Результаты поиска - Walley, Nicole

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network по Spillmann, Rebecca C., McConkie-Rosell, Allyn, Pena, Loren, Jiang, Yong-Hui, Schoch, Kelly, Walley, Nicole, Sanders, Camilla, Sullivan, Jennifer, Hooper, Stephen R., Shashi, Vandana

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Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey по Cope, Heidi, Barseghyan, Hayk, Bhattacharya, Surajit, Fu, Yulong, Hoppman, Nicole, Marcou, Cherisse, Walley, Nicole, Rehder, Catherine, Deak, Kristen, Alkelai, Anna, Vilain, Eric, Shashi, Vandana, Phillips, John A.

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Genetic Determinants of Variable Metabolism Have Little Impact on the Clinical Use of Leading Antipsychotics in the CATIE study по Grossman, Iris, Sullivan, Patrick F., Walley, Nicole, Liu, Youfang, Dawson, Jeffrey R., Gumbs, Curtis, Gaedigk, Andrea, Leeder, J. Steven, McEvoy, Joseph P., Weale, Michael E., Goldstein, David B.

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A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative по Shashi, Vandana, Schoch, Kelly, Spillmann, Rebecca, Cope, Heidi, Tan, Queenie K.-G., Walley, Nicole, Pena, Loren, McConkie-Rosell, Allyn, Jiang, Yong-Hui, Stong, Nicholas, Need, Anna C., Goldstein, David B.

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Differential gene expression in dentate granule cells in mesial temporal lobe epilepsy with and without hippocampal sclerosis по Griffin, Nicole G., Wang, Yu, Hulette, Christine M., Halvorsen, Matt, Cronin, Kenneth D., Walley, Nicole M., Haglund, Michael M., Radtke, Rodney A., Pate Skene, J. H., Sinha, Saurabh R., Heinzen, Erin L.

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The Genome Empowerment Scale (GEmS): An Assessment of Parental Empowerment in Families with Undiagnosed Disease по McConkie-Rosell, Allyn, Schoch, Kelly, Sullivan, Jennifer, Cope, Heidi, Spillmann, Rebecca, Palmer, Christina G. S., Pena, Loren, Jiang, Yong-Hui, Daniels, Nicole, Walley, Nicole, Tan, Khoon Ghee, Hooper, Stephen R., Shashi, Vandana

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Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly по Griffin, Nicole G., Cronin, Kenneth D., Walley, Nicole M., Hulette, Christine M., Grant, Gerald A., Mikati, Mohamad A., LaBreche, Heather G., Rehder, Catherine W., Allen, Andrew S., Crino, Peter B., Heinzen, Erin L.

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D-DEMØ, a distinct phenotype caused by ATP1A3 mutations по Prange, Lyndsey, Pratt, Milton, Herman, Kristin, Schiffmann, Raphael, Mueller, David M., McLean, Melissa, Mendez, Mary Moya, Walley, Nicole, Heinzen, Erin L., Goldstein, David, Shashi, Vandana, Hunanyan, Arsen, Pagadala, Vijay, Mikati, Mohamad A.

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Host determinants of HIV-1 control in African Americans по Pelak, Kimberly, Goldstein, David B., Walley, Nicole M., Fellay, Jacques, Ge, Dongliang, Shianna, Kevin V., Gumbs, Curtis, Gao, Xiaojiang, Maia, Jessica M., Cronin, Kenneth D., Hussain, Shehnaz K., Carrington, Mary, Michael, Nelson L., Weintrob, Amy C.

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Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions по McCormack, Mark, Urban, Thomas J, Shianna, Kevin V, Walley, Nicole, Pandolfo, Massimo, Depondt, Chantal, Chaila, Elijah, O’Conner, Gerard D, Kasperavičiūtė, Dalia, Radtke, Rodney A, Heinzen, Erin L, Sisodiya, Sanjay M, Delanty, Norman, Cavalleri, Gianpiero L

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Characteristics of undiagnosed diseases network applicants: implications for referring providers по Walley, Nicole M., Pena, Loren D. M., Hooper, Stephen R., Cope, Heidi, Jiang, Yong-Hui, McConkie-Rosell, Allyn, Sanders, Camilla, Schoch, Kelly, Spillmann, Rebecca C., Strong, Kimberly, McCray, Alexa T., Mazur, Paul, Esteves, Cecilia, LeBlanc, Kimberly, Wise, Anastasia L., Shashi, Vandana

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The Duffy Antigen Receptor for Chemokines Null Promoter Variant Does Not Influence HIV-1 Acquisition Or Disease Progression по Walley, Nicole M, Julg, Boris, Dickson, Samuel P., Fellay, Jacques, Ge, Dongliang, Walker, Bruce D, Carrington, Mary, Cohen, Myron S., de Bakker, Paul I.W., Goldstein, David B., Shianna, Kevin V., Haynes, Barton F., Letvin, Norman L., McMichael, Andrew J., Michael, Nelson L., Weintrob, Amy C.

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Genetic enhancement of cognition in a kindred with cone–rod dystrophy due to RIMS1 mutation по Sisodiya, Sanjay M, Thompson, Pamela J, Need, Anna, Harris, Sarah E, Weale, Michael E, Wilkie, Susan E, Michaelides, Michel, Free, Samantha L, Walley, Nicole, Gumbs, Curtis, Gerrelli, Dianne, Ruddle, Piers, Whalley, Lawrence J, Starr, John M, Hunt, David M, Goldstein, David B, Deary, Ian J, Moore, Anthony T

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Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features по Tan, Queenie K.-G., Cope, Heidi, Spillmann, Rebecca C., Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie T., Rothman, Jennifer A., Butler, Megan W., Frush, Donald P., Lachman, Ralph S., Lee, Brendan, Bacino, Carlos A., Bonner, Melanie J., McCall, Chad M., Pendse, Avani A., Walley, Nicole, Shashi, Vandana, Pena, Loren D.M.

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Genomic and clinical predictors of lacosamide response in refractory epilepsies по Heavin, Sinéad B., McCormack, Mark, Wolking, Stefan, Slattery, Lisa, Walley, Nicole, Avbersek, Andreja, Novy, Jan, Sinha, Saurabh R., Radtke, Rod, Doherty, Colin, Auce, Pauls, Craig, John, Johnson, Michael R., Koeleman, Bobby P. C., Krause, Roland, Kunz, Wolfram S., Marson, Anthony G., O'Brien, Terence J., Sander, Josemir W., Sills, Graeme J., Stefansson, Hreinn, Striano, Pasquale, Zara, Federico, Depondt, Chantal, Sisodiya, Sanjay, Goldstein, David, Lerche, Holger, Cavalleri, Gianpiero L., Delanty, Norman

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Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science по Schoch, Kelly, Esteves, Cecilia, Bican, Anna, Spillmann, Rebecca, Cope, Heidi, McConkie-Rosell, Allyn, Walley, Nicole, Fernandez, Liliana, Kohler, Jennefer N, Bonner, Devon, Reuter, Chloe, Stong, Nicholas, Mulvihill, John J., Novacic, Donna, Wolfe, Lynne, Abdelbaki, Ayat, Toro, Camilo, Tifft, Cyndi, Malicdan, May, Gahl, William, Liu, Pengfei, Newman, John, Goldstein, David B., Hom, Jason, Sampson, Jacinda, Wheeler, Matthew T., Cogan, Joy, Bernstein, Jonathan A., Adams, David R., McCray, Alexa T., Shashi, Vandana

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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases по 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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HLA-A★3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans по McCormack, Mark, Alfirevic, Ana, Bourgeois, Stephane, Farrell, John J., Kasperavičiūtė, Dalia, Carrington, Mary, Sills, Graeme J., Marson, Tony, Jia, Xiaoming, de Bakker, Paul I.W., Chinthapalli, Krishna, Molokhia, Mariam, Johnson, Michael R., O’Connor, Gerard D., Chaila, Elijah, Alhusaini, Saud, Shianna, Kevin V., Radtke, Rodney A., Heinzen, Erin L., Walley, Nicole, Pandolfo, Massimo, Pichler, Werner, Park, B. Kevin, Depondt, Chantal, Sisodiya, Sanjay M., Goldstein, David B., Deloukas, Panos, Delanty, Norman, Cavalleri, Gianpiero L., Pirmohamed, Munir

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Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy по Heinzen, Erin L., Depondt, Chantal, Cavalleri, Gianpiero L., Ruzzo, Elizabeth K., Walley, Nicole M., Need, Anna C., Ge, Dongliang, He, Min, Cirulli, Elizabeth T., Zhao, Qian, Cronin, Kenneth D., Gumbs, Curtis E., Campbell, C. Ryan, Hong, Linda K., Maia, Jessica M., Shianna, Kevin V., McCormack, Mark, Radtke, Rodney A., O'Conner, Gerard D., Mikati, Mohamad A., Gallentine, William B., Husain, Aatif M., Sinha, Saurabh R., Chinthapalli, Krishna, Puranam, Ram S., McNamara, James O., Ottman, Ruth, Sisodiya, Sanjay M., Delanty, Norman, Goldstein, David B.

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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay по Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Bearden, David R., Stray-Pedersen, Asbjorg, Busk, Oyvind L., Stong, Nicholas, Liston, Eriskay, Cohn, Ronald D., Scaglia, Fernando, Rosenfeld, Jill A., Tarpinian, Jennifer, Skraban, Cara M., Deardorff, Matthew A., Friedman, Jeremy N., Akdemir, Zeynep Coban, Walley, Nicole, Mikati, Mohamad A., Kranz, Peter G., Jasien, Joan, McConkie-Rosell, Allyn, McDonald, Marie, Wechsler, Stephanie Burns, Freemark, Michael, Kansagra, Sujay, Freedman, Sharon, Bali, Deeksha, Millan, Francisca, Bale, Sherri, Nelson, Stanley F., Lee, Hane, Dorrani, Naghmeh, Goldstein, David B., Xiao, Rui, Yang, Yaping, Posey, Jennifer E., Martinez-Agosto, Julian A., Lupski, James R., Wangler, Michael F., Shashi, Vandana

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