Last Updated: 09/26/2026
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Found 16 publications
Paleopathology Meets Public Health: Deep-Time Syndemics and the Ecology of Emerging Infections.
Journal: Pathogens (Basel, Switzerland)
Published: April 24, 2026
Hypermobile Ehlers-Danlos Syndrome: Diagnostic Challenges and the Role of Genetic Testing.
Journal: Genes
Published: April 10, 2025
Patient experiences of receiving a diagnosis of hypermobile Ehlers-Danlos syndrome.
Journal: American journal of medical genetics. Part A
Published: September 20, 2023
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.
Journal: American journal of medical genetics. Part A
Published: September 10, 2023
Prevalence of cardiovascular manifestations in patients with hypermobile Ehlers-Danlos syndrome at the University of Miami.
Journal: American journal of medical genetics. Part A
Published: July 26, 2022
ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy.
Journal: The application of clinical genetics
Published: June 25, 2022
Radiologic screening and surveillance in hereditary cancers.
Journal: European journal of radiology open
Published: February 05, 2022
A novel pathogenic variant at the C-terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability.
Journal: American journal of medical genetics. Part A
Published: October 21, 2021
Application of the ACMG/NSGC genetic referral guidelines for hereditary renal cell carcinoma at the University of Miami, from 2014 to 2017.
Journal: American journal of medical genetics. Part A
Published: April 28, 2021
First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature.
Journal: American journal of medical genetics. Part A
Published: September 16, 2020
Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies.
Journal: Molecular syndromology
Published: June 07, 2020
Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth.
Journal: American journal of medical genetics. Part A
Published: June 07, 2020
Last Updated: 09/26/2026