Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 36 publications
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 11, 2025
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.
Journal: Human molecular genetics
Published: November 07, 2025
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 23, 2025
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 23, 2025
Advances in Prenatal Cell-Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical Implementation.
Journal: Prenatal diagnosis
Published: September 12, 2024
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Journal: American journal of human genetics
Published: July 24, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Journal: American journal of human genetics
Published: May 15, 2024
Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia.
Journal: American journal of medical genetics. Part A
Published: February 05, 2024
Novel variants in the SOX11 gene: clinical description of seven new patients.
Journal: European journal of human genetics : EJHG
Published: December 01, 2023
Homozygous deletion of the DSG3 terminal exon associated with acantholytic blistering of the oral and laryngeal mucosa.
Journal: American journal of medical genetics. Part A
Published: August 18, 2023
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Journal: American journal of human genetics
Published: April 04, 2023
Cardiovascular manifestations of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.
Journal: Vascular medicine (London, England)
Published: January 10, 2022
Last Updated: 09/26/2026