output
20112025
most citedKMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

119 citations

10 papers

q-bio.NC2025★ 119 cited

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

L Cif, D Demailly, JP Lin +112

Heterozygous mutations in KMT2B are associated with an early-onset, progressive, and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor feat…

cs.CL2024★ 10 cited

Vision-Language and Large Language Model Performance in Gastroenterology: GPT, Claude, Llama, Phi, Mistral, Gemma, and Quantized Models

Seyed Amir Ahmad Safavi-Naini, Shuhaib Ali, Omer Shahab +15

Background and Aims: This study evaluates the medical reasoning performance of large language models (LLMs) and vision language models (VLMs) in gastroenterology. Methods: We used…

stat.AP2021★ 3 cited

Accommodating heterogeneous missing data patterns for prostate cancer risk prediction

Matthias Neumair, Michael W. Kattan, Stephen J. Freedland +13

Objective: We compared six commonly used logistic regression methods for accommodating missing risk factor data from multiple heterogeneous cohorts, in which some cohorts do not co…

eess.IV2021★ 3 cited

Reproducibility and Evolution of Diffusion MRI Measurements within the Cervical Spinal Cord in Multiple Sclerosis

Haykel Snoussi, Emmanuel Caruyer, Benoit Combes +5

In Multiple Sclerosis (MS), there is a large discrepancy between the clinical observations and how the pathology is exhibited on brain images, this is known as the clinical-radiolo…

cs.LG2021★ 1 cited

Latent Space Arc Therapy Optimization

Noah Bice, Mohamad Fakhreddine, Ruiqi Li +5

Volumetric modulated arc therapy planning is a challenging problem in high-dimensional, non-convex optimization. Traditionally, heuristics such as fluence-map-optimization-informed…

q-bio.PE2020★ 33 cited

SIRNet: Understanding Social Distancing Measures with Hybrid Neural Network Model for COVID-19 Infectious Spread

Nicholas Soures, David Chambers, Zachariah Carmichael +5

The SARS-CoV-2 infectious outbreak has rapidly spread across the globe and precipitated varying policies to effectuate physical distancing to ameliorate its impact. In this study,…