Whole genome association studies in complex diseases: where do we stand?

por Need, Anna C., Goldstein, David B.
Publicado 2010

Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation

por Need, Anna C., Goldstein, David B.
Publicado 2016

A genome-wide genetic signature of Jewish ancestry perfectly separates individuals with and without full Jewish ancestry in a large random sample of European Americans

por Need, Anna C, Kasperavičiūtė, Dalia, Cirulli, Elizabeth T, Goldstein, David B
Publicado 2009

Clinical application of exome sequencing in undiagnosed genetic conditions

por Need, Anna C, Shashi, Vandana, Hitomi, Yuki, Schoch, Kelly, Shianna, Kevin V, McDonald, Marie T, Meisler, Miriam H, Goldstein, David B
Publicado 2012

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

por Shashi, Vandana, Schoch, Kelly, Spillmann, Rebecca, Cope, Heidi, Tan, Queenie K.-G., Walley, Nicole, Pena, Loren, McConkie-Rosell, Allyn, Jiang, Yong-Hui, Stong, Nicholas, Need, Anna C., Goldstein, David B.
Publicado 2018

SVA: software for annotating and visualizing sequenced human genomes

por Ge, Dongliang, Ruzzo, Elizabeth K., Shianna, Kevin V., He, Min, Pelak, Kimberly, Heinzen, Erin L., Need, Anna C., Cirulli, Elizabeth T., Maia, Jessica M., Dickson, Samuel P., Zhu, Mingfu, Singh, Abanish, Allen, Andrew S., Goldstein, David B.
Publicado 2011

Control of Axonal Growth and Regeneration of Sensory Neurons by the p110δ PI 3-Kinase

por Eickholt, Britta J., Ahmed, Aminul I., Davies, Meirion, Papakonstanti, Evangelia A., Pearce, Wayne, Starkey, Michelle L., Bilancio, Antonio, Need, Anna C., Smith, Andrew J. H., Hall, Susan M., Hamers, Frank P., Giese, Karl P., Bradbury, Elizabeth J., Vanhaesebroeck, Bart
Publicado 2007

A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci

por Pillai, Sreekumar G., Ge, Dongliang, Zhu, Guohua, Kong, Xiangyang, Shianna, Kevin V., Need, Anna C., Feng, Sheng, Hersh, Craig P., Bakke, Per, Gulsvik, Amund, Ruppert, Andreas, Lødrup Carlsen, Karin C., Roses, Allen, Anderson, Wayne, Rennard, Stephen I., Lomas, David A., Silverman, Edwin K., Goldstein, David B.
Publicado 2009

Copy Number Variation of KIR Genes Influences HIV-1 Control

por Pelak, Kimberly, Need, Anna C., Fellay, Jacques, Shianna, Kevin V., Feng, Sheng, Urban, Thomas J., Ge, Dongliang, De Luca, Andrea, Martinez-Picado, Javier, Wolinsky, Steven M., Martinson, Jeremy J., Jamieson, Beth D., Bream, Jay H., Martin, Maureen P., Borrow, Persephone, Letvin, Norman L., McMichael, Andrew J., Haynes, Barton F., Telenti, Amalio, Carrington, Mary, Goldstein, David B., Alter, Galit
Publicado 2011

Correction: Copy Number Variation of KIR Genes Influences HIV-1 Control

por Pelak, Kimberly, Need, Anna C., Fellay, Jacques, Shianna, Kevin V., Feng, Sheng, Urban, Thomas J., Ge, Dongliang, De Luca, Andrea, Martinez-Picado, Javier, Wolinsky, Steven M., Martinson, Jeremy J., Jamieson, Beth D., Bream, Jay H., Martin, Maureen P., Borrow, Persephone, Letvin, Norman L., McMichael, Andrew J., Haynes, Barton F., Telenti, Amalio, Carrington, Mary, Goldstein, David B., Alter, Galit
Publicado 2011

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

por Zhu, Xiaolin, Petrovski, Slavé, Xie, Pingxing, Ruzzo, Elizabeth K., Lu, Yi-Fan, McSweeney, K. Melodi, Ben-Zeev, Bruria, Nissenkorn, Andreea, Anikster, Yair, Oz-Levi, Danit, Dhindsa, Ryan S., Hitomi, Yuki, Schoch, Kelly, Spillmann, Rebecca C., Heimer, Gali, Marek-Yagel, Dina, Tzadok, Michal, Han, Yujun, Worley, Gordon, Goldstein, Jennifer, Jiang, Yong-Hui, Lancet, Doron, Pras, Elon, Shashi, Vandana, McHale, Duncan, Need, Anna C., Goldstein, David B.
Publicado 2015

The Characterization of Twenty Sequenced Human Genomes

por Pelak, Kimberly, Shianna, Kevin V., Ge, Dongliang, Maia, Jessica M., Zhu, Mingfu, Smith, Jason P., Cirulli, Elizabeth T., Fellay, Jacques, Dickson, Samuel P., Gumbs, Curtis E., Heinzen, Erin L., Need, Anna C., Ruzzo, Elizabeth K., Singh, Abanish, Campbell, C. Ryan, Hong, Linda K., Lornsen, Katharina A., McKenzie, Alexander M., Sobreira, Nara L. M., Hoover-Fong, Julie E., Milner, Joshua D., Ottman, Ruth, Haynes, Barton F., Goedert, James J., Goldstein, David B.
Publicado 2010

A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia

por Need, Anna C., Ge, Dongliang, Weale, Michael E., Maia, Jessica, Feng, Sheng, Heinzen, Erin L., Shianna, Kevin V., Yoon, Woohyun, Kasperavičiūtė, Dalia, Gennarelli, Massimo, Strittmatter, Warren J., Bonvicini, Cristian, Rossi, Giuseppe, Jayathilake, Karu, Cola, Philip A., McEvoy, Joseph P., Keefe, Richard S. E., Fisher, Elizabeth M. C., St. Jean, Pamela L., Giegling, Ina, Hartmann, Annette M., Möller, Hans-Jürgen, Ruppert, Andreas, Fraser, Gillian, Crombie, Caroline, Middleton, Lefkos T., St. Clair, David, Roses, Allen D., Muglia, Pierandrea, Francks, Clyde, Rujescu, Dan, Meltzer, Herbert Y., Goldstein, David B.
Publicado 2009

Correction: A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia

por Need, Anna C., Ge, Dongliang, Weale, Michael E., Maia, Jessica, Feng, Sheng, Heinzen, Erin L., Shianna, Kevin V., Yoon, Woohyun, Kasperavičiūtė, Dalia, Gennarelli, Massimo, Strittmatter, Warren J., Bonvicini, Cristian, Rossi, Giuseppe, Jayathilake, Karu, Cola, Philip A., McEvoy, Joseph P., Keefe, Richard S. E., Fisher, Elizabeth M. C., St. Jean, Pamela L., Giegling, Ina, Hartmann, Annette M., Möller, Hans-Jürgen, Ruppert, Andreas, Fraser, Gillian, Crombie, Caroline, Middleton, Lefkos T., St. Clair, David, Roses, Allen D., Muglia, Pierandrea, Francks, Clyde, Rujescu, Dan, Meltzer, Herbert Y., Goldstein, David B.
Publicado 2009

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

Identifying nootropic drug targets via large-scale cognitive GWAS and transcriptomics

por Lam, Max, Chen, Chia-Yen, Ge, Tian, Xia, Yan, Hill, David W., Trampush, Joey W., Yu, Jin, Knowles, Emma, Davies, Gail, Stahl, Eli A., Huckins, Laura, Liewald, David C., Djurovic, Srdjan, Melle, Ingrid, Christoforou, Andrea, Reinvang, Ivar, DeRosse, Pamela, Lundervold, Astri J., Steen, Vidar M., Espeseth, Thomas, Räikkönen, Katri, Widen, Elisabeth, Palotie, Aarno, Eriksson, Johan G., Giegling, Ina, Konte, Bettina, Hartmann, Annette M., Roussos, Panos, Giakoumaki, Stella, Burdick, Katherine E., Payton, Antony, Ollier, William, Chiba-Falek, Ornit, Koltai, Deborah C., Need, Anna C., Cirulli, Elizabeth T., Voineskos, Aristotle N., Stefanis, Nikos C., Avramopoulos, Dimitrios, Hatzimanolis, Alex, Smyrnis, Nikolaos, Bilder, Robert M., Freimer, Nelson B., Cannon, Tyrone D., London, Edythe, Poldrack, Russell A., Sabb, Fred W., Congdon, Eliza, Conley, Emily Drabant, Scult, Matthew A., Dickinson, Dwight, Straub, Richard E., Donohoe, Gary, Morris, Derek, Corvin, Aiden, Gill, Michael, Hariri, Ahmad R., Weinberger, Daniel R., Pendleton, Neil, Bitsios, Panos, Rujescu, Dan, Lahti, Jari, Le Hellard, Stephanie, Keller, Matthew C., Andreassen, Ole A., Deary, Ian J., Glahn, David C., Huang, Hailiang, Liu, Chunyu, Malhotra, Anil K., Lencz, Todd
Publicado 2021

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

por Schon, Katherine R, Horvath, Rita, Wei, Wei, Calabrese, Claudia, Tucci, Arianna, Ibañez, Kristina, Ratnaike, Thiloka, Pitceathly, Robert D S, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Clement, Emma, Ashton, Emma, Sayer, John A, Brennan, Paul, Josifova, Dragana, Izatt, Louise, Fratter, Carl, Nesbitt, Victoria, Barrett, Timothy, McMullen, Dominic J, Smith, Audrey, Deshpande, Charulata, Smithson, Sarah F, Festenstein, Richard, Canham, Natalie, Caulfield, Mark, Houlden, Henry, Rahman(, Shamima, Chinnery, Patrick F, Ambrose, John C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R, Brittain, Helen, Caulfield, Mark J, Chan, Georgia C, Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J P, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E A, Leong, Ivonne U S, Lopez, Javier F, Maleady-Crowe, Fiona, McEntegart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Buonerimo Pereira, Mariana, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R A, Thompson, Simon R, Tucci, Arianna, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M
Publicado 2021

Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function

por Davies, Gail, Lam, Max, Harris, Sarah E., Trampush, Joey W., Luciano, Michelle, Hill, W. David, Hagenaars, Saskia P., Ritchie, Stuart J., Marioni, Riccardo E., Fawns-Ritchie, Chloe, Liewald, David C. M., Okely, Judith A., Ahola-Olli, Ari V., Barnes, Catriona L. K., Bertram, Lars, Bis, Joshua C., Burdick, Katherine E., Christoforou, Andrea, DeRosse, Pamela, Djurovic, Srdjan, Espeseth, Thomas, Giakoumaki, Stella, Giddaluru, Sudheer, Gustavson, Daniel E., Hayward, Caroline, Hofer, Edith, Ikram, M. Arfan, Karlsson, Robert, Knowles, Emma, Lahti, Jari, Leber, Markus, Li, Shuo, Mather, Karen A., Melle, Ingrid, Morris, Derek, Oldmeadow, Christopher, Palviainen, Teemu, Payton, Antony, Pazoki, Raha, Petrovic, Katja, Reynolds, Chandra A., Sargurupremraj, Muralidharan, Scholz, Markus, Smith, Jennifer A., Smith, Albert V., Terzikhan, Natalie, Thalamuthu, Anbupalam, Trompet, Stella, van der Lee, Sven J., Ware, Erin B., Windham, B. Gwen, Wright, Margaret J., Yang, Jingyun, Yu, Jin, Ames, David, Amin, Najaf, Amouyel, Philippe, Andreassen, Ole A., Armstrong, Nicola J., Assareh, Amelia A., Attia, John R., Attix, Deborah, Avramopoulos, Dimitrios, Bennett, David A., Böhmer, Anne C., Boyle, Patricia A., Brodaty, Henry, Campbell, Harry, Cannon, Tyrone D., Cirulli, Elizabeth T., Congdon, Eliza, Conley, Emily Drabant, Corley, Janie, Cox, Simon R., Dale, Anders M., Dehghan, Abbas, Dick, Danielle, Dickinson, Dwight, Eriksson, Johan G., Evangelou, Evangelos, Faul, Jessica D., Ford, Ian, Freimer, Nelson A., Gao, He, Giegling, Ina, Gillespie, Nathan A., Gordon, Scott D., Gottesman, Rebecca F., Griswold, Michael E., Gudnason, Vilmundur, Harris, Tamara B., Hartmann, Annette M., Hatzimanolis, Alex, Heiss, Gerardo, Holliday, Elizabeth G., Joshi, Peter K., Kähönen, Mika, Kardia, Sharon L. R., Karlsson, Ida, Kleineidam, Luca, Knopman, David S., Kochan, Nicole A., Konte, Bettina, Kwok, John B., Le Hellard, Stephanie, Lee, Teresa, Lehtimäki, Terho, Li, Shu-Chen, Lill, Christina M., Liu, Tian, Koini, Marisa, London, Edythe, Longstreth, Will T., Lopez, Oscar L., Loukola, Anu, Luck, Tobias, Lundervold, Astri J., Lundquist, Anders, Lyytikäinen, Leo-Pekka, Martin, Nicholas G., Montgomery, Grant W., Murray, Alison D., Need, Anna C., Noordam, Raymond, Nyberg, Lars, Ollier, William, Papenberg, Goran, Pattie, Alison, Polasek, Ozren, Poldrack, Russell A., Psaty, Bruce M., Reppermund, Simone, Riedel-Heller, Steffi G., Rose, Richard J., Rotter, Jerome I., Roussos, Panos, Rovio, Suvi P., Saba, Yasaman, Sabb, Fred W., Sachdev, Perminder S., Satizabal, Claudia L., Schmid, Matthias, Scott, Rodney J., Scult, Matthew A., Simino, Jeannette, Slagboom, P. Eline, Smyrnis, Nikolaos, Soumaré, Aïcha, Stefanis, Nikos C., Stott, David J., Straub, Richard E., Sundet, Kjetil, Taylor, Adele M., Taylor, Kent D., Tzoulaki, Ioanna, Tzourio, Christophe, Uitterlinden, André, Vitart, Veronique, Voineskos, Aristotle N., Kaprio, Jaakko, Wagner, Michael, Wagner, Holger, Weinhold, Leonie, Wen, K. Hoyan, Widen, Elisabeth, Yang, Qiong, Zhao, Wei, Adams, Hieab H. H., Arking, Dan E., Bilder, Robert M., Bitsios, Panos, Boerwinkle, Eric, Chiba-Falek, Ornit, Corvin, Aiden, De Jager, Philip L., Debette, Stéphanie, Donohoe, Gary, Elliott, Paul, Fitzpatrick, Annette L., Gill, Michael, Glahn, David C., Hägg, Sara, Hansell, Narelle K., Hariri, Ahmad R., Ikram, M. Kamran, Jukema, J. Wouter, Vuoksimaa, Eero, Keller, Matthew C., Kremen, William S., Launer, Lenore, Lindenberger, Ulman, Palotie, Aarno, Pedersen, Nancy L., Pendleton, Neil, Porteous, David J., Räikkönen, Katri, Raitakari, Olli T., Ramirez, Alfredo, Reinvang, Ivar, Rudan, Igor, Dan Rujescu, Schmidt, Reinhold, Schmidt, Helena, Schofield, Peter W., Schofield, Peter R., Starr, John M., Steen, Vidar M., Trollor, Julian N., Turner, Steven T., Van Duijn, Cornelia M., Villringer, Arno, Weinberger, Daniel R., Weir, David R., Wilson, James F., Malhotra, Anil, McIntosh, Andrew M., Gale, Catharine R., Seshadri, Sudha, Mosley, Thomas H., Bressler, Jan, Lencz, Todd, Deary, Ian J.
Publicado 2018

Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function

por Davies, Gail, Lam, Max, Harris, Sarah E., Trampush, Joey W., Luciano, Michelle, Hill, W. David, Hagenaars, Saskia P., Ritchie, Stuart J., Marioni, Riccardo E., Fawns-Ritchie, Chloe, Liewald, David C. M., Okely, Judith A., Ahola-Olli, Ari V., Barnes, Catriona L. K., Bertram, Lars, Bis, Joshua C., Burdick, Katherine E., Christoforou, Andrea, DeRosse, Pamela, Djurovic, Srdjan, Espeseth, Thomas, Giakoumaki, Stella, Giddaluru, Sudheer, Gustavson, Daniel E., Hayward, Caroline, Hofer, Edith, Ikram, M. Arfan, Karlsson, Robert, Knowles, Emma, Lahti, Jari, Leber, Markus, Li, Shuo, Mather, Karen A., Melle, Ingrid, Morris, Derek, Oldmeadow, Christopher, Palviainen, Teemu, Payton, Antony, Pazoki, Raha, Petrovic, Katja, Reynolds, Chandra A., Sargurupremraj, Muralidharan, Scholz, Markus, Smith, Jennifer A., Smith, Albert V., Terzikhan, Natalie, Thalamuthu, Anbupalam, Trompet, Stella, van der Lee, Sven J., Ware, Erin B., Windham, B. Gwen, Wright, Margaret J., Yang, Jingyun, Yu, Jin, Ames, David, Amin, Najaf, Amouyel, Philippe, Andreassen, Ole A., Armstrong, Nicola J., Assareh, Amelia A., Attia, John R., Attix, Deborah, Avramopoulos, Dimitrios, Bennett, David A., Böhmer, Anne C., Boyle, Patricia A., Brodaty, Henry, Campbell, Harry, Cannon, Tyrone D., Cirulli, Elizabeth T., Congdon, Eliza, Conley, Emily Drabant, Corley, Janie, Cox, Simon R., Dale, Anders M., Dehghan, Abbas, Dick, Danielle, Dickinson, Dwight, Eriksson, Johan G., Evangelou, Evangelos, Faul, Jessica D., Ford, Ian, Freimer, Nelson A., Gao, He, Giegling, Ina, Gillespie, Nathan A., Gordon, Scott D., Gottesman, Rebecca F., Griswold, Michael E., Gudnason, Vilmundur, Harris, Tamara B., Hartmann, Annette M., Hatzimanolis, Alex, Heiss, Gerardo, Holliday, Elizabeth G., Joshi, Peter K., Kähönen, Mika, Kardia, Sharon L. R., Karlsson, Ida, Kleineidam, Luca, Knopman, David S., Kochan, Nicole A., Konte, Bettina, Kwok, John B., Le Hellard, Stephanie, Lee, Teresa, Lehtimäki, Terho, Li, Shu-Chen, Lill, Christina M., Liu, Tian, Koini, Marisa, London, Edythe, Longstreth, Will T., Lopez, Oscar L., Loukola, Anu, Luck, Tobias, Lundervold, Astri J., Lundquist, Anders, Lyytikäinen, Leo-Pekka, Martin, Nicholas G., Montgomery, Grant W., Murray, Alison D., Need, Anna C., Noordam, Raymond, Nyberg, Lars, Ollier, William, Papenberg, Goran, Pattie, Alison, Polasek, Ozren, Poldrack, Russell A., Psaty, Bruce M., Reppermund, Simone, Riedel-Heller, Steffi G., Rose, Richard J., Rotter, Jerome I., Roussos, Panos, Rovio, Suvi P., Saba, Yasaman, Sabb, Fred W., Sachdev, Perminder S., Satizabal, Claudia L., Schmid, Matthias, Scott, Rodney J., Scult, Matthew A., Simino, Jeannette, Slagboom, P. Eline, Smyrnis, Nikolaos, Soumaré, Aïcha, Stefanis, Nikos C., Stott, David J., Straub, Richard E., Sundet, Kjetil, Taylor, Adele M., Taylor, Kent D., Tzoulaki, Ioanna, Tzourio, Christophe, Uitterlinden, André, Vitart, Veronique, Voineskos, Aristotle N., Kaprio, Jaakko, Wagner, Michael, Wagner, Holger, Weinhold, Leonie, Wen, K. Hoyan, Widen, Elisabeth, Yang, Qiong, Zhao, Wei, Adams, Hieab H. H., Arking, Dan E., Bilder, Robert M., Bitsios, Panos, Boerwinkle, Eric, Chiba-Falek, Ornit, Corvin, Aiden, De Jager, Philip L., Debette, Stéphanie, Donohoe, Gary, Elliott, Paul, Fitzpatrick, Annette L., Gill, Michael, Glahn, David C., Hägg, Sara, Hansell, Narelle K., Hariri, Ahmad R., Ikram, M. Kamran, Jukema, J. Wouter, Vuoksimaa, Eero, Keller, Matthew C., Kremen, William S., Launer, Lenore, Lindenberger, Ulman, Palotie, Aarno, Pedersen, Nancy L., Pendleton, Neil, Porteous, David J., Räikkönen, Katri, Raitakari, Olli T., Ramirez, Alfredo, Reinvang, Ivar, Rudan, Igor, Dan Rujescu, Schmidt, Reinhold, Schmidt, Helena, Schofield, Peter W., Schofield, Peter R., Starr, John M., Steen, Vidar M., Trollor, Julian N., Turner, Steven T., Van Duijn, Cornelia M., Villringer, Arno, Weinberger, Daniel R., Weir, David R., Wilson, James F., Malhotra, Anil, McIntosh, Andrew M., Gale, Catharine R., Seshadri, Sudha, Mosley, Thomas H., Bressler, Jan, Lencz, Todd, Deary, Ian J.
Publicado 2019