Last Updated: 09/26/2026
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Found 5 publications
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Journal: European journal of human genetics : EJHG
Published: July 26, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Journal: European journal of human genetics : EJHG
Published: February 03, 2024
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 26, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Journal: European journal of human genetics : EJHG
Published: February 08, 2023
The first reported case of Loeys-Dietz syndrome in a patient with biallelic SMAD3 variants.
Journal: American journal of medical genetics. Part A
Published: April 13, 2020
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Last Updated: 09/26/2026