Publications by authors named "Hunter Underhill"

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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Hunter Underhill

Nat Genet· November 2025

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The insidious degeneration of white matter and cognitive decline in Fabry disease.
Jacob W Johnson, Hediyeh Baradaran, Jubel Morgan, Henrik Odèen, Emma Friel, Hunter R Underhill

PLoS One· November 2025

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The Somatic Mosaicism across Human Tissues Network.
Tim H H Coorens, Ji Won Oh, Yujin Angelina Choi, Nam Seop Lim, Boxun Zhao, Hunter R Underhill

Nature· July 2025

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Subclonal Cancer Driver Mutations Are Prevalent in the Unresected Peritumoral Edema of Adult Diffuse Gliomas.
Hunter R Underhill, Michael Karsy, Christian J Davidson, Sabine Hellwig, Samuel Stevenson

Cancer Res· April 2024

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Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Amy G Jones, Matilde Aquilino, Rory J Tinker, Laura Duncan, Zandra Jenkins, Hunter R Underhill

Am J Hum Genet· April 2024

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Detection of circulating tumor DNA without a tumor-informed search using next-generation sequencing is a prognostic biomarker in pancreatic ductal adenocarcinoma.
Kajsa E Affolter, Sabine Hellwig, David A Nix, Mary P Bronner, Alun Thomas, Hunter R Underhill

Neoplasia· September 2021

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Leveraging the Fragment Length of Circulating Tumour DNA to Improve Molecular Profiling of Solid Tumour Malignancies with Next-Generation Sequencing: A Pathway to Advanced Non-invasive Diagnostics in Precision Oncology?
Hunter R Underhill

Mol Diagn Ther· July 2021

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Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.
Lot Snijders Blok, Arianna Vino, Joery den Hoed, Hunter R Underhill, Danielle Monteil

Genet Med· March 2021

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VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects.
Katie G Seu, Lisa R Trump, Sana Emberesh, Robert B Lorsbach, Clarissa Johnson, Hunter R Underhill

Am J Hum Genet· December 2020

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Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches.
Brent S Pedersen, Preetida J Bhetariya, Joe Brown, Stephanie N Kravitz, Gabor Marth, Hunter R Underhill

Genome Med· July 2020

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The stochastic nature of errors in next-generation sequencing of circulating cell-free DNA.
David A Nix, Sabine Hellwig, Christopher Conley, Alun Thomas, Carrie L Fuertes, Hunter R Underhill

PLoS One· May 2020

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Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.
Luca Brunelli, Sabrina M Jenkins, James M Gudgeon, Steven B Bleyl, Christine E Miller, Hunter R Underhill

Mol Genet Genomic Med· July 2019

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Automated size selection for short cell-free DNA fragments enriches for circulating tumor DNA and improves error correction during next generation sequencing.
Sabine Hellwig, David A Nix, Keith M Gligorich, John M O'Shea, Alun Thomas, Hunter R Underhill

PLoS One· December 2018

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DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.
Bobby G Ng, Hunter R Underhill, Lars Palm, Per Bengtson, Jean-Michel Rozet

JIMD Rep· August 2018

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A continuous-infusion dynamic MRI model at 3.0 Tesla for the serial quantitative evaluation of microvascular proliferation in an animal model of glioblastoma multiforme.
Hunter R Underhill

Magn Reson Med· November 2017

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Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
Colleen M Carlston, Anne H O'Donnell-Luria, Hunter R Underhill, Beryl B Cummings, Ben Weisburd

Hum Mutat· May 2017

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Fragment Length of Circulating Tumor DNA.
Hunter R Underhill, Jacob O Kitzman, Sabine Hellwig, Noah C Welker, Riza Daza

PLoS Genet· July 2016

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Detecting the effects of Fabry disease in the adult human brain with diffusion tensor imaging and fast bound-pool fraction imaging.
Hunter R Underhill, Katie Golden-Grant, Lauren T Garrett, Stefanie Uhrich, Brandon A Zielinski

J Magn Reson Imaging· December 2015

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Prediction of high-risk plaque development and plaque progression with the carotid atherosclerosis score.
Dongxiang Xu, Daniel S Hippe, Hunter R Underhill, Minako Oikawa-Wakayama, Li Dong

JACC Cardiovasc Imaging· April 2014

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Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L).
Hunter R Underhill, Si Houn Hahn, Susan L Hale, J Lawrence Merritt

Pediatr Int· December 2013

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Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
Ann E Davidson, Fazeel M Siddiqui, Michael A Lopez, Peter Lunt, Heather A Carlson, Hunter R Underhill

Brain· February 2013

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Characterization of distensibility, plaque burden, and composition of the atherosclerotic carotid artery using magnetic resonance imaging.
Gador Canton, Daniel S Hippe, Jie Sun, Hunter R Underhill, William S Kerwin

Med Phys· October 2012

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Sustained acceleration in carotid atherosclerotic plaque progression with intraplaque hemorrhage: a long-term time course study.
Jie Sun, Hunter R Underhill, Daniel S Hippe, Yunjing Xue, Chun Yuan

JACC Cardiovasc Imaging· August 2012

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MR imaging of carotid plaque composition during lipid-lowering therapy a prospective assessment of effect and time course.
Xue-Qiao Zhao, Li Dong, Tom Hatsukami, Binh An Phan, Baocheng Chu, Hunter Underhill

JACC Cardiovasc Imaging· September 2011

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Carotid artery atherosclerosis: effect of intensive lipid therapy on the vasa vasorum--evaluation by using dynamic contrast-enhanced MR imaging.
Li Dong, Williams S Kerwin, Huijun Chen, Baocheng Chu, Hunter R Underhill

Radiology· July 2011

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