Litcius/Paper detail

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

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

2023The American Journal of Human Genetics40 citationsDOIOpen Access PDF

Topics & Concepts

Assortative matingBiologyGeneticsMatingPathogenicityEvolutionary biologyMicrobiologyGenomic variations and chromosomal abnormalitiesGenetic Associations and EpidemiologyGenomics and Rare Diseases