light on myopia by studying complete congenital stationary night blindness.
Journal: Progress in retinal and eye research
Published: June 03, 2022
CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Journal: Human mutation
Published: July 16, 2020
Showing 1-9 of 9
Last Updated: 09/26/2026