检索结果 - Jones, Kelly L.

Molecular Viability Testing of Bacterial Pathogens from a Complex Human Sample Matrix 由 Weigel, Kris M., Jones, Kelly L., Do, Julie S., Melton Witt, Jody, Chung, Jae-Hyun, Valcke, Christian, Cangelosi, Gerard A.

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5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation 由 Quintero-Rivera, Fabiola, Eno, Celeste C., Sutanto, Christine, Jones, Kelly L., Nowaczyk, Małgorzata J.M., Wong, Derek, Earl, Dawn, Mirzaa, Ghayda, Beck, Anita, Martinez-Agosto, Julian A

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Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance 由 Jones, Kelly L., McNamara, Erin A., Longoni, Mauro, Miller, Danny E., Rohanizadegan, Mersedeh, Newman, Laura A., Hayes, Frances, Levitsky, Lynne L., Herrington, Betty L., Lin, Angela E.

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Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I 由 Peck, Dawn S., Lacey, Jean M., White, Amy L., Pino, Gisele, Studinski, April L., Fisher, Rachel, Ahmad, Ayesha, Spencer, Linda, Viall, Sarah, Shallow, Natalie, Siemon, Amy, Hamm, J. Austin, Murray, Brianna K., Jones, Kelly L., Gavrilov, Dimitar, Oglesbee, Devin, Raymond, Kimiyo, Matern, Dietrich, Rinaldo, Piero, Tortorelli, Silvia

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Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes 由 Dorschner, Michael O., Amendola, Laura M., Turner, Emily H., Robertson, Peggy D., Shirts, Brian H., Gallego, Carlos J., Bennett, Robin L., Jones, Kelly L., Tokita, Mari J., Bennett, James T., Kim, Jerry H., Rosenthal, Elisabeth A., Kim, Daniel S., Tabor, Holly K., Bamshad, Michael J., Motulsky, Arno G., Scott, C. Ronald, Pritchard, Colin C., Walsh, Tom, Burke, Wylie, Raskind, Wendy H., Byers, Peter, Hisama, Fuki M., Nickerson, Deborah A., Jarvik, Gail P.

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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases 由 Pena, Loren DM, Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca C., Walley, Nicole, Stong, Nicholas, Horn, Sarah Rapisardo, Sullivan, Jennifer A., McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edward C., El-Dairi, Mays, Bellet, Jane, Ann Keels, Martha, Jasien, Joan, Kranz, Peter G., Noel, Richard, Nagaraj, Shashi K., Lark, Robert K., Wechsler, Daniel SG, del Gaudio, Daniela, Leung, Marco L., Hendon, Laura G., Parker, Collette C., Jones, Kelly L., Goldstein, David B., Shashi, Vandana

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Turner syndrome in Diverse Populations 由 Kruszka, Paul, Addissie, Yonit A., Tekendo-Ngongang, Cedrik, Jones, Kelly L., Savage, Sarah K., Gupta, Neerja, Sirisena, Nirmala D., Cerda, Teresa E. Aravena, Nampoothiri, Sheela, Girisha, Katta M., Patil, Siddaramappa Jagdish, Jamuar, Saumya Shekhar, Utari, Agustini, Sihombing, Nydia, Mishra, Rupesh, Chitrakar, Neer Shoba, Iriele, Brenda, Lulseged, Ezana, Megarbane, Andre, Uwineza, Annette, Roque, Milagros M. Duenas, Thong, Meow-Keong, Moresco, Angélica, Obregon, María Gabriela, Ling, Tung Yuet, Mok, Gary TK, Fleischer, Nicole, Rwegerera, Godfrey, de Herreros, María Beatriz, Watts, Jonathan, Fieggen, Karen, Farouk, Dalia, Ashaat, Neveen A., Chung, Brian H.Y., Badoe, Eden, Faradz, Sultana MH, El-Ruby, Mona, Shotelersuk, Vorasuk, Wonkam, Ambroise, Ekure, Ekanem Nsikak, Richieri-Costa, Antonio, Muenke, Maximilian

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22q11.2 Deletion Syndrome in Diverse Populations 由 Kruszka, Paul, Addissie, Yonit A., McGinn, Daniel E., Porras, Antonio R., Biggs, Elijah, Share, Matthew, Crowley, T. Blaine, Chung, Brian H.Y., Mok, Gary T.K., Mak, Christopher CY, Muthukumarasamy, Premala, Thong, Meow-Keong, Sirisena, Nirmala D., Dissanayake, Vajira H.W., Paththinige, C. Sampath, Prabodha, L.B. Lahiru, Mishra, Rupesh, Shotelersuk, Vorasuk, Ekure, Ekanem Nsikak, Sokunbi, Ogochukwu Jidechukwu, Kalu, Nnenna, Ferreira, Carlos R., Duncan, Jordann-Mishael, Patil, Siddaramappa Jagdish, Jones, Kelly L., Kaplan, Julie D., Abdul-Rahman, Omar A., Uwineza, Annette, Mutesa, Leon, Moresco, Angélica, Obregon, María Gabriela, Richieri-Costa, Antonio, Gil-da-Silva-Lopes, Vera L, Adeyemo, Adebowale A., Summar, Marshall, Zackai, Elaine H., McDonald-McGinn, Donna M., Linguraru, Marius George, Muenke, Maximilian

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Noonan Syndrome in Diverse Populations 由 Kruszka, Paul, Porras, Antonio R., Addissie, Yonit A., Moresco, Angélica, Medrano, Sofia, Mok, Gary TK, Leung, Gordon KC, Tekendo-Ngongang, Cedrik, Uwineza, Annette, Thong, Meow-Keong, Muthukumarasamy, Premala, Honey, Engela, Ekure, Ekanem Nsikak, Sokunbi, Ogochukwu Jidechukwu, Kalu, Nnenna, Jones, Kelly L., Kaplan, Julie D., Abdul-Rahman, Omar A., Vincent, Lisa M., Love, Amber, Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Shukla, Anju, Girisha, Katta M., Patil, Siddaramappa Jagdish, Sirisena, Nirmala D., Dissanayake, Vajira H.W., Paththinige, C. Sampath, Mishra, Rupesh, Klein-Zighelboim, Eva, Gallardo Jugo, Bertha Elena, Chávez Pastor, Miguel, Barriga, Hugo Hernán Abarca, Skinner, Steven A., Prijoles, E.J., Badoe, Eben, Gill, Ashleigh D., Shotelersuk, Vorasuk, Smpokou, Patroula, Kisling, Monisha S., Ferreira, Carlos R., Mutesa, Leon, Megarbane, Andre, Okello, Emmy, Lwabi, Peter, Aliku, Twalib, Tenywa, Emmanuel, Boonchooduang, Nonglak, Tanpaiboon, Pranoot, Richieri-Costa, Antonio, Wonkam, Ambroise, Chung, Brian H. Y., Stevenson, Roger E., Summar, Marshall, Obregon, María Gabriela, Linguraru, Marius George, Muenke, Maximilian

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Actionable exomic incidental findings in 6503 participants: challenges of variant classification 由 Amendola, Laura M., Dorschner, Michael O., Robertson, Peggy D., Salama, Joseph S., Hart, Ragan, Shirts, Brian H., Murray, Mitzi L., Tokita, Mari J., Gallego, Carlos J., Kim, Daniel Seung, Bennett, James T., Crosslin, David R., Ranchalis, Jane, Jones, Kelly L., Rosenthal, Elisabeth A., Jarvik, Ella R., Itsara, Andy, Turner, Emily H., Herman, Daniel S., Schleit, Jennifer, Burt, Amber, Jamal, Seema M., Abrudan, Jenica L., Johnson, Andrew D., Conlin, Laura K., Dulik, Matthew C., Santani, Avni, Metterville, Danielle R., Kelly, Melissa, Foreman, Ann Katherine M., Lee, Kristy, Taylor, Kent D., Guo, Xiuqing, Crooks, Kristy, Kiedrowski, Lesli A., Raffel, Leslie J., Gordon, Ora, Machini, Kalotina, Desnick, Robert J., Biesecker, Leslie G., Lubitz, Steven A., Mulchandani, Surabhi, Cooper, Greg M., Joffe, Steven, Richards, C. Sue, Yang, Yaoping, Rotter, Jerome I., Rich, Stephen S., O’Donnell, Christopher J., Berg, Jonathan S., Spinner, Nancy B., Evans, James P., Fullerton, Stephanie M., Leppig, Kathleen A., Bennett, Robin L., Bird, Thomas, Sybert, Virginia P., Grady, William M., Tabor, Holly K., Kim, Jerry H., Bamshad, Michael J., Wilfond, Benjamin, Motulsky, Arno G., Scott, C. Ronald, Pritchard, Colin C., Walsh, Tom D., Burke, Wylie, Raskind, Wendy H., Byers, Peter, Hisama, Fuki M., Rehm, Heidi, Nickerson, Debbie A., Jarvik, Gail P.

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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects 由 Platzer, Konrad, Yuan, Hongjie, Schütz, Hannah, Winschel, Alexander, Chen, Wenjuan, Hu, Chun, Kusumoto, Hirofumi, Heyne, Henrike O, Helbig, Katherine L, Tang, Sha, Willing, Marcia C, Tinkle, Brad T, Adams, Darius J, Depienne, Christel, Keren, Boris, Mignot, Cyril, Frengen, Eirik, Strømme, Petter, Biskup, Saskia, Döcker, Dennis, Strom, Tim M, Mefford, Heather C, Myers, Candace T, Muir, Alison M, LaCroix, Amy, Sadleir, Lynette, Scheffer, Ingrid E, Brilstra, Eva, van Haelst, Mieke M, van der Smagt, Jasper J, Bok, Levinus A, Møller, Rikke S, Jensen, Uffe B, Millichap, John J, Berg, Anne T, Goldberg, Ethan M, De Bie, Isabelle, Fox, Stephanie, Major, Philippe, Jones, Julie R, Zackai, Elaine H, Jamra, Rami Abou, Rolfs, Arndt, Leventer, Richard J, Lawson, John A, Roscioli, Tony, Jansen, Floor E, Ranza, Emmanuelle, Korff, Christian M, Lehesjoki, Anna-Elina, Courage, Carolina, Linnankivi, Tarja, Smith, Douglas R, Stanley, Christine, Mintz, Mark, McKnight, Dianalee, Decker, Amy, Tan, Wen-Hann, Tarnopolsky, Mark A, Brady, Lauren I, Wolff, Markus, Dondit, Lutz, Pedro, Helio F, Parisotto, Sarah E, Jones, Kelly L, Patel, Anup D, Franz, David N, Vanzo, Rena, Marco, Elysa, Ranells, Judith D, Di Donato, Nataliya, Dobyns, William B, Laube, Bodo, Traynelis, Stephen F, Lemke, Johannes R

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Williams-Beuren Syndrome in Diverse Populations 由 Kruszka, Paul, Porras, Antonio R., de Souza, Deise Helena, Moresco, Angélica, Huckstadt, Victoria, Gill, Ashleigh D., Boyle, Alec P., Hu, Tommy, Addissie, Yonit A., Mok, Gary TK, Tekendo-Ngongang, Cedrik, Fieggen, Karen, Prijoles, E.J., Tanpaiboon, Pranoot, Honey, Engela, Ho-Ming, Luk, Lo, Ivan FM, Thong, Meow-Keong, Muthukumarasamy, Premala, Jones, Kelly L., Belhassan, Khadija, Ouldim, Karim, Bouchikhi, Ihssane El, Bouguenouch, Laila, Shukla, Anju, Girisha, Katta M., Sirisena, Nirmala D., Dissanayake, Vajira H.W., Paththinige, C. Sampath, Mishra, Rupesh, Kisling, Monisha S., Ferreira, Carlos R., de Herreros, María Beatriz, Lee, Ni-Chung, Jamuar, Saumya S., Lai, Angeline, Shien, Tan Ee, Lim, Jiin Ying, Wen-Min, Cham Breana, Gupta, Neerja, Lotz-Esquivel, Stephanie, Badilla-Porras, Ramsés, Hussen, Dalia Farouk, El Ruby, Mona O., Ashaat, Engy A., Patil, Siddaramappa J., Dowsett, Leah, Eaton, Alison, Innes, A. Micheil, Shotelersuk, Vorasuk, Badoe, Ëben, Wonkam, Ambroise, Obregon, María Gabriela, Chung, Brian H.Y., Trubnykova, Milana, La Serna, Jorge, Jugo, Bertha Elena Gallardo, Pastor, Miguel Chávez, Barriga, Hugo Hernán Abarca, Megarbane, Andre, Kozel, Beth A., van Haelst, Mieke M., Stevenson, Roger E., Summar, Marshall, Adebowale, Adeyemo A., Morris, Colleen A., Moretti-Ferreira, Danilo, Linguraru, Marius George, Muenke, Maximilian

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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction 由 den Hoed, Joery, de Boer, Elke, Voisin, Norine, Dingemans, Alexander J.M., Guex, Nicolas, Wiel, Laurens, Nellaker, Christoffer, Amudhavalli, Shivarajan M., Banka, Siddharth, Bena, Frederique S., Ben-Zeev, Bruria, Bonagura, Vincent R., Bruel, Ange-Line, Brunet, Theresa, Brunner, Han G., Chew, Hui B., Chrast, Jacqueline, Cimbalistienė, Loreta, Coon, Hilary, Délot, Emmanuèlle C., Démurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Donnai, Dian, Dyment, David A., Elpeleg, Orly, Faivre, Laurence, Gilissen, Christian, Granger, Leslie, Haber, Benjamin, Hachiya, Yasuo, Abedi, Yasmin Hamzavi, Hanebeck, Jennifer, Hehir-Kwa, Jayne Y., Horist, Brooke, Itai, Toshiyuki, Jackson, Adam, Jewell, Rosalyn, Jones, Kelly L., Joss, Shelagh, Kashii, Hirofumi, Kato, Mitsuhiro, Kattentidt-Mouravieva, Anja A., Kok, Fernando, Kotzaeridou, Urania, Krishnamurthy, Vidya, Kučinskas, Vaidutis, Kuechler, Alma, Lavillaureix, Alinoë, Liu, Pengfei, Manwaring, Linda, Matsumoto, Naomichi, Mazel, Benoît, McWalter, Kirsty, Meiner, Vardiella, Mikati, Mohamad A., Miyatake, Satoko, Mizuguchi, Takeshi, Moey, Lip H., Mohammed, Shehla, Mor-Shaked, Hagar, Mountford, Hayley, Newbury-Ecob, Ruth, Odent, Sylvie, Orec, Laura, Osmond, Matthew, Palculict, Timothy B., Parker, Michael, Petersen, Andrea K., Pfundt, Rolph, Preikšaitienė, Eglė, Radtke, Kelly, Ranza, Emmanuelle, Rosenfeld, Jill A., Santiago-Sim, Teresa, Schwager, Caitlin, Sinnema, Margje, Snijders Blok, Lot, Spillmann, Rebecca C., Stegmann, Alexander P.A., Thiffault, Isabelle, Tran, Linh, Vaknin-Dembinsky, Adi, Vedovato-dos-Santos, Juliana H., Schrier Vergano, Samantha A., Vilain, Eric, Vitobello, Antonio, Wagner, Matias, Waheeb, Androu, Willing, Marcia, Zuccarelli, Britton, Kini, Usha, Newbury, Dianne F., Kleefstra, Tjitske, Reymond, Alexandre, Fisher, Simon E., Vissers, Lisenka E.L.M.

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