Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 54 publications
G-quadruplexes regulate chromatin accessibility and gene expression in Bloom Syndrome.
Journal: bioRxiv : the preprint server for biology
Published: March 23, 2026
Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split-Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study.
Journal: Birth defects research
Published: November 13, 2024
Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers.
Journal: medRxiv : the preprint server for health sciences
Published: February 19, 2024
Bloom syndrome patients and mice display accelerated epigenetic aging.
Journal: Aging cell
Published: March 20, 2023
Age of first cancer diagnosis and survival in Bloom syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 06, 2022
Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights.
Journal: Birth defects research
Published: December 07, 2021
A 12-Day-Old Female with Hypothermia, Hypoglycemia and Hyperbilirubinemia.
Journal: Pediatrics
Published: December 03, 2021
Descriptive and risk factor analysis of infantile cataracts: National Birth Defects Prevention Study, 2000-2011.
Journal: American journal of medical genetics. Part A
Published: July 20, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Journal: American journal of medical genetics. Part A
Published: February 15, 2021
Rapid genotype imputation from sequence with reference panels.
Journal: Nature genetics
Published: July 14, 2020
Left ventricular dysfunction in Duchenne muscular dystrophy.
Journal: Cardiology in the young
Published: January 23, 2020
Last Updated: 09/26/2026