PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care

por Havrilla, James M., Singaravelu, Anbumalar, Driscoll, Dennis M., Minkovsky, Leonard, Helbig, Ingo, Medne, Livija, Wang, Kai, Krantz, Ian, Desai, Bimal R.
Publicado 2022

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

por Buchert, Rebecca, Nesbitt, Addie I., Tawamie, Hasan, Krantz, Ian D., Medne, Livija, Helbig, Ingo, Matalon, Dena R., Reis, André, Santani, Avni, Sticht, Heinrich, Abou Jamra, Rami
Publicado 2016

Ciliopathies: Coloring outside of the lines

por Strong, Alanna, Li, Dong, Mentch, Frank, Bedoukian, Emma, Hartung, Erum A., Meyers, Kevin, Skraban, Cara, Wen, Jessica, Medne, Livija, Glessner, Joseph, Watson, Deborah, Krantz, Ian, Hakonarson, Hakon
Publicado 2020

Genotype-phenotype correlations in recessive RYR1-related myopathies

por Amburgey, Kimberly, Bailey, Angela, Hwang, Jean H, Tarnopolsky, Mark A, Bonnemann, Carsten G, Medne, Livija, Mathews, Katherine D, Collins, James, Daube, Jasper R, Wellman, Gregory P, Callaghan, Brian, Clarke, Nigel F, Dowling, James J
Publicado 2013

Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy

por Ahrens-Nicklas, Rebecca C., Pappas, Christopher T., Farman, Gerrie P., Mayfield, Rachel M., Larrinaga, Tania M., Medne, Livija, Ritter, Alyssa, Krantz, Ian D., Murali, Chaya, Lin, Kimberly Y., Berger, Justin H., Yum, Sabrina W., Carreon, Chrystalle Katte, Gregorio, Carol C.
Publicado 2019

A comprehensive study of skeletal muscle imaging in FHL1 ‐related reducing body myopathy

por Mohassel, Payam, Yun, Pomi, Syeda, Safoora, Batra, Abhinandan, Bradley, Andrew J., Donkervoort, Sandra, Monges, Soledad, Cohen, Julie S., Leung, Doris G., Munell, Francina, Ortez, Carlos, Sánchez‐Montáñez, Angel, Karachunski, Peter, Brandsema, John, Medne, Livija, Chaudhry, Vinay, Tasca, Giorgio, Foley, A. Reghan, Udd, Bjarne, Arai, Andrew E., Walter, Glenn A., Bönnemann, Carsten G.
Publicado 2023

Dominant collagen XII mutations cause a distal myopathy

por Mohassel, Payam, Liewluck, Teerin, Hu, Ying, Ezzo, Daniel, Ogata, Tracy, Saade, Dimah, Neuhaus, Sarah, Bolduc, Véronique, Zou, Yaqun, Donkervoort, Sandra, Medne, Livija, Sumner, Charlotte J., Dyck, P. James B., Wierenga, Klaas J., Tennekoon, Gihan, Finkel, Richard S., Chen, Jiani, Winder, Thomas L., Staff, Nathan P., Foley, A. Reghan, Koch, Manuel, Bönnemann, Carsten G.
Publicado 2019

Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?

por Murrell, Jill R., Nesbitt, Addie May I., Baker, Samuel W., Pechter, Kieran B., Balciuniene, Jorune, Zhao, Xiaonan, Denenberg, Elizabeth H., DeChene, Elizabeth T., Wu, Chao, Jayaraman, Pushkala, Cao, Kajia, Gonzalez, Michael, Devoto, Marcella, Testori, Alessandro, Monos, John D., Dulik, Matthew C., Conlin, Laura K., Luo, Minjie, McDonald Gibson, Kristin, Guan, Qiaoning, Sarmady, Mahdi, Bhoj, Elizabeth, Helbig, Ingo, Zackai, Elaine H., Bedoukian, Emma C., Wilkens, Alisha, Tarpinian, Jennifer, Izumi, Kosuke, Skraban, Cara M., Deardorff, Matthew A., Medne, Livija, Krantz, Ian D., Krock, Bryan L., Santani, Avni B.
Publicado 2022

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial

por Krantz, Ian D., Medne, Livija, Weatherly, Jamila M., Wild, K. Taylor, Biswas, Sawona, Devkota, Batsal, Hartman, Tiffiney, Brunelli, Luca, Fishler, Kristen P., Abdul-Rahman, Omar, Euteneuer, Joshua C., Hoover, Denise, Dimmock, David, Cleary, John, Farnaes, Lauge, Knight, Jason, Schwarz, Adam J., Vargas-Shiraishi, Ofelia M., Wigby, Kristin, Zadeh, Neda, Shinawi, Marwan, Wambach, Jennifer A., Baldridge, Dustin, Cole, F. Sessions, Wegner, Daniel J., Urraca, Nora, Holtrop, Shannon, Mostafavi, Roya, Mroczkowski, Henry J., Pivnick, Eniko K., Ward, Jewell C., Talati, Ajay, Brown, Chester W., Belmont, John W., Ortega, Julia L., Robinson, Keisha D., Brocklehurst, W. Tyler, Perry, Denise L., Ajay, Subramanian S., Hagelstrom, R. Tanner, Bennett, Maren, Rajan, Vani, Taft, Ryan J.
Publicado 2021

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

por Pagnamenta, Alistair T, Kaiyrzhanov, Rauan, Zou, Yaqun, Da'as, Sahar I, Maroofian, Reza, Donkervoort, Sandra, Dominik, Natalia, Lauffer, Marlen, Ferla, Matteo P, Orioli, Andrea, Giess, Adam, Tucci, Arianna, Beetz, Christian, Sedghi, Maryam, Ansari, Behnaz, Barresi, Rita, Basiri, Keivan, Cortese, Andrea, Elgar, Greg, Fernandez-Garcia, Miguel A, Yip, Janice, Foley, A Reghan, Gutowski, Nicholas, Jungbluth, Heinz, Lassche, Saskia, Lavin, Tim, Marcelis, Carlo, Marks, Peter, Marini-Bettolo, Chiara, Medne, Livija, Moslemi, Ali-Reza, Sarkozy, Anna, Reilly, Mary M, Muntoni, Francesco, Millan, Francisca, Muraresku, Colleen C, Need, Anna C, Nemeth, Andrea H, Neuhaus, Sarah B, Norwood, Fiona, O'Donnell, Marie, O’Driscoll, Mary, Rankin, Julia, Yum, Sabrina W, Zolkipli-Cunningham, Zarazuela, Brusius, Isabell, Wunderlich, Gilbert, Karakaya, Mert, Wirth, Brunhilde, Fakhro, Khalid A, Tajsharghi, Homa, Bönnemann, Carsten G, Taylor, Jenny C, Houlden, Henry
Publicado 2021

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

por Brownstein, 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 Jr, David, 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 IW, Duzkale, Hatice, Dworzyński, 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 JH, 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, Aleš, Lovrečić, Luca, Palandačić, Anja, Peterlin, Borut, Torkamani, Ali, Wedell, Anna, Huss, Mikael, Alexeyenko, Andrey, Lindvall, Jessica M, Magnusson, Måns, 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, Lucas, F Anthony San, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Wang, Zhengyuan, Barrera, Jorge, Garcia-Lobo, Juan M, González-Lamuño, 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 MK, 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
Publicado 2014