MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants

por Gosalia, Nehal, Economides, Aris N., Dewey, Frederick E., Balasubramanian, Suganthi
Publicado 2017

CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data

por Packer, Jonathan S., Maxwell, Evan K., O’Dushlaine, Colm, Lopez, Alexander E., Dewey, Frederick E., Chernomorsky, Rostislav, Baras, Aris, Overton, John D., Habegger, Lukas, Reid, Jeffrey G.
Publicado 2016

Rare variants in drug target genes contributing to complex diseases, phenome-wide

por Verma, Shefali Setia, Josyula, Navya, Verma, Anurag, Zhang, Xinyuan, Veturi, Yogasudha, Dewey, Frederick E., Hartzel, Dustin N., Lavage, Daniel R., Leader, Joe, Ritchie, Marylyn D., Pendergrass, Sarah A.
Publicado 2018

Author Correction: Rare variants in drug target genes contributing to complex diseases, phenome-wide

por Verma, Shefali Setia, Josyula, Navya, Verma, Anurag, Zhang, Xinyuan, Veturi, Yogasudha, Dewey, Frederick E., Hartzel, Dustin N., Lavage, Daniel R., Leader, Joe, Ritchie, Marylyn D., Pendergrass, Sarah A.
Publicado 2018

Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data

por Dewey, Frederick E., Grove, Megan E., Priest, James R., Waggott, Daryl, Batra, Prag, Miller, Clint L., Wheeler, Matthew, Zia, Amin, Pan, Cuiping, Karzcewski, Konrad J., Miyake, Christina, Whirl-Carrillo, Michelle, Klein, Teri E., Datta, Somalee, Altman, Russ B., Snyder, Michael, Quertermous, Thomas, Ashley, Euan A.
Publicado 2015

Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

por Zhu, Na, Welch, Carrie L., Wang, Jiayao, Allen, Philip M., Gonzaga-Jauregui, Claudia, Ma, Lijiang, King, Alejandra K., Krishnan, Usha, Rosenzweig, Erika B., Ivy, D. Dunbar, Austin, Eric D., Hamid, Rizwan, Pauciulo, Michael W., Lutz, Katie A., Nichols, William C., Reid, Jeffrey G., Overton, John D., Baras, Aris, Dewey, Frederick E., Shen, Yufeng, Chung, Wendy K.
Publicado 2018

Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease

por Peloso, Gina M., Nomura, Akihiro, Khera, Amit V., Chaffin, Mark, Won, Hong-Hee, Ardissino, Diego, Danesh, John, Schunkert, Heribert, Wilson, James G., Samani, Nilesh, Erdmann, Jeanette, McPherson, Ruth, Watkins, Hugh, Saleheen, Danish, McCarthy, Shane, Teslovich, Tanya M., Leader, Joseph B., Lester Kirchner, H., Marrugat, Jaume, Nohara, Atsushi, Kawashiri, Masa-aki, Tada, Hayato, Dewey, Frederick E., Carey, David J., Baras, Aris, Kathiresan, Sekar
Publicado 2019

Electronic Health Record Phenotype in Subjects with Genetic Variants Associated with Arrhythmogenic Right Ventricular Cardiomyopathy: A Study in 30,716 Subjects with Exome Sequenci...

por Haggerty, Christopher M., James, Cynthia A., Calkins, Hugh, Tichnell, Crystal, Leader, Joseph B., Hartzel, Dustin N., Nevius, Christopher D., Pendergrass, Sarah A., Person, Thomas N., Schwartz, Marci, Ritchie, Marylyn D., Carey, David J., Ledbetter, David H., Williams, Marc S., Dewey, Frederick E., Lopez, Alexander, Penn, John, Overton, John D., Reid, Jeffrey G., Lebo, Matthew, Mason-Suares, Heather, Austin-Tse, Christina, Rehm, Heidi L., Delisle, Brian P., Makowski, Daniel J., Mehra, Vishal C., Murray, Michael F., Fornwalt, Brandon K.
Publicado 2017

Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence

por Dewey, Frederick E., Chen, Rong, Cordero, Sergio P., Ormond, Kelly E., Caleshu, Colleen, Karczewski, Konrad J., Whirl-Carrillo, Michelle, Wheeler, Matthew T., Dudley, Joel T., Byrnes, Jake K., Cornejo, Omar E., Knowles, Joshua W., Woon, Mark, Sangkuhl, Katrin, Gong, Li, Thorn, Caroline F., Hebert, Joan M., Capriotti, Emidio, David, Sean P., Pavlovic, Aleksandra, West, Anne, Thakuria, Joseph V., Ball, Madeleine P., Zaranek, Alexander W., Rehm, Heidi L., Church, George M., West, John S., Bustamante, Carlos D., Snyder, Michael, Altman, Russ B., Klein, Teri E., Butte, Atul J., Ashley, Euan A.
Publicado 2011

Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

por Buchanan, Adam H, Manickam, Kandamurugu, Meyer, Michelle N, Wagner, Jennifer K, Hallquist, Miranda L G, Williams, Janet L, Rahm, Alanna Kulchak, Williams, Marc S, Chen, Zong-Ming E, Shah, Chaitali K, Garg, Tullika K, Lazzeri, Amanda L, Schwartz, Marci L B, Lindbuchler, D'Andra M, Fan, Audrey L, Leeming, Rosemary, Servano, Pedro O, Smith, Ashlee L, Vogel, Victor G, Abul-Husn, Noura S, Dewey, Frederick E, Lebo, Matthew S, Mason-Suares, Heather M, Ritchie, Marylyn D, Davis, F Daniel, Carey, David J, Feinberg, David T, Faucett, W Andrew, Ledbetter, David H, Murray, Michael F
Publicado 2017

Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

por Buchanan, Adam H., Manickam, Kandamurugu, Meyer, Michelle N., Wagner, Jennifer K., Hallquist, Miranda L. G., Williams, Janet L., Rahm, Alanna Kulchak, Williams, Marc S., Chen, Zong-Ming E., Shah, Chaitali K., Garg, Tullika K., Lazzeri, Amanda L., Schwartz, Marci L. B., Lindbuchler, D’ Andra M., Fan, Audrey L., Leeming, Rosemary, Servano, Pedro O., Smith, Ashlee L., Vogel, Victor G., Abul-Husn, Noura S., Dewey, Frederick E., Lebo, Matthew S., Mason-Suares, Heather M., Ritchie, Marylyn D., Davis, F. Daniel, Carey, David J., Feinberg, David T., Faucett, W. Andrew, Ledbetter, David H., Murray, Michael F.
Publicado 2021

Genetics of Blood Lipids Among ~300,000 Multi-Ethnic Participants of the Million Veteran Program

por Klarin, Derek, Damrauer, Scott M., Cho, Kelly, Sun, Yan V., Teslovich, Tanya M., Honerlaw, Jacqueline, Gagnon, David R, DuVall, Scott L., Li, Jin, Peloso, Gina M., Chaffin, Mark, Small, Aeron M., Huang, Jie, Tang, Hua, Lynch, Julie A., Ho, Yuk-Lam, Liu, Dajiang J., Emdin, Connor A., Li, Alexander H., Huffman, Jennifer E., Lee, Jennifer S., Natarajan, Pradeep, Chowdhury, Rajiv, Saleheen, Danish, Vujkovic, Marijana, Baras, Aris, Pyarajan, Saiju, Angelantonio, Emanuele Di, Neale, Benjamin M., Naheed, Aliya, Khera, Amit V., Danesh, John, Chang, Kyong-Mi, Abecasis, Gonçalo, Willer, Cristen, Dewey, Frederick E., Carey, David J., Concato, John, Gaziano, J. Michael, O’Donnell, Christopher J., Tsao, Philip S., Kathiresan, Sekar, Rader, Daniel J., Wilson, Peter W.F., Assimes, Themistocles L.
Publicado 2018

Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

por Manickam, Kandamurugu, Buchanan, Adam H., Schwartz, Marci L. B., Hallquist, Miranda L. G., Williams, Janet L., Rahm, Alanna Kulchak, Rocha, Heather, Savatt, Juliann M., Evans, Alyson E., Butry, Loren M., Lazzeri, Amanda L., Lindbuchler, D’Andra M., Flansburg, Carroll N., Leeming, Rosemary, Vogel, Victor G., Lebo, Matthew S., Mason-Suares, Heather M., Hoskinson, Derick C., Abul-Husn, Noura S., Dewey, Frederick E., Overton, John D., Reid, Jeffrey G., Baras, Aris, Willard, Huntington F., McCormick, Cara Z., Krishnamurthy, Sarath B., Hartzel, Dustin N., Kost, Korey A., Lavage, Daniel R., Sturm, Amy C., Frisbie, Lauren R., Person, T. Nate, Metpally, Raghu P., Giovanni, Monica A., Lowry, Lacy E., Leader, Joseph B., Ritchie, Marylyn D., Carey, David J., Justice, Anne E., Kirchner, H. Lester, Faucett, W. Andrew, Williams, Marc S., Ledbetter, David H., Murray, Michael F.
Publicado 2018

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes

por Gusarova, Viktoria, O’Dushlaine, Colm, Teslovich, Tanya M., Benotti, Peter N., Mirshahi, Tooraj, Gottesman, Omri, Van Hout, Cristopher V., Murray, Michael F., Mahajan, Anubha, Nielsen, Jonas B., Fritsche, Lars, Wulff, Anders Berg, Gudbjartsson, Daniel F., Sjögren, Marketa, Emdin, Connor A., Scott, Robert A., Lee, Wen-Jane, Small, Aeron, Kwee, Lydia C., Dwivedi, Om Prakash, Prasad, Rashmi B., Bruse, Shannon, Lopez, Alexander E., Penn, John, Marcketta, Anthony, Leader, Joseph B., Still, Christopher D., Kirchner, H. Lester, Mirshahi, Uyenlinh L., Wardeh, Amr H., Hartle, Cassandra M., Habegger, Lukas, Fetterolf, Samantha N., Tusie-Luna, Teresa, Morris, Andrew P., Holm, Hilma, Steinthorsdottir, Valgerdur, Sulem, Patrick, Thorsteinsdottir, Unnur, Rotter, Jerome I., Chuang, Lee-Ming, Damrauer, Scott, Birtwell, David, Brummett, Chad M., Khera, Amit V., Natarajan, Pradeep, Orho-Melander, Marju, Flannick, Jason, Lotta, Luca A., Willer, Cristen J., Holmen, Oddgeir L., Ritchie, Marylyn D., Ledbetter, David H., Murphy, Andrew J., Borecki, Ingrid B., Reid, Jeffrey G., Overton, John D., Hansson, Ola, Groop, Leif, Shah, Svati H., Kraus, William E., Rader, Daniel J., Chen, Yii-Der I., Hveem, Kristian, Wareham, Nicholas J., Kathiresan, Sekar, Melander, Olle, Stefansson, Kari, Nordestgaard, Børge G., Tybjærg-Hansen, Anne, Abecasis, Goncalo R., Altshuler, David, Florez, Jose C., Boehnke, Michael, McCarthy, Mark I., Yancopoulos, George D., Carey, David J., Shuldiner, Alan R., Baras, Aris, Dewey, Frederick E., Gromada, Jesper
Publicado 2018

Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets

por Wain, Louise V, Shrine, Nick, Soler Artigas, María, Erzurumluoglu, A Mesut, Noyvert, Boris, Bossini-Castillo, Lara, Obeidat, Ma’en, Henry, Amanda P, Portelli, Michael A, Hall, Robert J, Billington, Charlotte K, Rimington, Tracy L, Fenech, Anthony G, John, Catherine, Blake, Tineka, Jackson, Victoria E, Allen, Richard J, Prins, Bram P, Campbell, Archie, Porteous, David J, Jarvelin, Marjo-Riitta, Wielscher, Matthias, James, Alan L, Hui, Jennie, Wareham, Nicholas J, Zhao, Jing Hua, Wilson, James F, Joshi, Peter K, Stubbe, Beate, Rawal, Rajesh, Schulz, Holger, Imboden, Medea, Probst-Hensch, Nicole M, Karrasch, Stefan, Gieger, Christian, Deary, Ian J, Harris, Sarah E, Marten, Jonathan, Rudan, Igor, Enroth, Stefan, Gyllensten, Ulf, Kerr, Shona M, Polasek, Ozren, Kähönen, Mika, Surakka, Ida, Vitart, Veronique, Hayward, Caroline, Lehtimäki, Terho, Raitakari, Olli T, Evans, David M, Henderson, A John, Pennell, Craig E, Wang, Carol A, Sly, Peter D, Wan, Emily S, Busch, Robert, Hobbs, Brian D, Litonjua, Augusto A, Sparrow, David W, Gulsvik, Amund, Bakke, Per S, Crapo, James D, Beaty, Terri H, Hansel, Nadia N, Mathias, Rasika A, Ruczinski, Ingo, Barnes, Kathleen C, Bossé, Yohan, Joubert, Philippe, van den Berge, Maarten, Brandsma, Corry-Anke, Paré, Peter D, Sin, Don D, Nickle, David C, Hao, Ke, Gottesman, Omri, Dewey, Frederick E, Bruse, Shannon E, Carey, David J, Kirchner, H Lester, Jonsson, Stefan, Thorleifsson, Gudmar, Jonsdottir, Ingileif, Gislason, Thorarinn, Stefansson, Kari, Schurmann, Claudia, Nadkarni, Girish, Bottinger, Erwin P, Loos, Ruth JF, Walters, Robin G, Chen, Zhengming, Millwood, Iona Y, Vaucher, Julien, Kurmi, Om P, Li, Liming, Hansell, Anna L, Brightling, Chris, Zeggini, Eleftheria, Cho, Michael H, Silverman, Edwin K, Sayers, Ian, Trynka, Gosia, Morris, Andrew P, Strachan, David P, Hall, Ian P, Tobin, Martin D
Publicado 2017

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

por Flannick, Jason, Mercader, Josep M., Fuchsberger, Christian, Udler, Miriam S., Mahajan, Anubha, Wessel, Jennifer, Teslovich, Tanya M., Caulkins, Lizz, Koesterer, Ryan, Barajas-Olmos, Francisco, Blackwell, Thomas W., Boerwinkle, Eric, Brody, Jennifer A., Centeno-Cruz, Federico, Chen, Ling, Chen, Siying, Contreras-Cubas, Cecilia, Córdova, Emilio, Correa, Adolfo, Cortes, Maria, DeFronzo, Ralph A., Dolan, Lawrence, Drews, Kimberly L., Elliott, Amanda, Floyd, James S., Gabriel, Stacey, Garay-Sevilla, Maria Eugenia, García-Ortiz, Humberto, Gross, Myron, Han, Sohee, Heard-Costa, Nancy L., Jackson, Anne U., Jørgensen, Marit E., Kang, Hyun Min, Kelsey, Megan, Kim, Bong-Jo, Koistinen, Heikki A., Kuusisto, Johanna, Leader, Joseph B., Linneberg, Allan, Liu, Ching-Ti, Liu, Jianjun, Lyssenko, Valeriya, Manning, Alisa K., Marcketta, Anthony, Malacara-Hernandez, Juan Manuel, Martínez-Hernández, Angélica, Matsuo, Karen, Mayer-Davis, Elizabeth, Mendoza-Caamal, Elvia, Mohlke, Karen L., Morrison, Alanna C., Ndungu, Anne, Ng, Maggie C. Y., O’Dushlaine, Colm, Payne, Anthony J., Pihoker, Catherine, Post, Wendy S., Preuss, Michael, Psaty, Bruce M., Vasan, Ramachandran S., Rayner, N. William, Reiner, Alexander P., Revilla-Monsalve, Cristina, Robertson, Neil R., Santoro, Nicola, Schurmann, Claudia, So, Wing Yee, Soberón, Xavier, Stringham, Heather M., Strom, Tim M., Tam, Claudia H. T., Thameem, Farook, Tomlinson, Brian, Torres, Jason M., Tracy, Russell P., van Dam, Rob M., Vujkovic, Marijana, Wang, Shuai, Welch, Ryan P., Witte, Daniel R., Wong, Tien-Yin, Atzmon, Gil, Barzilai, Nir, Blangero, John, Bonnycastle, Lori L., Bowden, Donald W., Chambers, John C., Chan, Edmund, Cheng, Ching-Yu, Cho, Yoon Shin, Collins, Francis S., de Vries, Paul S., Duggirala, Ravindranath, Glaser, Benjamin, Gonzalez, Clicerio, Gonzalez, Ma Elena, Groop, Leif, Kooner, Jaspal Singh, Kwak, Soo Heon, Laakso, Markku, Lehman, Donna M., Nilsson, Peter, Spector, Timothy D., Tai, E. Shyong, Tuomi, Tiinamaija, Tuomilehto, Jaakko, Wilson, James G., Aguilar-Salinas, Carlos A., Bottinger, Erwin, Burke, Brian, Carey, David J., Chan, Juliana C. N., Dupuis, Josée, Frossard, Philippe, Heckbert, Susan R., Hwang, Mi Yeong, Kim, Young Jin, Kirchner, H. Lester, Lee, Jong-Young, Lee, Juyoung, Loos, Ruth J. F., Ma, Ronald C. W., Morris, Andrew D., O’Donnell, Christopher J., Palmer, Colin N. A., Pankow, James, Park, Kyong Soo, Rasheed, Asif, Saleheen, Danish, Sim, Xueling, Small, Kerrin S., Teo, Yik Ying, Haiman, Christopher, Hanis, Craig L., Henderson, Brian E., Orozco, Lorena, Tusié-Luna, Teresa, Dewey, Frederick E., Baras, Aris, Gieger, Christian, Meitinger, Thomas, Strauch, Konstantin, Lange, Leslie, Grarup, Niels, Hansen, Torben, Pedersen, Oluf, Zeitler, Philip, Dabelea, Dana, Abecasis, Goncalo, Bell, Graeme I., Cox, Nancy J., Seielstad, Mark, Sladek, Rob, Meigs, James B., Rich, Steve S., Rotter, Jerome I., Altshuler, David, Burtt, Noël P., Scott, Laura J., Morris, Andrew P., Florez, Jose C., McCarthy, Mark I., Boehnke, Michael
Publicado 2019