Search Results - "Paolucci, Sarah"

Multiple Copy Number Variants Detected by Noninvasive Prenatal Testing by Paolucci, Sarah A, Ma, Kimberly K, Paulson, Vera, Gadi, Vijayakrishna K, Lockwood, Christina M

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P716: Real-world implications of new population genomic datasets for clinical variant interpretation by Kumar, Runjun, Paolucci, Sarah, Williams, Brittany, Buchan, Jillian

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De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features by Harel, Tamar, Spicher, Camille, Scheer, Elisabeth, Buchan, Jillian G, Cech, Jennifer, Folland, Chiara, Frey, Tanja, Holtz, Alexander M, Innes, A Micheil, Keren, Boris, Macken, William L, Marcelis, Carlo, Otten, Catherine E, Paolucci, Sarah A, Petit, Florence, Pfundt, Rolph, Pitceathly, Robert D S, Rauch, Anita, Ravenscroft, Gianina, Sanchev, Rani, Steindl, Katharina, Tammer, Femke, Tyndall, Amanda, Devys, Didier, Vincent, Stéphane D, Elpeleg, Orly, Tora, László

“…Deubiquitination is crucial for the proper functioning of numerous biological pathways, such as DNA repair, cell cycle progression, transcription, signal…”
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Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions by Schönauer, Ria, Jin, Wenjun, Findeisen, Christin, Valenzuela, Irene, Devlin, Laura Alice, Murrell, Jill, Bedoukian, Emma C., Pöschla, Linda, Hantmann, Elena, Riedhammer, Korbinian M., Hoefele, Julia, Platzer, Konrad, Biemann, Ronald, Campeau, Philipp M., Münch, Johannes, Heyne, Henrike, Hoffmann, Anne, Ghosh, Adhideb, Sun, Wenfei, Dong, Hua, Noé, Falko, Wolfrum, Christian, Woods, Emily, Parker, Michael J., Neatu, Ruxandra, Le Guyader, Gwenael, Bruel, Ange-Line, Perrin, Laurence, Spiewak, Helena, Missotte, Isabelle, Fourgeaud, Melanie, Michaud, Vincent, Lacombe, Didier, Paolucci, Sarah A., Buchan, Jillian G., Glissmeyer, Margaret, Popp, Bernt, Blüher, Matthias, Sayer, John A., Halbritter, Jan

“…While common obesity accounts for an increasing global health burden, its monogenic forms have taught us underlying mechanisms via more than 20 single-gene…”
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Characterization of chicken thrombocyte responses to Toll-like receptor ligands by St Paul, Michael, Paolucci, Sarah, Barjesteh, Neda, Wood, R Darren, Schat, Karel A, Sharif, Shayan

“…Thrombocytes are the avian equivalent to mammalian platelets. In addition to their hemostatic effects, mammalian platelets rely in part on pattern recognition…”
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P630: Multi-modal testing, including long-read sequencing, to elucidate an unsolved case of dyskeratosis congenita by Jhuraney, Ankita, Paolucci, Sarah, Gibson, Sophia, Damaraju, Nikhita, Miller, Danny, Hayek, Jennifer, Dingmann, Bri, Buchan, Jillian

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Characterization of responses initiated by different Toll-like receptor 2 ligands in chicken spleen cells by St. Paul, Michael, Paolucci, Sarah, Sharif, Shayan

“…Toll-like receptors (TLRs) are pattern recognition receptors that mediate host responses to pathogens by promoting cellular activation and the production of…”
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Toll-like receptor ligands induce the expression of interferon-gamma and interleukin-17 in chicken CD4+ T cells by St Paul, Michael, Barjesteh, Neda, Paolucci, Sarah, Pei, Yanlong, Sharif, Shayan

“…Toll-like receptors (TLRs) are evolutionarily conserved pattern recognition receptors that mediate host responses to pathogens. To date, at least 10 different…”
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Woodhouse–Sakati syndrome in an Indian patient with a novel pathogenic variant by Amalnath, S. Deepak, Jothivanan, Oshima, Junko, Buchan, Jillian G., Paolucci, Sarah

“…Woodhouse–Sakati syndrome consists of hypogonadism, diabetes mellitus, alopecia, ECG abnormalities, and dystonia. This condition is caused by the loss of…”
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De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features: ATXN7L3 variants in developmental delay by Harel, Tamar, Spicher, Camille, Scheer, Elisabeth, Buchan, Jillian, Cech, Jennifer, Folland, Chiara, Frey, Tanja, Holtz, Alexander, Innes, a Micheil, Keren, Boris, Macken, William, Marcelis, Carlo, Otten, Catherine, Paolucci, Sarah, Petit, Florence, Pfundt, Rolph, Pitceathly, Robert, Rauch, Anita, Ravenscroft, Gianina, Sanchev, Rani, Steindl, Katharina, Tammer, Femke, Tyndall, Amanda, Devys, Didier, Vincent, Stéphane D., Elpeleg, Orly, Tora, László

“…Abstract Deubiquitination is critical for the proper functioning of numerous biological pathways such as DNA repair, cell cycle progression, transcription,…”
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Chicken erythrocytes respond to Toll-like receptor ligands by up-regulating cytokine transcripts by St Paul, Michael, Paolucci, Sarah, Barjesteh, Neda, Wood, R. Darren, Sharif, Shayan

“…Avian erythrocytes are nucleated cells of myeloid origin that are able to actively transcribe and translate proteins. Although their role in gas exchange and…”
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Treatment with ligands for toll-like receptors 2 and 5 induces a mixed T-helper 1- and 2-like response in chicken splenocytes by St Paul, Michael, Paolucci, Sarah, Sharif, Shayan

“…Toll-like receptors (TLRs) play an important role in the induction of host responses to pathogens. Interactions between TLRs and their ligands result in the…”
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Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract by Münch, Johannes, Engesser, Marie, Schönauer, Ria, Hamm, J Austin, Hartig, Christin, Hantmann, Elena, Akay, Gulsen, Pehlivan, Davut, Mitani, Tadahiro, Coban Akdemir, Zeynep, Tüysüz, Beyhan, Shirakawa, Toshihiko, Dateki, Sumito, Claus, Laura R, van Eerde, Albertien M, Smol, Thomas, Devisme, Louise, Franquet, Hélène, Attié-Bitach, Tania, Wagner, Timo, Bergmann, Carsten, Höhn, Anne Kathrin, Shril, Shirlee, Pollack, Ari, Wenger, Tara, Scott, Abbey A, Paolucci, Sarah, Buchan, Jillian, Gabriel, George C, Posey, Jennifer E, Lupski, James R, Petit, Florence, McCarthy, Andrew A, Pazour, Gregory J, Lo, Cecilia W, Popp, Bernt, Halbritter, Jan

“…Congenital anomalies of the kidney and urinary tract (CAKUT) represent the most common cause of chronic kidney failure in children. Despite growing knowledge…”
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Characterization of responses elicited by Toll-like receptor agonists in cells of the bursa of Fabricius in chickens by St. Paul, Michael, Paolucci, Sarah, Read, Leah R., Sharif, Shayan

“…Toll-like receptors (TLRs) are an evolutionarily conserved group of pattern recognition receptors that play an important role in mediating host-responses to…”
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