Publications by authors named "Elizabeth T Dechene"

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Clinical Characteristics of Patients With Kabuki Syndrome at a Single Tertiary Children's Hospital.
Victoria Dortenzio, Lidija Barbaric, Elizabeth Rosenfeld, Elizabeth T Dechene, Melissa A Gilbert

Am J Med Genet A· June 2025

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Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
Robert Chen, Maria Alejandra Diaz-Miranda, Erfan Aref-Eshghi, Tiffiney R Hartman, Christopher Griffith, Elizabeth T Dechene

Hum Mutat· December 2022

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Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
Jill R Murrell, Addie May I Nesbitt, Samuel W Baker, Kieran B Pechter, Jorune Balciuniene, Elizabeth T DeChene

J Mol Diagn· March 2022

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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Dara Tolchin, Jessica P Yeager, Priya Prasad, Naghmeh Dorrani, Alvaro Serrano Russi, Elizabeth T DeChene

Am J Hum Genet· June 2020

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Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.
Jorune Balciuniene, Elizabeth T DeChene, Gozde Akgumus, Edward J Romasko, Kajia Cao

JAMA Netw Open· April 2019

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Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations.
Tova Hershkovitz, Alina Kurolap, Noa Ruhrman-Shahar, Daniel Monakier, Elizabeth T DeChene

Am J Med Genet A· March 2019

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Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
Samuel W Baker, Jill R Murrell, Addie I Nesbitt, Kieran B Pechter, Jorune Balciuniene, Elizabeth T DeChene

J Mol Diagn· January 2019

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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sarah Sheppard, Sawona Biswas, Mindy H Li, Vijayakumar Jayaraman, Ian Slack, Elizabeth T DeChene

Genet Med· December 2018

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PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism.
Edward J Romasko, Elizabeth T DeChene, Jorune Balciuniene, Gozde T Akgumus, Ingo Helbig

Epilepsy Res· September 2018

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Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
Mindy H Li, Jenica L Abrudan, Matthew C Dulik, Ariella Sasson, Joshua Brunton, Elizabeth T DeChene

Hum Genomics· July 2015

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Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
Phillipa J Lamont, William Wallefeld, David Hilton-Jones, Bjarne Udd, Zohar Argov, Elizabeth T DeChene

Hum Mutat· July 2014

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Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology.
Aaron J Masino, Elizabeth T Dechene, Matthew C Dulik, Alisha Wilkens, Nancy B Spinner

BMC Bioinformatics· July 2014

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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Catherine A Brownstein, Alan H Beggs, Nils Homer, Barry Merriman, Timothy W Yu, Elizabeth T DeChene

Genome Biol· March 2014

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Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.
Jonathan S Berg, Laura M Amendola, Christine Eng, Eliezer Van Allen, Stacy W Gray, Elizabeth T DeChene

Genet Med· November 2013

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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ozge Ceyhan-Birsoy, Pankaj B Agrawal, Carlos Hidalgo, Klaus Schmitz-Abe, Elizabeth T DeChene

Neurology· October 2013

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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Johann Böhm, Valérie Biancalana, Elizabeth T Dechene, Marc Bitoun, Christopher R Pierson

Hum Mutat· June 2012

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Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Steven E Boyden, Lane J Mahoney, Genri Kawahara, Jennifer A Myers, Satomi Mitsuhashi, Elizabeth T DeChene

Neurogenetics· May 2012

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Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2).
Coen A C Ottenheijm, Pleuni Hooijman, Elizabeth T DeChene, Ger J Stienen, Alan H Beggs

J Struct Biol· May 2010

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Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
Michael W Lawlor, Elizabeth T Dechene, Emily Roumm, Amelia S Geggel, Behzad Moghadaszadeh

Hum Mutat· February 2010

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The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.
Vilma-Lotta Lehtokari, Rebecca S Greenleaf, Elizabeth T DeChene, Mutsumi Kellinsalmi, Katarina Pelin

Neuromuscul Disord· March 2009

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