ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy
Villar‐Quiles, Rocío N., Catervi, Fabio, Cabet, Eva, Juntas‐Morales, Raul, Genetti, Casie A., Gidaro, Teresa, Koparir, Asuman, Yüksel, Adnan, Coppens, Sandra, Deconinck, Nicolas, Pierce‐Hoffman, Emma, Lornage, Xavière, Durigneux, Julien, Laporte, Jocelyn, Rendu, John, Romero, Norma B., Beggs, Alan H., Servais, Laurent, Cossée, Mireille, Olivé, Montse, Böhm, Johann, Duband‐Goulet, Isabelle, Ferreiro, Ana
Published in Annals of neurology (01.02.2020)
Published in Annals of neurology (01.02.2020)
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The mutational constraint spectrum quantified from variation in 141,456 humans
Karczewski, Konrad J., Francioli, Laurent C., Tiao, Grace, Cummings, Beryl B., Alföldi, Jessica, Wang, Qingbo, Collins, Ryan L., Laricchia, Kristen M., Ganna, Andrea, Birnbaum, Daniel P., Gauthier, Laura D., Brand, Harrison, Solomonson, Matthew, Watts, Nicholas A., Rhodes, Daniel, Singer-Berk, Moriel, England, Eleina M., Seaby, Eleanor G., Kosmicki, Jack A., Walters, Raymond K., Tashman, Katherine, Farjoun, Yossi, Banks, Eric, Poterba, Timothy, Wang, Arcturus, Seed, Cotton, Whiffin, Nicola, Chong, Jessica X., Samocha, Kaitlin E., Pierce-Hoffman, Emma, Zappala, Zachary, O’Donnell-Luria, Anne H., Minikel, Eric Vallabh, Weisburd, Ben, Lek, Monkol, Ware, James S., Vittal, Christopher, Armean, Irina M., Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Llanwarne, Christopher, Munshi, Ruchi, Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Schleicher, Molly, Soto, Jose, Tibbetts, Kathleen, Tolonen, Charlotte, Wade, Gordon, Talkowski, Michael E., Neale, Benjamin M., Daly, Mark J., MacArthur, Daniel G.
Published in Nature (London) (01.05.2020)
Published in Nature (London) (01.05.2020)
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Analysis of protein-coding genetic variation in 60,706 humans
Lek, Monkol, Karczewski, Konrad J., Minikel, Eric V., Samocha, Kaitlin E., Banks, Eric, Fennell, Timothy, O’Donnell-Luria, Anne H., Ware, James S., Hill, Andrew J., Cummings, Beryl B., Tukiainen, Taru, Birnbaum, Daniel P., Kosmicki, Jack A., Duncan, Laramie E., Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David N., Deflaux, Nicole, DePristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja I., Moonshine, Ami Levy, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina M., Poplin, Ryan, Rivas, Manuel A., Ruano-Rubio, Valentin, Rose, Samuel A., Ruderfer, Douglas M., Shakir, Khalid, Stenson, Peter D., Stevens, Christine, Thomas, Brett P., Tiao, Grace, Tusie-Luna, Maria T., Weisburd, Ben, Won, Hong-Hee, Yu, Dongmei, Altshuler, David M., Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua, Roberto, Florez, Jose C., Gabriel, Stacey B., Getz, Gad, Glatt, Stephen J., Hultman, Christina M., Kathiresan, Sekar, Laakso, Markku, McCarroll, Steven, McCarthy, Mark I., McGovern, Dermot, McPherson, Ruth, Neale, Benjamin M., Palotie, Aarno, Purcell, Shaun M., Saleheen, Danish, Scharf, Jeremiah M., Sklar, Pamela, Sullivan, Patrick F., Tuomilehto, Jaakko, Tsuang, Ming T., Watkins, Hugh C., Wilson, James G., Daly, Mark J., MacArthur, Daniel G.
Published in Nature (London) (18.08.2016)
Published in Nature (London) (18.08.2016)
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Community and Housing First: A qualitative analysis of USA residents' perspectives
Adame, Alexandra L., Perry, Christopher, Pierce, Emma
Published in Health & social care in the community (01.07.2020)
Published in Health & social care in the community (01.07.2020)
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Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Wang, Qingbo, Pierce-Hoffman, Emma, Cummings, Beryl B., Alföldi, Jessica, Francioli, Laurent C., Gauthier, Laura D., Hill, Andrew J., O’Donnell-Luria, Anne H., Karczewski, Konrad J., MacArthur, Daniel G.
Published in Nature communications (27.05.2020)
Published in Nature communications (27.05.2020)
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De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
Weng, Patricia L., Majmundar, Amar J., Khan, Kamal, Lim, Tze Y., Shril, Shirlee, Jin, Gina, Musgrove, John, Wang, Minxian, Ahram, Dina F., Aggarwal, Vimla S., Bier, Louise E., Heinzen, Erin L., Onuchic-Whitford, Ana C., Mann, Nina, Buerger, Florian, Schneider, Ronen, Deutsch, Konstantin, Kitzler, Thomas M., Klämbt, Verena, Kolb, Amy, Mao, Youying, Moufawad El Achkar, Christelle, Mitrotti, Adele, Martino, Jeremiah, Beck, Bodo B., Altmüller, Janine, Benz, Marcus R., Yano, Shoji, Mikati, Mohamad A., Gunduz, Talha, Cope, Heidi, Shashi, Vandana, Trachtman, Howard, Bodria, Monica, Caridi, Gianluca, Pisani, Isabella, Fiaccadori, Enrico, AbuMaziad, Asmaa S., Martinez-Agosto, Julian A., Yadin, Ora, Zuckerman, Jonathan, Kim, Arang, John-Kroegel, Ulrike, Tyndall, Amanda V., Parboosingh, Jillian S., Innes, A. Micheil, Bierzynska, Agnieszka, Koziell, Ania B., Muorah, Mordi, Saleem, Moin A., Hoefele, Julia, Riedhammer, Korbinian M., Gharavi, Ali G., Jobanputra, Vaidehi, Pierce-Hoffman, Emma, Seaby, Eleanor G., O’Donnell-Luria, Anne, Rehm, Heidi L., Mane, Shrikant, D’Agati, Vivette D., Pollak, Martin R., Ghiggeri, Gian Marco, Lifton, Richard P., Goldstein, David B., Davis, Erica E., Hildebrandt, Friedhelm, Sanna-Cherchi, Simone
Published in American journal of human genetics (04.02.2021)
Published in American journal of human genetics (04.02.2021)
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10 Lessons Learned in Launching a Division-Wide Measurement-Based Care Initiative
Kaplan, Courtney, Cho, Emma, Russo, Jillian, Naclerio, Maria, Tirpak, Julianne Wilner, Lee, Eileen, Au, Josephine S, Salisbury, Angela, Dickstein, Daniel P
Published in Journal of the American Academy of Child and Adolescent Psychiatry (01.12.2023)
Published in Journal of the American Academy of Child and Adolescent Psychiatry (01.12.2023)
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Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
Gudmundsson, Sanna, Karczewski, Konrad J., Francioli, Laurent C., Tiao, Grace, Cummings, Beryl B., Alföldi, Jessica, Wang, Qingbo, Collins, Ryan L., Laricchia, Kristen M., Ganna, Andrea, Birnbaum, Daniel P., Gauthier, Laura D., Brand, Harrison, Solomonson, Matthew, Watts, Nicholas A., Rhodes, Daniel, Singer-Berk, Moriel, England, Eleina M., Seaby, Eleanor G., Kosmicki, Jack A., Walters, Raymond K., Tashman, Katherine, Farjoun, Yossi, Banks, Eric, Poterba, Timothy, Wang, Arcturus, Seed, Cotton, Whiffin, Nicola, Chong, Jessica X., Samocha, Kaitlin E., Pierce-Hoffman, Emma, Zappala, Zachary, O’Donnell-Luria, Anne H., Minikel, Eric Vallabh, Weisburd, Ben, Lek, Monkol, Ware, James S., Vittal, Christopher, Armean, Irina M., Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Llanwarne, Christopher, Munshi, Ruchi, Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Schleicher, Molly, Soto, Jose, Tibbetts, Kathleen, Tolonen, Charlotte, Wade, Gordon, Talkowski, Michael E., Neale, Benjamin M., Daly, Mark J., MacArthur, Daniel G.
Published in Nature (London) (02.09.2021)
Published in Nature (London) (02.09.2021)
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Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Wang, Qingbo, Pierce-Hoffman, Emma, Cummings, Beryl B., Alföldi, Jessica, Francioli, Laurent C., Gauthier, Laura D., Hill, Andrew J., O’Donnell-Luria, Anne H., Karczewski, Konrad J., MacArthur, Daniel G.
Published in Nature communications (02.02.2021)
Published in Nature communications (02.02.2021)
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Improving wrist imaging through a multicentre educational intervention: The challenge of orthogonal projections
Snaith, Beverly, Raine, Scott, Fowler, Lynsey, Osborne, Christopher, House, Sophie, Holmes, Ryan, Tattersall, Emma, Pierce, Emma, Dobson, Melanie, Harcus, James W
Published in Hand therapy (01.09.2020)
Published in Hand therapy (01.09.2020)
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Analysis of protein-coding genetic variation in 60,706 humans
Consortium, Exome Aggregation, Lek, Monkol, Karczewski, Konrad, Minikel, Eric, Samocha, Kaitlin, Banks, Eric, Fennell, Timothy, O'donnell-Luria, Anne, Ware, James, Hill, Andrew, Cummings, Beryl, Tukiainen, Taru, Birnbaum, Daniel, Kosmicki, Jack, Duncan, Laramie, Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David, Deflaux, Nicole, Depristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja, Ami Levy Moonshine, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina, Poplin, Ryan, Rivas, Manuel, Ruano-Rubio, Valentin, Rose, Samuel, Ruderfer, Douglas, Shakir, Khalid, Stenson, Peter, Stevens, Christine, Thomas, Brett, Tiao, Grace, Tusie-Luna, Maria, Weisburd, Ben, Hong-Hee, Won, Yu, Dongmei, Altshuler, David, Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua Roberto, Florez, Jose, Gabriel, Stacey, Getz, Gad, Glatt, Stephen, Hultman, Christina, Sekar Kathiresan, Laakso, Markku, Mccarroll, Steven, Mccarthy, Mark, Mcgovern, Dermot, Mcpherson, Ruth, Neale, Benjamin, Palotie, Aarno, Purcell, Shaun, Saleheen, Danish, Scharf, Jeremiah, Sklar, Pamela, Sullivan, Patrick, Tuomilehto, Jaakko, Tsuang, Ming, Watkins, Hugh, Wilson, James, Daly, Mark, Macarthur, Daniel
Published in bioRxiv (10.05.2016)
Published in bioRxiv (10.05.2016)
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Genome‐Wide Analysis of Structural Variants in Parkinson Disease
Billingsley, Kimberley J., Ding, Jinhui, Jerez, Pilar Alvarez, Illarionova, Anastasia, Levine, Kristin, Grenn, Francis P., Makarious, Mary B., Moore, Anni, Vitale, Daniel, Reed, Xylena, Hernandez, Dena, Torkamani, Ali, Ryten, Mina, Hardy, John, Chia, Ruth, Scholz, Sonja W., Traynor, Bryan J., Dalgard, Clifton L., Ehrlich, Debra J., Tanaka, Toshiko, Ferrucci, Luigi, Beach, Thomas G., Serrano, Geidy E., Quinn, John P., Bubb, Vivien J., Collins, Ryan L, Zhao, Xuefang, Walker, Mark, Pierce‐Hoffman, Emma, Brand, Harrison, Talkowski, Michael E., Casey, Bradford, Cookson, Mark R, Markham, Androo, Nalls, Mike A., Mahmoud, Medhat, Sedlazeck, Fritz J, Blauwendraat, Cornelis, Gibbs, J. Raphael, Singleton, Andrew B.
Published in Annals of neurology (01.05.2023)
Published in Annals of neurology (01.05.2023)
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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.
Published in American journal of human genetics (07.09.2023)
Published in American journal of human genetics (07.09.2023)
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Genome-wide analysis of Structural Variants in Parkinson’s Disease
Billingsley, Kimberley J., Ding, Jinhui, Jerez, Pilar Alvarez, Illarionova, Anastasia, Levine, Kristin, Grenn, Francis P., Makarious, Mary B., Moore, Anni, Vitale, Daniel, Reed, Xylena, Hernandez, Dena, Torkamani, Ali, Ryten, Mina, Hardy, John, Chia, Ruth, Scholz, Sonja W., Traynor, Bryan J., Dalgard, Clifton L., Ehrlich, Debra J., Tanaka, Toshiko, Ferrucci, Luigi, Beach, Thomas.G., Serrano, Geidy E., Quinn, John P., Bubb, Vivien J., Collins, Ryan L, Zhao, Xuefang, Walker, Mark, Pierce-Hoffman, Emma, Brand, Harrison, Talkowski, Michael E., Casey, Bradford, Cookson, Mark R, Markham, Androo, Nalls, Mike A., Mahmoud, Medhat, Sedlazeck, Fritz J, Blauwendraat, Cornelis, Gibbs, J. Raphael, Singleton, Andrew B.
Published in Annals of neurology (03.02.2023)
Published in Annals of neurology (03.02.2023)
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ASC1 is a cell cycle regulator associated with severe and mild forms of myopathy
Villar-Quiles, Rocío N, Catervi, Fabio, Cabet, Eva, Juntas-Morales, Raul, Genetti, Casie A., Gidaro, Teresa, Koparir, Asuman, Yüksel, Adnan, Coppens, Sandra, Deconinck, Nicolas, Pierce-Hoffman, Emma, Lornage, Xavière, Durigneux, Julien, Laporte, Jocelyn, Rendu, John, Romero, Norma B., Beggs, Alan H., Servais, Laurent, Cossée, Mireille, Olivé, Montse, Böhm, Johann, Duband-Goulet, Isabelle, Ferreiro, Ana
Published in Annals of neurology (27.12.2019)
Published in Annals of neurology (27.12.2019)
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