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

Authors: 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

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

P270: The diagnostic dilemma of tissue specific mosaicism: A case of mosaic supernumerary chromosome 8 detected via buccal sample

Authors: Hubbel, Alexandra, Tallis, Eran, Rohan, Laura, Iqbal, M. Anwar

Source: In Genetics in Medicine Open 2024 2 Supplement 1

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OP099 - The relevance of deep genomic analyses in families with variably expressive CNVs in the era of personalized medicine.

Authors: Pizzo, Lucilla (AUTHOR), Jensen, Matthew (AUTHOR), Tyryshkina, Anastasia (AUTHOR), Smolen, Corrine (AUTHOR), Taylor, Cora (AUTHOR), Rohan, Laura (AUTHOR), Huber, Emily (AUTHOR), Snell, Penny (AUTHOR), Pope, Kate (AUTHOR), Pounraja, Vijay Kumar (AUTHOR), Rosenfeld, Jill (AUTHOR), McCready, Elizabeth (AUTHOR), Zeesman, Susan (AUTHOR), Nowaczyk, Małgorzata (AUTHOR), Schwartz, Charles (AUTHOR), Keren, Boris (AUTHOR), Perrine, Charles (AUTHOR), Prontera, Paolo (AUTHOR), Van Dijck, Anke (AUTHOR), Kooy, Frank (AUTHOR)

Source: Molecular Genetics & Metabolism. 2021 Supplement 1, Vol. 132, pS69-S69. 1p.

Subject Terms: *GENOMICS, *INDIVIDUALIZED medicine, *FAMILIES