Publications by authors named "Matthew Tedder"

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Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses.
Yutaka Furuta, Kimberly M Ezell, Rizwan Hamid, Joy D Cogan, Thomas A Cassini, Matthew L Tedder

Mol Genet Genomic Med· December 2025

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Identification of an episignature for the MEF2C-associated syndrome.
Ananília Silva, Sadegheh Haghshenas, Liselot van der Laan, Michael A Levy, Raissa Relator, Matthew L Tedder

Eur J Hum Genet· November 2025

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DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.
Liselot van der Laan, Karim Karimi, Kathleen Rooney, Mariëlle Alders, Alfredo Brusco, Matthew A Tedder

Eur J Hum Genet· September 2025

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Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.
Karim Karimi, Yael Lichtenstein, Jack Reilly, Haley McConkey, Raissa Relator, Matthew L Tedder

Am J Hum Genet· February 2025

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Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha.
Ryan J German, Blake Vuocolo, Liesbeth Vossaert, Lisa Saba, Robin Fletcher, Matthew L Tedder

Am J Med Genet A· January 2025

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Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.
Pleuntje J van der Sluijs, Sébastien Moutton, Alexander J M Dingemans, Denisa Weis, Michael A Levy, Matthew A Tedder

Genet Med· January 2025

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Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.
Camilla Sarli, Liselot van der Laan, Jack Reilly, Slavica Trajkova, Diana Carli, Matthew L Tedder

Am J Med Genet C Semin Med Genet· December 2024

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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael Levy, Alexander J M Dingemans, Matthew L Tedder

Am J Hum Genet· August 2024

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Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.
Sadegheh Haghshenas, Karim Karimi, Roger E Stevenson, Michael A Levy, Raissa Relator, Matthew L Tedder

Am J Hum Genet· August 2024

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Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.
Christy W LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E Pennington, Sophie J Russ-Hall, Matthew L Tedder

Nat Commun· August 2024

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The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Niels Vos, Sadegheh Haghshenas, Liselot van der Laan, Perle K M Russel, Kathleen Rooney, Matthew L Tedder

Hum Genet· June 2024

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Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Jennifer Kerkhof, Cassandra Rastin, Michael A Levy, Raissa Relator, Haley McConkey, Matthew L Tedder

Genet Med· May 2024

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Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.
Karim Karimi, Merel O Mol, Sadegheh Haghshenas, Raissa Relator, Michael A Levy, Matthew L Tedder

Genet Med· March 2024

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Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Quentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, Chloé Trouvé, Jeanne Amiel, Matthew Tedder

Genet Med· January 2024

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Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A Skinner, Jack Reilly, Matthew L Tedder

Eur J Hum Genet· December 2023

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Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.
Christy W LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E Pennington, Sophie J Russ-Hall, Matthew L Tedder

medRxiv· October 2023

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Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy.
Sadegheh Haghshenas, Aidin Foroutan, Pratibha Bhai, Michael A Levy, Raissa Relator, Matthew L Tedder

Eur J Hum Genet· August 2023

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DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with / variants.
Niels Vos, Jack Reilly, Mariet W Elting, Philippe M Campeau, David Coman, Matthew L Tedder

Epigenomics· March 2023

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DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Jet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael A Levy, Matthew L Tedder

Genet Med· January 2023

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Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Michael A Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, Jennifer Kerkhof, Matthew L Tedder

Hum Mutat· November 2022

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Episignature Mapping of Provides Functional Insight into Clark-Baraitser Syndrome.
Liselot van der Laan, Kathleen Rooney, Mariëlle Alders, Raissa Relator, Haley McConkey, Matthew L Tedder

Int J Mol Sci· November 2022

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The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Alexander J M Dingemans, Kim M G Truijen, Sam van de Ven, Raphael Bernier, Ernie M H F Bongers, Matthew L Tedder

Transl Psychiatry· October 2022

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Near complete deletion of KMT2D in a college student.
Catherine Gooch, Jaclyn Paige Souder, Matthew L Tedder, Jennifer Kerkhof, Jennifer A Lee

Am J Med Genet A· May 2022

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DNA methylation episignature in Gabriele-de Vries syndrome.
Florian Cherik, Jack Reilly, Jennifer Kerkhof, Michael Levy, Haley McConkey, Matthew L Tedder

Genet Med· April 2022

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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Michael A Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Matthew L Tedder

HGG Adv· January 2022

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