日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Transposition of the Great Arteries With Intact Ventricular Septum and Fetal-Onset Dilated Cardiomyopathy in a Neonate With a Homozygous NEXN Variant

新生儿大动脉转位伴室间隔完整和胎儿期起病的扩张型心肌病,该患儿携带纯合NEXN变异

Geer, Daniel; Wakeling, Emma; Goljan, Ewa; Robinson, Hannah; Swain, Justine; Laurence, Craig

Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population

基于大规模下一代测序技术的沙特人群SLCO1B1药物遗传学变异分析

Goljan, Ewa; Abouelhoda, Mohammed; Tahir, Asma; ElKalioby, Mohamed; Meyer, Brian; Monies, Dorota

The clinical utility of rapid exome sequencing in a consanguineous population

快速外显子组测序在近亲结婚人群中的临床应用价值

Monies, Dorota; Goljan, Ewa; Assoum, Mirna; Albreacan, Muna; Binhumaid, Faisal; Subhani, Shazia; Boureggah, Abdulmlik; Hashem, Mais; Abdulwahab, Firdous; Abuyousef, Omar; Temsah, Mohamad H; Alsohime, Fahad; Kelaher, James; Abouelhoda, Mohamed; Meyer, Brian F; Alkuraya, Fowzan S

Paper 66: Radiostereometric Analysis of Biceps Tenodesis: A Prospective Comparison of All-Suture Anchor vs. Interference Screw, Arthroscopic and Mini-Open Techniques

论文66:肱二头肌腱固定术的放射立体分析:全缝线锚钉与干涉螺钉、关节镜和微创开放技术的预期比较

Lu, Yining; Pareek, Ayoosh; Lavoie-Gagne, Ophelie Z; Forlenza, Enrico M; Patel, Bhavik H; Reinholz, Anna K; Forsythe, Brian; Camp, Christopher L; Johnson, Emma; Farronato, Dominic; Pezzulo, Joshua; Brutico, Joseph; Dodson, Christopher; Freedman, Kevin; Cohen, Steven; Hammoud, Sommer; Henstenburg, Jeffrey; Godshaw, Brian; Hughes, Jonathan; Lin, Albert; Lesniak, Bryson; Boden, Stephanie; Cordasco, Frank; Perea, Sofia Hidalgo; Brusalis, Christopher; Green, Daniel; Gould, Heath; Dreese, James; Remy, Lindsay; Golijanin, Petar; Peebles, Annalise; Douglass, Brenton; Arner, Justin; Provencher, Matthew; Peebles, Liam; Knapik, Derrick; Lambers, Floor; Malloy, Phil; Chahla, Jorge; Nho, Shane; Alter, Thomas; Rauck, Ryan; Jahandar, Amir; Kontaxis, Andreas; Dines, David; Warren, Russell; Gulotta, Lawrence; Taylor, Samuel; Maldonado, David; Ouyang, Vivian; Owens, Jade; Jimenez, Andrew; Saks, Benjamin; Sabetian, Payam; Lall, Ajay; Domb, Benjamin; Hurley, Eoghan; Markus, Danielle; Britton, Briana; Vasavada, Kinjal; Rokito, Andrew; Jazrawi, Laith; Gonzalez-Lomas, Guillem; Kaplan, Kevin; Alaia, Michael; Ganley, Theodore; Ellis, Henry; Shimberg, Jilan; Cruz, Aristides; Aoyama, Julien; Fabricant, Peter; Green, Daniel; Johnson, Benjamin; Kushare, Indranil; Lee, R Jay; McKay, Scott; Milbrandt, Todd; Patel, Neeraj; Rhodes, Jason; Sachleben, Brant; Traver, Jessica; Mistovich, Justin; Schmale, Gregory; Leska, Tomasina; Cook, Danielle; Yen, Yi-Meng; McGurty, Shannon; Brady, Jacqueline; Gruber, Simone; Veerkamp, Matthew; Nguyen, Joseph; Heyworth, Benton; Tompkins, Marc; Green, Daniel; Wall, Eric; Stein, Beth Shubin; Parikh, Shital; Bishop, Meghan; Waltz, Robert; Comfort, Spencer; Philippon, Marc; Jildeh, Toufic; Chaudhry, Farhan; Abbas, Muhammad; Mahmoud, Ossama; Turner, Elizabeth; Hengy, Meredith; Okoroha, Kelechi; Castle, Joshua; Eliasberg, Claire; Chen, Tony; Kelly, James; Havasy, Janice; Piacentini, Alexander; Liu, Yulei; Singh, Purva; Morita, Wataru; Caughey, Sarah; Fung, Edward; Otero, Miguel; Babich, John; Rodeo, Scott; Carballo, Camila; Sharareh, Behnam; Tamma, Poornima; Shah, Anup; Barrera, Lindsay; Schaver, Andrew; Glass, Natalie; Duchman, Kyle; Wolf, Brian; Westermann, Robert; Crutchfield, Connor; Givens, Ritt; O’Connor, Michaela; Lynch, T Sean; Macknofsky, Brandon; Brown, Shimron; Lavin, Alessia; Sabesan, Vani; Bolia, Ioanna; Murray, Iain; Hasan, Laith; Haratian, Aryan; Gamradt, Seth; Meyer, John; Omid, Reza; Petrigliano, Frank; Weber, Alexander; Condron, Nolan; Meeker, Zachary; Kaiser, Joshua; Darwish, Reem; Gilat, Ron; Knapik, Derrick; Yanke, Adam; Cole, Brian; Wagner, Kyle; Williams, Jonathan; Rucinski, Kylee; Stucky, Renee; Nuelle, Clayton; Stannard, James; Cook, James; Jildeh, Toufic; Buckley, Patrick; Abbas, Muhammad; Hedge, Yash; Okoroha, Kelechi; Castle, Joshua; Cotter, Daniel; Lau, Emily; Abbas, Muhammad; Kadouh, Ali; Fehmi, Ziad; Jildeh, Toufic; Moutzouros, Vasilios; Castle, Joshua; Brown, Isaiah; Anderson, Scott; Ahmed, Anwar; Boden, Barry; Huckleby, Jeremy; Nunally, Kianna; Cook, Danielle; Hussain, Zaamin; Zheng, Evan; Yen, Yi-Meng; Kramer, Dennis; Micheli, Lyle; Kocher, Mininder; Heyworth, Benton; Wilson, Benjamin; Anderson, Matthew; Mack, Christina; Herzog, Mackenzie; Levine, William; Confino, Jamie; Coene, Ryan; Pang, Joshua; Fabricant, Peter; Nepple, Jeffrey; Matava, Matthew; Heyworth, Benton; Castle, Joshua; Jildeh, Toufic; McGee, Anna; Abbas, Muhammad; Buckley, Patrick; Okoroha, Kelechi; Kolowich, Patricia; Moutzouros, Vasilios; Tramer, Joseph; Sodhi, Alisha; Wadhavkar, Isha; Varadarajan, Kartik; Muratoglu, Orhun; Borjali, Alireza; Tanaka, Miho; Ahsan, Zahab; Razu, Swithin; Zhu, Andrew; Jahandar, Hamid; Imhauser, Carl; Wickiewicz, Thomas; Nawabi, Danyal; Pearle, Andrew; Patel, Ronak; Featherall, Joseph; Froerer, Devin; Mortensen, Alexander; Aoki, Stephen; Metz, Allan; Wu, Shannon; Upfill-Brown, Alexander; Bugarin, Amador; Jones, Kristofer; Kremen, Thomas; Shi, Brendan; Tompkins, Marc; Yen, Yi-Meng; Karius, Alex; Cinque, Mark; Vuong, Brian; Ganley, Theodore; Wilson, Philip; Ellis, Henry; Green, Daniel; Fabricant, Peter; Boucher, Laura; Shea, Kevin; Dingel, Aleksei; Horan, Marilee; Rakowski, Dylan; Hanson, Jared; Millett, Peter; Pearce, Stephanie; Provencher, Matthew; Mariani, Pier; Haber, Daniel; Peebles, Annalise; Arner, Justin; Midtgaard, Kaare; Peebles, Liam; Kures, Alexander; Guglielmo, Torre; Battaglia, Michael; Mori, Daisuke; Sivasundaram, Lakshmanan; Browning, Robert; Holland, Tai; Paul, Katlynn; Nho, Shane; Rice, Morgan; Ryan, Michael; Fleisig, Glenn; Mundy, Andrew; Emblom, Benton; Andrews, James; Cain, E Lyle; Dugas, Jeffrey; Rothermich, Marcus; Jazrawi, Laith; Samuels, Jonathan; Vasavada, Kinjal; Brinkman, Joseph; Makovicka, Justin; Economopoulos, Kostas; Leary, Steven; Henrichsen, Jake; Schaver, Andrew; Willey, Michael; Paulson, Amanda; Westermann, Robert; Metz, Allan; Froerer, Devin; Mortensen, Alexander; Aoki, Stephen; Featherall, Joseph; Patel, Mit; McGee, Anna; Castle, Joshua; Elhage, Kareem; Lizzio, Vincent; Makhni, Eric; Keith, Katherine; Duchman, Kyle; Cohen, Brian; Wolf, Brian; Bishop, Julie; Baumgarten, Keith; Shoulder, MOON; Brophy, Robert; Hettrich, Carolyn; Dunn, Warren; Cooper, Savannah; Johnson, Benjamin; Youngman, Tyler; Wilson, Philip; Sucato, Daniel; Podeszwa, David; Ellis, Henry; Serbin, Philip; Wilbur, Ryan; Song, Bryant; Reinholz, Anna; Till, Sara; Okoroha, Kelechi; Krych, Aaron; Camp, Christopher; Smartt, Anne; Bryniarski, Anna; Brown, Justin; Waltz, Robert; Haytmanek, Tommy; Kreulen, Christopher; Clanton, Thomas; Brady, Alex; Rakowski, Dylan; Woolson, Thomas; Horan, Marilee; Millett, Peter; Gruskay, Jordan; O’hara, Kelsey; Mullen, Michael; Oberlohr, Verena; Hambright, Sealy; Huard, Johnny; Duke, Victoria; Millett, Peter; Provencher, Matthew; Casp, Aaron; Lee, Simon; Rakowski, Dylan; Peebles, Annalise; Ernat, Justin; Kamdar, Parth; Antonacci, Christopher; Vadasdi, Katherine; Greene, R; Alberta, Francis; Sethi, Paul; Liddy, Nicole; Chen, Stephen; Mittwede, Peter; Moloney, Gele; Lin, Albert; Charles, Shaquille; Tomasevich, Kelly; Ohlsen, Suzanna; O, Dillon; Featherall, Joseph; Aoki, Stephen; Mortensen, Alexander; Johnson, Emma; Hall, Anya; Clements, Ari; Bishop, Meghan; Ciccotti, Michael; Cohen, Steven; Erickson, Brandon; Paul, Ryan; Diaz, Connor; Berlinberg, Elyse; Korrapati, Avinaash; Cole, Brian; Cvetanovich, Gregory; Yanke, Adam; Romeo, Anthony; Verma, Nikhil; Forsythe, Brian; Martin, Maitland; Bradley, Helen; Hanley, Meghan; Griffin, Laurie; Godin, Jonathan; Dornan, Grant; Hackett, Thomas; Gruskay, Jordan; Anderson, Gregory; Barras, Laurel; Graf, Ryan; Moran, Thomas; Gwathmey, F Winston; Diduch, David; Miller, Mark; MacLean, Ian; Anderson, Gregory; Hart, Joseph; Shank, Kaitlyn; Yalçin, Sercan; Fury, Matthew; Elias, John; Tanaka, Miho; Farrow, Lutul; Diduch, David; Cosgarea, Andrew; Kreulen, Timothy; Hall, Anya; Hahn, Alexander; Pepe, Matthew; Tucker, Bradford; Tjoumakaris, Fotios; Johnson, Emma; Hurley, Eoghan; Bi, Andrew; Mojica, Edward; Campbell, Kirk; Strauss, Eric; Markus, Danielle; Xie, Dongxing; Murray, John; Lartey, Richard; Gaj, Sibaji; Kim, Jeehun; Eck, Brendan; Winalski, Carl; Altahawi, Faysal; Jones, Morgan; Huston, Laura; Harkins, Kevin; Merrin, Lindsay; Knopp, Michael; Kaeding, Christopher; Spindler, Kurt; Li, Xiaojuan; Branch, Eric; Emami, Alex; Plummer, Hillary; Anz, Adam; Bailey, Lane; Mullane, Aaron; Kleihege, Jacquelyn; Paine, Russell; Flores, Steven; Lowe, Walter; Marconi, Dante; Bryniarski, Anna; Gruskay, Jordan; Brady, Alex; Bartolomei, Christopher; Vidal, Armando; Godin, Jonathan; Pearce, Stephanie; MacDonald, Peter; McRae, Sheila; Lapner, Peter; Old, Jason; Marsh, Jon; Dubberley, James; Stranges, Gregory; Woodmass, Jarret; Kamikovski, Ivan; Chalmers, Peter; D’Angelo, John; Ma, Kevin; Rowe, Dana; Ciccotti, Michael; Romeo, Anthony; Erickson, Brandon; Ibarra, Clemente; Olivos-Meza, Anell; Velasquillo, Cristina; Barbosa, Fernando; Ramirez-Carrera, Myriam; Villalobos-Cordova, Felix; Madrazo-Ibarra, Antonio; Davies, Michael; Kucirek, Natalie; Motamedi, Daria; Ma, C Benjamin; Feeley, Brian; Lansdown, Drew; Dennis, Elizabeth; Ling, Daphne; Hannafin, Jo; Ammerman, Brittany; Fury, Matthew; Liu, Tianyu; Oh, Luke; O’Donnell, Evan; Tauro, Tracy; Credille, Kevin; Dandu, Navya; Wong, Stephanie; Chahla, Jorge; Forsythe, Brian; Yanke, Adam; Cole, Brian; Verma, Nikhil; Huddleston, Hailey; Schroeder, Grant; McClintick, Daniel; Trikha, Rishi; Kremen, Thomas; Hannon, Charles; Dandu, Navya; Huddleston, Hailey; McIlwraith, Wayne; Frisbie, David; Hakimiyan, Arnavaz; Chubinskaya, Susan; Cole, Brian; Yanke, Adam; Mansur, Nacime; Dibbern, Kevin; Lalevee, Matthieu; Netto, Cesar de Cesar; Shamrock, Alan; LaPrade, Robert; Dornan, Grant; Kennedy, Mitchell; Cram, Tyler; Dekker, Travis; Strauss, Marc; Engebretsen, Lars; Lind, Martin; DePhillipo, Nicholas; Williams, Jonathan; Rucinski, Kylee; Bozynski, Chantelle; Nuelle, Clayton; Stannard, James; Cook, James; Jasty, Naveen; Heyworth, Benton; Spindler, Kurt; Jin, Yuxuan; Jones, Morgan; Gao, Xueqin; Hambright, Sealy; Whitney, Kaitlyn; Huard, Matthieu; Murata, Yoichi; Nolte, Philip; Stake, Ingrid; Huard, Charles; Ravuri, Sudheer; Philippon, Marc; Huard, Johnny; Fukase, Naomasa; Ellis, Henry; Wyatt, Charles; Johnson, Benjamin; Cooper, Savannah; Carpenter, Connor; Wilson, Philip; Singleton, Steven; Hannon, Joseph; Waller, Alexandra; Garrison, Craig; Scofield, Harrison; Wilbur, Ryan; Till, Sara; Reinholz, Anna; Barlow, Jonathan; Sanchez-Sotelo, Joaquin; Camp, Christopher; Tagliero, Adam; Cinque, Mark; Chona, Deepak; Abrams, Geoffrey; Sherman, Seth; Safran, Marc; Freehill, Michael; LaPrade, Christopher; Yanke, Adam; Dandu, Navya; Bodendorfer, Blake; Darwish, Reem; Zavras, Athan; Forsythe, Brian; Cole, Brian; Trasolini, Nicholas; Devana, Sai; Solorzano, Carlos; Vail, Jeremy; Jones, Kristofer; Wilbur, Ryan; Song, Bryant; Wasserburger, Jory; Camp, Christopher; Krych, Aaron; Stuart, Michael; Kruckeberg, Bradley; Di Martino, Alessandro; Andriolo, Luca; Boffa, Angelo; Poggi, Alberto; Kon, Elizaveta; Filardo, Giuseppe; Zaffagnini, Stefano; Johnson, Emma; Kemler, Bryson; Walley, Kempland; Ciccotti, Michael; Hammoud, Sommer; Johns, William; Bruce, Amelia; Diduch, David; Miller, Mark; Brockmeier, Stephen; Gwathmey, F Winston; Werner, Brian; Hart, Joseph; Bodkin, Stephan; Zhang, Alan; Ma, C Benjamin; Feeley, Brian; Ortiz, Shannon; Hettrich, Carolyn; Wolf, Brian; Patel, Jhillika; Lansdown, Drew; Freshman, Ryan; Fife, Johnathan; McGee, Anna; Swantek, Alexander; Makhni, Eric; Dowling, Brittany; Pauley, Patrick; Verma, Nikhil; Garrigues, Grant; Hodakowski, Alexander; Kamenaga, Tomoyuki; Haneda, Masahiko; Brophy, Robert; Nahal, Chadi; O’Keefe, Regis; Clohisy, John; Garrido, Cecilia Pascual; Tao, Matthew; Wellsandt, Elizabeth; Manzer, Melissa; Amirtharaj, Mark; Salesky, Madeleine; Halvorson, Ryan; Zhang, Alan; Feeley, Brian; Ma, C Benjamin; Colyvas, Nicholas; Leavitt, Andrew; Lansdown, Drew; Holler, Jordan; Chang, Richard; Royse, Kathryn; Burfeind, William; Ding, David; Maletis, Gregory; Heffner, Michael; Anderson, Ashley; Mescher, Patrick; Tennent, David; LeClere, Lance; Rue, John Paul; Owens, Brett; Cameron, Kenneth; Posner, Matthew; Dickens, Jonathan; Donohue, Michael; Yow, Bobby; Streicher, Sydney; Osman, Alim; Zareef, Usman; Ukekwe, Chukwuka; Freedman, Kevin; Erickson, Brandon; Hammoud, Sommer; Bishop, Meghan; Paul, Ryan; Lemos, Jacie; Hwang, Calvin; Sherman, Seth; Safran, Marc; Abrams, Geoffrey; Xiao, Michelle; Feeley, Scott; Ahsan, Zahab; Kim, Ho Bin; Marom, Niv; Jahandar, Hamidreza; Fraychineaud, Thomas; Zayyad, Zaid; Wickiewicz, Thomas; Imhauser, Carl; Pearle, Andrew; Nawabi, Danyal; Patel, Ronak; Ayres, Jack; Messamore, William; Tarakemeh, Armin; Baker, Jordan; Salazar, Luis; Vopat, Bryan; Darche, JP; Hedberg, Riley; Jacobs, Cale; Lemaster, Nicole; Ortiz, Shannon; Magnuson, Justin; Hettrich, Carolyn; Nichols, Michael; Collins, Dylon; Geringer, Ryan; Baker, Champ; Fink, Julia; Money, Adam; Gudeman, Andrew; Shea, Kevin; Farr, Jack; Abrams, Geoffrey; Safran, Marc; Sherman, Seth; Varshneya, Kunal; Vasavada, Kinjal; Hurley, Eoghan; Strauss, Eric; Campbell, Kirk; Gonzalez-Lomas, Guillem; Jazrawi, Laith; Alaia, Michael; Strauss, Eric; Markus, Danielle; Schiffman, Brett; Gould, Heath; Forthman, Christopher; Murthi, Anand; Deal, James; Arner, Justin; Bradley, James; Edwards, Callee; Whicker, Emily; Rothrauff, Benjamin; Kanto, Ryo; Byrne, Kevin; Drain, Nicholas; Fu, Freddie; Onishi, Kentaro; Takeuchi, Satoshi; Till, Sara; Song, Bryant; Wilbur, Ryan; Reinholz, Anna; Sanchez-Sotelo, Joaquin; Barlow, Jonathan; Camp, Christopher; Tagliero, Adam; Tucker, Lue-Yen; Vieira, Amy; Ding, David; Thomassen, Stephan; Winkler, Philipp; Lucidi, Gian Andrea; Firth, Andrew; Musahl, Volker; Getgood, Alan; Vivacqua, Thiago; Kida, Yoshikazu; Kobayashi, Yusuke; Sukenari, Tsuyoshi; Minami, Masataka; Kotoura, Yoshihiro; Takahashi, Kenji; Takatsuji, Kenta; Magee, Lawrence; McCulloch, Patrick; Lambert, Bradley; Xiao, Angel; McGinley, Beau; Gottschalk, Michael; Wagner, Eric; Sanchez, Mark; Gupta, Anshal; Rohde, Matthew; Ayala, Salvador; Ellis, Henry; Tompkins, Marc; Wilson, Philip; Sherman, Seth; Green, Daniel; Ganley, Theodore; Yen, Yi-Meng; Shea, Kevin; Thomas, Nicholas; Bonfield, Tracey; Furdock, Ryan; Harrison, Laurie; Fletcher, David; Rudo, Evan; Calcei, Jacob; Voos, James; Martinez, Alejandro Morales; Caliva, Francesco; Pedoia, Valentina; Lansdown, Drew; Namiri, Nikan; Carbone, Andrew; Wang, Kevin; Chu, Brennan; Darden, Christon; Shrestha, Nancy; Colvin, Alexis; Anthony, Shawn; Gladstone, James; Tiao, Justin; Bhargava, Kathrine; Docter, Shgufta; Park, Sam Si-Hyeong; Lee, Jong Min; Engler, Ian; salzler, matthew; Gill, Thomas; Chen, Kevin; Bennett, Abbie; Beck, Jennifer; Shi, Brendan; Yoder, Mason; Veerkamp, Matthew; McDonald, Colin; Parikh, Shital; Rai, Ajinkya; Charles, Shaquille; Lesniak, Bryson; Rodosky, Mark; Lin, Albert; Barrow, Aaron; Smartt, Anne; Song, Bryant; Wilbur, Ryan; Reinholz, Anna; Till, Sara; Okoroha, Kelechi; Krych, Aaron; Camp, Christopher; Huston, Laura; Ghetti, Claudio; Michelin, Richard; Fogleman, Sarah; Gornick, Bryn; Carroll, Alyssa; Edmonds, Eric; Schlechter, John; Provencher, Matthew; Brady, Alex; Dornan, Grant; Bartolomei, Christopher; Miles, Jon; Millett, Peter; Brown, Justin; Waltz, Robert; Tremblay, Paul; Getgood, Alan; Bryant, Dianne; Marmura, Hana; Fogleman, Sarah; Fronek, Jan; Leek, Bryan; Carroll, Alyssa; Pennock, Andrew; Edmonds, Eric; Colantonio, Donald; Le, Anthony; Lee, Richard; Piscoya, Andres; Eckel, Tobin; Lundy, Alexander; Sgroi, Terrance; Estrada, Jennifer; Mcelheny, Kathryn; Dines, Joshua; Altchek, David; Carr, James; Trunz, Lukas; Dodson, Christopher; Zoga, Adam; Cohen, Steven; Roedl, Johannes; Easton, Sarah; Sahbazoglu, Berke; Pei, Guangsheng; Pothiawala, Azim; matthias, nadine; Ang, Bryan; Huard, Johnny; Zhao, Zhongming; Nakayama, Naoki; Goljan, Peter; DeBottis, Daniel; Grumet, Robert; Kruse, David; Rivadeneyra, Adam; Shields, Troy; Parilla, Frank; Garrido, Cecilia Pascual; Ince, Deniz; Pashos, Gail; Clohisy, John; Nepple, Jeffrey; Bedrin, Micheal; Yow, Bobby; Nelson, Sarah; LeClere, Lance; Dickens, Jonathan; Mescher, Patrick; Godshaw, Brian; Hughes, Jonathan; Lin, Albert; Lesniak, Bryson; Boden, Stephanie; Mehta, Shayna; Zheng, Evan; Segovia, Nicole; Rizzone, Katherine; Halstead, Mark; Bohon, Tiffany; Brown, Naomi; Stinson, Zachary; Nussbaum, Eric; Gray, Aaron; Kraus, Emily; Heyworth, Benton; Szeto, Hazel; Zhang, Ying; Liu, Shaohua; Rodeo, Scott; ZHANG, XUEYING; Alkhatib, Loiy; McRae, Sheila; Lapner, Peter; Mascarenhas, Randhir; Neogi, Devdatta; MacDonald, Peter; Woodmass, Jarret; Steward, Joshua; Warth, Ryan; Haidar, Layla; Lowe, Walter; Mansour, Alfred; Domb, Benjamin; Glein, Rachel; Miecznikowski, Kara; Maldonado, David; MD,MS, Ajay Lall; Jimenez, Andrew; Bae, Donald; Boutelle, Kelly; Busch, Michael; Carroll, Alyssa; Edmonds, Eric; Ellis, Henry; Hergott, Katelyn; Kocher, Mininder; Li, G Ying; Nepple, Jeffrey; Pandya, Nirav; Perkins, Crystal; Polinsky, Samuel; Sabatini, Coleen; Spence, David; Willimon, Samuel; Wilson, Philip; Heyworth, Benton; Pennock, Andrew; Shamrock, Alan; Mansur, Nacime; Dibbern, Kevin; Netto, Cesar de Cesar; Martin, O; Hartog, Taylor Den; Helm, J Matthew; Berrier, Ava; Vega, Jose; Yalçin, Sercan; Kunze, Kyle; Harris, Joshua; Feingold, Jake; Ramkumar, Prem; Marmor, William; Propp, Bennett; Erickson, Brandon; Gruber, Simone; Nguyen, Joseph; Stein, Beth Shubin; Dennis, Elizabeth; Zaffagnini, Stefano; Grassi, Alberto; Agostinone, Piero; Fabbro, Giacomo Dal; Pizza, Nicola; Di Paolo, Stefano; Lucidi, Gian Andrea; Kida, Yoshikazu; Takatsuji, Kenta; Sukenari, Tsuyoshi; Furukawa, Ryuhei; Minami, Masataka; Morihara, Toru; Takahashi, Kenji; Kotoura, Yoshihiro; Roedl, Johannes; Coleman, Struan; Zoga, Adam; Meyers, William; Poor, Alexander; Hacker, Scott; McKeon, Brian; Jones, Deryk; Manzi, Joseph; Estrada, Jennifer; Dowling, Brittany; Zeitlin, Jacob; Ruzbarsky, Joseph; Ciccotti, Michael; Mcelheny, Kathryn; Carr, James; Dines, Joshua; Jimenez, Andrew; Monahan, Peter; Owens, Jade; Lall, Ajay; Domb, Benjamin; Maldonado, David; Stoker, Aaron; Leary, Emily; Bozynski, Chantelle; Stannard, James; Cook, James; Ewing, Michael; Farina, Evan; Leite, Chilan; Ackermann, Jakob; Gortz, Simon; Lattermann, Christian; Gomoll, Andreas; Merkely, Gergo; Webster, Emily; Jones, Mary; Williams, Andy; Borque, Kyle; Como, Christopher; Barrow, Aaron; Dunn, Robin; Lin, Albert; Rai, Ajinkya; Ryskamp, David; Gonzalez, Roberto; Cavendish, Parker; Milliron, Eric; Dibartola, Alex; Duerr, Robert; Kaeding, Christopher; Flanigan, David; Magnussen, Robert; Meeks, Brett; Brusalis, Christopher; Jahandar, Amir; Kontaxis, Andreas; Taylor, Samuel; Rauck, Ryan; Bezold, Will; Cook, Cristi; Krych, Aaron; Stuart, Michael; Wijdicks, Coen; Cook, James; Smith, Patrick; Varshneya, Kunal; Abrams, Geoffrey; Sherman, Seth; Safran, Marc; Harris, Jeremy; Freeston, Jonathan; Soloff, Lonnie; Himmerick, Daniel; Pipkin, Andrew; Genin, Jason; Schickendantz, Mark; Frangiamore, Salvatore; Maier, Jacob; Mercurio, Angela; Coene, Ryan; Cook, Danielle; Feldman, Lanna; Milewski, Matthew; Ferreira, Alexandre; Carrozzo, Alessandro; Guy, Sylvain; Vieira, Thais; Barth, Johannes; Sonnery-Cottet, Bertrand; Saithna, Adnan; Forlenza, Enrico; Okoroha, Kelechi; Williams, Brady; Patel, Harsh; Manderle, Brandon; Beletsky, Alexander; Chahla, Jorge; Yanke, Adam; Cole, Brian; Verma, Nikhil; Forsythe, Brian

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

HOPS复合物亚基VPS41的双等位基因变异会导致小脑共济失调和膜转运异常。

Sanderson, Leslie E; Lanko, Kristina; Alsagob, Maysoon; Almass, Rawan; Al-Ahmadi, Nada; Najafi, Maryam; Al-Muhaizea, Mohammad A; Alzaidan, Hamad; AlDhalaan, Hesham; Perenthaler, Elena; van der Linde, Herma C; Nikoncuk, Anita; Kühn, Nikolas A; Antony, Dinu; Owaidah, Tarek Mustafa; Raskin, Salmo; Vieira, Luana Gabriela Dalla Rosa; Mombach, Romulo; Ahangari, Najmeh; Silveira, Tainá Regina Damaceno; Ameziane, Najim; Rolfs, Arndt; Alharbi, Aljohara; Sabbagh, Raghda M; AlAhmadi, Khalid; Alawam, Bashayer; Ghebeh, Hazem; AlHargan, Aljouhra; Albader, Anoud A; Binhumaid, Faisal S; Goljan, Ewa; Monies, Dorota; Mustafa, Osama M; Aldosary, Mazhor; AlBakheet, Albandary; Alyounes, Banan; Almutairi, Faten; Al-Odaib, Ali; Aksoy, Durdane Bekar; Basak, A Nazli; Palvadeau, Robin; Trabzuni, Daniah; Rosenfeld, Jill A; Karimiani, Ehsan Ghayoor; Meyer, Brian F; Karakas, Bedri; Al-Mohanna, Futwan; Arold, Stefan T; Colak, Dilek; Maroofian, Reza; Houlden, Henry; Bertoli-Avella, Aida M; Schmidts, Miriam; Barakat, Tahsin Stefan; van Ham, Tjakko J; Kaya, Namik

Association of maternal vitamin B(12) and folate levels in early pregnancy with gestational diabetes: a prospective UK cohort study (PRiDE study)

孕早期母体维生素B(12)和叶酸水平与妊娠期糖尿病的关系:一项英国前瞻性队列研究(PRiDE研究)

Saravanan, Ponnusamy; Sukumar, Nithya; Adaikalakoteswari, Antonysunil; Goljan, Ilona; Venkataraman, Hema; Gopinath, Amitha; Bagias, Christos; Yajnik, Chittaranjan S; Stallard, Nigel; Ghebremichael-Weldeselassie, Yonas; Fall, Caroline H D

Fly Ash with Ammonia: Properties and Emission of Ammonia from Cement Composites

含氨粉煤灰:水泥复合材料的性能及氨排放

Chyliński, Filip; Goljan, Anna; Michalik, Agnieszka

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

从高度近亲结婚人群的大规模、一级临床外显子组测序中汲取的经验教训

Monies, Dorota; Abouelhoda, Mohammed; Assoum, Mirna; Moghrabi, Nabil; Rafiullah, Rafiullah; Almontashiri, Naif; Alowain, Mohammed; Alzaidan, Hamad; Alsayed, Moeen; Subhani, Shazia; Cupler, Edward; Faden, Maha; Alhashem, Amal; Qari, Alya; Chedrawi, Aziza; Aldhalaan, Hisham; Kurdi, Wesam; Khan, Sameena; Rahbeeni, Zuhair; Alotaibi, Maha; Goljan, Ewa; Elbardisy, Hadeel; ElKalioby, Mohamed; Shah, Zeeshan; Alruwaili, Hibah; Jaafar, Amal; Albar, Ranad; Akilan, Asma; Tayeb, Hamsa; Tahir, Asma; Fawzy, Mohammed; Nasr, Mohammed; Makki, Shaza; Alfaifi, Abdullah; Akleh, Hanna; Yamani, Suad; Bubshait, Dalal; Mahnashi, Mohammed; Basha, Talal; Alsagheir, Afaf; Khaled, Musad Abu; Alsaleem, Khalid; Almugbel, Maisoon; Badawi, Manal; Bashiri, Fahad; Bohlega, Saeed; Sulaiman, Raashida; Tous, Ehab; Ahmed, Syed; Algoufi, Talal; Al-Mousa, Hamoud; Alaki, Emadia; Alhumaidi, Susan; Alghamdi, Hadeel; Alghamdi, Malak; Sahly, Ahmed; Nahrir, Shapar; Al-Ahmari, Ali; Alkuraya, Hisham; Almehaidib, Ali; Abanemai, Mohammed; Alsohaibaini, Fahad; Alsaud, Bandar; Arnaout, Rand; Abdel-Salam, Ghada M H; Aldhekri, Hasan; AlKhater, Suzan; Alqadi, Khalid; Alsabban, Essam; Alshareef, Turki; Awartani, Khalid; Banjar, Hanaa; Alsahan, Nada; Abosoudah, Ibraheem; Alashwal, Abdullah; Aldekhail, Wajeeh; Alhajjar, Sami; Al-Mayouf, Sulaiman; Alsemari, Abdulaziz; Alshuaibi, Walaa; Altala, Saeed; Altalhi, Abdulhadi; Baz, Salah; Hamad, Muddathir; Abalkhail, Tariq; Alenazi, Badi; Alkaff, Alya; Almohareb, Fahad; Al Mutairi, Fuad; Alsaleh, Mona; Alsonbul, Abdullah; Alzelaye, Somaya; Bahzad, Shakir; Manee, Abdulaziz Bin; Jarrad, Ola; Meriki, Neama; Albeirouti, Bassem; Alqasmi, Amal; AlBalwi, Mohammed; Makhseed, Nawal; Hassan, Saeed; Salih, Isam; Salih, Mustafa A; Shaheen, Marwan; Sermin, Saadeh; Shahrukh, Shamsad; Hashmi, Shahrukh; Shawli, Ayman; Tajuddin, Ameen; Tamim, Abdullah; Alnahari, Ahmed; Ghemlas, Ibrahim; Hussein, Maged; Wali, Sami; Murad, Hatem; Meyer, Brian F; Alkuraya, Fowzan S

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

从高度近亲结婚人群的大规模、一级临床外显子组测序中汲取的经验教训

Monies, Dorota; Abouelhoda, Mohammed; Assoum, Mirna; Moghrabi, Nabil; Rafiullah, Rafiullah; Almontashiri, Naif; Alowain, Mohammed; Alzaidan, Hamad; Alsayed, Moeen; Subhani, Shazia; Cupler, Edward; Faden, Maha; Alhashem, Amal; Qari, Alya; Chedrawi, Aziza; Aldhalaan, Hisham; Kurdi, Wesam; Khan, Sameena; Rahbeeni, Zuhair; Alotaibi, Maha; Goljan, Ewa; Elbardisy, Hadeel; ElKalioby, Mohamed; Shah, Zeeshan; Alruwaili, Hibah; Jaafar, Amal; Albar, Ranad; Akilan, Asma; Tayeb, Hamsa; Tahir, Asma; Fawzy, Mohammed; Nasr, Mohammed; Makki, Shaza; Alfaifi, Abdullah; Akleh, Hanna; Yamani, Suad; Bubshait, Dalal; Mahnashi, Mohammed; Basha, Talal; Alsagheir, Afaf; Abu Khaled, Musad; Alsaleem, Khalid; Almugbel, Maisoon; Badawi, Manal; Bashiri, Fahad; Bohlega, Saeed; Sulaiman, Raashida; Tous, Ehab; Ahmed, Syed; Algoufi, Talal; Al-Mousa, Hamoud; Alaki, Emadia; Alhumaidi, Susan; Alghamdi, Hadeel; Alghamdi, Malak; Sahly, Ahmed; Nahrir, Shapar; Al-Ahmari, Ali; Alkuraya, Hisham; Almehaidib, Ali; Abanemai, Mohammed; Alsohaibaini, Fahad; Alsaud, Bandar; Arnaout, Rand; Abdel-Salam, Ghada M H; Aldhekri, Hasan; AlKhater, Suzan; Alqadi, Khalid; Alsabban, Essam; Alshareef, Turki; Awartani, Khalid; Banjar, Hanaa; Alsahan, Nada; Abosoudah, Ibraheem; Alashwal, Abdullah; Aldekhail, Wajeeh; Alhajjar, Sami; Al-Mayouf, Sulaiman; Alsemari, Abdulaziz; Alshuaibi, Walaa; Altala, Saeed; Altalhi, Abdulhadi; Baz, Salah; Hamad, Muddathir; Abalkhail, Tariq; Alenazi, Badi; Alkaff, Alya; Almohareb, Fahad; Al Mutairi, Fuad; Alsaleh, Mona; Alsonbul, Abdullah; Alzelaye, Somaya; Bahzad, Shakir; Manee, Abdulaziz Bin; Jarrad, Ola; Meriki, Neama; Albeirouti, Bassem; Alqasmi, Amal; AlBalwi, Mohammed; Makhseed, Nawal; Hassan, Saeed; Salih, Isam; Salih, Mustafa A; Shaheen, Marwan; Sermin, Saadeh; Shahrukh, Shamsad; Hashmi, Shahrukh; Shawli, Ayman; Tajuddin, Ameen; Tamim, Abdullah; Alnahari, Ahmed; Ghemlas, Ibrahim; Hussein, Maged; Wali, Sami; Murad, Hatem; Meyer, Brian F; Alkuraya, Fowzan S

Autozygome and high throughput confirmation of disease genes candidacy

纯合子和高通量疾病基因候选确认

Maddirevula, Sateesh; Alzahrani, Fatema; Al-Owain, Mohammed; Al Muhaizea, Mohammad A; Kayyali, Husam R; AlHashem, Amal; Rahbeeni, Zuhair; Al-Otaibi, Maha; Alzaidan, Hamad I; Balobaid, Ameera; El Khashab, Heba Y; Bubshait, Dalal K; Faden, Maha; Yamani, Suad Al; Dabbagh, Omar; Al-Mureikhi, Mariam; Jasser, Abdulla Al; Alsaif, Hessa S; Alluhaydan, Iram; Seidahmed, Mohammed Zain; Alabbasi, Bashair Hamza; Almogarri, Ibrahim; Kurdi, Wesam; Akleh, Hana; Qari, Alya; Al Tala, Saeed M; Alhomaidi, Suzan; Kentab, Amal Y; Salih, Mustafa A; Chedrawi, Aziza; Alameer, Seham; Tabarki, Brahim; Shamseldin, Hanan E; Patel, Nisha; Ibrahim, Niema; Abdulwahab, Firdous; Samira, Menasria; Goljan, Ewa; Abouelhoda, Mohamed; Meyer, Brian F; Hashem, Mais; Shaheen, Ranad; AlShahwan, Saad; Alfadhel, Majid; Ben-Omran, Tawfeg; Al-Qattan, Mohammad M; Monies, Dorota; Alkuraya, Fowzan S