Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 23 publications
A Rare Finding of Mosaic 45,XX,der(13;21)(q10;q10)[15]/46,XX,r(13)(p11.2q33) Following Abnormal Prenatal Chromosomal Microarray Testing.
Journal: Case reports in genetics
Published: March 23, 2026
Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype.
Journal: Molecular genetics and metabolism reports
Published: December 12, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Journal: Nature genetics
Published: June 16, 2024
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 09, 2024
Characteristics of Eyes With CRB1-Associated EOSRD/LCA: Age-Related Changes.
Journal: American journal of ophthalmology
Published: October 03, 2023
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Journal: Human molecular genetics
Published: May 12, 2023
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders.
Journal: European journal of human genetics : EJHG
Published: October 25, 2022
Membrane Frizzled-Related Protein-Related Disease Mimicking Idiopathic Intracranial Hypertension.
Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
Published: October 18, 2022
Bilateral consecutive choroidal neovascularization in Best vitelliform macular dystrophy.
Journal: Proceedings (Baylor University. Medical Center)
Published: June 27, 2022
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 22, 2021
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.
Journal: Pediatric neurology
Published: October 04, 2021
A novel variant in the TSPAN12 gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy.
Journal: European journal of ophthalmology
Published: June 21, 2021
Last Updated: 09/26/2026