Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

Autor: Smolen, Corrine, Jensen, Matthew, Dyer, Lisa, Pizzo, Lucilla, Tyryshkina, Anastasia, Banerjee, Deepro, Rohan, Laura, Huber, Emily, El Khattabi, Laila, Prontera, Paolo, Caberg, Jean-Hubert, Van Dijck, Anke, Schwartz, Charles, Faivre, Laurence, Callier, Patrick, Mosca-Boidron, Anne-Laure, Lefebvre, Mathilde, Pope, Kate, Snell, Penny, Lockhart, Paul J., Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Luana Mandarà, Giuseppa Maria, Bruccheri, Maria Grazia, Pichon, Olivier, Le Caignec, Cedric, Stoeva, Radka, Cuinat, Silvestre, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Nordsletten, Ashley, Martin-Coignard, Dominique, Sistermans, Erik, Kooy, R. Frank, Amor, David J., Romano, Corrado, Isidor, Bertrand, Juusola, Jane, Girirajan, Santhosh

Publikováno v: In The American Journal of Human Genetics 7 December 2023 110(12):2015-2028

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

Autor: Calì, Francesco, Chiavetta, Valeria, Ruggeri, Giuseppa, Piccione, Maria, Selicorni, Angelo, Palazzo, Daniela, Bonsignore, Maria, Cereda, Anna, Elia, Maurizio, Failla, Pinella, Figura, Maria Grazia, Fiumara, Agata, Maitz, Silvia, Luana Mandarà, Giuseppa Maria, Mattina, Teresa, Ragalmuto, Alda, Romano, Corrado, Ruggieri, Martino, Salluzzo, Roberto, Saporoso, Antonino, Schepis, Carmelo, Sorge, Giovanni, Spanò, Maria, Tortorella, Gaetano, Romano, Valentino

Publikováno v: In European Journal of Medical Genetics February 2017 60(2):93-99

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Autor: Ji-eun Yoon, Arjun Krishnan, Marie Vincent, Marco Fichera, Claire Beneteau, Erik A. Sistermans, Nathalie Marle, Luana Mandarà, Sau Wai Cheung, R. Frank Kooy, Teresa Mattina, Rachel L. Kember, Mathilde Nizon, Jill A. Rosenfeld, Alexandre Reymond, Bertrand Isidor, Sophie Blesson, Jean-Hubert Caberg, Cindy Skinner, Emanuela Avola, Charles Perrine, Paolo Prontera, Susan Zeesman, Małgorzata J.M. Nowaczyk, Kate Pope, Lucilla Pizzo, David J. Amor, Boris Keren, Matthew Jensen, Katrin Männik, Patrick Callier, Pawel Stankiewicz, Damian Pazuchanics, Els Voorhoeve, Ornella Galesi, Joris Andrieux, Lucia Castiglia, Anne Laure Mosca-Boidron, Mathilde Lefebvre, Charles E. Schwartz, Santhosh Girirajan, Elizabeth McCready, Anke Van Dijck, Sandra Mercier, Maja Bucan, Corrado Romano, Laurence Faivre, Francesca Mari, Dominique Martin-Coignard, Vijay Kumar, Alessandra Renieri, Andrew Polyak, Emily Huber, Cédric Le Caignec, Aurora Currò, Olivier Pichon

Publikováno v: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-018-0266-3⟩
Genetics in Medicine, 21(4), 816-825. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine, vol. 21, no. 4, pp. 816-825
Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, J A, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, Pope, K, Voorhoeve, E, Yoon, J, Stankiewicz, P, Cheung, S W, Pazuchanics, D, Huber, E, Kumar, V, Kember, R L, Mari, F, Curró, A, Castiglia, L, Galesi, O, Avola, E, Mattina, T, Fichera, M, Mandarà, L, Vincent, M, Nizon, M, Mercier, S, Bénéteau, C, Blesson, S, Martin-Coignard, D, Mosca-Boidron, A L, Caberg, J H, Bucan, M, Zeesman, S, Nowaczyk, M J M, Lefebvre, M, Faivre, L, Callier, P, Skinner, C, Keren, B, Perrine, C, Prontera, P, Marle, N, Renieri, A, Reymond, A, Kooy, R F, Isidor, B, Schwartz, C, Romano, C, Sistermans, E, Amor, D J, Andrieux, J & Girirajan, S 2019, ' Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants ', Genetics in Medicine, vol. 21, no. 4, pp. 816-825 . https://doi.org/10.1038/s41436-018-0266-3
Genetics in medicine

Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed quantitative cl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbf6c41b5e591ac3592571ea1af83d4b
http://www.scopus.com/inward/record.url?scp=85053071043&partnerID=8YFLogxK

A Multiplex PCR-Based Next-Generation Sequencing Approach Has Detected a Common Large Deletion in STS Gene in a Patient with X-Linked Ichthyosis

Autor: Marilena Galati Tardanico, Corrado Romano, Carmelo Schepis, Giuseppa Maria Luana Mandarà, Valentino Romano, V. Chiavetta, Giuseppa Ruggeri, Francesco Calì, Alda Ragalmuto, Roberto Salluzzo

Publikováno v: Journal of Biomedical Science and Engineering. :337-341

Several nuclear genes have been found to be linked to ichthyosis, and Next Generation Sequencing approach on panels of targeted genes has turned out to be particularly useful in analyzing diseases characterized by significant genetic and phenotypic h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::727f46d7feb5bf51d2deb90404adc702
https://doi.org/10.4236/jbise.2016.97028

JAG1 loss-of-function variations as a novel predisposing event in the pathogenesis of congenital thyroid defects

Autor: Sabrina Corbetta, Patrizia Porazzi, Mariacarolina Salerno, Paolo Prontera, Gabriella Nebbia, Natascia Tiso, Mohamad Maghnie, Roberto Gastaldi, Giovanna Weber, Daniela Frizziero, Laura Fugazzola, Luana Mandarà, Roberta Biffanti, Federica Marelli, Giorgio Radetti, Maria Cristina Vigone, Luca Persani, Tiziana de Filippis

Publikováno v: Europe PubMed Central

CONTEXT: The pathogenesis of congenital hypothyroidism (CH) is still largely unexplained. We previously reported that perturbations of the Notch pathway and knockdown of the ligand jagged1 cause a hypothyroid phenotype in the zebrafish. Heterozygous

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c503b84fc2252c736abc88a8c8b591cd
http://hdl.handle.net/11567/876561