Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.
Nature Genetics
Mullins, Niamh N; Forstner, Andreas J AJ; O'Connell, Kevin S KS; Coombes, Brandon B; Coleman, Jonathan R I JRI; Qiao, Zhen Z; Als, Thomas D TD; Bigdeli, Tim B TB; Børte, Sigrid S; Bryois, Julien J; Charney, Alexander W AW; Drange, Ole Kristian OK; Gandal, Michael J MJ; Hagenaars, Saskia P SP; Ikeda, Masashi M; Kamitaki, Nolan N; Kim, Minsoo M; Krebs, Kristi K; Panagiotaropoulou, Georgia G; Schilder, Brian M BM; Sloofman, Laura G LG; Steinberg, Stacy S; Trubetskoy, Vassily V; Winsvold, Bendik S BS; Won, Hong-Hee HH; Abramova, Liliya L; Adorjan, Kristina K; Agerbo, Esben E; Al Eissa, Mariam M; Albani, Diego D; Alliey-Rodriguez, Ney N; Anjorin, Adebayo A; Antilla, Verneri V; Antoniou, Anastasia A; Awasthi, Swapnil S; Baek, Ji Hyun JH; Bækvad-Hansen, Marie M; Bass, Nicholas N; Bauer, Michael M; Beins, Eva C EC; Bergen, Sarah E SE; Birner, Armin A; Bøcker Pedersen, Carsten C; Bøen, Erlend E; Boks, Marco P MP; Bosch, Rosa R; Brum, Murielle M; Brumpton, Ben M BM; Brunkhorst-Kanaan, Nathalie N; Budde, Monika M; Bybjerg-Grauholm, Jonas J; Byerley, William W; Cairns, Murray M; Casas, Miquel M; Cervantes, Pablo P; Clarke, Toni-Kim TK; Cruceanu, Cristiana C; Cuellar-Barboza, Alfredo A; Cunningham, Julie J; Curtis, David D; Czerski, Piotr M PM; Dale, Anders M AM; Dalkner, Nina N; David, Friederike S FS; Degenhardt, Franziska F; Djurovic, Srdjan S; Dobbyn, Amanda L AL; Douzenis, Athanassios A; Elvsåshagen, Torbjørn T; Escott-Price, Valentina V; Ferrier, I Nicol IN; Fiorentino, Alessia A; Foroud, Tatiana M TM; Forty, Liz L; Frank, Josef J; Frei, Oleksandr O; Freimer, Nelson B NB; Frisén, Louise L; Gade, Katrin K; Garnham, Julie J; Gelernter, Joel J; Giørtz Pedersen, Marianne M; Gizer, Ian R IR; Gordon, Scott D SD; Gordon-Smith, Katherine K; Greenwood, Tiffany A TA; Grove, Jakob J; Guzman-Parra, José J; Ha, Kyooseob K; Haraldsson, Magnus M; Hautzinger, Martin M; Heilbronner, Urs U; Hellgren, Dennis D; Herms, Stefan S; Hoffmann, Per P; Holmans, Peter A PA; Huckins, Laura L; Jamain, Stéphane S; Johnson, Jessica S JS; Kalman, Janos L JL; Kamatani, Yoichiro Y; Kennedy, James L JL; Kittel-Schneider, Sarah S; Knowles, James A JA; Kogevinas, Manolis M; Koromina, Maria M; Kranz, Thorsten M TM; Kranzler, Henry R HR; Kubo, Michiaki M; Kupka, Ralph R; Kushner, Steven A SA; Lavebratt, Catharina C; Lawrence, Jacob J; Leber, Markus M; Lee, Heon-Jeong HJ; Lee, Phil H PH; Levy, Shawn E SE; Lewis, Catrin C; Liao, Calwing C; Lucae, Susanne S; Lundberg, Martin M; MacIntyre, Donald J DJ; Magnusson, Sigurdur H SH; Maier, Wolfgang W; Maihofer, Adam A; Malaspina, Dolores D; Maratou, Eirini E; Martinsson, Lina L; Mattheisen, Manuel M; McCarroll, Steven A SA; McGregor, Nathaniel W NW; McGuffin, Peter P; McKay, James D JD; Medeiros, Helena H; Medland, Sarah E SE; Millischer, Vincent V; Montgomery, Grant W GW; Moran, Jennifer L JL; Morris, Derek W DW; Mühleisen, Thomas W TW; O'Brien, Niamh N; O'Donovan, Claire C; Olde Loohuis, Loes M LM; Oruc, Lilijana L; Papiol, Sergi S; Pardiñas, Antonio F AF; Perry, Amy A; Pfennig, Andrea A; Porichi, Evgenia E; Potash, James B JB; Quested, Digby D; Raj, Towfique T; Rapaport, Mark H MH; DePaulo, J Raymond JR; Regeer, Eline J EJ; Rice, John P JP; Rivas, Fabio F; Rivera, Margarita M; Roth, Julian J; Roussos, Panos P; Ruderfer, Douglas M DM; Sánchez-Mora, Cristina C; Schulte, Eva C EC; Senner, Fanny F; Sharp, Sally S; Shilling, Paul D PD; Sigurdsson, Engilbert E; Sirignano, Lea L; Slaney, Claire C; Smeland, Olav B OB; Smith, Daniel J DJ; Sobell, Janet L JL; Søholm Hansen, Christine C; Soler Artigas, Maria M; Spijker, Anne T AT; Stein, Dan J DJ; Strauss, John S JS; Świątkowska, Beata B; Terao, Chikashi C; Thorgeirsson, Thorgeir E TE; Toma, Claudio C; Tooney, Paul P; Tsermpini, Evangelia-Eirini EE; Vawter, Marquis P MP; Vedder, Helmut H; Walters, James T R JTR; Witt, Stephanie H SH; Xi, Simon S; Xu, Wei W; Yang, Jessica Mei Kay JMK; Young, Allan H AH; Young, Hannah H; Zandi, Peter P PP; Zhou, Hang H; Zillich, Lea L; , ; Adolfsson, Rolf R; Agartz, Ingrid I; Alda, Martin M; Alfredsson, Lars L; Babadjanova, Gulja G; Backlund, Lena L; Baune, Bernhard T BT; Bellivier, Frank F; Bengesser, Susanne S; Berrettini, Wade H WH; Blackwood, Douglas H R DHR; Boehnke, Michael M; Børglum, Anders D AD; Breen, Gerome G; Carr, Vaughan J VJ; Catts, Stanley S; Corvin, Aiden A; Craddock, Nicholas N; Dannlowski, Udo U; Dikeos, Dimitris D; Esko, Tõnu T; Etain, Bruno B; Ferentinos, Panagiotis P; Frye, Mark M; Fullerton, Janice M JM; Gawlik, Micha M; Gershon, Elliot S ES; Goes, Fernando S FS; Green, Melissa J MJ; Grigoroiu-Serbanescu, Maria M; Hauser, Joanna J; Henskens, Frans F; Hillert, Jan J; Hong, Kyung Sue KS; Hougaard, David M DM; Hultman, Christina M CM; Hveem, Kristian K; Iwata, Nakao N; Jablensky, Assen V AV; Jones, Ian I; Jones, Lisa A LA; Kahn, René S RS; Kelsoe, John R JR; Kirov, George G; Landén, Mikael M; Leboyer, Marion M; Lewis, Cathryn M CM; Li, Qingqin S QS; Lissowska, Jolanta J; Lochner, Christine C; Loughland, Carmel C; Martin, Nicholas G NG; Mathews, Carol A CA; Mayoral, Fermin F; McElroy, Susan L SL; McIntosh, Andrew M AM; McMahon, Francis J FJ; Melle, Ingrid I; Michie, Patricia P; Milani, Lili L; Mitchell, Philip B PB; Morken, Gunnar G; Mors, Ole O; Mortensen, Preben Bo PB; Mowry, Bryan B; Müller-Myhsok, Bertram B; Myers, Richard M RM; Neale, Benjamin M BM; Nievergelt, Caroline M CM; Nordentoft, Merete M; Nöthen, Markus M MM; O'Donovan, Michael C MC; Oedegaard, Ketil J KJ; Olsson, Tomas T; Owen, Michael J MJ; Paciga, Sara A SA; Pantelis, Chris C; Pato, Carlos C; Pato, Michele T MT; Patrinos, George P GP; Perlis, Roy H RH; Posthuma, Danielle D; Ramos-Quiroga, Josep Antoni JA; Reif, Andreas A; Reininghaus, Eva Z EZ; Ribasés, Marta M; Rietschel, Marcella M; Ripke, Stephan S; Rouleau, Guy A GA; Saito, Takeo T; Schall, Ulrich U; Schalling, Martin M; Schofield, Peter R PR; Schulze, Thomas G TG; Scott, Laura J LJ; Scott, Rodney J RJ; Serretti, Alessandro A; Shannon Weickert, Cynthia C; Smoller, Jordan W JW; Stefansson, Hreinn H; Stefansson, Kari K; Stordal, Eystein E; Streit, Fabian F; Sullivan, Patrick F PF; Turecki, Gustavo G; Vaaler, Arne E AE; Vieta, Eduard E; Vincent, John B JB; Waldman, Irwin D ID; Weickert, Thomas W TW; Werge, Thomas T; Wray, Naomi R NR; Zwart, John-Anker JA; Biernacka, Joanna M JM; Nurnberger, John I JI; Cichon, Sven S; Edenberg, Howard J HJ; Stahl, Eli A EA; McQuillin, Andrew A; Di Florio, Arianna A; Ophoff, Roel A RA; Andreassen, Ole A OA
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.
Nature Genetics
Mullins, Niamh N; Forstner, Andreas J AJ; O'Connell, Kevin S KS; Coombes, Brandon B; Coleman, Jonathan R I JRI; Qiao, Zhen Z; Als, Thomas D TD; Bigdeli, Tim B TB; Børte, Sigrid S; Bryois, Julien J; Charney, Alexander W AW; Drange, Ole Kristian OK; Gandal, Michael J MJ; Hagenaars, Saskia P SP; Ikeda, Masashi M; Kamitaki, Nolan N; Kim, Minsoo M; Krebs, Kristi K; Panagiotaropoulou, Georgia G; Schilder, Brian M BM; Sloofman, Laura G LG; Steinberg, Stacy S; Trubetskoy, Vassily V; Winsvold, Bendik S BS; Won, Hong-Hee HH; Abramova, Liliya L; Adorjan, Kristina K; Agerbo, Esben E; Al Eissa, Mariam M; Albani, Diego D; Alliey-Rodriguez, Ney N; Anjorin, Adebayo A; Antilla, Verneri V; Antoniou, Anastasia A; Awasthi, Swapnil S; Baek, Ji Hyun JH; Bækvad-Hansen, Marie M; Bass, Nicholas N; Bauer, Michael M; Beins, Eva C EC; Bergen, Sarah E SE; Birner, Armin A; Bøcker Pedersen, Carsten C; Bøen, Erlend E; Boks, Marco P MP; Bosch, Rosa R; Brum, Murielle M; Brumpton, Ben M BM; Brunkhorst-Kanaan, Nathalie N; Budde, Monika M; Bybjerg-Grauholm, Jonas J; Byerley, William W; Cairns, Murray M; Casas, Miquel M; Cervantes, Pablo P; Clarke, Toni-Kim TK; Cruceanu, Cristiana C; Cuellar-Barboza, Alfredo A; Cunningham, Julie J; Curtis, David D; Czerski, Piotr M PM; Dale, Anders M AM; Dalkner, Nina N; David, Friederike S FS; Degenhardt, Franziska F; Djurovic, Srdjan S; Dobbyn, Amanda L AL; Douzenis, Athanassios A; Elvsåshagen, Torbjørn T; Escott-Price, Valentina V; Ferrier, I Nicol IN; Fiorentino, Alessia A; Foroud, Tatiana M TM; Forty, Liz L; Frank, Josef J; Frei, Oleksandr O; Freimer, Nelson B NB; Frisén, Louise L; Gade, Katrin K; Garnham, Julie J; Gelernter, Joel J; Giørtz Pedersen, Marianne M; Gizer, Ian R IR; Gordon, Scott D SD; Gordon-Smith, Katherine K; Greenwood, Tiffany A TA; Grove, Jakob J; Guzman-Parra, José J; Ha, Kyooseob K; Haraldsson, Magnus M; Hautzinger, Martin M; Heilbronner, Urs U; Hellgren, Dennis D; Herms, Stefan S; Hoffmann, Per P; Holmans, Peter A PA; Huckins, Laura L; Jamain, Stéphane S; Johnson, Jessica S JS; Kalman, Janos L JL; Kamatani, Yoichiro Y; Kennedy, James L JL; Kittel-Schneider, Sarah S; Knowles, James A JA; Kogevinas, Manolis M; Koromina, Maria M; Kranz, Thorsten M TM; Kranzler, Henry R HR; Kubo, Michiaki M; Kupka, Ralph R; Kushner, Steven A SA; Lavebratt, Catharina C; Lawrence, Jacob J; Leber, Markus M; Lee, Heon-Jeong HJ; Lee, Phil H PH; Levy, Shawn E SE; Lewis, Catrin C; Liao, Calwing C; Lucae, Susanne S; Lundberg, Martin M; MacIntyre, Donald J DJ; Magnusson, Sigurdur H SH; Maier, Wolfgang W; Maihofer, Adam A; Malaspina, Dolores D; Maratou, Eirini E; Martinsson, Lina L; Mattheisen, Manuel M; McCarroll, Steven A SA; McGregor, Nathaniel W NW; McGuffin, Peter P; McKay, James D JD; Medeiros, Helena H; Medland, Sarah E SE; Millischer, Vincent V; Montgomery, Grant W GW; Moran, Jennifer L JL; Morris, Derek W DW; Mühleisen, Thomas W TW; O'Brien, Niamh N; O'Donovan, Claire C; Olde Loohuis, Loes M LM; Oruc, Lilijana L; Papiol, Sergi S; Pardiñas, Antonio F AF; Perry, Amy A; Pfennig, Andrea A; Porichi, Evgenia E; Potash, James B JB; Quested, Digby D; Raj, Towfique T; Rapaport, Mark H MH; DePaulo, J Raymond JR; Regeer, Eline J EJ; Rice, John P JP; Rivas, Fabio F; Rivera, Margarita M; Roth, Julian J; Roussos, Panos P; Ruderfer, Douglas M DM; Sánchez-Mora, Cristina C; Schulte, Eva C EC; Senner, Fanny F; Sharp, Sally S; Shilling, Paul D PD; Sigurdsson, Engilbert E; Sirignano, Lea L; Slaney, Claire C; Smeland, Olav B OB; Smith, Daniel J DJ; Sobell, Janet L JL; Søholm Hansen, Christine C; Soler Artigas, Maria M; Spijker, Anne T AT; Stein, Dan J DJ; Strauss, John S JS; Świątkowska, Beata B; Terao, Chikashi C; Thorgeirsson, Thorgeir E TE; Toma, Claudio C; Tooney, Paul P; Tsermpini, Evangelia-Eirini EE; Vawter, Marquis P MP; Vedder, Helmut H; Walters, James T R JTR; Witt, Stephanie H SH; Xi, Simon S; Xu, Wei W; Yang, Jessica Mei Kay JMK; Young, Allan H AH; Young, Hannah H; Zandi, Peter P PP; Zhou, Hang H; Zillich, Lea L; , ; Adolfsson, Rolf R; Agartz, Ingrid I; Alda, Martin M; Alfredsson, Lars L; Babadjanova, Gulja G; Backlund, Lena L; Baune, Bernhard T BT; Bellivier, Frank F; Bengesser, Susanne S; Berrettini, Wade H WH; Blackwood, Douglas H R DHR; Boehnke, Michael M; Børglum, Anders D AD; Breen, Gerome G; Carr, Vaughan J VJ; Catts, Stanley S; Corvin, Aiden A; Craddock, Nicholas N; Dannlowski, Udo U; Dikeos, Dimitris D; Esko, Tõnu T; Etain, Bruno B; Ferentinos, Panagiotis P; Frye, Mark M; Fullerton, Janice M JM; Gawlik, Micha M; Gershon, Elliot S ES; Goes, Fernando S FS; Green, Melissa J MJ; Grigoroiu-Serbanescu, Maria M; Hauser, Joanna J; Henskens, Frans F; Hillert, Jan J; Hong, Kyung Sue KS; Hougaard, David M DM; Hultman, Christina M CM; Hveem, Kristian K; Iwata, Nakao N; Jablensky, Assen V AV; Jones, Ian I; Jones, Lisa A LA; Kahn, René S RS; Kelsoe, John R JR; Kirov, George G; Landén, Mikael M; Leboyer, Marion M; Lewis, Cathryn M CM; Li, Qingqin S QS; Lissowska, Jolanta J; Lochner, Christine C; Loughland, Carmel C; Martin, Nicholas G NG; Mathews, Carol A CA; Mayoral, Fermin F; McElroy, Susan L SL; McIntosh, Andrew M AM; McMahon, Francis J FJ; Melle, Ingrid I; Michie, Patricia P; Milani, Lili L; Mitchell, Philip B PB; Morken, Gunnar G; Mors, Ole O; Mortensen, Preben Bo PB; Mowry, Bryan B; Müller-Myhsok, Bertram B; Myers, Richard M RM; Neale, Benjamin M BM; Nievergelt, Caroline M CM; Nordentoft, Merete M; Nöthen, Markus M MM; O'Donovan, Michael C MC; Oedegaard, Ketil J KJ; Olsson, Tomas T; Owen, Michael J MJ; Paciga, Sara A SA; Pantelis, Chris C; Pato, Carlos C; Pato, Michele T MT; Patrinos, George P GP; Perlis, Roy H RH; Posthuma, Danielle D; Ramos-Quiroga, Josep Antoni JA; Reif, Andreas A; Reininghaus, Eva Z EZ; Ribasés, Marta M; Rietschel, Marcella M; Ripke, Stephan S; Rouleau, Guy A GA; Saito, Takeo T; Schall, Ulrich U; Schalling, Martin M; Schofield, Peter R PR; Schulze, Thomas G TG; Scott, Laura J LJ; Scott, Rodney J RJ; Serretti, Alessandro A; Shannon Weickert, Cynthia C; Smoller, Jordan W JW; Stefansson, Hreinn H; Stefansson, Kari K; Stordal, Eystein E; Streit, Fabian F; Sullivan, Patrick F PF; Turecki, Gustavo G; Vaaler, Arne E AE; Vieta, Eduard E; Vincent, John B JB; Waldman, Irwin D ID; Weickert, Thomas W TW; Werge, Thomas T; Wray, Naomi R NR; Zwart, John-Anker JA; Biernacka, Joanna M JM; Nurnberger, John I JI; Cichon, Sven S; Edenberg, Howard J HJ; Stahl, Eli A EA; McQuillin, Andrew A; Di Florio, Arianna A; Ophoff, Roel A RA; Andreassen, Ole A OA
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: PLEC: L3538L; rs6992333
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.
Scientific Reports
Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I
Publication Date: 2016-07-26
Variant appearance in text: PLEC: L3538L; rs6992333
Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.
Cell Reports
Fumagalli, Debora D; Gacquer, David D; Rothé, Françoise F; Lefort, Anne A; Libert, Frederick F; Brown, David D; Kheddoumi, Naima N; Shlien, Adam A; Konopka, Tomasz T; Salgado, Roberto R; Larsimont, Denis D; Polyak, Kornelia K; Willard-Gallo, Karen K; Desmedt, Christine C; Piccart, Martine M; Abramowicz, Marc M; Campbell, Peter J PJ; Sotiriou, Christos C; Detours, Vincent V
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: PLEC: L3538L; rs6992333
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M