A. Stefanski

发表

Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures

M. Daly, I. Najm, D. Lal, 2020, Scientific Reports.

Characterizing Patient Representations for Computational Phenotyping

Adrianne L. Stefanski, G. Hripcsak, M. Kahn, 2022, medRxiv.

Wolfram syndrome in the Polish population: novel mutations and genotype–phenotype correlation

M. Borowiec, M. Szalecki, W. Młynarski, 2011, Clinical endocrinology.

Current knowledge of SLC6A1-related neurodevelopmental disorders

A. Scimemi, V. Crunelli, C. Brownstein, 2020, Brain communications.

A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity

J. Epplen, L. Arning, M. Genčík, 2003, Human mutation.

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis

E. Pestana-Knight, E. Pérez-Palma, C. Leu, 2020, medRxiv.

CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online

Ryan L. Collins, Daniel J. Blankenberg, P. May, 2022, medRxiv.

Incidence and prevalence of major epilepsy-associated brain lesions

I. Blümcke, I. Najm, E. Pérez-Palma, 2022, Epilepsy & behavior reports.

Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome

E. Pérez-Palma, Larry D Hartzell, Tobias Brünger, 2023, Human Mutation.

Identification and quantification of oligogenic loss-of-function disorders.

C. Leu, M. McHugh, A. Stefanski, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

P. May, P. Striano, A. Wuster, 2023, Brain : a journal of neurology.