Publications by authors named "Michael A Levy"

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Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome.
Liselot van der Laan, Raissa Relator, Irene Valenzuela, Adri N Mul, Mariëlle Alders, Michael A Levy

Genet Med· December 2025

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ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.
Clara Houdayer, Kathleen Rooney, Liselot van der Laan, Céline Bris, Mariëlle Alders, Michael A Levy

Eur J Hum Genet· November 2025

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PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Aymeric Masson, Julien Paccaud, Martina Orefice, Estelle Colin, Outi Mäkitie, Michael A Levy

J Clin Invest· November 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

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, Michael A Levy

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, Michael A Levy

Am J Hum Genet· February 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

Genet Med· January 2025

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CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.
Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, Kathleen Rooney, Sadegheh Haghshenas, Michael A Levy

HGG Adv· 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, Michael A Levy

Am J Med Genet C Semin Med Genet· December 2024

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Epigenomic and phenotypic characterization of DEGCAGS syndrome.
Karim Karimi, Denisa Weis, Ingvild Aukrust, Tzung-Chien Hsieh, Marie Horackova, Michael A Levy

Eur J Hum Genet· December 2024

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Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.
Sadegheh Haghshenas, Audrey Putoux, Jack Reilly, Michael A Levy, Raissa Relator

Genet Med· October 2024

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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Sadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, Michael A Levy, Jennifer Kerkhof

HGG Adv· October 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

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, Michael A Levy

Nat Commun· August 2024

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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Sadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, Michael A Levy, Jennifer Kerkhof

HGG Adv· July 2024

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DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.
Liselot van der Laan, Peter Lauffer, Kathleen Rooney, Ananília Silva, Sadegheh Haghshenas, Michael A Levy

HGG Adv· July 2024

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MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Remzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, Anoja Namasivayam, Jack Reilly, Michael A Levy

Am J Hum Genet· July 2024

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Identification of the DNA methylation signature of Mowat-Wilson syndrome.
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Michael A Levy

Eur J Hum Genet· June 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, Michael A Levy

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

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

Genet Med· March 2024

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DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.
Liselot van der Laan, Karim Karimi, Kathleen Rooney, Peter Lauffer, Haley McConkey, Michael A Levy

Genet Med· March 2024

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Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
María Del Rocío Pérez Baca, Eva Z Jacobs, Lies Vantomme, Pontus Leblanc, Elke Bogaert, Michael A Levy

Am J Hum Genet· March 2024

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Identification of a robust DNA methylation signature for Fanconi anemia.
Daria Pagliara, Andrea Ciolfi, Lucia Pedace, Sadegheh Haghshenas, Marco Ferilli, Michael A Levy

Am J Hum Genet· November 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, Michael A Levy

medRxiv· October 2023

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