未登录 A mini-review on the international gyrate atrophy symposium 2023: More than meets the eye. Focus on outstanding research questions 2023国际回旋萎缩研讨会的迷你回顾: 不止是满足眼睛。专注于突出的研究问题 Brands, Marion; Balfoort, Berith; Acharya, Karabi; Bergen, Arthur; Brunetti-Pierri, Nicola; Buijs, Mark; Cellini, Barbara; Schultink, Patrick; Singh, Mandeep; Schulze, Andreas; Timmer, Corrie; Valle, David; Wanders, Ronald; Wartiovaara, Kirmo; van Karnebeek, Clara 分享 收藏
Anxiety and dysautonomia symptoms in patients with a NaV1.7 mutation and the potential benefits of low-dose short-acting guanfacine Collaco, Rita de Cassia; Lammens, Maxime; Blevins, Carley; Rodgers, Kristen; Gurau, Andrei; Yamauchi, Suguru; Kim, Christine; Forrester, Jeannine; Liu, Edward; Ha, Jinny; Mei, Yuping; Boehm, Corrine; Wohler, Elizabeth; Sobreira, Nara; Rowe, Peter C.; Valle, David; Brock, Malcolm V.; Bosmans, Frank 分享 收藏
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Centers for Mendelian Genomics: A decade of facilitating gene discovery Baxter, Samantha M.; Posey, Jennifer E.; Lake, Nicole J.; Sobreira, Nara; Chong, Jessica X.; Buyske, Steven; Blue, Elizabeth E.; Chadwick, Lisa H.; Coban-Akdemir, Zeynep H.; Doheny, Kimberly F.; Davis, Colleen P.; Lek, Monkol; Wellington, Christopher; Jhangiani, Shalini N.; Gerstein, Mark; Gibbs, Richard A.; Lifton, Richard P.; MacArthur, Daniel G.; Matise, Tara C.; Lupski, James R.; Valle, David; Bamshad, Michael J.; Hamosh, Ada; Mane, Shrikant; Nickerson, Deborah A.; Rehm, Heidi L.; O'Donnell-Luria, Anne 分享 收藏
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Variant-level matching for diagnosis and discovery: Challenges and opportunities 用于诊断和发现的变体级别匹配: 挑战和机遇 Rodrigues, Eliete da S.; Griffith, Sean; Martin, Renan; Antonescu, Corina; Posey, Jennifer E.; Coban-Akdemir, Zeynep; Jhangiani, Shalini N.; Doheny, Kimberly F.; Lupski, James R.; Valle, David; Bamshad, Michael J.; Hamosh, Ada; Sheffer, Assaf; Chong, Jessica X.; Einhorn, Yaron; Cupak, Miro; Sobreira, Nara 分享 收藏
Response to Hamosh et al. Hamosh, Ada; Amberger, Joanna S.; Bocchini, Carol A.; Bodurtha, Joann; Bult, Carol J.; Chute, Christopher G.; Cutting, Garry R.; Dietz, Harry C.; Firth, Helen V.; Gibbs, Richard A.; Grody, Wayne W.; Haendel, Melissa A.; Lupski, James R.; Posey, Jennifer E.; Robinson, Peter N.; Schriml, Lynn M.; Scott, Alan F.; Sobreira, Nara L.; Valle, David; Wu, Nan; Rasmussen, Sonja A. 分享 收藏
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data Wohler, Elizabeth; Martin, Renan; Griffith, Sean; Rodrigues, Eliete da S.; Antonescu, Corina; Posey, Jennifer E.; Coban-Akdemir, Zeynep; Jhangiani, Shalini N.; Doheny, Kimberly F.; Lupski, James R.; Valle, David; Hamosh, Ada; Sobreira, Nara 分享 收藏
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease Cananzi, Mara; Wohler, Elizabeth; Marzollo, Antonio; Colavito, Davide; You, Jing; Jing, Huie; Bresolin, Silvia; Gaio, Paola; Martin, Renan; Mescoli, Claudia; Bade, Sangeeta; Posey, Jennifer E.; Carbonare, Maurizio Dalle; Tung, Wesley; Jhangiani, Shalini N.; Bosa, Luca; Zhang, Yu; Sobreira Filho, Joselito; Gabelli, Maria; Kellermayer, Richard; Kader, Howard A.; Oliva-Hemker, Maria; Perilongo, Giorgio; Lupski, James R.; Biffi, Alessandra; Valle, David; Leon, Alberta; de Macena Sobreira, Nara Lygia; Su, Helen C.; Guerrerio, Anthony L. 分享 收藏
The Deep Genome Project Lloyd, K. C. Kent; Adams, David J.; Baynam, Gareth; Beaudet, Arthur L.; Bosch, Fatima; Boycott, Kym M.; Braun, Robert E.; Caulfield, Mark; Cohn, Ronald; Dickinson, Mary E.; Dobbie, Michael S.; Flenniken, Ann M.; Flicek, Paul; Galande, Sanjeev; Gao, Xiang; Grobler, Anne; Heaney, Jason D.; Herault, Yann; De Angelis, Martin Hrabe; Lupski, James R.; Lyonnet, Stanislas; Mallon, Ann-Marie; Mammano, Fabio; MacRae, Calum A.; McInnes, Roderick; McKerlie, Colin; Meehan, Terrence F.; Murray, Stephen A.; Nutter, Lauryl M. J.; Obata, Yuichi; Parkinson, Helen; Pepper, Michael S.; Sedlacek, Radislav; Seong, Je Kyung; Shiroishi, Toshihiko; Smedley, Damian; Tocchini-Valentini, Glauco; Valle, David; Wang, Chi-Kuang Leo; Wells, Sara; White, Jacqueline; Wurst, Wolfgang; Xu, Ying; Brown, Steve D. M. 分享 收藏
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TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model Liu, Jiaqi; Wu, Nan; Yang, Nan; Takeda, Kazuki; Chen, Weisheng; Li, Weiyu; Du, Renqian; Sen Liu; Zhou, Yangzhong; Zhang, Ling; Liu, Zhenlei; Zuo, Yuzhi; Zhao, Sen; Blank, Robert; Pehlivan, Davut; Dong, Shuangshuang; Zhang, Jianguo; Shen, Jianxiong; Si, Nuo; Wang, Yipeng; Liu, Gang; Li, Shugang; Zhao, Yanxue; Zhao, Hong; Chen, Yixin; Zhao, Yu; Song, Xiaofei; Hu, Jianhua; Lin, Mao; Tian, Ye; Yuan, Bo; Yu, Keyi; Niu, Yuchen; Yu, Bin; Li, Xiaoxin; Chen, Jia; Yan, Zihui; Zhu, Qiankun; Meng, Xiaolu; Chen, Xiaoli; Su, Jianzhong; Zhao, Xiuli; Wang, Xiaoyue; Ming, Yue; Li, Xiao; Raggio, Cathleen L.; Zhang, Baozhong; Weng, Xisheng; Zhang, Shuyang; Zhang, Xue; Watanabe, Kota; Matsumoto, Morio; Jin, Li; Shen, Yiping; Sobreira, Nara L.; Posey, Jennifer E.; Giampietro, Philip F.; Valle, David; Liu, Pengfei; Wu, Zhihong; Ikegawa, Shiro; Lupski, James R.; Zhang, Feng; Qiu, Guixing; Kawakami, Noriaki; Kotani, Toshiaki; Sudo, Hideki; Yonezawa, Ikuho; Uno, Koki; Taneichi, Hiroshi; Watanabe, Kei; Minami, Shohei; Shigematsu, Hideki; Sugawara, Ryo; Taniguchi, Yuki; Ootomo, Nao 分享 收藏
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS Rafehi, Haloom; Szmulewicz, David J.; Bennett, Mark F.; Sobreira, Nara L. M.; Pope, Kate; Smith, Katherine R.; Gillies, Greta; Diakumis, Peter; Dolzhenko, Egor; Eberle, Michael A.; Garcia Barcina, Maria; Breen, David P.; Chancellor, Andrew M.; Cremer, Phillip D.; Delatycki, Martin B.; Fogel, Brent L.; Hackett, Anna; Halmagyi, G. Michael; Kapetanovic, Solange; Lang, Anthony; Mossman, Stuart; Mu, Weiyi; Patrikios, Peter; Perlman, Susan L.; Rosemergy, Ian; Storey, Elsdon; Watson, Shaun R. D.; Wilson, Michael A.; Zee, David S.; Valle, David; Amor, David J.; Bahlo, Melanie; Lockhart, Paul J. 分享 收藏
Insights into genetics, human biology and disease gleaned from family based genomic studies Posey, Jennifer E.; O'Donnell-Luria, Anne H.; Chong, Jessica X.; Harel, Tamar; Jhangiani, Shalini N.; Akdemir, Zeynep H. Coban; Buyske, Steven; Pehlivan, Davut; Carvalho, Claudia M. B.; Baxter, Samantha; Sobreira, Nara; Liu, Pengfei; Wu, Nan; Rosenfeld, Jill A.; Kumar, Sushant; Avramopoulos, Dimitri; White, Janson J.; Doheny, Kimberly F.; Witmer, P. Dane; Boehm, Corinne; Sutton, V. Reid; Muzny, Donna M.; Boerwinkle, Eric; Gunel, Murat; Nickerson, Deborah A.; Mane, Shrikant; MacArthur, Daniel G.; Gibbs, Richard A.; Hamosh, Ada; Lifton, Richard P.; Matise, Tara C.; Rehm, Heidi L.; Gerstein, Mark; Bamshad, Michael J.; Valle, David; Lupski, James R. 分享 收藏
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Clinical vs novel single nucleotide variants by WES in fetuses with pleural effusions Jelin, Angie C.; Sobreira, Nara; Wohler, Elizabeth; Solomon, Benjamin; Sparks, Teresa; Sagaser, Katelynn G.; Forster, Katie Rock; Witmer, Dane; Hamosh, Ada; Valle, David; Blakemore, Karin J. 分享 收藏
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Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel Umanah, George K. E.; Pignatelli, Marco; Yin, Xiling; Chen, Rong; Crawford, Joshua; Neifert, Stewart; Scarffe, Leslie; Behensky, Adam A.; Guiberson, Noah; Chang, Melissa; Ma, Erica; Kim, Jin Wan; Castro, Cibele C.; Mao, Xiaobo; Chen, Li; Andrabi, Shaida A.; Pletnikov, Mikhail V.; Pulver, Ann E.; Avramopoulos, Dimitrios; Bonci, Antonello; Valle, David; Dawson, Ted M.; Dawson, Valina L. 分享 收藏
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