Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions
Year: 2025
Type: article
Language: en
Topic: Genomics and Rare Diseases
Authors and affiliations:
raw_author_name: Maria Cerminara
raw_affiliation_strings: Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy
raw_author_name: Giovanni Spirito
raw_affiliation_strings: Non-coding RNAs and RNA-based therapeutics, Italian Institute of Technology (IIT), CMP(3)VdA, Aosta, Italy
Non-coding RNAs and RNA-based therapeutics, Italian Institute of Technology (IIT), CMP3VdA, 11100 Aosta, Italy
raw_author_name: Luca Pandolfini
raw_affiliation_strings: Genomic Facility, Italian Institute of Technology (IIT), Genova, Italy
Genomic Facility, Italian Institute of Technology (IIT), Via Enrico Melen 83, 16152 Genova, Italy
raw_author_name: Silvia Boeri
raw_affiliation_strings: Child Neuropsychiatry Unit, ERN EpiCARE Centre, IRCCS Istituto Giannina Gaslini, Genoa, Italy
raw_author_name: Giulia Rosti
raw_affiliation_strings: Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy; Clinical Genetics and Genomics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
raw_author_name: Margherita Mancardi
raw_affiliation_strings: Child Neuropsychiatry Unit, ERN EpiCARE Centre, IRCCS Istituto Giannina Gaslini, Genoa, Italy
raw_author_name: Livia Pisciotta
raw_affiliation_strings: Child Neuropsychiatry Unit, ASST Fatebenefratelli Sacco, Milan, Italy; University of Milan, Milan, Italy
raw_author_name: Marco Fontana
raw_affiliation_strings: Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy
raw_author_name: Alessandra Bianchi
raw_affiliation_strings: Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy
raw_author_name: Iris Chen
raw_affiliation_strings: Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy
raw_author_name: Loretta Ferrera
raw_affiliation_strings: Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
raw_author_name: Francesco Caroli
raw_affiliation_strings: Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
raw_author_name: Marco Di Duca
raw_affiliation_strings: Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
raw_author_name: Andrea Cavalli
raw_affiliation_strings: Computational and chemical biology, Italian Institute of Technology, CMP(3)VdA, 11100 Aosta, Italy; Centre Européen de Calcul Atomique et Moléculaire (CECAM), Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland; Center for Human Technologies, Computational and Chemical Biology, Fondazione Istituto Italiano di Tecnologia, Genoa, Italy
Computational and chemical biology, Italian Institute of Technology, CMP(3)VdA, 11100 Aosta, Italy; Centre Européen de Calcul Atomique et Moléculaire (CECAM), Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland; Center for Human Technologies, Computational and Chemical Biology, Fondazione Istituto Italiano di Tecnologia, Via Morego 30, 16163 Genoa, Italy
raw_author_name: Maria Teresa Divizia
raw_affiliation_strings: Clinical Genetics and Genomics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
raw_author_name: Elisa De Grandis
raw_affiliation_strings: Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy; Child Neuropsychiatry Unit, ERN EpiCARE Centre, IRCCS Istituto Giannina Gaslini, Genoa, Italy
raw_author_name: Silvia Casabona
raw_affiliation_strings: Child Neuropsychiatry Unit, ERN EpiCARE Centre, IRCCS Istituto Giannina Gaslini, Genoa, Italy
raw_author_name: Sara Trova
raw_affiliation_strings: Non-coding RNAs and RNA-based therapeutics, Italian Institute of Technology (IIT), CMP(3)VdA, Aosta, Italy
Non-coding RNAs and RNA-based therapeutics, Italian Institute of Technology (IIT), CMP3VdA, 11100 Aosta, Italy
raw_author_name: Diego Vozzi
raw_affiliation_strings: Genomic Facility, Italian Institute of Technology (IIT), Genova, Italy
Genomic Facility, Italian Institute of Technology (IIT), Via Enrico Melen 83, 16152 Genova, Italy
raw_author_name: Antonio Amoroso
raw_affiliation_strings: Non-coding RNAs and RNA-based therapeutics, Italian Institute of Technology (IIT), CMP(3)VdA, Aosta, Italy
Non-coding RNAs and RNA-based therapeutics, Italian Institute of Technology (IIT), CMP3VdA, 11100 Aosta, Italy
raw_author_name: Laure Obino
raw_affiliation_strings: Pediatric Neuropsychiatry, Healthcare agency of the Aosta Valley, Beauregard Hospital, Aosta, Italy
raw_author_name: Remo Sanges
raw_affiliation_strings: Genomic Facility, Italian Institute of Technology (IIT), Genova, Italy; Scuola Internazionale Superiore di Studi Avanzati (SISSA), Area of Neuroscience, Trieste, Italy
Genomic Facility, Italian Institute of Technology (IIT), Via Enrico Melen 83, 16152 Genova, Italy; Scuola Internazionale Superiore di Studi Avanzati (SISSA), Area of Neuroscience, Trieste, Italy
raw_author_name: Manuela Vecchi
raw_affiliation_strings: Non-coding RNAs and RNA-based therapeutics, Italian Institute of Technology (IIT), CMP(3)VdA, Aosta, Italy
Non-coding RNAs and RNA-based therapeutics, Italian Institute of Technology (IIT), CMP3VdA, 11100 Aosta, Italy
raw_author_name: Lino Nobili
raw_affiliation_strings: Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy; Child Neuropsychiatry Unit, ERN EpiCARE Centre, IRCCS Istituto Giannina Gaslini, Genoa, Italy
raw_author_name: Federico Zara
raw_affiliation_strings: Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy
raw_author_name: Stefano Gustincich
raw_affiliation_strings: Non-coding RNAs and RNA-based therapeutics, Italian Institute of Technology (IIT), CMP(3)VdA, Aosta, Italy; Genomic Facility, Italian Institute of Technology (IIT), Genova, Italy. Electronic address: stefano.gustincich@iit.it
Non-coding RNAs and RNA-based therapeutics, Italian Institute of Technology (IIT), CMP3VdA, 11100 Aosta, Italy; Genomic Facility, Italian Institute of Technology (IIT), Via Enrico Melen 83, 16152 Genova, Italy. Electronic address: aldamaria.puliti@unige.it
raw_author_name: Aldamaria Puliti
raw_affiliation_strings: Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy. Electronic address: aldamaria.puliti@unige.it