Search Results - "Pizzo, Lucilla"

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

“…Purpose To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare…”
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NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models by 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

“…The 1.6 Mbp deletion on chromosome 3q29 is associated with a range of neurodevelopmental disorders, including schizophrenia, autism, microcephaly, and…”
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Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster by 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

“…As opposed to syndromic CNVs caused by single genes, extensive phenotypic heterogeneity in variably-expressive CNVs complicates disease gene discovery and…”
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P579: Towards developing a comprehensive workflow for the identification of structural variants using clinical whole-genome sequencing by Pizzo, Lucilla, Lewis, Tracey, Bolia, Ashini, O'Fallon, Brendan, Andersen, Erica, Best, Hunter

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Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion by Jensen, Matthew, Tyryshkina, Anastasia, Pizzo, Lucilla, Smolen, Corrine, Das, Maitreya, Huber, Emily, Krishnan, Arjun, Girirajan, Santhosh

“…Recent studies have suggested that individual variants do not sufficiently explain the variable expressivity of phenotypes observed in complex disorders. For…”
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Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis by 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

“…We previously identified a deletion on chromosome 16p12.1 that is mostly inherited and associated with multiple neurodevelopmental outcomes, where severely…”
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Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development by Yusuff, Tanzeen, Jensen, Matthew, Yennawar, Sneha, Pizzo, Lucilla, Karthikeyan, Siddharth, Gould, Dagny J, Sarker, Avik, Gedvilaite, Erika, Matsui, Yurika, Iyer, Janani, Lai, Zhi-Chun, Girirajan, Santhosh

“…While rare pathogenic copy-number variants (CNVs) are associated with both neuronal and non-neuronal phenotypes, functional studies evaluating these regions…”
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Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster by Iyer, Janani, Wang, Qingyu, Le, Thanh, Pizzo, Lucilla, Grönke, Sebastian, Ambegaokar, Surendra S, Imai, Yuzuru, Srivastava, Ashutosh, Troisí, Beatriz Llamusí, Mardon, Graeme, Artero, Ruben, Jackson, George R, Isaacs, Adrian M, Partridge, Linda, Lu, Bingwei, Kumar, Justin P, Girirajan, Santhosh

“…About two-thirds of the vital genes in the Drosophila genome are involved in eye development, making the fly eye an excellent genetic system to study cellular…”
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P603: Utility of cytogenomic SNP microarray for bone marrow failure syndrome patients by Pizzo, Lucilla, Zhao, Jian, Clayton, Adam, Feusier, Julie, Mani, Coumarane, Lewis, Zoe, Lasher, Rachel, Quigley, Denise, Rudd, Katharine, Andersen, Erica, Hong, Bo

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O20: Beyond the genome: RNA sequencing resolves unique diagnostic challenges by Lewis, Robert, Fulmer, Makenzie, Zhao, Jian, Pizzo, Lucilla, Wen, Ting, O'Shea, John, Nicholas, Thomas, Boyden, Steven, Viskochil, David, Longo, Nicola, Andrews, Ashley, Baldwin, Erin, Velinder, Matt, Butterfield, Russell, Dent, Karin, Santucci, Kourtney, Larson, Austin, Mao, Rong, Botto, Lorenzo, Bayrak-Toydemir, Pinar

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P485: Evaluating novel dosage sensitivity predictors for inclusion in the classification of recurrent copy number variants by Herriges, John, Runke, Cassandra, Lewis, Zoe, Pizzo, Lucilla, Coe, Bradley, Conlin, Laura, Hilton, Benjamin, Levy, Brynn, Vaags, Andrea, Zhang, Shulin, Martin, Christa, Andersen, Erica

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P536: 2q11.2 recurrent CNVs including TMEM127: A collaborative multi-center study to expand knowledge of neurodevelopmental phenotypes and pheochromocytoma/paraganglioma syndrome predisposition by Pizzo, Lucilla, Lewis, Zoe, Walsh, Lauren, Runke, Cassandra, Nõukas, Margit, Männik, Katrin, Tõnisson, Neeme, Thorland, Erik, Martin, Christa, Rudd, Katie, Andersen, Erica

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P665: Recommendations for the improvement of diagnostic yields in rare disease cases through the integration of structural variants into analytical pipelines by Nicholas, Thomas, Farrell, Andrew, Rynearson, Shawn, Holt, Carson, Boyden, Steven, Moore, Barry, Al-Sweel, Najla, Miller, Christine, Pizzo, Lucilla, Solorzano, Chelsea, Palmquist, Rachel, Andrews, Ashley, Mao, Rong, Bayrak-Toydemir, Pinar, Fredrickson, Eric, Noble, Katherine, Shayota, Brian, Bonkowsky, Joshua, Carey, John, Malone-Jenkins, Sabrina, Botto, Lorenzo, Quinlan, Aaron

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P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2 by Moore, Barry, Nicholas, Thomas, Mao, Rong, Shayota, Brian, Boyden, Steven, Solorzano, Chelsea, Palmquist, Rachel, Bayrak-Toydemir, Pinar, Noble, Katherine, Farrell, Andrew, Hernandez, Edgar, Rynearson, Shawn, Holt, Carson, Ward, Alistair, Fredrickson, Eric, Nicholson, Kelsey, Pattison, David, Zhao, Jian, Fulmer, Makenzie, Pizzo, Lucilla, Wen, Ting, O'Shea, John, Lewis, Robert, Reynolds, Hayley, Ostrander, Betsy, Best, Hunter, Brunelli, Luca, Yandell, Mark, Marth, Gabor, Quinlan, Aaron, Carey, John, Tristani-Firouzi, Martin, Bonkowsky, Joshua, Malone-Jenkins, Sabrina

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P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care by Malone-Jenkins, Sabrina, Shayota, Brian, Solorzano, Chelsea, Palmquist, Rachel, Boyden, Steven, Moore, Barry, Nicholas, Thomas, Mao, Rong, Bayrak-Toydemir, Pinar, Noble, Katherine, Farrell, Andrew, Hernandez, Edgar, Rynearson, Shawn, Holt, Carson, Ward, Alistair, Al-Sweel, Najla, Zhao, Jian, Fulmer, Makenzie, Pizzo, Lucilla, Wen, Ting, O'Shea, John, Lewis, Robert, Reynolds, Hayley, Fredrickson, Eric, Nicholson, Kelsey, Pattison, David, Best, Hunter, Brunelli, Luca, Yandell, Mark, Marth, Gabor, Quinlan, Aaron, Carey, John, Tristani-Firouzi, Martin, Bonkowsky, Joshua

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Detection of Germline Structural Variants Using Short-Read Whole-Genome Sequencing by Pizzo, Lucilla, Andersen, Erica F., Best, Hunter

“…Structural variants (SVs), including unbalanced copy-number variants as well as balanced rearrangements, play a crucial role in human genetic conditions…”
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46. Clinical SNP-array adds value to diagnosis and surveillance of bone marrow failure syndromes by Pizzo, Lucilla, Zhao, Jian, Shimamura, Akiko, Lewis, Sara, Wlodarski, Marcin, Hong, Bo, Andersen, Erica

“…Cytogenomic SNP microarray (SNP-A) utilization for diagnosis and monitoring of bone marrow failure syndromes (BMFS) is increasing. Understanding the biology of…”
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OP041: Implementation of 2019 ACMG technical standards for the interpretation and reporting of constitutional CNVs: Experiences from an academic reference laboratory by Zhao, Jian, Zoe, Lewis, Reich, Daniel, Chapin, Alexander, Clayton, Adam, Clyde, Benjamin, Cox, Julie, Fulmer, Makenzie, Hong, Bo, Lamb, Allen, Mani, Coumarane, Pizzo, Lucilla, Quigley, Denise, Rushton, Patricia, Schultz, Roger, Tidwell, Timothy, Wen, Ting, Mendoza, Cinthya Zepeda, Andersen, Erica

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

“…We examined more than 97,000 families from four neurodevelopmental disease cohorts and the UK Biobank to identify phenotypic and genetic patterns in parents…”
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Clinical utility gene card for: 16p12.2 microdeletion by Pizzo, Lucilla, Andrieux, Joris, Amor, David J, Girirajan, Santhosh

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