Not logged in A comprehensive multidisciplinary thoracic aortic program improves patient quality metrics after type A aortic dissection repair Burke, Christopher R.; Sweet, Matthew P.; DeGraaff, Bret; Dhanekula, Arjune; Tugan, Dariga; Flodin, Rachel; Otto, Catherine M.; Buber, Jonathan; Byers, Peter H.; Schwarze, Ulrike; Upson, Melissa; Zettervall, Sara L.; DeRoo, Scott Share Save
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Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing Murdock, David R.; Guo, Dong-chuan; Depaolo, John S.; Schwarze, Ulrike; Duan, Xue-yan; Cecchi, Alana C.; Marin, Isabella C.; Tang, Yingying; Chong, Jessica X.; Bamshad, Michael J.; Leppig, Kathleen A.; Byers, Peter H.; Damrauer, Scott M. Share Save
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Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development Guillemyn, Brecht; De Saffel, Hanna; Bek, Jan Willem; Tapaneeyaphan, Piyanoot; De Clercq, Adelbert; Jarayseh, Tamara; Debaenst, Sophie; Willaert, Andy; De Rycke, Riet; Byers, Peter H.; Rosseel, Toon; Coucke, Paul; Blaumeiser, Bettina; Syx, Delfien; Malfait, Fransiska; Symoens, Sofie Share Save
Vertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome Stephens, Sara B.; Shalhub, Sherene; Dodd, Nicholas; Li, Jesse; Huang, Michael; Oda, Seitaro; Kancherla, Kalyan; Doan, Tam T.; Prakash, Siddharth K.; Weigand, Justin D.; Asch, Federico M.; Beecroft, Taylor; Cecchi, Alana; Shittu, Teniola; Preiss, Liliana; Lemaire, Scott A.; Devereux, Richard B.; Pyeritz, Reed E.; Holmes, Kathryn W.; Roman, Mary J.; Lacro, Ronald V.; Shohet, Ralph V.; Krishnamurthy, Rajesh; Eagle, Kim; Byers, Peter; Milewicz, Dianna M.; Morris, Shaine A. Share Save
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A Stergachis, Andrew B.; Blue, Elizabeth E.; Gillentine, Madelyn A.; Wang, Lee-Kai; Schwarze, Ulrike; Cortes, Adriana Sedeno; Ranchalis, Jane; Allworth, Aimee; Bland, Austin E.; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B.; Glass, Ian; Horike-Pyne, Martha; Huang, Alden Y.; Khan, Alyna T.; Leppig, Kathleen A.; Miller, Danny E.; Mirzaa, Ghayda; Parhin, Azma; Raskind, Wendy H.; Rosenthal, Elisabeth A.; Sheppeard, Sam; Strohbehn, Samuel; Sybert, Virginia P.; Tran, Thao T.; Wener, Mark H.; Byers, Peter H. H.; Nelson, Stanley F.; Bamshad, Michael J.; Dipple, Katrina M.; Jarvik, Gail P.; Hoppins, Suzanne; Hisama, Fuki M. Share Save
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Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome Pujol-Gimenez, Jonai; Mirzaa, Ghayda; Blue, Elizabeth E.; Albano, Giuseppe; Miller, Danny E.; Allworth, Aimee; Bennett, James T.; Byers, Peter H.; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B.; Gillentine, Madelyn A.; Glass, Ian; Hing, Anne; Horike-Pyne, Martha; Leppig, Kathleen A.; Parhin, Azma; Ranchalis, Jane; Raskind, Wendy H.; Rosenthal, Elisabeth A.; Schwarze, Ulrike; Sheppeard, Sam; Strohbehn, Samuel; Sybert, Virginia P.; Timms, Andrew; Wener, Mark; Bamshad, Michael J.; Hisama, Fuki M.; Jarvik, Gail P.; Dipple, Katrina M.; Hediger, Matthias A.; Stergachis, Andrew B. Share Save
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Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria (vol 29, pg 1186, 2021) Savige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Zietkiewicz, Beata S. Share Save
A Targeted Liquid Chromatography-Tandem Mass Spectrometry Method for Simultaneous Quantification of Peptides from the Carboxyl-terminal Region of Type III Procollagen, Biomarkers of Collagen Turnover Huynh, Huu-Hien; Forrest, Katrina; Becker, Jessica O.; Emrick, Michelle A.; Miller, Geoffrey D.; Moncrieffe, Danielle; Cowan, David A.; Thomas, Andreas; Thevis, Mario; MacCoss, Michael J.; Hoffstrom, Ben; Byers, Peter H.; Eichner, Daniel; Hoofnagle, Andrew N. Share Save
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A mixed method approach to understanding the impact of COVID-19 on patients with or at risk for aortic dissection Lee, Jenney R.; Segal, Courtney; Howitt, Jake; Lawrence, Sarah O.; Grima, Josephine; Eagle, Kim; Woo, Karen; Byers, Peter; Klein-Rogers, Eva; Milewicz, Dianna; Mussa, Firas; Soderlund, Timo; Cotter, Novelette; Case, Melanie; Trotter, Debra; Shalhub, Sherene Share Save
The Aortic Dissection Collaborative: Methods for building capacity for patient-centered outcomes research in the aortic dissection community Lee, Jenney R.; Lawrence, Sarah O.; Soto, Michael; Case, Melanie; Cotter, Novelett; Howitt, Jake; Soderlund, Timo; Trotter, Debra; Byers, Peter H.; Shalhub, Sherene Share Save
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Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta Tran, Thao T.; Keller, Rachel B.; Guillemyn, Brecht; Pepin, Melanie; Corteville, Jane E.; Khatib, Samir; Fallah, Mohammad-Sadegh; Zeinali, Sirous; Malfait, Fransiska; Symoens, Sofie; Coucke, Paul; Witters, Peter; Levtchenko, Elena; Bagherian, Hamideh; Nickerson, Deborah A.; Bamshad, Michael J.; Chong, Jessica X.; Byers, Peter H. Share Save
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A.; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A.; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F.; Martinez-Agosto, Julian A.; Palmer, Christina G. S.; Signer, Rebecca H.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Daya, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Krier, Joel B.; LaMoure, Grace L.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; MacRae, Calum A.; Macnamara, Ellen F.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Moretti, Paolo; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Rao, Deepak A.; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Signer, Rebecca H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Ben Solomon; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L. M.; Tan, Queenie K. -G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan; Andrews, Marisa V.; Grange, Dorothy K.; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiss, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P. Share Save
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