未登录A Scalable CMOS Molecular Electronics Chip for Single-Molecule Biosensing用于单分子生物传感的可扩展CMOS分子电子芯片
Hall, Drew A.; Ananthapadmanabhan, Nagaraj; Choi, Chulmin; Zheng, Le; Pan, Paul P. P.; Von Jutrzenka, Christoph; Nguyen, Thuan; Rizo, Jose; Weinstein, Macklan; Lobaton, Raymond; Sinha, Prem; Sauerbrey, Trevor; Sigala, Cruz; Bailey, Kathryne; Mudondo, Paul J.; Chaudhuri, Ashesh Ray; Severi, Simone; Fuller, Carl W.; Tour, James M.; Jin, Sungho; Mola, Paul W.; Merriman, Barry .png)
分享.png)
收藏INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complexMascibroda, Lauren G.; Shboul, Mohammad; Elrod, Nathan D.; Colleaux, Laurence; Hamamy, Hanan; Huang, Kai-Lieh; Peart, Natoya; Singh, Moirangthem Kiran; Lee, Hane; Merriman, Barry; Jodoin, Jeanne N.; Sitaram, Poojitha; Lee, Laura A.; Fathalla, Raja; Al-Rawashdeh, Baeth; Ababneh, Osama; El-Khateeb, Mohammad; Escande-Beillard, Nathalie; Nelson, Stanley F.; Wu, Yixuan; Tong, Liang; Kenney, Linda J.; Roy, Sudipto; Russell, William K.; Amiel, Jeanne; Reversade, Bruno; Wagner, Eric J. 分享 收藏 Molecular electronics sensors on a scalable semiconductor chip: A platform for single-molecule measurement of binding kinetics and enzyme activity可扩展半导体芯片上的分子电子传感器: 用于结合动力学和酶活性的单分子测量的平台Fuller, Carl W.; Padayatti, Pius S.; Abderrahim, Hadi; Adamiak, Lisa; Alagar, Nolan; Ananthapadmanabhan, Nagaraj; Baek, Jihye; Chinni, Sarat; Choi, Chulmin; Delaney, Kevin J.; Dubielzig, Rich; Frkanec, Julie; Garcia, Chris; Gardner, Calvin; Gebhardt, Daniel; Geiser, Tim; Gutierrez, Zachariah; Hall, Drew A.; Hodges, Andrew P.; Hou, Guangyuan; Jain, Sonal; Jones, Teresa; Lobaton, Raymond; Majzik, Zsolt; Marte, Allen; Mohan, Prateek; Mola, Paul, II; Mudondo, Paul; Mullinix, James; Thuan Nguyen; Ollinger, Frederick; Orr, Sarah; Ouyang, Yuxuan; Pan, Paul; Park, Namseok; Porras, David; Prabhu, Keshav; Reese, Cassandra; Ruel, Travers; Sauerbrey, Trevor; Sawyer, Jaymie R.; Sinha, Prem; Tu, Jacky; Venkatesh, A. G.; VijayKumar, Sushmitha; Zheng, Le; Jin, Sungho; Tour, James M.; Church, George M.; Mola, Paul W.; Merriman, Barry 分享 收藏 Mutations in PYCR1 cause cutis laxa with progeroid features (vol 41, pg 1016, 2009)Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Bjorn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hulya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Kegler, Mareen Schmidt-von; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Hausser, Ingrid; Budde, Birgit; Nurnberg, Gudrun; Nurnberg, Peter; Seemann, Petra; Kunkel, Desiree; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe 分享 收藏 Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival LesionsMamai, Ons; Boussofara, Lobna; Denguezli, Mohamed; Escande-Beillard, Nathalie; Kraeim, Wahiba; Merriman, Barry; Ben Charfeddine, Ilhem; Stevanin, Giovanni; Bouraoui, Sana; Amara, Abdelbasset; Mili, Amira; Nouira, Rafiaa; H'mida, Dorra; Sriha, Badreddine; Gribaa, Moez; Saad, Ali; Reversade, Bruno 分享 收藏 An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeBrownstein, Catherine A.; Beggs, Alan H.; Homer, Nils; Merriman, Barry; Yu, Timothy W.; Flannery, Katherine C.; DeChene, Elizabeth T.; Towne, Meghan C.; Savage, Sarah K.; Price, Emily N.; Holm, Ingrid A.; Luquette, Lovelace J.; Lyon, Elaine; Majzoub, Joseph; Neupert, Peter; McCallie, David, Jr.; Szolovits, Peter; Willard, Huntington F.; Mendelsohn, Nancy J.; Temme, Renee; Finkel, Richard S.; Yum, Sabrina W.; Medne, Livija; Sunyaev, Shamil R.; Adzhubey, Ivan; Cassa, Christopher A.; de Bakker, Paul I. W.; Duzkale, Hatice; Dworzynski, Piotr; Fairbrother, William; Francioli, Laurent; Funke, Birgit H.; Giovanni, Monica A.; Handsaker, Robert E.; Lage, Kasper; Lebo, Matthew S.; Lek, Monkol; Leshchiner, Ignaty; MacArthur, Daniel G.; McLaughlin, Heather M.; Murray, Michael F.; Pers, Tune H.; Polak, Paz P.; Raychaudhuri, Soumya; Rehm, Heidi L.; Soemedi, Rachel; Stitziel, Nathan O.; Vestecka, Sara; Supper, Jochen; Gugenmus, Claudia; Klocke, Bernward; Hahn, Alexander; Schubach, Max; Menzel, Mortiz; Biskup, Saskia; Freisinger, Peter; Deng, Mario; Braun, Martin; Perner, Sven; Smith, Richard J. H.; Andorf, Janeen L.; Huang, Jian; Ryckman, Kelli; Sheffield, Val C.; Stone, Edwin M.; Bair, Thomas; Black-Ziegelbein, E. Ann; Braun, Terry A.; Darbro, Benjamin; DeLuca, Adam P.; Kolbe, Diana L.; Scheetz, Todd E.; Shearer, Aiden E.; Sompallae, Rama; Wang, Kai; Bassuk, Alexander G.; Edens, Erik; Mathews, Katherine; Moore, Steven A.; Shchelochkov, Oleg A.; Trapane, Pamela; Bossler, Aaron; Campbell, Colleen A.; Heusel, Jonathan W.; Kwitek, Anne; Maga, Tara; Panzer, Karin; Wassink, Thomas; Van Daele, Douglas; Azaiez, Hela; Booth, Kevin; Meyer, Nic; Segal, Michael M.; Williams, Marc S.; Tromp, Gerard; White, Peter; Corsmeier, Donald; Fitzgerald-Butt, Sara; Herman, Gail; Lamb-Thrush, Devon; McBride, Kim L.; Newsom, David; Pierson, Christopher R.; Rakowsky, Alexander T.; Maver, Ales; Lovrecic, Luca; Palandacic, Anja; Peterlin, Borut; Torkamani, Ali; Wedell, Anna; Huss, Mikael; Alexeyenko, Andrey; Lindvall, Jessica M.; Magnusson, Mans; Nilsson, Daniel; Stranneheim, Henrik; Taylan, Fulya; Gilissen, Christian; Hoischen, Alexander; van Bon, Bregje; Yntema, Helger; Nelen, Marcel; Zhang, Weidong; Sager, Jason; Zhang, Lu; Blair, Kathryn; Kural, Deniz; Cariaso, Michael; Lennon, Greg G.; Javed, Asif; Agrawal, Saloni; Ng, Pauline C.; Sandhu, Komal S.; Krishna, Shuba; Veeramachaneni, Vamsi; Isakov, Ofer; Halperin, Eran; Friedman, Eitan; Shomron, Noam; Glusman, Gustavo; Roach, Jared C.; Caballero, Juan; Cox, Hannah C.; Mauldin, Denise; Ament, Seth A.; Rowen, Lee; Richards, Daniel R.; San Lucas, F. Anthony; Gonzalez-Garay, Manuel L.; Caskey, C. Thomas; Bai, Yu; Huang, Ying; Fang, Fang; Zhang, Yan; Wang, Zhengyuan; Barrera, Jorge; Garcia-Lobo, Juan M.; Gonzalez-Lamuno, Domingo; Llorca, Javier; Rodriguez, Maria C.; Varela, Ignacio; Reese, Martin G.; De la Vega, Francisco M.; Kiruluta, Edward; Cargill, Michele; Hart, Reece K.; Sorenson, Jon M.; Lyon, Gholson J.; Stevenson, David A.; Bray, Bruce E.; Moore, Barry M.; Eilbeck, Karen; Yandell, Mark; Zhao, Hongyu; Hou, Lin; Chen, Xiaowei; Yan, Xiting; Chen, Mengjie; Li, Cong; Yang, Can; Gunel, Murat; Li, Peining; Kong, Yong; Alexander, Austin C.; Albertyn, Zayed I.; Boycott, Kym M.; Bulman, Dennis E.; Gordon, Paul M. K.; Innes, A. Micheil; Knoppers, Bartha M.; Majewski, Jacek; Marshall, Christian R.; Parboosingh, Jillian S.; Sawyer, Sarah L.; Samuels, Mark E.; Schwartzentruber, Jeremy; Kohane, Isaac S.; Margulies, David M. 分享 收藏 分享 收藏 分享 收藏 Familial cortical myoclonus with a mutation in NOL3Russell, Jonathan F.; Steckley, Jamie L.; Coppola, Giovanni; Hahn, Angelika F. G.; Howard, MacKenzie A.; Kornberg, Zachary; Huang, Alden; Mirsattari, Seyed M.; Merriman, Barry; Klein, Eric; Choi, Murim; Lee, Hsien-Yang; Kirk, Andrew; Nelson-Williams, Carol; Gibson, Gillian; Baraban, Scott C.; Lifton, Richard P.; Geschwind, Daniel H.; Fu, Ying-Hui; Ptacek, Louis J. 分享 收藏 Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1Bonnard, Carine; Strobl, Anna C.; Shboul, Mohammad; Lee, Hane; Merriman, Barry; Nelson, Stanley F.; Ababneh, Osama H.; Uz, Elif; Guran, Tulay; Kayserili, Hulya; Hamamy, Hanan; Reversade, Bruno 分享 收藏 CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumLee, Ji Eun; Silhavy, Jennifer L.; Zaki, Maha S.; Schroth, Jana; Bielas, Stephanie L.; Marsh, Sarah E.; Olvera, Jesus; Brancati, Francesco; Iannicelli, Miriam; Ikegami, Koji; Schlossman, Andrew M.; Merriman, Barry; Attie-Bitach, Tania; Logan, Clare V.; Glass, Ian A.; Cluckey, Andrew; Louie, Carrie M.; Lee, Jeong Ho; Raynes, Hilary R.; Rapin, Isabelle; Castroviejo, Ignacio P.; Setou, Mitsutoshi; Barbot, Clara; Boltshauser, Eugen; Nelson, Stanley F.; Hildebrandt, Friedhelm; Johnson, Colin A.; Doherty, Daniel A.; Valente, Enza Maria; Gleeson, Joseph G. 分享 收藏 Loss of function of the TGFβR1 receptor leads to the spontaneously regressing squamous carcinoma condition, multiple self-healing squamous epithelioma (Ferguson-Smith disease)Goudie, David R.; D'Alessandro, Mariella; Merriman, Barry; Lee, Hane; Szeverenyi, Ildiko; Avery, Stuart; O'Connor, Brian D.; Nelson, Stanley F.; Coats, Stephanie E.; Stewart, Arlene A.; Christie, Lesley; Pichert, Gabriella; Friedel, Jean; Hayes, Ian; Burrows, Nigel; Whittaker, Sean; Gerdes, Anne-Marie; Broesby-Olsen, Sigurd; Ferguson-Smith, Malcolm A.; Verma, Chandra; Lunny, Declan P.; Reversade, Bruno; Lane, E. Birgitte 分享 收藏 Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1Goudie, David R.; D'Alessandro, Mariella; Merriman, Barry; Lee, Hane; Szeverenyi, Ildiko; Avery, Stuart; O'Connor, Brian D.; Nelson, Stanley F.; Coats, Stephanie E.; Stewart, Arlene; Christie, Lesley; Pichert, Gabriella; Friedel, Jean; Hayes, Ian; Burrows, Nigel; Whittaker, Sean; Gerdes, Anne-Marie; Broesby-Olsen, Sigurd; Ferguson-Smith, Malcolm A.; Verma, Chandra; Lunny, Declan P.; Reversade, Bruno; Lane, E. Birgitte 分享 收藏 Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH SignalingTian, Jing; Ling, Ling; Shboul, Mohammad; Lee, Hane; O'Connor, Brian; Merriman, Barry; Nelson, Stanley E.; Cool, Simon; Ababneh, Osama H.; Al-Hadidy, Azmy; Masri, Amira; Hamamy, Hanan; Reversade, Bruno 分享 收藏 分享 收藏 分享 收藏 Lethal Skeletal Dysplasia in Mice and Humans Lacking the Golgin GMAP-210Smits, Patrick; Bolton, Andrew D.; Funari, Vincent; Hong, Minh; Boyden, Eric D.; Lu, Lei; Manning, Danielle K.; Dwyer, Noelle D.; Moran, Jennifer L.; Prysak, Mary; Merriman, Barry; Nelson, Stanley F.; Bonafe, Luisa; Superti-Furga, Andrea; Ikegawa, Shiro; Krakow, Deborah; Cohn, Daniel H.; Kirchhausen, Tom; Warman, Matthew L.; Beier, David R. 分享 收藏 分享 收藏 Complete Cytoreduction Offers Longterm Survival in Patients with Peritoneal Carcinomatosis from Appendiceal Tumors of Unfavorable HistologyOmohwo, Cyril; Nieroda, Carol A.; Studeman, Kimberley D.; Thieme, Heather; Kostuik, Paula; Ross, Alexander S.; Holter, Darlene R.; Gushchin, Vadim; Merriman, Barry; Sardi, Armando 分享 收藏 Mutations in PYCR1 cause cutis laxa with progeroid featuresReversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Bjoern; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Huelya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Schmidt-von Kegler, Mareen; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Hausser, Ingrid; Budde, Birgit; Nuernberg, Gudrun; Nuernberg, Peter; Seemann, Petra; Kunkel, Desiree; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
