Transcriptome variation in human tissues revealed by long-read sequencing
Glinos, Dafni A., Garborcauskas, Garrett, Hoffman, Paul, Ehsan, Nava, Jiang, Lihua, Gokden, Alper, Dai, Xiaoguang, Aguet, François, Brown, Kathleen L., Garimella, Kiran, Bowers, Tera, Costello, Maura, Ardlie, Kristin, Jian, Ruiqi, Tucker, Nathan R., Ellinor, Patrick T., Harrington, Eoghan D., Tang, Hua, Snyder, Michael, Juul, Sissel, Mohammadi, Pejman, MacArthur, Daniel G., Lappalainen, Tuuli, Cummings, Beryl B.
Published in Nature (London) (11.08.2022)
Published in Nature (London) (11.08.2022)
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The ExAC browser: displaying reference data information from over 60 000 exomes
Karczewski, Konrad J, Weisburd, Ben, Thomas, Brett, Solomonson, Matthew, Ruderfer, Douglas M, Kavanagh, David, Hamamsy, Tymor, Lek, Monkol, Samocha, Kaitlin E, Cummings, Beryl B, Birnbaum, Daniel, Daly, Mark J, MacArthur, Daniel G
Published in Nucleic acids research (04.01.2017)
Published in Nucleic acids research (04.01.2017)
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A quantitative framework for characterizing the evolutionary history of mammalian gene expression
Chen, Jenny, Swofford, Ross, Johnson, Jeremy, Cummings, Beryl B, Rogel, Noga, Lindblad-Toh, Kerstin, Haerty, Wilfried, Palma, Federica di, Regev, Aviv
Published in Genome research (01.01.2019)
Published in Genome research (01.01.2019)
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Genetic regulatory variation in populations informs transcriptome analysis in rare disease
Mohammadi, Pejman, Castel, Stephane E, Cummings, Beryl B, Einson, Jonah, Sousa, Christina, Hoffman, Paul, Donkervoort, Sandra, Jiang, Zhuoxun, Mohassel, Payam, Foley, A Reghan, Wheeler, Heather E, Im, Hae Kyung, Bonnemann, Carsten G, MacArthur, Daniel G, Lappalainen, Tuuli
Published in Science (American Association for the Advancement of Science) (18.10.2019)
Published in Science (American Association for the Advancement of Science) (18.10.2019)
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Relationship of Fat Mass Ratio, a Biomarker for Lipodystrophy, With Cardiometabolic Traits
Agrawal, Saaket, Luan, Jian'an, Cummings, Beryl B, Weiss, Ethan J, Wareham, Nick J, Khera, Amit V
Published in Diabetes (New York, N.Y.) (01.07.2024)
Published in Diabetes (New York, N.Y.) (01.07.2024)
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Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring–Opitz Syndrome
Carlston, Colleen M., O'Donnell‐Luria, Anne H., Underhill, Hunter R., Cummings, Beryl B., Weisburd, Ben, Minikel, Eric V., Birnbaum, Daniel P., Tvrdik, Tatiana, MacArthur, Daniel G., Mao, Rong
Published in Human mutation (01.05.2017)
Published in Human mutation (01.05.2017)
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Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant
Sandaradura, Sarah A., Bournazos, Adam, Mallawaarachchi, Amali, Cummings, Beryl B., Waddell, Leigh B., Jones, Kristi J., Troedson, Christopher, Sudarsanam, Annapurna, Nash, Benjamin M., Peters, Gregory B., Algar, Elizabeth M., MacArthur, Daniel G., North, Kathryn N., Brammah, Susan, Charlton, Amanda, Laing, Nigel G., Wilson, Meredith J., Davis, Mark R., Cooper, Sandra T.
Published in Human mutation (01.03.2018)
Published in Human mutation (01.03.2018)
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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy
Donkervoort, Sandra, Krause, Niklas, Dergai, Mykola, Yun, Pomi, Koliwer, Judith, Gorokhova, Svetlana, Geist Hauserman, Janelle, Cummings, Beryl B, Hu, Ying, Smith, Rosemarie, Uapinyoying, Prech, Ganesh, Vijay S, Ghosh, Partha S, Monaghan, Kristin G, Edassery, Seby L, Ferle, Pia E, Silverstein, Sarah, Chao, Katherine R, Snyder, Molly, Ellingwood, Sara, Bharucha‐Goebel, Diana, Iannaccone, Susan T, Dal Peraro, Matteo, Foley, A Reghan, Savas, Jeffrey N, Bolduc, Véronique, Fasshauer, Dirk, Bönnemann, Carsten G, Schwake, Michael
Published in EMBO molecular medicine (07.12.2021)
Published in EMBO molecular medicine (07.12.2021)
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Author Correction: Evaluating drug targets through human loss-of-function genetic variation
Minikel, Eric Vallabh, Karczewski, Konrad J., Martin, Hilary C., Cummings, Beryl B., Whiffin, Nicola, Rhodes, Daniel, Alföldi, Jessica, Trembath, Richard C., van Heel, David A., Daly, Mark J., Schreiber, Stuart L., MacArthur, Daniel G.
Published in Nature (London) (18.02.2021)
Published in Nature (London) (18.02.2021)
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Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders
Ullman, Julie C, Mellem, Kevin T, Xi, Yannan, Ramanan, Vyas, Merritt, Hanne, Choy, Rebeca, Gujral, Tarunmeet, Young, Lyndsay E A, Blake, Kerrigan, Tep, Samnang, Homburger, Julian R, O'Regan, Adam, Ganesh, Sandya, Wong, Perryn, Satterfield, Terrence F, Lin, Baiwei, Situ, Eva, Yu, Cecile, Espanol, Bryan, Sarwaikar, Richa, Fastman, Nathan, Tzitzilonis, Christos, Lee, Patrick, Reiton, Daniel, Morton, Vivian, Santiago, Pam, Won, Walter, Powers, Hannah, Cummings, Beryl B, Hoek, Maarten, Graham, Robert R, Chandriani, Sanjay J, Bainer, Russell, DePaoli-Roach, Anna A, Roach, Peter J, Hurley, Thomas D, Sun, Ramon C, Gentry, Matthew S, Sinz, Christopher, Dick, Ryan A, Noonberg, Sarah B, Beattie, David T, Morgans, Jr, David J, Green, Eric M
Published in Science translational medicine (17.01.2024)
Published in Science translational medicine (17.01.2024)
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Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy
Bryen, Samantha J, Oates, Emily C, Evesson, Frances J, Lu, Jessica K, Waddell, Leigh B, Joshi, Himanshu, Ryan, Monique M, Cummings, Beryl B, McLean, Catriona A, MacArthur, Daniel G, Kornberg, Andrew J, Cooper, Sandra T
Published in European journal of human genetics : EJHG (01.01.2021)
Published in European journal of human genetics : EJHG (01.01.2021)
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Author Correction: Transcript expression-aware annotation improves rare variant interpretation
Cummings, Beryl B., Karczewski, Konrad J., Kosmicki, Jack A., Seaby, Eleanor G., Watts, Nicholas A., Singer-Berk, Moriel, Mudge, Jonathan M., Karjalainen, Juha, Satterstrom, F. Kyle, O’Donnell-Luria, Anne H., Poterba, Timothy, Seed, Cotton, Solomonson, Matthew, Alföldi, Jessica, Daly, Mark J., MacArthur, Daniel G.
Published in Nature (London) (18.02.2021)
Published in Nature (London) (18.02.2021)
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The Genetic Landscape of Diamond-Blackfan Anemia
Ulirsch, Jacob C., Verboon, Jeffrey M., Kazerounian, Shideh, Guo, Michael H., Yuan, Daniel, Ludwig, Leif S., Handsaker, Robert E., Abdulhay, Nour J., Fiorini, Claudia, Genovese, Giulio, Lim, Elaine T., Cheng, Aaron, Cummings, Beryl B., Chao, Katherine R., Beggs, Alan H., Genetti, Casie A., Sieff, Colin A., Newburger, Peter E., Niewiadomska, Edyta, Matysiak, Michal, Vlachos, Adrianna, Lipton, Jeffrey M., Atsidaftos, Eva, Glader, Bertil, Narla, Anupama, Gleizes, Pierre-Emmanuel, O’Donohue, Marie-Françoise, Montel-Lehry, Nathalie, Amor, David J., McCarroll, Steven A., O’Donnell-Luria, Anne H., Gupta, Namrata, Gabriel, Stacey B., MacArthur, Daniel G., Lander, Eric S., Lek, Monkol, Da Costa, Lydie, Nathan, David G., Korostelev, Andrei A., Do, Ron, Sankaran, Vijay G., Gazda, Hanna T.
Published in American journal of human genetics (07.02.2019)
Published in American journal of human genetics (07.02.2019)
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Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child
Rius, Rocio, Riley, Lisa G., Guo, Yiran, Menezes, Minal, Compton, Alison G., Van Bergen, Nicole J., Gayevskiy, Velimir, Cowley, Mark J., Cummings, Beryl B., Adams, Louisa, Ellaway, Carolyn, Thorburn, David R., Hakonarson, Hakon, Christodoulou, John
Published in Molecular genetics and metabolism (01.01.2019)
Published in Molecular genetics and metabolism (01.01.2019)
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Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin
Riley, Lisa G, Waddell, Leigh B, Ghaoui, Roula, Evesson, Frances J, Cummings, Beryl B, Bryen, Samantha J, Joshi, Himanshu, Wang, Min-Xia, Brammah, Susan, Kritharides, Leonard, Corbett, Alastair, MacArthur, Daniel G, Cooper, Sandra T
Published in European journal of human genetics : EJHG (01.08.2019)
Published in European journal of human genetics : EJHG (01.08.2019)
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Corrigendum: Landscape of X chromosome inactivation across human tissues
Tukiainen, Taru, Villani, Alexandra-Chloé, Yen, Angela, Rivas, Manuel A, Marshall, Jamie L, Satija, Rahul, Aguirre, Matt, Gauthier, Laura, Fleharty, Mark, Kirby, Andrew, Cummings, Beryl B, Castel, Stephane E, Karczewski, Konrad J, Aguet, François, Byrnes, Andrea, Consortium, GTEx, Lappalainen, Tuuli, Regev, Aviv, Ardlie, Kristin G, Hacohen, Nir, MacArthur, Daniel G
Published in Nature (London) (08.03.2018)
Published in Nature (London) (08.03.2018)
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RNAseq analysis for the diagnosis of muscular dystrophy
Gonorazky, Hernan, Liang, Minggao, Cummings, Beryl, Lek, Monkol, Micallef, Johann, Hawkins, Cynthia, Basran, Raveen, Cohn, Ronald, Wilson, Michael D., MacArthur, Daniel, Marshall, Christian R., Ray, Peter N., Dowling, James J.
Published in Annals of clinical and translational neurology (01.01.2016)
Published in Annals of clinical and translational neurology (01.01.2016)
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A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies
Bolduc, Véronique, Foley, A Reghan, Solomon-Degefa, Herimela, Sarathy, Apurva, Donkervoort, Sandra, Hu, Ying, Chen, Grace S, Sizov, Katherine, Nalls, Matthew, Zhou, Haiyan, Aguti, Sara, Cummings, Beryl B, Lek, Monkol, Tukiainen, Taru, Marshall, Jamie L, Regev, Oded, Marek-Yagel, Dina, Sarkozy, Anna, Butterfield, Russell J, Jou, Cristina, Jimenez-Mallebrera, Cecilia, Li, Yan, Gartioux, Corine, Mamchaoui, Kamel, Allamand, Valérie, Gualandi, Francesca, Ferlini, Alessandra, Hanssen, Eric, Wilton, Steve D, Lamandé, Shireen R, MacArthur, Daniel G, Wagener, Raimund, Muntoni, Francesco, Bönnemann, Carsten G
Published in JCI insight (21.03.2019)
Published in JCI insight (21.03.2019)
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WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
Waddell, Leigh B, Bryen, Samantha J, Cummings, Beryl B, Bournazos, Adam, Evesson, Frances J, Joshi, Himanshu, Marshall, Jamie L, Tukiainen, Taru, Valkanas, Elise, Weisburd, Ben, Sadedin, Simon, Davis, Mark R, Faiz, Fathimath, Gooding, Rebecca, Sandaradura, Sarah A, O'Grady, Gina L, Tchan, Michel C, Mowat, David R, Oates, Emily C, Farrar, Michelle A, Sampaio, Hugo, Ma, Alan, Neas, Katherine, Wang, Min-Xia, Charlton, Amanda, Chan, Charles, Kenwright, Diane N, Graf, Nicole, Arbuckle, Susan, Clarke, Nigel F, MacArthur, Daniel G, Jones, Kristi J, Lek, Monkol, Cooper, Sandra T
Published in Neurology. Genetics (01.02.2021)
Published in Neurology. Genetics (01.02.2021)
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Landscape of X chromosome inactivation across human tissues
Tukiainen, Taru, Villani, Alexandra-Chloé, Yen, Angela, Rivas, Manuel A., Marshall, Jamie L., Satija, Rahul, Aguirre, Matt, Gauthier, Laura, Fleharty, Mark, Kirby, Andrew, Cummings, Beryl B., Castel, Stephane E., Karczewski, Konrad J., Aguet, François, Byrnes, Andrea, Lappalainen, Tuuli, Regev, Aviv, Ardlie, Kristin G., Hacohen, Nir, MacArthur, Daniel G.
Published in Nature (London) (12.10.2017)
Published in Nature (London) (12.10.2017)
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