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Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection Negi, Shloka; Stenton, Sarah L.; Berger, Seth I.; Canigiula, Paolo; Mcnulty, Brandy; Violich, Ivo; Gardner, Joshua; Hillaker, Todd; O'Rourke, Sara M.; O'Leary, Melanie C.; Carbonell, Elizabeth; Austin-Tse, Christina; Lemire, Gabrielle; Serrano, Jillian; Mangilog, Brian; Vannoy, Grace; Kolmogorov, Mikhail; Vilain, Eric; O'Donnell-Luria, Anne; Delot, Emmanuele; Miga, Karen H.; Monlong, Jean; Paten, Benedict Share Save
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets Weisburd, Ben; Sharma, Rakshya; Pata, Villem; Reimand, Tiia; Ganesh, Vijay S.; Austin-Tse, Christina; Osei-Owusu, Ikeoluwa; O'Heir, Emily; O'Leary, Melanie; Pais, Lynn; Stafki, Seth A.; Daugherty, Audrey L.; Folland, Chiara; Peric, Stojan; Fahmy, Nagia; Udd, Bjarne; Horakova, Magda; Lusakowska, Anna; Manoj, Rajanna; Nalini, Atchayaram; Karcagi, Veronika; Polavarapu, Kiran; Lochmuller, Hanns; Horvath, Rita; Bonnemann, Carsten G.; Donkervoort, Sandra; Haliloglu, Goknur; Herguner, Ozlem; Kang, Peter B.; Scott, Hamish S.; Topf, Ana; Straub, Volker; Pajusalu, Sander; Ounap, Katrin; Tiao, Grace; Rehm, Heidi L.; O'Donnell-Luria, Anne Share Save
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Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation Ranta-aho, Johanna; Felice, Kevin J.; Jonson, Per Harald; Sarparanta, Jaakko; Yvorel, Cedric; Harzallah, Ines; Touraine, Renaud; Pais, Lynn; Austin-Tse, Christina A.; Ganesh, Vijay S.; O'Leary, Melanie C.; Rehm, Heidi L.; Hehir, Michael K.; Subramony, Sub; Wu, Qian; Udd, Bjarne; Savarese, Marco Share Save
Genome Sequencing for Diagnosing Rare Diseases Wojcik, Monica H.; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S.; Wissmann, Mariel; Win, Wathone; White, Susan M.; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B.; Verboon, Jeffrey M.; VanNoy, Grace E.; Toepf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L.; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G.; Schneider, Ronen; Sankaran, Vijay G.; Sanchis-Juan, Alba; Russell, Kathryn A.; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A.; Place, Emily M.; Pajusalu, Sander; Pais, Lynn; Ounap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F.; Merkenschlager, Andreas; Marchant, Rhett G.; Mangilog, Brian E.; Madden, Jill A.; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P.; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G.; Ghaoui, Roula; Genetti, Casie A.; Gburek-Augustat, Janina; Gazda, Hanna T.; Ganesh, Vijay S.; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M.; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T.; Chung, Wendy K.; Christodoulou, John; Chao, Katherine R.; Cato, Liam D.; Bujakowska, Kinga M.; Bryen, Samantha J.; Brand, Harrison; Boennemann, Carsten G.; Beggs, Alan H.; Baxter, Samantha M.; Bartolomaeus, Tobias; Agrawal, Pankaj B.; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L.; O'Donnell-Luria, Anne Share Save
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R.; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S.; Wojcik, Monica H.; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L.; Neil, Jennifer E.; Shao, Diane D.; Walsh, Christopher A.; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H.; Gleeson, Joseph G.; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G.; Madden, Jill A.; Genetti, Casie A.; Beggs, Alan H.; Agrawal, Pankaj B.; Bujakowska, Kinga M.; Place, Emily; Pierce, Eric A.; Donkervoort, Sandra; Boennemann, Carsten G.; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M.; Toepf, Ana; Straub, Volker; Fleming, Mark D.; Pollak, Martin R.; Ounap, Katrin; Pajusalu, Sander; Donald, Kirsten A.; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G.; MacArthur, Daniel G.; Rehm, Heidi L.; Talkowski, Michael E.; Brand, Harrison; O'Donnell-Luria, Anne Share Save
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project Stenton, Sarah L.; O'Leary, Melanie C.; Lemire, Gabrielle; Vannoy, Grace E.; Ditroia, Stephanie; Ganesh, Vijay S.; Groopman, Emily; O'Heir, Emily; Mangilog, Brian; Osei-Owusu, Ikeoluwa; Pais, Lynn S.; Serrano, Jillian; Singer-Berk, Moriel; Weisburd, Ben; Wilson, Michael W.; Austin-Tse, Christina; Abdelhakim, Marwa; Althagafi, Azza; Babbi, Giulia; Bellazzi, Riccardo; Bovo, Samuele; Carta, Maria Giulia; Casadio, Rita; Coenen, Pieter-Jan; De Paoli, Federica; Floris, Matteo; Gajapathy, Manavalan; Hoehndorf, Robert; Jacobsen, Julius O. B.; Joseph, Thomas; Kamandula, Akash; Katsonis, Panagiotis; Kint, Cyrielle; Lichtarge, Olivier; Limongelli, Ivan; Lu, Yulan; Magni, Paolo; Mamidi, Tarun Karthik Kumar; Martelli, Pier Luigi; Mulargia, Marta; Nicora, Giovanna; Nykamp, Keith; Pejaver, Vikas; Peng, Yisu; Pham, Thi Hong Cam; Podda, Maurizio S.; Rao, Aditya; Rizzo, Ettore; Saipradeep, Vangala G.; Savojardo, Castrense; Schols, Peter; Shen, Yang; Sivadasan, Naveen; Smedley, Damian; Soru, Dorian; Srinivasan, Rajgopal; Sun, Yuanfei; Sunderam, Uma; Tan, Wuwei; Tiwari, Naina; Wang, Xiao; Wang, Yaqiong; Williams, Amanda; Worthey, Elizabeth A.; Yin, Rujie; You, Yuning; Zeiberg, Daniel; Zucca, Susanna; Bakolitsa, Constantina; Brenner, Steven E.; Fullerton, Stephanie M.; Radivojac, Predrag; Rehm, Heidi L.; O'Donnell-Luria, Anne Share Save
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy Donkervoort, Sandra; Mohassel, Payam; O'Leary, Melanie; Bonner, Devon E.; Hartley, Taila; Acquaye, Nicole; Brull, Astrid; Mozaffar, Tahseen; Saporta, Mario A.; Dyment, David A.; Sampson, Jacinda B.; Pajusalu, Sander; Austin-Tse, Christina; Hurth, Kyle; Cohen, Julie S.; Mcwalter, Kirsty; Warman-Chardon, Jodi; Crunk, Amy; Foley, A. Reghan; Mammen, Andrew L.; Wheeler, Matthew T.; O'Donnell-Luria, Anne; Bonnemann, Carsten G. Share Save
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies Lowther, Chelsea; Valkanas, Elise; Giordano, Jessica L.; Wang, Harold Z.; Currall, Benjamin B.; O'Keefe, Kathryn; Pierce-Hoffman, Emma; Kurtas, Nehir E.; Whelan, Christopher W.; Hao, Stephanie P.; Weisburd, Ben; Jalili, Vahid; Fu, Jack; Wong, Isaac; Collins, Ryan L.; Zhao, Xuefang; Austin-Tse, Christina A.; Evangelista, Emily; Lemire, Gabrielle; Aggarwal, Vimla S.; Lucente, Diane; Gauthier, Laura D.; Tolonen, Charlotte; Sahakian, Nareh; Stevens, Christine; An, Joon-Yong; Dong, Shan; Norton, Mary E.; Mackenzie, Tippi C.; Devlin, Bernie; Gilmore, Kelly; Powell, Bradford C.; Brandt, Alicia; Vetrini, Francesco; Divito, Michelle; Sanders, Stephan J.; Macarthur, Daniel G.; Hodge, Jennelle C.; O'Donnell-Luria, Anne; Rehm, Heidi L.; Vora, Neeta L.; Levy, Brynn; Brand, Harrison; Wapner, Ronald J.; Talkowski, Michael E. Share Save
Phenotype and genetic analysis of data collected within the first year of NeuroDev Kipkemoi, Patricia; Kim, Heesu Ally; Christ, Bjorn; O'Heir, Emily; Allen, Jake; Austin-Tse, Christina; Baxter, Samantha; Brand, Harrison; Bryant, Sam; Buser, Nick; de Menil, Victoria; Eastman, Emma; Murugasen, Serini; Galvin, Alice; Kombe, Martha; Ngombo, Alfred; Mkubwa, Beatrice; Mwangi, Paul; Kipkoech, Collins; Lovgren, Alysia; MacArthur, Daniel G.; Melly, Brigitte; Mwangasha, Katini; Martin, Alicia; Nkambule, Lethukuthula L.; Sanchis-Juan, Alba; Singer-Berk, Moriel; Talkowski, Michael E.; VanNoy, Grace; van der Merwe, Celia; Newton, Charles; O'Donnell-Luria, Anne; Abubakar, Amina; Donald, Kirsten A.; Robinson, Elise B. Share Save
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death Byrne, Alicia B.; Arts, Peer; Ha, Thuong T.; Kassahn, Karin S.; Pais, Lynn S.; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S. B.; Feng, Jinghua; Wang, Paul; Lawrence, David M.; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T. Yee; Moore, Lynette; Liebelt, Jan E.; Schreiber, Andreas W.; King-Smith, Sarah L.; Hardy, Tristan S. E.; Jackson, Matilda R.; Barnett, Christopher P.; Scott, Hamish S.; Aguet, Francois; Arachchi, Harindra M.; Austin-Tse, Christina A.; Babb, Larry; Baxter, Samantha M.; Brand, Harrison; Byrne, Alicia B.; Chang, Jaime; Chao, Katherine R.; Collins, Ryan L.; Cummings, Beryl; Delano, Kayla; DiTroia, Stephanie P.; England, Eleina; Evangelista, Emily; Everett, Selin; Francioli, Laurent C.; Fu, Jack; Ganesh, Vijay S.; Garimella, Kiran, V; Gauthier, Laura D.; Goodrich, Julia K.; Gudmundsson, Sanna; Hall, Stacey J.; Huang, Yongqing; Jahl, Steve; Laricchia, Kristen M.; Larkin, Kathryn E.; Lek, Monkol; Lemire, Gabrielle; Lipson, Rachel B.; Lovgren, Alysia Kern; MacArthur, Daniel G.; Mangilog, Brian E.; Mano, Stacy; Marshall, Jamie L.; Mullen, Thomas E.; Nguyen, Kevin K.; O'Heir, Emily; O'Leary, Melanie C.; Osei-Owusu, Ikeoluwa A.; Pais, Lynn S.; Chavez, Jorge Perez de Acha; Pierce-Hoffman, Emma; Rehm, Heidi L.; Serrano, Milan; Singer-Berk, Moriel; Snow, Hana; Solomonson, Matthew; Son, Rachel G.; Sveden, Abigail; Talkowski, Michael; Tiao, Grace; Udler, Miriam S.; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Watts, Nicholas A.; Weisburd, Ben; Williamson, Clara E.; Wilson, Michael W.; Witzgall, Lauren; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Zhang, Shifa; Abeysuriya, Disna; Ades, Lesley C.; Amor, David J.; Arbuckle, Susan; Bakshi, Madhura; Barnete, Christopher P.; Berry, Bligh; Boughtwood, Tiffany; Bournazos, Adam; Bray, Alessandra; Chan, Fiona; Chan, Yuen; Chung, Clara; Clark, Jonathan; Collett, Jackie; Colley, Alison; Collins, Felicity; Cooper, Sandra; Corbett, Mark A.; Dahlstrom, Jane E.; Dargaville, Peter; Davies, Janene; Davis, Tenielle; Dearman, Jarrad; Dissanayake, Jayanthi; Dobbins, Julia; Doyle, Helen; Dubowsky, Andrew; Edwards, Matt; Ewans, Lisa J.; Fadia, Mitali; Fennell, Andrew; Finlay, Ken; French, Andrew; Friend, Kathryn; Gardner, Alison E.; Gecz, Jozef; Graf, Nicole; Haan, Eric A.; Hollingsworth, Georgina; Horton, Ari E.; Howting, Denise; Hunter, Matthew F.; Jevon, Gareth; Kamien, Benjamin; Kennedy, Debra; Khong, T. Yee; Krivanek, Michael; Kroes, Thessa; Krzesinski, Emma, I; Kwan, Edward; Lau, Stephanie; LeBlanc, Shannon; Liebelt, Jan; Lindsey-Temple, Suzanna; Lipsett, Jill; Loo, Christine K. C.; Low, Julia; Mallawaarachchi, Amali; Manton, Nick; Matsika, Admire; Mattiske, Tessa; McGaughran, Julie; McGillivray, George; McGregor, Lesley; McKenzie, Fiona; Mittal, Namita; Moghimi, Ali; Moore, Lynette; Albayrak, Hatice Mutlu; Ng, Jessica; Nicholl, Jillian; Pachter, Nicholas; Papadimitriou, John; Parker, Renae; Parsons, Sarah; Patel, Chirag; Pawlowski, Rhonda; Perez-Jurado, Luis A.; Pinner, Jason R.; Politis, Katerina; Poulton, Cathryn; Power, Theresa; Quinn, Michael; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rorke, Steuart; Sachdev, Rani; Sallevelt, Suzanne; Sandaradura, Sarah A.; Shamassi, Maryam; Shamon, Roshan; Sherburn, Isabella; Slee, Ennie; Solinas, Annalisa; Sugo, Ella; Thompson, Elizabeth; Tripathy, Sagarika; Vasudevan, Anand; Vazquez, Melisa; Verma, Kunal; Viki, Mthulisi; Wallis, Mathew; Webber, Dani L.; Weber, Martin; Whale, Karen; Wilson, Meredith; Worgan, Lisa; Yu, Sui Share Save
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes (vol 13, 5106, 2022) Halford, Jennifer L.; Morrill, Valerie N.; Choi, Seung Hoan; Jurgens, Sean J.; Melloni, Giorgio; Marston, Nicholas A.; Weng, Lu-Chen; Nauffal, Victor; Hall, Amelia W.; Gunn, Sophia; Austin-Tse, Christina A.; Pirruccello, James P.; Khurshid, Shaan; Rehm, Heidi L.; Benjamin, Emelia J.; Boerwinkle, Eric; Brody, Jennifer A.; Correa, Adolfo; Fornwalt, Brandon K.; Gupta, Namrata; Haggerty, Christopher M.; Harris, Stephanie; Heckbert, Susan R.; Hong, Charles C.; Kooperberg, Charles; Lin, Henry J.; Loos, Ruth J. F.; Mitchell, Braxton D.; Morrison, Alanna C.; Post, Wendy; Psaty, Bruce M.; Redline, Susan; Rice, Kenneth M.; Rich, Stephen S.; Rotter, Jerome I.; Schnatz, Peter F.; Soliman, Elsayed Z.; Sotoodehnia, Nona; Wong, Eugene K.; Sabatine, Marc S.; Ruff, Christian T.; Lunetta, Kathryn L.; Ellinor, Patrick T.; Lubitz, Steven A. Share Save
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes Halford, Jennifer L.; Morrill, Valerie N.; Choi, Seung Hoan; Jurgens, Sean J.; Melloni, Giorgio; Marston, Nicholas A.; Weng, Lu-Chen; Nauffal, Victor; Hall, Amelia W.; Gunn, Sophia; Austin-Tse, Christina A.; Pirruccello, James P.; Khurshid, Shaan; Rehm, Heidi L.; Benjamin, Emelia J.; Boerwinkle, Eric; Brody, Jennifer A.; Correa, Adolfo; Fornwalt, Brandon K.; Gupta, Namrata; Haggerty, Christopher M.; Harris, Stephanie; Heckbert, Susan R.; Hong, Charles C.; Kooperberg, Charles; Lin, Henry J.; Loos, Ruth J. F.; Mitchell, Braxton D.; Morrison, Alanna C.; Post, Wendy; Psaty, Bruce M.; Redline, Susan; Rice, Kenneth M.; Rich, Stephen S.; Rotter, Jerome, I; Schnatz, Peter F.; Soliman, Elsayed Z.; Sotoodehnia, Nona; Wong, Eugene K.; Sabatine, Marc S.; Ruff, Christian T.; Lunetta, Kathryn L.; Ellinor, Patrick T.; Lubitz, Steven A. Share Save
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources DiStefano, Marina T.; Goehringer, Scott; Babb, Lawrence; Alkuraya, Fowzan S.; Amberger, Joanna; Amin, Mutaz; Austin-Tse, Christina; Balzotti, Marie; Berg, Jonathan S.; Birney, Ewan; Bocchini, Carol; Bruford, Elspeth A.; Coffey, Alison J.; Collins, Heather; Cunningham, Fiona; Daugherty, Louise C.; Einhorn, Yaron; Firth, Helen, V; Fitzpatrick, David R.; Foulger, Rebecca E.; Goldstein, Jennifer; Hamosh, Ada; Hurles, Matthew R.; Leigh, Sarah E.; Leong, Ivone U. S.; Maddirevula, Sateesh; Martin, Christa L.; McDonagh, Ellen M.; Olry, Annie; Puzriakova, Arina; Radtke, Kelly; Ramos, Erin M.; Rath, Ana; Riggs, Erin Rooney; Roberts, Angharad M.; Rodwell, Charlotte; Snow, Catherine; Stark, Zornitza; Tahiliani, Jackie; Tweedie, Susan; Ware, James S.; Weller, Phillip; Williams, Eleanor; Wright, Caroline F.; Yates, Thabo Michael; Rehm, Heidi L. Share Save
Monogenic and Polygenic Contributions to QTc Prolongation in the Population Nauffal, Victor; Morrill, Valerie N.; Jurgens, Sean J.; Choi, Seung Hoan; Hall, Amelia W.; Weng, Lu-Chen; Halford, Jennifer L.; Austin-Tse, Christina; Haggerty, Christopher M.; Harris, Stephanie L.; Wong, Eugene K.; Alonso, Alvaro; Arking, Dan E.; Benjamin, Emelia J.; Boerwinkle, Eric; Min, Yuan-, I; Correa, Adolfo; Fornwalt, Brandon K.; Heckbert, Susan R.; Kooperberg, Charles; Lin, Henry J.; J.f. Loos, Ruth; Rice, Kenneth M.; Gupta, Namrata; Blackwell, Thomas W.; Mitchell, Braxton D.; Morrison, Alanna C.; Psaty, Bruce M.; Post, Wendy S.; Redline, Susan; Rehm, Heidi L.; Rich, Stephen S.; Rotter, Jerome I.; Soliman, Elsayed Z.; Sotoodehnia, Nona; Lunetta, Kathryn L.; Ellinor, Patrick T.; Lubitz, Steven A. Share Save
seqr: A web-based analysis and collaboration tool for rare disease genomics Pais, Lynn S.; Snow, Hana; Weisburd, Ben; Zhang, Shifa; Baxter, Samantha M.; DiTroia, Stephanie; O'Heir, Emily; England, Eleina; Chao, Katherine R.; Lemire, Gabrielle; Osei-Owusu, Ikeoluwa; VanNoy, Grace E.; Wilson, Michael; Nguyen, Kevin; Arachchi, Harindra; Phu, William; Solornonson, Matthew; Mano, Stacy; O'Leary, Melanie; Lovgren, Alysia; Babb, Lawrence; Austin-Tse, Christina A.; Rehm, Heidi L.; MacArthur, Daniel G.; O'Donnell-Luria, Anne Share Save
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes Zech, Michael; Kopajtich, Robert; Steinbruecker, Katja; Bris, Celine; Gueguen, Naig; Feichtinger, Rene G.; Achleitner, Melanie T.; Duzkale, Neslihan; Perivier, Maximilien; Koch, Johannes; Engelhardt, Harald; Freisinger, Peter; Wagner, Matias; Brunet, Theresa; Berutti, Riccardo; Smirnov, Dmitrii; Navaratnarajah, Tharsini; Rodenburg, Richard J. T.; Pais, Lynn S.; Austin-Tse, Christina; O'Leary, Melanie; Boesch, Sylvia; Jech, Robert; Bakhtiari, Somayeh; Jin, Sheng Chih; Wilbert, Friederike; Kruer, Michael C.; Wortmann, Saskia B.; Eckenweiler, Matthias; Mayr, Johannes A.; Distelmaier, Felix; Steinfeld, Robert; Winkelmann, Juliane; Prokisch, Holger Share Save
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