Elizabeth R. Roeder
Medical Genetics
333 N. Santa Rosa St.
2nd Floor, Floor 2
San Antonio, TX 78207
2nd Floor, Floor 2
San Antonio, TX 78207
Last Updated: 09/26/2026
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Found 48 publications
A holistic approach is needed for women with an inflammatory arthritis in the different phases around pregnancy; the results of the CAPRI study.
Journal: Frontiers in global women's health
Published: October 07, 2024
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
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Journal: The Journal of clinical investigation
Published: April 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
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Journal: American journal of medical genetics. Part A
Published: March 23, 2023
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 21, 2022
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Journal: American journal of human genetics
Published: December 14, 2022
Recommending revised hepatoblastoma surveillance in children with a pathogenic ARID1A variant. Reply to "Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma" by Cárcamo et al. 2022.
Journal: European journal of medical genetics
Published: October 28, 2022
Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial.
Journal: The Journal of clinical endocrinology and metabolism
Published: September 30, 2022
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Journal: American journal of human genetics
Published: September 19, 2022
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences.
Journal: Journal of medical genetics
Published: April 12, 2022
Last Updated: 09/26/2026