Hakutulokset - Stong, Nicholas

Spasmodic Dysphonia in Hereditary Spastic Paraplegia Type 7 Tekijä Hall, Devin, Stong, Nicholas, Lippa, Natalie, Pitman, Michael J., Pullman, Seth L., Levy, Oren A.

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Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance Tekijä Hayeck, Tristan J., Stong, Nicholas, Wolock, Charles J., Copeland, Brett, Kamalakaran, Sitharthan, Goldstein, David B., Allen, Andrew S.

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Late-onset pattern macular dystrophy mimicking ABCA4 and PRPH2 disease is caused by a homozygous frameshift mutation in ROM1 Tekijä Ma, Chu Jian, Lee, Winston, Stong, Nicholas, Zernant, Jana, Chang, Stanley, Goldstein, David, Nagasaki, Takayuki, Allikmets, Rando

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Integrative multi-omics identifies high risk multiple myeloma subgroup associated with significant DNA loss and dysregulated DNA repair and cell cycle pathways Tekijä Ortiz-Estévez, María, Towfic, Fadi, Flynt, Erin, Stong, Nicholas, Jang, In Sock, Wang, Kai, Trotter, Matthew W. B., Thakurta, Anjan

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A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants Tekijä Wolock, Charles J., Stong, Nicholas, Ma, Chu Jian, Nagasaki, Takayuki, Lee, Winston, Tsang, Stephen H., Kamalakaran, Sitharthan, Goldstein, David B., Allikmets, Rando

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Modification of the PROM1 Disease Phenotype by a Mutation in ABCA4 Tekijä Lee, Winston, Paavo, Maarjaliis, Zernant, Jana, Stong, Nicholas, Laurente, Zachary, Bearelly, Srilaxmi, Nagasaki, Takayuki, Tsang, Stephen H., Goldstein, David B., Allikmets, Rando

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Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses Tekijä Schoch, Kelly, Tan, Queenie K.-G., Stong, Nicholas, Deak, Kristen L., McConkie-Rosell, Allyn, McDonald, Marie T., Goldstein, David B., Jiang, Yong-hui, Shashi, Vandana

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Exome sequencing of an adolescent with nonalcoholic fatty liver disease identifies a clinically actionable case of Wilson disease Tekijä Wattacheril, Julia, Shea, Patrick R., Mohammad, Saeed, Behling, Cynthia, Aggarwal, Vimla, Wilson, Laura A., Yates, Katherine P., Ito, Joy, Fishbein, Mark, Stong, Nicholas, Lavine, Joel E., Goldstein, David B.

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Ancestry adjustment improves genome-wide estimates of regional intolerance Tekijä Hayeck, Tristan J, Stong, Nicholas, Baugh, Evan, Dhindsa, Ryan, Turner, Tychele N, Malakar, Ayan, Mosbruger, Timothy L, Shaw, Grace Tzun-Wen, Duan, Yuncheng, Ionita-Laza, Iuliana, Goldstein, David, Allen, Andrew S

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A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative Tekijä 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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Subtelomeric CTCF and cohesin binding site organization using improved subtelomere assemblies and a novel annotation pipeline Tekijä Stong, Nicholas, Deng, Zhong, Gupta, Ravi, Hu, Sufen, Paul, Shiela, Weiner, Amber K., Eichler, Evan E., Graves, Tina, Fronick, Catrina C., Courtney, Laura, Wilson, Richard K., Lieberman, Paul M., Davuluri, Ramana V., Riethman, Harold

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Heterozygous Variants in MYBPC1 are Associated with an Expanded Neuromuscular Phenotype beyond Arthrogryposis Tekijä Vandana, Shashi, Geist, Janelle, Lee, Youngha, Yoo, Yongjin, Shin, Unbeom, Schoch, Kelly, Sullivan, Jennifer, Stong, Nicholas, Smith, Edward, Jasien, Joan, Kranz, Peter, Lee, Yoonsung, Shin, Yong Beom, Wright, Nathan T., Choi, Murim, Kontrogianni-Konstantopoulos, Aikaterini

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Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features Tekijä Luo, Xi, Schoch, Kelly, Jangam, Sharayu V, Bhavana, Venkata Hemanjani, Graves, Hillary K, Kansagra, Sujay, Jasien, Joan M, Stong, Nicholas, Keren, Boris, Mignot, Cyril, Ravelli, Claudia, Bellen, Hugo J, Wangler, Michael F, Shashi, Vandana, Yamamoto, Shinya

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Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features Tekijä 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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Mapping H4K20me3 onto the chromatin landscape of senescent cells indicates a function in control of cell senescence and tumor suppression through preservation of genetic and epigen... Tekijä Nelson, David M., Jaber-Hijazi, Farah, Cole, John J., Robertson, Neil A., Pawlikowski, Jeffrey S., Norris, Kevin T., Criscione, Steven W., Pchelintsev, Nikolay A., Piscitello, Desiree, Stong, Nicholas, Rai, Taranjit Singh, McBryan, Tony, Otte, Gabriel L., Nixon, Colin, Clark, William, Riethman, Harold, Wu, Hong, Schotta, Gunnar, Garcia, Benjamin A., Neretti, Nicola, Baird, Duncan M., Berger, Shelley L., Adams, Peter D.

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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 Tekijä Chao, Hsiao-Tuan, Davids, Mariska, Burke, Elizabeth, Pappas, John G., Rosenfeld, Jill A., McCarty, Alexandra J., Davis, Taylor, Wolfe, Lynne, Toro, Camilo, Tifft, Cynthia, Xia, Fan, Stong, Nicholas, Johnson, Travis K., Warr, Coral G., Yamamoto, Shinya, Adams, David R., Markello, Thomas C., Gahl, William A., Bellen, Hugo J., Wangler, Michael F., Malicdan, May Christine V.

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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder Tekijä Liu, Ning, Schoch, Kelly, Luo, Xi, Pena, Loren D M, Bhavana, Venkata Hemanjani, Kukolich, Mary K, Stringer, Sarah, Powis, Zöe, Radtke, Kelly, Mroske, Cameron, Deak, Kristen L, McDonald, Marie T, McConkie-Rosell, Allyn, Markert, M Louise, Kranz, Peter G, Stong, Nicholas, Need, Anna C, Bick, David, Amaral, Michelle D, Worthey, Elizabeth A, Levy, Shawn, Wangler, Michael F, Bellen, Hugo J, Shashi, Vandana, Yamamoto, Shinya

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Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science Tekijä 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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De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder Tekijä Dias, Caroline, Pfundt, Rolph, Kleefstra, Tjitske, Shuurs-Hoeijmakers, Janneke, Boon, Elles M J, van Hagen, Johanna M, Zwijnenburg, Petra, Weiss, Marjan M, Keren, Boris, Mignot, Cyril, Isapof, Arnaud, Weiss, Karin, Hershkovitz, Tova, Iascone, Maria, Maitz, Silvia, Feichtinger, René G, Kotzot, Dieter, Mayr, Johannes A, Ben-Omran, Tawfeg, Mahmoud, Laila, Pais, Lynn S, Walsh, Christopher A, Shashi, Vandana, Sullivan, Jennifer A, Stong, Nicholas, Lecoquierre, Francois, Guerrot, Anne-Marie, Charollais, Aude, Rodan, Lance H

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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases Tekijä 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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