未登录 Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations Li, Yun Rose; Glessner, Joseph T.; Coe, Bradley P.; Li, Jian-jun; Mohebnasab, Maede; Chang, Xiao; Connolly, John; Kao, Charlly; Wei, Zhi; Bradfield, Jonathan; Kim, Cecilia; Hou, Cuiping; Khan, Munir; Mentch, Frank; Qiu, Haijun; Bakay, Marina; Cardinale, Christopher; Lemma, Maria; Abrams, Debra; Bridglall-Jhingoor, Andrew; Behr, Meckenzie; Harrison, Shanell; Otieno, George; Thomas, Alexandria; Wang, Fengxiang; Chiavacci, Rosetta; Wu, Lawrence; Hadley, Dexter; Goldmuntz, Elizabeth; Elia, Josephine; Maris, John; Grundmeier, Robert; Devoto, Marcella; Keating, Brendan; March, Michael; Pellagrino, Renata; Grant, Struan F. A.; Sleiman, Patrick M. A.; Li, Mingyao; Eichler, Evan E.; Hakonarson, Hakon 分享 收藏
ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor Li, Dong; March, Michael E.; Gutierrez-Uzquiza, Alvaro; Kao, Charlly; Seiler, Christoph; Pinto, Erin; Matsuoka, Leticia S.; Battig, Mark R.; Bhoj, Elizabeth J.; Wenger, Tara L.; Tian, Lifeng; Robinson, Nora; Wang, Tiancheng; Liu, Yichuan; Weinstein, Brant M.; Swift, Matthew; Jung, Hyun Min; Kaminski, Courtney N.; Chiavacci, Rosetta; Perkins, Jonathan A.; Levine, Michael A.; Sleiman, Patrick M. A.; Hicks, Patricia J.; Strausbaugh, Janet T.; Belasco, Jean B.; Dori, Yoav; Hakonarson, Hakon 分享 收藏
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly Li, Dong; Wenger, Tara L.; Seiler, Christoph; March, Michael E.; Gutierrez-Uzquiza, Alvaro; Kao, Charlly; Bhoj, Elizabeth; Tian, Lifeng; Rosenbach, Misha; Liu, Yichuan; Robinson, Nora; Behr, Mechenzie; Chiavacci, Rosetta; Hou, Cuiping; Wang, Tiancheng; Bakay, Marina; da Silva, Renata Pellegrino; Perkins, Jonathan A.; Sleiman, Patrick; Levine, Michael A.; Hicks, Patricia J.; Itkin, Maxim; Dori, Yoav; Hakonarson, Hakon 分享 收藏
Fasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signaling Elia, Josephine; Ungal, Grace; Kao, Charlly; Ambrosini, Alexander; De Jesus-Rosario, Nilsa; Larsen, Lene; Chiavacci, Rosetta; Wang, Tiancheng; Kurian, Christine; Titchen, Kanani; Sykes, Brian; Hwang, Sharon; Kumar, Bhumi; Potts, Jacqueline; Davis, Joshua; Malatack, Jeffrey; Slattery, Emma; Moorthy, Ganesh; Zuppa, Athena; Weller, Andrew; Byrne, Enda; Li, Yun R.; Kraft, Walter K.; Hakonarson, Hakon 分享 收藏
A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling (vol 7, 3847, 2017) Li, Dong; Chang, Xiao; Connolly, John J.; Tian, Lifeng; Liu, Yichuan; Bhoj, Elizabeth J.; Robinson, Nora; Abrams, Debra; Li, Yun R.; Bradfield, Jonathan P.; Kim, Cecilia E.; Li, Jin; Wang, Fengxiang; Snyder, James; Lemma, Maria; Hou, Cuiping; Wei, Zhi; Guo, Yiran; Qiu, Haijun; Mentch, Frank D.; Thomas, Kelly A.; Chiavacci, Rosetta M.; Cone, Roger; Li, Bingshan; Sleiman, Patrick A.; Hakonarson, Hakon 分享 收藏
A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling 神经性厌食症的全基因组关联研究表明，与瘦素信号失调有关的风险位点 Li, Dong; Chang, Xiao; Connolly, John J.; Tian, Lifeng; Liu, Yichuan; Bhoj, Elizabeth J.; Robinson, Nora; Abrams, Debra; Li, Yun R.; Bradfield, Jonathan P.; Kim, Cecilia E.; Li, Jin; Wang, Fengxiang; Snyder, James; Lemma, Maria; Hou, Cuiping; Wei, Zhi; Guo, Yiran; Qiu, Haijun; Mentch, Frank D.; Thomas, Kelly A.; Chiavacci, Rosetta M.; Cone, Roger; Li, Bingshan; Sleiman, Patrick A.; Hakonarson, Hakon 分享 收藏
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers Li, Dong; Yuan, Hongjie; Ortiz-Gonzalez, Xilma R.; Marsh, Eric D.; Tian, Lifeng; McCormick, Elizabeth M.; Kosobucki, Gabrielle J.; Chen, Wenjuan; Schulien, Anthony J.; Chiavacci, Rosetta; Tankovic, Anel; Naase, Claudia; Brueckner, Frieder; von Stuelpnagel-Steinbeis, Celina; Hu, Chun; Kusumoto, Hirofumi; Hedrich, Ulrike B. S.; Elsen, Gina; Hoertnagel, Konstanze; Aizenman, Elias; Lemke, Johannes R.; Hakonarson, Hakon; Traynelis, Stephen F.; Falk, Marni J. 分享 收藏
Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records Van Driest, Sara L.; Wells, Quinn S.; Stallings, Sarah; Bush, William S.; Gordon, Adam; Nickerson, Deborah A.; Kim, Jerry H.; Crosslin, David R.; Jarvik, Gail P.; Carrell, David S.; Ralston, James D.; Larson, Eric B.; Bielinski, Suzette J.; Olson, Janet E.; Ye, Zi; Kullo, Iftikhar J.; Abul-Husn, Noura S.; Scott, Stuart A.; Bottinger, Erwin; Almoguera, Berta; Connolly, John; Chiavacci, Rosetta; Hakonarson, Hakon; Rasmussen-Torvik, Laura J.; Pan, Vivian; Persell, Stephen D.; Smith, Maureen; Chisholm, Rex L.; Kitchner, Terrie E.; He, Max M.; Brilliant, Murray H.; Wallace, John R.; Doheny, Kimberly F.; Shoemaker, Benjamin; Li, Rongling; Manolio, Teri A.; Callis, Thomas E.; Macaya, Daniela; Williams, Marc S.; Carey, David; Kapplinger, Jamie D.; Ackerman, Michael J.; Ritchie, Marylyn D.; Denny, Joshua C.; Roden, Dan M. 分享 收藏
Genetic sharing and heritability of paediatric age of onset autoimmune diseases Li, Yun R.; Zhao, Sihai D.; Li, Jin; Bradfield, Jonathan P.; Mohebnasab, Maede; Steel, Laura; Kobie, Julie; Abrams, Debra J.; Mentch, Frank D.; Glessner, Joseph T.; Guo, Yiran; Wei, Zhi; Connolly, John J.; Cardinale, Christopher J.; Bakay, Marina; Li, Dong; Maggadottir, S. Melkorka; Thomas, Kelly A.; Qui, Haijun; Chiavacci, Rosetta M.; Kim, Cecilia E.; Wang, Fengxiang; Snyder, James; Flato, Berit; Forre, Oystein; Denson, Lee A.; Thompson, Susan D.; Becker, Mara L.; Guthery, Stephen L.; Latiano, Anna; Perez, Elena; Resnick, Elena; Strisciuglio, Caterina; Staiano, Annamaria; Miele, Erasmo; Silverberg, Mark S.; Lie, Benedicte A.; Punaro, Marilynn; Russell, Richard K.; Wilson, David C.; Dubinsky, Marla C.; Monos, Dimitri S.; Annese, Vito; Munro, Jane E.; Wise, Carol; Chapel, Helen; Cunningham-Rundles, Charlotte; Orange, Jordan S.; Behrens, Edward M.; Sullivan, Kathleen E.; Kugathasan, Subra; Griffiths, Anne M.; Satsangi, Jack; Grant, Struan F. A.; Sleiman, Patrick M. A.; Finkel, Terri H.; Polychronakos, Constantin; Baldassano, Robert N.; Prak, Eline T. Luning; Ellis, Justine A.; Li, Hongzhe; Keating, Brendan J.; Hakonarson, Hakon 分享 收藏
Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases Li, Yun R.; Li, Jin; Zhao, Sihai D.; Bradfield, Jonathan P.; Mentch, Frank D.; Maggadottir, S. Melkorka; Hou, Cuiping; Abrams, Debra J.; Chang, Diana; Gao, Feng; Guo, Yiran; Wei, Zhi; Connolly, John J.; Cardinale, Christopher J.; Bakay, Marina; Glessner, Joseph T.; Li, Dong; Kao, Charlly; Thomas, Kelly A.; Qiu, Haijun; Chiavacci, Rosetta M.; Kim, Cecilia E.; Wang, Fengxiang; Snyder, James; Richie, Marylyn D.; Flato, Berit; Forre, Oystein; Denson, Lee A.; Thompson, Susan D.; Becker, Mara L.; Guthery, Stephen L.; Latiano, Anna; Perez, Elena; Resnick, Elena; Russell, Richard K.; Wilson, David C.; Silverberg, Mark S.; Annese, Vito; Lie, Benedicte A.; Punaro, Marilynn; Dubinsky, Marla C.; Monos, Dimitri S.; Strisciuglio, Caterina; Staiano, Annamaria; Miele, Erasmo; Kugathasan, Subra; Ellis, Justine A.; Munro, Jane E.; Sullivan, Kathleen E.; Wise, Carol A.; Chapel, Helen; Cunningham-Rundles, Charlotte; Grant, Struan F. A.; Orange, Jordan S.; Sleiman, Patrick M. A.; Behrens, Edward M.; Griffiths, Anne M.; Satsangi, Jack; Finkel, Terri H.; Keinan, Alon; Prak, Eline T. Luning; Polychronakos, Constantin; Baldassano, Robert N.; Li, Hongzhe; Keating, Brendan J.; Hakonarson, Hakon 分享 收藏
Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions Barthold, Julia Spencer; Wang, Yanping; Kolon, Thomas F.; Kollin, Claude; Nordenskjold, Agneta; Fisher, Alicia Olivant; Figueroa, T. Ernesto; BaniHani, Ahmad H.; Hagerty, Jennifer A.; Gonzalez, Ricardo; Noh, Paul H.; Chiavacci, Rosetta M.; Harden, Kisha R.; Abrams, Debra J.; Kim, Cecilia E.; Li, Jin; Hakonarson, Hakon; Devoto, Marcella 分享 收藏
Phenotype Specific Association of the TGFBR3 Locus with Nonsyndromic Cryptorchidism TGFBR3基因座与非综合征性隐睾的表型特异性关联 Barthold, Julia S.; Wang, Yanping; Kolon, Thomas F.; Kollin, Claude; Nordenskjoeld, Agneta; Fisher, Alicia Olivant; Figueroa, T. Ernesto; BaniHani, Ahmad H.; Hagerty, Jennifer A.; Gonzalez, Ricardo; Noh, Paul H.; Chiavacci, Rosetta M.; Harden, Kisha R.; Abrams, Debra J.; Kim, Cecilia E.; Mateson, Abigail B.; Robbins, Alan K.; Li, Jin; Akins, Robert E., Jr.; Hakonarson, Hakon; Devoto, Marcella 分享 收藏
The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative Calkins, Monica E.; Merikangas, Kathleen R.; Moore, Tyler M.; Burstein, Marcy; Behr, Meckenzie A.; Satterthwaite, Theodore D.; Ruparel, Kosha; Wolf, Daniel H.; Roalf, David R.; Mentch, Frank D.; Qiu, Haijun; Chiavacci, Rosetta; Connolly, John J.; Sleiman, Patrick M. A.; Gur, Ruben C.; Hakonarson, Hakon; Gur, Raquel E. 分享 收藏
Body Mass Index (BMI) Trajectories in Infancy Differ by Population Ancestry and May Presage Disparities in Early Childhood Obesity Roy, Sani M.; Chesi, Alessandra; Mentch, Frank; Xiao, Rui; Chiavacci, Rosetta; Mitchell, Jonathan A.; Kelly, Andrea; Hakonarson, Hakon; Grant, Struan F. A.; Zemel, Babette S.; McCormack, Shana E. 分享 收藏
Comorbidity of Physical and Mental Disorders in the Neurodevelopmental Genomics Cohort Study Merikangas, Kathleen R.; Calkins, Monica E.; Burstein, Marcy; He, Jian-Ping; Chiavacci, Rosetta; Lateef, Tarannum; Ruparel, Kosha; Gur, Ruben C.; Lehner, Thomas; Hakonarson, Hakon; Gur, Raquel E. 分享 收藏
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome Kruszka, Paul; Li, Dong; Harr, Margaret H.; Wilson, Nathan R.; Swarr, Daniel; McCormick, Elizabeth M.; Chiavacci, Rosetta M.; Li, Mindy; Martinez, Ariel F.; Hart, Rachel A.; McDonald-McGinn, Donna M.; Deardorff, Matthew A.; Falk, Marni J.; Allanson, Judith E.; Hudson, Cindy; Johnson, John P.; Saadi, Irfan; Hakonarson, Hakon; Muenke, Maximilian; Zackai, Elaine H. 分享 收藏
The psychosis spectrum in a young US community sample: findings from the Philadelphia Neurodevelopmental Cohort 美国年轻社区样本中的精神病谱: 费城神经发育队列的发现 Calkins, Monica E.; Moore, Tyler M.; Merikangas, Kathleen R.; Burstein, Marcy; Satterthwaite, Theodore D.; Bilker, Warren B.; Ruparel, Kosha; Chiavacci, Rosetta; Wolf, Daniel H.; Mentch, Frank; Qiu, Haijun; Connolly, John J.; Sleiman, Patrick A.; Hakonarson, Hakon; Gur, Ruben C.; Gur, Raquel E. 分享 收藏
Targeted resequencing identifies defective variants of decoy receptor 3 in pediatric-onset inflammatory bowel disease Cardinale, C. J.; Wei, Z.; Panossian, S.; Wang, F.; Kim, C. E.; Mentch, F. D.; Chiavacci, R. M.; Kachelries, K. E.; Pandey, R.; Grant, S. F. A.; Baldassano, R. N.; Hakonarson, H. 分享 收藏
The Missense Variation Landscape of FTO, MC4R, and TMEM18 in Obese Children of African Ancestry Deliard, Sandra; Panossian, Saarene; Mentch, Frank D.; Kim, Cecilia E.; Hou, Cuiping; Frackelton, Edward C.; Bradfield, Jonathan P.; Glessner, Joseph T.; Zhang, Haitao; Wang, Kai; Sleiman, Patrick M. A.; Chiavacci, Rosetta M.; Berkowitz, Robert I.; Hakonarson, Hakon; Zhao, Jianhua; Grant, Struan F. A. 分享 收藏
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children 血细胞性状的GWAS确定了高加索人和非裔美国人儿童中新的相关基因座和上位相互作用 Li, Jin; Glessner, Joseph T.; Zhang, Haitao; Hou, Cuiping; Wei, Zhi; Bradfield, Jonathan P.; Mentch, Frank D.; Guo, Yiran; Kim, Cecilia; Xia, Qianghua; Chiavacci, Rosetta M.; Thomas, Kelly A.; Qiu, Haijun; Grant, Struan F. A.; Furth, Susan L.; Hakonarson, Hakon; Sleiman, Patrick M. A. 分享 收藏
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