Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion

por Jensen, Matthew, Tyryshkina, Anastasia, Pizzo, Lucilla, Smolen, Corrine, Das, Maitreya, Huber, Emily, Krishnan, Arjun, Girirajan, Santhosh
Publicado 2021

NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models

por Singh, Mayanglambam Dhruba, Jensen, Matthew, Lasser, Micaela, Huber, Emily, Yusuff, Tanzeen, Pizzo, Lucilla, Lifschutz, Brian, Desai, Inshya, Kubina, Alexis, Yennawar, Sneha, Kim, Sydney, Iyer, Janani, Rincon-Limas, Diego E., Lowery, Laura Anne, Girirajan, Santhosh
Publicado 2020

Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster

por Iyer, Janani, Singh, Mayanglambam Dhruba, Jensen, Matthew, Patel, Payal, Pizzo, Lucilla, Huber, Emily, Koerselman, Haley, Weiner, Alexis T., Lepanto, Paola, Vadodaria, Komal, Kubina, Alexis, Wang, Qingyu, Talbert, Abigail, Yennawar, Sneha, Badano, Jose, Manak, J. Robert, Rolls, Melissa M., Krishnan, Arjun, Girirajan, Santhosh
Publicado 2018

Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis

por Pizzo, Lucilla, Lasser, Micaela, Yusuff, Tanzeen, Jensen, Matthew, Ingraham, Phoebe, Huber, Emily, Singh, Mayanglambam Dhruba, Monahan, Connor, Iyer, Janani, Desai, Inshya, Karthikeyan, Siddharth, Gould, Dagny J., Yennawar, Sneha, Weiner, Alexis T., Pounraja, Vijay Kumar, Krishnan, Arjun, Rolls, Melissa M., Lowery, Laura Anne, Girirajan, Santhosh
Publicado 2021

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

por 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, Mandarà, Giuseppa Maria Luana, 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
Publicado 2023

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

por Pizzo, Lucilla, Jensen, Matthew, Polyak, Andrew, Rosenfeld, Jill A., Mannik, Katrin, Krishnan, Arjun, McCready, Elizabeth, Pichon, Olivier, Le Caignec, Cedric, Van Dijck, Anke, Pope, Kate, Voorhoeve, Els, Yoon, Jieun, Stankiewicz, Paweł, Cheung, Sau Wai, Pazuchanics, Damian, Huber, Emily, Kumar, Vijay, Kember, Rachel L., Mari, Francesca, Curró, Aurora, Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Mandarà, Luana, Vincent, Marie, Nizon, Mathilde, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Martin-Coignard, Dominique, Mosca-Boidron, Anne-Laure, Caberg, Jean-Hubert, Bucan, Maja, Zeesman, Susan, Nowaczyk, Małgorzata J. M., Lefebvre, Mathilde, Faivre, Laurence, Callier, Patrick, Skinner, Cindy, Keren, Boris, Perrine, Charles, Prontera, Paolo, Marle, Nathalie, Renieri, Alessandra, Reymond, Alexandre, Kooy, R. Frank, Isidor, Bertrand, Schwartz, Charles, Romano, Corrado, Sistermans, Erik, Amor, David J., Andrieux, Joris, Girirajan, Santhosh
Publicado 2018