Molecular modeling of LDLR aids interpretation of genomic variants

por Klee, Eric W., Zimmermann, Michael T.
Publicado 2019

Evaluating eukaryotic secreted protein prediction

por Klee, Eric W, Ellis, Lynda BM
Publicado 2005

Computational Detection of Known Pathogenic Gene Fusions in a Normal Tissue Database and Implications for Genetic Disease Research

por Oliver, Gavin Robert, Jenkinson, Garrett, Klee, Eric W.
Publicado 2020

HELLO: improved neural network architectures and methodologies for small variant calling

por Ramachandran, Anand, Lumetta, Steven S., Klee, Eric W., Chen, Deming
Publicado 2021

Editorial: Clinical Genome Sequencing: Bioinformatics Challenges and Key Considerations

por Tian, Shulan, Tu, Zheng Jin, Yan, Huihuang, Klee, Eric W.
Publicado 2022

“The molecule’s the thing:” the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results

por Oliver, Gavin R., Zimmermann, Michael T., Klee, Eric W., Urrutia, Raul A.
Publicado 2016

Comparative analysis of de novo assemblers for variation discovery in personal genomes

por Tian, Shulan, Yan, Huihuang, Klee, Eric W, Kalmbach, Michael, Slager, Susan L
Publicado 2017

GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease

por Pinto e Vairo, Filippo, Bertsch, Nicole, Klee, Eric W., Gavrilova, Ralitza H.
Publicado 2018

Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties

por Zimmermann, Michael T., Urrutia, Raul, Cousin, Margot A., Oliver, Gavin R., Klee, Eric W.
Publicado 2018

Modeling post‐translational modifications and cancer‐associated mutations that impact the heterochromatin protein 1α‐importin α heterodimers

por Zimmermann, Michael T., Williams, Monique M., Klee, Eric W., Lomberk, Gwen A., Urrutia, Raul
Publicado 2019

Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants

por Muthusamy, Karthik, Ferrer, Alejandro, Klee, Eric W., Wierenga, Klaas J., Gavrilova, Ralitza H.
Publicado 2021

Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report

por Schultz-Rogers, Laura, Muthusamy, Karthik, Pinto e Vairo, Filippo, Klee, Eric W., Lanpher, Brendan
Publicado 2020

Varenicline for smoking cessation: efficacy, safety, and treatment recommendations

por Ebbert, Jon O, Wyatt, Kirk D, Hays, J Taylor, Klee, Eric W, Hurt, Richard D
Publicado 2010

AMOD: a morpholino oligonucleotide selection tool

por Klee, Eric W., Shim, Kyong Jin, Pickart, Michael A., Ekker, Stephen C., Ellis, Lynda B. M.
Publicado 2005

Three rare disease diagnoses in one patient through exome sequencing

por Ferrer, Alejandro, Schultz-Rogers, Laura, Kaiwar, Charu, Kemppainen, Jennifer L., Klee, Eric W., Gavrilova, Ralitza H.
Publicado 2019

LeafCutterMD: an algorithm for outlier splicing detection in rare diseases

por Jenkinson, Garrett, Li, Yang I, Basu, Shubham, Cousin, Margot A, Oliver, Gavin R, Klee, Eric W
Publicado 2020

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

por Conboy, Erin, Vairo, Filippo, Waggoner, Darrel, Ober, Carole, Das, Soma, Dhamija, Radhika, Klee, Eric W., Pichurin, Pavel
Publicado 2017

Expansion of PURA-Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report

por Boczek, Nicole J., Macke, Erica L., Kemppainen, Jennifer, Klee, Eric W., Renaud, Deborah L., Gavrilova, Ralitza H.
Publicado 2020

Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype–phenotype correlation, and phenotypic expansion of the Bosch–B...

por Kaiwar, Charu, Zimmermann, Michael T., Ferber, Matthew J., Niu, Zhiyv, Urrutia, Raul A., Klee, Eric W., Babovic-Vuksanovic, Dusica
Publicado 2017

Novel biallelic variants in MSTO1 associated with mitochondrial myopathy

por Schultz-Rogers, Laura, Ferrer, Alejandro, Dsouza, Nikita R., Zimmermann, Michael T., Smith, Benn E., Klee, Eric W., Dhamija, Radhika
Publicado 2019