output
19992025
most citedKMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

119 citations

20 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,…

stat.CO2019★ 3 cited

MM for Penalized Estimation

Zhu Wang

Penalized estimation can conduct variable selection and parameter estimation simultaneously. The general framework is to minimize a loss function subject to a penalty designed to g…

q-bio.GN2019★ 24 cited

Convolutional neural network models for cancer type prediction based on gene expression

Milad Mostavi, Yu-Chiao Chiu, Yufei Huang +1

Background Precise prediction of cancer types is vital for cancer diagnosis and therapy. Important cancer marker genes can be inferred through predictive model. Several studies hav…

cs.LG2018★ 33 cited

Generalized Inverse Optimization through Online Learning

Chaosheng Dong, Yiran Chen, Bo Zeng

Inverse optimization is a powerful paradigm for learning preferences and restrictions that explain the behavior of a decision maker, based on a set of external signal and the corre…

stat.ML2018★ 20 cited

Predicting drug response of tumors from integrated genomic profiles by deep neural networks

Yu-Chiao Chiu, Hung-I Harry Chen, Tinghe Zhang +5

The study of high-throughput genomic profiles from a pharmacogenomics viewpoint has provided unprecedented insights into the oncogenic features modulating drug response. A recent s…

stat.ML2018★ 62 cited

GSAE: an autoencoder with embedded gene-set nodes for genomics functional characterization

Hung-I Harry Chen, Yu-Chiao Chiu, Tinghe Zhang +3

Bioinformatics tools have been developed to interpret gene expression data at the gene set level, and these gene set based analyses improve the biologists' capability to discover f…

cs.GR2014★ 4 cited

Visualization and Correction of Automated Segmentation, Tracking and Lineaging from 5-D Stem Cell Image Sequences

Eric Wait, Mark Winter, Chris Bjornsson +5

Results: We present an application that enables the quantitative analysis of multichannel 5-D (x, y, z, t, channel) and large montage confocal fluorescence microscopy images. The i…

q-bio.BM2011★ 12 cited

Evaluation of Competing J domain:Hsp70 Complex Models in Light of Existing Mutational and NMR Data

Rui Sousa, Jianwen Jiang, Eileen M. Lafer +4

Ahmad et al. recently presented an NMR-based model for a bacterial DnaJ J domain:DnaK(Hsp70):ADP complex(1) that differs significantly from the crystal structure of a disulfide lin…

stat.AP2011

Latent rank change detection for analysis of splice-junction microarrays with nonlinear effects

Jonathan Gelfond, Lee Ann Zarzabal, Tarea Burton +3

Alternative splicing of gene transcripts greatly expands the functional capacity of the genome, and certain splice isoforms may indicate specific disease states such as cancer. Spl…

astro-ph.IM2010★ 5 cited

Evaluation of the Neutron Background in a Direct WIMP Detector with Neutron Veto System Based on Gd-doped Liquid Scintillator

Ye Xu, XiangPan Ji, ZeLong Liu +3

A direct WIMP (Weakly Interacting Massive Particle) detector with a neutron veto system is designed to better reject neutrons. Two experimental configurations are studied in the pr…

physics.bio-ph2005★ 13 cited

Towards Experimental Tests of Quantum Effects in Cytoskeletal Proteins

Andreas Mershin, Hugo Sanabria, John H. Miller +7

It has become increasingly evident that fabrication of novel biomaterials through molecular self-assembly is going to play a significant role in material science and possibly the i…

q-bio.QM2003★ 84 cited

Quantitative Imaging of Protein-Protein Interactions by Multiphoton Fluorescence Lifetime Imaging Microscopy using a Streak camera

R. V. Krishnan, A. Masuda, V. E. Centoze +1

Fluorescence Lifetime Imaging Microscopy (FLIM) using multiphoton excitation techniques is now finding an important place in quantitative imaging of protein-protein interactions an…

q-bio.QM2003★ 105 cited

Development of a Multiphoton Fluorescence Lifetime Imaging Microscopy (FLIM) system using a Streak Camera

R. V. Krishnan, H. Saitoh, H. Terada +2

We report the development and detailed calibration of a multiphoton fluorescence lifetime imaging system (FLIM) using a streak camera. The present system is versatile with high spa…

q-bio.CB2003★ 21 cited

Probing subtle fluorescence dynamics in cellular proteins by streak camera based Fluorescence Lifetime Imaging Microscopy

R. V. Krishnan, Eva Biener, Jian-Hua Zhang +2

We report the cell biological applications of a recently developed multiphoton fluorescence lifetime imaging microscopy system using a streak camera (StreakFLIM). The system was ca…

patt-sol1999★ 75 cited

Discrete stochastic modeling of calcium channel dynamics

Markus Baer, Martin Falcke, Herbert Levine +1

We propose a simple discrete stochastic model for calcium dynamics in living cells. Specifically, the calcium concentration distribution is assumed to give rise to a set of probabi…