Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 7 publications
De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons.
Journal: medRxiv : the preprint server for health sciences
Published: January 02, 2026
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
Implementation of First-Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units.
Journal: American journal of medical genetics. Part A
Published: August 24, 2025
Implementation of First-Line Rapid Genome Sequencing in Non-Critical Care Pediatric Wards.
Journal: The Journal of pediatrics
Published: April 05, 2025
Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro.
Journal: Molecular psychiatry
Published: September 16, 2024
Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity.
Journal: European journal of human genetics : EJHG
Published: June 20, 2024
"Why did I choose genetics?": A survey of current and recent medical genetics and genomics residents provides insight into recruitment efforts.
Journal: American journal of medical genetics. Part A
Published: December 01, 2023
Showing 1-7 of 7
Last Updated: 09/26/2026