Search Results - "Politi, Anya Revah"

Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease by Cappuccio, Gerarda, Ceccatelli Berti, Camilla, Baruffini, Enrico, Sullivan, Jennifer, Shashi, Vandana, Jewett, Tamison, Stamper, Tara, Maitz, Silvia, Canonico, Francesco, Revah‐Politi, Anya, Kupchik, Gabriel S., Anyane‐Yeboa, Kwame, Aggarwal, Vimla, Benneche, Andreas, Bratland, Eirik, Berland, Siren, D'Arco, Felice, Alves, Cesar A., Vanderver, Adeline, Longo, Daniela, Bertini, Enrico, Torella, Annalaura, Nigro, Vincenzo, D'Amico, Alessandra, Knaap, Marjo S., Goffrini, Paola, Brunetti‐Pierri, Nicola

“…KARS1 encodes a lysyl‐transfer RNA synthetase (LysRS) that links lysine to its cognate transfer RNA. Two different KARS1 isoforms exert functional effects in…”
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New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation by Roohi, Jasmin, Crowe, Jennifer, Loredan, Denis, Anyane-Yeboa, Kwame, Mansukhani, Mahesh M, Omesi, Lenore, Levine, Jennifer, Revah Politi, Anya, Zha, Shan

“…Ataxia-telangiectasia (A-T) is an autosomal recessive chromosome breakage disorder caused by mutations in the ATM gene. Typically, it presents in early…”
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Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease by Rönkkö, Julius, Molchanova, Svetlana, Revah‐Politi, Anya, Pereira, Elaine M., Auranen, Mari, Toppila, Jussi, Kvist, Jouni, Ludwig, Anastasia, Neumann, Julika, Bultynck, Geert, Humblet‐Baron, Stéphanie, Liston, Adrian, Paetau, Anders, Rivera, Claudio, Harms, Matthew B., Tyynismaa, Henna, Ylikallio, Emil

“…Objective ITPR3, encoding inositol 1,4,5‐trisphosphate receptor type 3, was previously reported as a potential candidate disease gene for Charcot‐Marie‐Tooth…”
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Genetic testing in individuals with cerebral palsy by May, Halie J, Fasheun, Jennifer A, Bain, Jennifer M, Baugh, Evan H, Bier, Louise E, Revah‐Politi, Anya, Roye, David P, Goldstein, David B, Carmel, Jason B, Lippa, Natalie, Vena, Natalie, Kushary, Sulagna, Hyman, Joshua, Hewson, Barbara, Marboe, Charles, Anyane‐Yeboa, Kwame, Aggarwal, Vimla

“…AIM To determine which patients with cerebral palsy (CP) should undergo genetic testing, we compared the rate of likely causative genetic variants from…”
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Mutations in TOP3A Cause a Bloom Syndrome-like Disorder by Martin, Carol-Anne, Sarlós, Kata, Logan, Clare V., Thakur, Roshan Singh, Parry, David A., Bizard, Anna H., Leitch, Andrea, Cleal, Louise, Ali, Nadia Shaukat, Al-Owain, Mohammed A., Allen, William, Altmüller, Janine, Aza-Carmona, Miriam, Barakat, Bushra A.Y., Barraza-García, Jimena, Begtrup, Amber, Bogliolo, Massimo, Cho, Megan T., Cruz-Rojo, Jaime, Dhahrabi, Hassan Ali Mundi, Elcioglu, Nursel H., Gorman, Gráinne S., Jobling, Rebekah, Kesterton, Ian, Kishita, Yoshihito, Kohda, Masakazu, Le Quesne Stabej, Polona, Malallah, Asam Jassim, Nürnberg, Peter, Ohtake, Akira, Okazaki, Yasushi, Pujol, Roser, Ramirez, Maria José, Revah-Politi, Anya, Shimura, Masaru, Stevens, Paul, Taylor, Robert W., Turner, Lesley, Williams, Hywel, Wilson, Carolyn, Yigit, Gökhan, Zahavich, Laura, Alkuraya, Fowzan S., Surralles, Jordi, Iglesias, Alejandro, Murayama, Kei, Wollnik, Bernd, Dattani, Mehul, Heath, Karen E., Hickson, Ian D., Jackson, Andrew P.

“…Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar…”
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The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield by Berkovic, Samuel F., Goldstein, David B., Heinzen, Erin L., Laughlin, Brandon L., Lowenstein, Daniel H., Lubbers, Laura, Stewart, Randall, Whittemore, Vicky, Angione, Kaitlin, Bazil, Carl W., Bier, Louise, Bluvstein, Judith, Brimble, Elise, Campbell, Colleen, Cavalleri, Gianpiero, Chambers, Chelsea, Choi, Hyunmi, Cilio, Maria Roberta, Ciliberto, Michael, Cornes, Susannah, Delanty, Norman, Demarest, Scott, Devinsky, Orrin, Dlugos, Dennis, Dubbs, Holly, Dugan, Patricia, Ernst, Michelle E., Gibbons, Melissa, Goodkin, Howard P., Helbig, Ingo, Jansen, Laura, Johnson, Kaleas, Joshi, Charuta, Lippa, Natalie C., Marsh, Eric, Martinez, Alejandro, Millichap, John, Mulhern, Maureen S., Numis, Adam, Park, Kristen, Pippucci, Tommaso, Poduri, Annapurna, Porter, Brenda, Regan, Brigid, Sands, Tristan T., Scheffer, Ingrid E., Schreiber, John M., Sheidley, Beth, Singhal, Nilika, Smith, Lacey, Sullivan, Joseph, Taylor, Alan, Tolete, Patricia, Afgani, Tahseen M., Aggarwal, Vimla, Burgess, Rosemary, Dixon‐Salazar, Tracy, Hemati, Parisa, Milder, Julie, Petrovski, Slavé, Revah‐Politi, Anya, Stong, Nicholas

“…Summary Objective The Epilepsy Genetics Initiative (EGI) was formed in 2014 to create a centrally managed database of clinically generated exome sequence data…”
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Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders by May, Halie J., Jeong, Jaehoon, Revah-Politi, Anya, Cohen, Julie S., Chassevent, Anna, Baptista, Julia, Baugh, Evan H., Bier, Louise, Bottani, Armand, Te Carminho A. Rodrigues, Maria resa, Conlon, Charles, Fluss, Joel, Guipponi, Michel, Kim, Chong Ae, Matsumoto, Naomichi, Person, Richard, Primiano, Michelle, Rankin, Julia, Shinawi, Marwan, Smith-Hicks, Constance, Telegrafi, Aida, Toy, Samantha, Uchiyama, Yuri, Aggarwal, Vimla, Goldstein, David B., Roche, Katherine W., Anyane-Yeboa, Kwame

“…In this study, we aimed to characterize the clinical phenotype of a SHANK1-related disorder and define the functional consequences of SHANK1 truncating…”
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P834: A genetic counselors watchlist: Framework for gene discovery by Lippa, Natalie, Bier, Louise, Mulhern, Maureen, Hemati, Parisa, May, Halie, Florido, Michelle, Kushary, Sulagna Tina, Vena, Natalie, Revah-Politi, Anya

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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay by Hiatt, Susan M, Neu, Matthew B, Ramaker, Ryne C, Hardigan, Andrew A, Prokop, Jeremy W, Hancarova, Miroslava, Prchalova, Darina, Havlovicova, Marketa, Prchal, Jan, Stranecky, Viktor, Yim, Dwight K C, Powis, Zöe, Keren, Boris, Nava, Caroline, Mignot, Cyril, Rio, Marlene, Revah-Politi, Anya, Hemati, Parisa, Stong, Nicholas, Iglesias, Alejandro D, Suchy, Sharon F, Willaert, Rebecca, Wentzensen, Ingrid M, Wheeler, Patricia G, Brick, Lauren, Kozenko, Mariya, Hurst, Anna C E, Wheless, James W, Lacassie, Yves, Myers, Richard M, Barsh, Gregory S, Sedlacek, Zdenek, Cooper, Gregory M

“…Mutations that alter signaling of RAS/MAPK-family proteins give rise to a group of Mendelian diseases known as RASopathies. However, among RASopathies, the…”
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Loss‐of‐function variants in NFIA provide further support that NFIA is a critical gene in 1p32‐p31 deletion syndrome: A four patient series by Revah‐Politi, Anya, Ganapathi, Mythily, Bier, Louise, Cho, Megan T., Goldstein, David B., Hemati, Parisa, Iglesias, Alejandro, Juusola, Jane, Pappas, John, Petrovski, Slavé, Wilson, Ashley L., Aggarwal, Vimla S., Anyane‐Yeboa, Kwame

“…The association between 1p32‐p31 contiguous gene deletions and a distinct phenotype that includes anomalies of the corpus callosum, ventriculomegaly,…”
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Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study by Rasouly, Hila Milo, Wynn, Julia, Marasa, Maddalena, Reingold, Rachel, Chatterjee, Debanjana, Kapoor, Sheena, Piva, Stacy, Kil, Byum Hee, Mu, Xueru, Alvarez, Maria, Nestor, Jordan, Mehl, Karla, Revah-Politi, Anya, Lippa, Natalie, Ernst, Michelle E., Bier, Louise, Espinal, Aileen, Haser, Bianca, Sinha, Anoushka, Halim, Ian, Fasel, David, Cuneo, Nicole, Thompson, Jacqueline J., Verbitsky, Miguel, Cohn, Elizabeth G., Goldman, Jill, Marder, Karen, Klitzman, Robert L., Orjuela, Manuela A., So, Yat S., Fedotov, Alex, Crew, Katherine D., Kiryluk, Krzysztof, Appelbaum, Paul S., Weng, Chunhua, Siegel, Karolynn, Gharavi, Ali G., Chung, Wendy K.

“…The original version of this Article contained an error in the undergraduate degree awarded to the author Ian Halim, which was incorrectly given as BS. This…”
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Causal Genetic Variants in Stillbirth by Stanley, Kate E, Giordano, Jessica, Thorsten, Vanessa, Buchovecky, Christie, Thomas, Amanda, Ganapathi, Mythily, Liao, Jun, Dharmadhikari, Avinash V, Revah-Politi, Anya, Ernst, Michelle, Lippa, Natalie, Holmes, Halie, Povysil, Gundula, Hostyk, Joseph, Parker, Corette B, Goldenberg, Robert, Saade, George R, Dudley, Donald J, Pinar, Halit, Hogue, Carol, Reddy, Uma M, Silver, Robert M, Aggarwal, Vimla, Allen, Andrew S, Wapner, Ronald J, Goldstein, David B

“…Little is known about the genetic causes of stillbirth. In this study, investigators used exome sequencing analysis to identify a genetic cause in a relatively…”
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Cerebral Palsy Genetics: Who to Test? by May, Halie J., Fasheun, Jennifer A., Bain, Jennifer M., Baugh, Evan H., Bier, Louise E., Revah-Politi, Anya, Roye, David P., Goldstein, David B., Carmel, Jason B.

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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures by Petrovski, Slavé, Küry, Sébastien, Myers, Candace T., Anyane-Yeboa, Kwame, Cogné, Benjamin, Bialer, Martin, Xia, Fan, Hemati, Parisa, Riviello, James, Mehaffey, Michele, Besnard, Thomas, Becraft, Emily, Wadley, Alexandrea, Politi, Anya Revah, Colombo, Sophie, Zhu, Xiaolin, Ren, Zhong, Andrews, Ian, Dudding-Byth, Tracy, Schneider, Amy L., Wallace, Geoffrey, Rosen, Aaron B.I., Schelley, Susan, Enns, Gregory M., Corre, Pierre, Dalton, Joline, Mercier, Sandra, Latypova, Xénia, Schmitt, Sébastien, Guzman, Edwin, Moore, Christine, Bier, Louise, Heinzen, Erin L., Karachunski, Peter, Shur, Natasha, Grebe, Theresa, Basinger, Alice, Nguyen, Joanne M., Bézieau, Stéphane, Wierenga, Klaas, Bernstein, Jonathan A., Scheffer, Ingrid E., Rosenfeld, Jill A., Mefford, Heather C., Isidor, Bertrand, Goldstein, David B.

“…Whole-exome sequencing of 13 individuals with developmental delay commonly accompanied by abnormal muscle tone and seizures identified de novo missense…”
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eP435: Issues in interpreting results in research genomic testing for common disorders: an example within an OCD cohort by Revah-Politi, Anya, Kushary, Sulagna (Tina), Vena, Natalie, May, Halie, Lippa, Natalie, Bier, Louise, Goldman, Jill, Alkelai, Anna, Baugh, Evan, Zoghbi, Anthony, Kayser, Reilly, Goldstein, David, Simpson, H. Blair

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Developmental epileptic encephalopathy in DLG4‐related synaptopathy by Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo‐Serrano, Angel, Ananth, Amitha L., Brea‐Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé‐Pichon, Anne‐Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández‐Jaén, Alberto, Fernández‐Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil‐Nagel, Antonio, Gómez‐Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, Maria K., Helin, Minttu, Hoyer, Juliane, Hurst, Anna C. E., Kallish, Staci, Karkare, Shefali N., Khan, Amjad, Kleinendorst, Lotte, Koch, Johannes, Kothare, Sanjeev V., Koudijs, Suzanna M., Lagae, Lieven, Lakeman, Phillis, Leppig, Kathleen A., Lesca, Gaetan, Lopergolo, Diego, Lusk, Laina, Mackenzie, Alex, Mei, Davide, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah‐Politi, Anya, Rheims, Sylvain, Rodríguez‐Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, Van Esch, Hilde, Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, Rubboli, Guido

“…Objective The postsynaptic density protein of excitatory neurons PSD‐95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants…”
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Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting by Lippa, Natalie, Bier, Louise, Revah-Politi, Anya, May, Halie, Kushary, Sulagna, Vena, Natalie, Giordano, Jessica L., Rasouly, Hila Milo, Cocchi, Enrico, Sands, Tristan T., Wapner, Ronald J., Anyane-Yeboa, Kwame, Gharavi, Ali G., Goldstein, David B.

“…The goal of stratified medicine is to identify subgroups of patients with similar disease mechanisms and specific responses to treatments. To prepare for…”
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NBEA: Developmental disease gene with early generalized epilepsy phenotypes by Mulhern, Maureen S., Stumpel, Constance, Stong, Nicholas, Brunner, Han G., Bier, Louise, Lippa, Natalie, Riviello, James, Rouhl, Rob P. W., Kempers, Marlies, Pfundt, Rolph, Stegmann, Alexander P. A., Kukolich, Mary K., Telegrafi, Aida, Lehman, Anna, Lopez‐Rangel, Elena, Houcinat, Nada, Barth, Magalie, den Hollander, Nicolette, Hoffer, Mariette J. V., Weckhuysen, Sarah, Roovers, Jolien, Djemie, Tania, Barca, Diana, Ceulemans, Berten, Craiu, Dana, Lemke, Johannes R., Korff, Christian, Mefford, Heather C., Meyers, Candace T., Siegler, Zsuzsanna, Hiatt, Susan M., Cooper, Gregory M., Bebin, E. Martina, Snijders Blok, Lot, Veenstra‐Knol, Hermine E., Baugh, Evan H., Brilstra, Eva H., Volker‐Touw, Catharina M. L., van Binsbergen, Ellen, Revah‐Politi, Anya, Pereira, Elaine, McBrian, Danielle, Pacault, Mathilde, Isidor, Bertrand, Le Caignec, Cedric, Gilbert‐Dussardier, Brigitte, Bilan, Frederic, Heinzen, Erin L., Goldstein, David B., Stevens, Servi J. C., Sands, Tristan T.

“…NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously…”
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eP377 - The Epilepsy Genetics Initiative: a final summary by Kushary, Sulagna (Tina), Bier, Louise, Lippa, Natalie, Revah-Politi, Anya, May, Halie, Vena, Natalie, Sands, Tristan, Aggarwal, Vimla, Baugh, Evan, Alkelai, Anna, Hostyk, Joseph, Jiang, Nan, Dharmadhikari, Avinash, Heinzen-Cox, Erin, Lowenstein, Dan, Berkovic, Sam, Goldstein, David

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The Epilepsy Genetics Initiative: a final summary by Kushary, Sulagna (Tina), Bier, Louise, Lippa, Natalie, Revah-Politi, Anya, May, Halie, Vena, Natalie, Sands, Tristan, Aggarwal, Vimla, Baugh, Evan, Alkelai, Anna, Hostyk, Joseph, Jiang, Nan, Dharmadhikari, Avinash, Heinzen-Cox, Erin, Lowenstein, Dan, Berkovic, Sam, Goldstein, David

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