Dana M. Jensen YOU? Author Swipe

Last 10y

Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data Open

Yoo-Jin Ha, Dominika Maziec, Julia Markowski, Stephanie Georges, Nancy L. Parmalee , et al. · 2025

Mosaic mutations in normal tissues occur at low variant allele fractions (VAFs), complicating detection. To benchmark strategies, the SMaHT Network created a cell-line mixture (1:49) and produced ultra-deep whole-genome sequencing using sh…

A telomere-to-telomere map of somatic mutation burden and functional impact in cancer Open

Min-Hwan Sohn, Danilo Dubocanin, Mitchell R. Vollger, Young-Jun Kwon, Anna Minkina , et al. · 2025

Oncogenesis involves widespread genetic and epigenetic alterations, yet the full spectrum of somatic variation genome-wide remains unresolved. We generated a near-telomere-to-telomere (T2T) diploid assembly of a donor paired with deep shor…

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing Open

Alexandra C Keefe, Dana M. Jensen, Minh Tu Pham, Natalie Y.T. Au, Erika Beckman , et al. · 2025

P014: Multiple cases of mosaic X-linked adrenoleukodystrophy in males identified through newborn screening Open

Alexandra Keefe, Dana M. Jensen, Renee Bend, Michelle M. Morrow, Paul Kruszka , et al. · 2024

X-linked adrenoleukodystrophy (X-ALD) is a metabolic disorder affecting ∼1:15000 individuals. X-ALD is caused by variants in ABCD1 (located at Xq28), which encodes an ATP-binding cassette and is responsible for importing very long chain fa…

Upregulated MicroRNA-21 Drives the Proliferation of Lymphatic Malformation Endothelial Cells by Inhibiting PDCD4 Open

Ravi W. Sun, Haihong Zhang, Syed Jafar Mehdi, Gresham T. Richter, Hayden H. Bowman , et al. · 2023

Primary targeted medical therapy for management of bilateral head and neck lymphatic malformations in infants Open

Clare Richardson, Jonathan N. Perkins, Kaitlyn Zenner, Catherine Bull, Erika Lutsky , et al. · 2022

Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth Open

Tara Wenger, Sheila Ganti, Catherine Bull, Erika Lutsky, James T. Bennett , et al. · 2022

Somatic activating BRAF variants cause isolated lymphatic malformations Open

Kaitlyn Zenner, Dana M. Jensen, Victoria Dmyterko, Giridhar M. Shivaram, Candace T. Myers , et al. · 2022

Somatic activating variants in PIK3CA, the gene that encodes the p110α catalytic subunit of phosphatidylinositol 3-kinase (PI3K), have been previously detected in ∼80% of lymphatic malformations (LMs).¹ ^,

eP282: Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth Open

Tara Wenger, Jonathan N. Perkins, Madeleine A. Drusin, Michael Bindschadler, Randall A. Bly , et al. · 2022

Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in PIK3CA Open

Sarah E. Sheppard, Victoria R. Sanders, Abhay Srinivasan, Laura S. Finn, Denise M. Adams , et al. · 2021

Disorganized morphogenesis of arteries, veins, capillaries, and lymphatic vessels results in vascular malformations. Most individuals with isolated vascular malformations have postzygotic (mosaic), activating pathogenic variants in a handf…

Somatic activating BRAF variants cause isolated lymphatic malformations Open

Kaitlyn Zenner, Dana M. Jensen, Victoria Dmyterko, Giridhar M. Shivaram, Candace T. Myers , et al. · 2021

Somatic activating variants in PIK3CA , the gene that encodes the p110 α catalytic subunit of PI3K, have been previously detected in ∼80% of lymphatic malformations (LM). 1; 2 We report the presence of somatic activating variants in BRAF i…

Acetylsalicylic acid suppression of the PI3K pathway as a novel medical therapy for head and neck lymphatic malformations Open

Juliana Bonilla‐Velez, Kathryn B. Whitlock, Sheila Ganti, Kaitlyn Zenner, Chi Vicky Cheng , et al. · 2021

Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations Open

Kaitlyn Zenner, Dana M. Jensen, Tori T. Cook, Victoria Dmyterko, Randall A. Bly , et al. · 2020

Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations Open

Kaitlyn Zenner, Chi Vicky Cheng, Dana M. Jensen, Andrew E. Timms, Giridhar M. Shivaram , et al. · 2019

Lymphatic malformations (LMs) are congenital, nonneoplastic vascular malformations associated with postzygotic activating PIK3CA mutations. The mutation spectrum within LMs is narrow, with the majority having 1 of 3 hotspot mutations. Desp…

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia Open

Darius Ebrahimi‐Fakhari, Julian Teinert, Robert Behne, Miriam Wimmer, Angelica D’Amore , et al. · 2019

Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 …

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia Open

Nynke Oosterhof, Irene J. Chang, Ehsan Ghayoor Karimiani, Laura E. Kuil, Dana M. Jensen , et al. · 2019

Characterization of a severe case of PIK3CA‐related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients Open

Andrew M. Piacitelli, Dana M. Jensen, Heather A. Brandling‐Bennett, Megan M. Gray, Maneesh Batra , et al. · 2018

PIK3CA ‐related overgrowth spectrum (PROS) refers to a group of disorders of segmental overgrowth of a wide variety of tissues as well as venous and lymphatic malformations. Clinical and molecular diagnosis can be challenging due to phenot…

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis Open

James T. Bennett, Tiong Yang Tan, Diana Alcantara, Martine Tétrault, Andrew E. Timms , et al. · 2016