Publications by authors named "Elizabeth Cadena"

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De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E de Bruijn, Elizabeth L Cadena

medRxiv· January 2025

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Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.
Suzanne E de Bruijn, Daan M Panneman, Nicole Weisschuh, Elizabeth L Cadena, Erica G M Boonen

Front Genet· October 2024

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History of Finding Genes and Mutations Causing Inherited Retinal Diseases.
Stephen P Daiger, Lori S Sullivan, Elizabeth L Cadena, Sara J Bowne

Cold Spring Harb Perspect Med· September 2024

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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
Benjamin Cogné, Xenia Latypova, Lokuliyanage Dona Samudita Senaratne, Ludovic Martin, Daniel C Koboldt, Elizabeth L Cadena

Am J Hum Genet· June 2020

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Detection of Large Structural Variants Causing Inherited Retinal Diseases.
Stephen P Daiger, Lori S Sullivan, Sara J Bowne, Elizabeth D Cadena, Dan Koboldt

Adv Exp Med Biol· February 2020

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Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP).
Stephen P Daiger, Sara J Bowne, Lori S Sullivan, Kari Branham, Dianna K Wheaton, Elizabeth D Cadena

Adv Exp Med Biol· May 2019

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Lipoarabinomannan in sputum to detect bacterial load and treatment response in patients with pulmonary tuberculosis: Analytic validation and evaluation in two cohorts.
Masanori Kawasaki, Carmenchu Echiverri, Lawrence Raymond, Elizabeth Cadena, Evelyn Reside

PLoS Med· April 2019

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Efficacy and safety of delamanid in combination with an optimised background regimen for treatment of multidrug-resistant tuberculosis: a multicentre, randomised, double-blind, placebo-controlled, parallel group phase 3 trial.
Florian von Groote-Bidlingmaier, Ramonde Patientia, Epifanio Sanchez, Vincent Balanag, Eduardo Ticona, Elizabeth Cadena

Lancet Respir Med· March 2019

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A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.
Lori S Sullivan, Sara J Bowne, Daniel C Koboldt, Elizabeth L Cadena, John R Heckenlively

Invest Ophthalmol Vis Sci· May 2017

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Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).
Stephen P Daiger, Lori S Sullivan, Sara J Bowne, Daniel C Koboldt, Susan H Blanton, Elizabeth D Cadena

Adv Exp Med Biol· April 2016

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A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.
Lori S Sullivan, Daniel C Koboldt, Sara J Bowne, Steven Lang, Susan H Blanton, Elizabeth Cadena

Invest Ophthalmol Vis Sci· September 2014

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Dentin sialoprotein in bone and dentin sialophosphoprotein gene expressed by osteoblasts.
Chunlin Qin, Jan C Brunn, Elizabeth Cadena, Amy Ridall, William T Butler

Connect Tissue Res· January 2004

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