Lisa A. Schimmenti - Publications

Clinical Utility of Rapid Whole-Genome Sequencing in Hospitalized Adults With Unexplained Neurologic Presentations.

Journal: Neurology

Published: June 16, 2026

Factors affecting trainees' preferred timing of clinical clerkships during MD-PhD training.

Journal: medRxiv : the preprint server for health sciences

Published: May 25, 2026

Factors affecting trainees' preferred timing of clinical clerkships during MD-PhD training.

Journal: medRxiv : the preprint server for health sciences

Published: May 25, 2026

Clinical, Genetic, and Endocrine Features of Bardet-Biedl Syndrome in a Pediatric and Adult Cohort.

Journal: American journal of medical genetics. Part A

Published: February 19, 2026

NF2-related Schwannomatosis Diagnosed Before and After 30 Years of Age: Differences in Disease Presentation and Rates of Positive Genetic Testing.

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Published: February 15, 2026

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome.

Journal: American journal of medical genetics. Part A

Published: December 19, 2025

MSTO1-related mitochondrial myopathy and ataxia syndrome: Case series and literature review.

Journal: Neuromuscular disorders : NMD

Published: October 24, 2025

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 09, 2025

ercc6 deficient zebrafish exhibit UV and metronidazole sensitivity, increased oxygen consumption, and impaired hair cell mechanoelectrical transduction which can be restored by the superoxide dismutase mimetic MnTBAP.

Journal: Human molecular genetics

Published: September 05, 2025

Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype-Phenotype Correlation.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: June 30, 2025

Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.

Journal: American journal of medical genetics. Part A

Published: May 29, 2025

Serous maculopathy in congenital cavitary optic disc anomaly: A case series.

Journal: American journal of ophthalmology case reports

Published: May 12, 2025