Publications by authors named "Raissa Relator"

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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

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, Raissa Relator

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, Raissa Relator

J Clin Invest· November 2025

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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Ghayda M Mirzaa, Keqin Yan, Raissa Relator, Mathieu Levesque, Pranisha Jayasinghe

Nat Commun· 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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Comparative transcriptomics of salivary basal cell adenoma and adenocarcinoma sustain linear neoplastic evolution and intertumor heterogeneity: classification and biological implications.
Yoshitsugu Mitani, Haneen Al-Maghrabi, Tatiana V Karpinets, Raissa T Relator, Lauren Hilder

J Pathol· July 2025

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Identification of genetic and non-genetic modifiers of genomic imprinting through screening of imprinted DMR methylation in humans.
Francesco Cecere, Raissa Relator, Michael Levy, Ankit Verma, Haley McConkey

Epigenetics Chromatin· July 2025

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Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses.
Jonna M E Männistö, Jasmin J Hopkins, Thomas I Hewat, Fatima Nasser, Joseph Burrage, Raissa Relator

J Clin Endocrinol Metab· April 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

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, Raissa Relator

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, Raissa Relator

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, Raissa Relator

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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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, Raissa Relator

Nat Commun· August 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, Raissa Relator

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, Raissa Relator

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, Raissa Relator

Eur J Hum Genet· June 2024

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Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Dmitrijs Rots, Kathleen Rooney, Raissa Relator, Jennifer Kerkhof, Haley McConkey

Clin 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, Raissa Relator

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, Raissa Relator

Genet Med· 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, Raissa Relator

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, Raissa Relator

medRxiv· October 2023

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