Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 83 publications
Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.
Journal: Research square
Published: January 08, 2026
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature.
Journal: American journal of medical genetics. Part A
Published: December 02, 2025
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects.
Journal: American journal of medical genetics. Part A
Published: October 14, 2025
Rothmund-Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population.
Journal: American journal of medical genetics. Part A
Published: May 05, 2025
16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome.
Journal: Genes
Published: December 19, 2024
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
Journal: Nature communications
Published: December 18, 2024
A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromes.
Journal: Current biology : CB
Published: November 21, 2024
Clinical Characteristics of Patients With Kabuki Syndrome at a Single Tertiary Children's Hospital.
Journal: American journal of medical genetics. Part A
Published: September 11, 2024
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
Journal: medRxiv : the preprint server for health sciences
Published: January 23, 2024
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Journal: Human genetics
Published: November 22, 2023
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
Journal: Orphanet journal of rare diseases
Published: September 12, 2023
Last Updated: 09/26/2026