Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease
Dewey, Frederick E, Gusarova, Viktoria, O’Dushlaine, Colm, Gottesman, Omri, Trejos, Jesus, Hunt, Charleen, Van Hout, Cristopher V, Habegger, Lukas, Buckler, David, Lai, Ka-Man V, Leader, Joseph B, Murray, Michael F, Ritchie, Marylyn D, Kirchner, H. Lester, Ledbetter, David H, Penn, John, Lopez, Alexander, Borecki, Ingrid B, Overton, John D, Reid, Jeffrey G, Carey, David J, Murphy, Andrew J, Yancopoulos, George D, Baras, Aris, Gromada, Jesper, Shuldiner, Alan R
Published in The New England journal of medicine (24.03.2016)
Published in The New England journal of medicine (24.03.2016)
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U-PASS: unified power analysis and forensics for qualitative traits in genetic association studies
Gao, Zheng, Terhorst, Jonathan, Van Hout, Cristopher V, Stoev, Stilian
Published in Bioinformatics (01.02.2020)
Published in Bioinformatics (01.02.2020)
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Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease
Horowitz, Julie E., Warner, Neil, Staples, Jeffrey, Crowley, Eileen, Gosalia, Nehal, Murchie, Ryan, Van Hout, Cristopher, Fiedler, Karoline, Welch, Gabriel, King, Alejandra Klauer, Reid, Jeffrey G., Overton, John D., Baras, Aris, Shuldiner, Alan R., Griffiths, Anne, Gottesman, Omri, Muise, Aleixo M., Gonzaga-Jauregui, Claudia
Published in Scientific reports (10.03.2021)
Published in Scientific reports (10.03.2021)
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Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians
Kerr, Shona M, Cowan, Emma, Klaric, Lucija, Bell, Christine, O'Sullivan, Dawn, Buchanan, David, Grzymski, Joseph J, van Hout, Cristopher V, Tzoneva, Gannie, Shuldiner, Alan R, Wilson, James F, Miedzybrodzka, Zosia
Published in European journal of human genetics : EJHG (01.05.2023)
Published in European journal of human genetics : EJHG (01.05.2023)
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Assessment of the potential role of natural selection in type 2 diabetes and related traits across human continental ancestry groups: comparison of phenotypic with genotypic divergence
Hanson, Robert L., Van Hout, Cristopher V., Hsueh, Wen-Chi, Shuldiner, Alan R., Kobes, Sayuko, Sinha, Madhumita, Baier, Leslie J., Knowler, William C.
Published in Diabetologia (01.12.2020)
Published in Diabetologia (01.12.2020)
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Using Mendelian inheritance to improve high-throughput SNP discovery
Chen, Nancy, Van Hout, Cristopher V, Gottipati, Srikanth, Clark, Andrew G
Published in Genetics (Austin) (01.11.2014)
Published in Genetics (Austin) (01.11.2014)
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Exome sequencing and characterization of 49,960 individuals in the UK Biobank
Van Hout, Cristopher V., Tachmazidou, Ioanna, Backman, Joshua D., Hoffman, Joshua D., Liu, Daren, Pandey, Ashutosh K., Gonzaga-Jauregui, Claudia, Khalid, Shareef, Ye, Bin, Banerjee, Nilanjana, Li, Alexander H., O’Dushlaine, Colm, Marcketta, Anthony, Staples, Jeffrey, Schurmann, Claudia, Hawes, Alicia, Maxwell, Evan, Barnard, Leland, Lopez, Alexander, Penn, John, Habegger, Lukas, Blumenfeld, Andrew L., Bai, Xiaodong, O’Keeffe, Sean, Yadav, Ashish, Praveen, Kavita, Jones, Marcus, Salerno, William J., Chung, Wendy K., Surakka, Ida, Willer, Cristen J., Hveem, Kristian, Leader, Joseph B., Carey, David J., Ledbetter, David H., Cardon, Lon, Yancopoulos, George D., Economides, Aris, Coppola, Giovanni, Shuldiner, Alan R., Balasubramanian, Suganthi, Cantor, Michael, Nelson, Matthew R., Whittaker, John, Reid, Jeffrey G., Marchini, Jonathan, Overton, John D., Scott, Robert A., Abecasis, Gonçalo R., Yerges-Armstrong, Laura, Baras, Aris
Published in Nature (London) (29.10.2020)
Published in Nature (London) (29.10.2020)
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Genome-wide survey of parent-of-origin-specific associations across clinical traits derived from electronic health records
Kim, Hye In, Ye, Bin, Staples, Jeffrey, Marcketta, Anthony, Gao, Chuan, Shuldiner, Alan R., Van Hout, Cristopher V.
Published in HGG advances (08.07.2021)
Published in HGG advances (08.07.2021)
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Identification and functional validation of rare coding variants in genes linked to monogenic obesity
Köroğlu, Çiğdem, Traurig, Michael, Muller, Yunhua L., Day, Samantha E., Piaggi, Paolo, Wiedrich, Kim, Vazquez, Laura, Hanson, Robert L., Van Hout, Cristopher V., Alkelai, Anna, Shuldiner, Alan R., Bogardus, Clifton, Baier, Leslie J.
Published in Obesity (Silver Spring, Md.) (01.09.2024)
Published in Obesity (Silver Spring, Md.) (01.09.2024)
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Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes
Staples, Jeffrey, Maxwell, Evan K., Gosalia, Nehal, Gonzaga-Jauregui, Claudia, Snyder, Christopher, Hawes, Alicia, Penn, John, Ulloa, Ricardo, Bai, Xiaodong, Lopez, Alexander E., Van Hout, Cristopher V., O’Dushlaine, Colm, Teslovich, Tanya M., McCarthy, Shane E., Balasubramanian, Suganthi, Kirchner, H. Lester, Leader, Joseph B., Murray, Michael F., Ledbetter, David H., Shuldiner, Alan R., Yancoupolos, George D., Dewey, Frederick E., Carey, David J., Overton, John D., Baras, Aris, Habegger, Lukas, Reid, Jeffrey G.
Published in American journal of human genetics (03.05.2018)
Published in American journal of human genetics (03.05.2018)
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Journal Article
Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US
Kim, Hye In, Ye, Bin, Gosalia, Nehal, Köroğlu, Çiğdem, Hanson, Robert L., Hsueh, Wen-Chi, Knowler, William C., Baier, Leslie J., Bogardus, Clifton, Shuldiner, Alan R., Van Hout, Cristopher V.
Published in American journal of human genetics (06.08.2020)
Published in American journal of human genetics (06.08.2020)
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Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen
Montasser, May E, Van Hout, Cristopher V, Miloscio, Lawrence, Howard, Alicia D, Rosenberg, Avraham, Callaway, Myrasol, Shen, Biao, Li, Ning, Locke, Adam E, Verweij, Niek, De, Tanima, Ferreira, Manuel A, Lotta, Luca A, Baras, Aris, Daly, Thomas J, Hartford, Suzanne A, Lin, Wei, Mao, Yuan, Ye, Bin, White, Derek, Gong, Guochun, Perry, James A, Ryan, Kathleen A, Fang, Qing, Tzoneva, Gannie, Pefanis, Evangelos, Hunt, Charleen, Tang, Yajun, Lee, Lynn, Sztalryd-Woodle, Carole, Mitchell, Braxton D, Healy, Matthew, Streeten, Elizabeth A, Taylor, Simeon I, O'Connell, Jeffrey R, Economides, Aris N, Della Gatta, Giusy, Shuldiner, Alan R
Published in Science (American Association for the Advancement of Science) (03.12.2021)
Published in Science (American Association for the Advancement of Science) (03.12.2021)
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Functional characterization of a novel p.Ser76Thr variant in IGFBP4 that associates with body mass index in American Indians
Muller, Yunhua L, Saporito, Michael, Day, Samantha, Bandesh, Khushdeep, Koroglu, Cigdem, Kobes, Sayuko, Knowler, William C, Hanson, Robert L, Van Hout, Cristopher V, Shuldiner, Alan R, Bogardus, Clifton, Baier, Leslie J
Published in European journal of human genetics : EJHG (01.10.2022)
Published in European journal of human genetics : EJHG (01.10.2022)
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Journal Article
Exome Sequencing Identifies A Nonsense Variant in DAO Associated With Reduced Energy Expenditure in American Indians
Piaggi, Paolo, Köroğlu, Çiğdem, Nair, Anup K, Sutherland, Jeff, Muller, Yunhua L, Kumar, Pankaj, Hsueh, Wen-Chi, Kobes, Sayuko, Shuldiner, Alan R, Kim, Hye In, Gosalia, Nehal, Van Hout, Cristopher V, Jones, Marcus, Knowler, William C, Krakoff, Jonathan, Hanson, Robert L, Bogardus, Clifton, Baier, Leslie J
Published in The journal of clinical endocrinology and metabolism (01.11.2020)
Published in The journal of clinical endocrinology and metabolism (01.11.2020)
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Journal Article
A missense variant Arg611Cys in LIPE which encodes hormone sensitive lipase decreases lipolysis and increases risk of type 2 diabetes in American Indians
Muller, Yunhua L., Sutherland, Jeff, Nair, Anup K., Koroglu, Cigdem, Kobes, Sayuko, Knowler, William C., Van Hout, Cristopher V., Shuldiner, Alan R., Hanson, Robert L., Bogardus, Clifton, Baier, Leslie J.
Published in Diabetes/metabolism research and reviews (01.03.2022)
Published in Diabetes/metabolism research and reviews (01.03.2022)
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Genome‐wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals
Gao, Chuan, Marcketta, Anthony, Backman, Joshua D., O'Dushlaine, Colm, Staples, Jeffrey, Ferreira, Manuel Allen Revez, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Mirshahi, Tooraj, Regeneron Genetics Center, Geisinger Regeneron Discovehr Collaboration, Baras, Aris, Abecasis, Gonçalo, Shuldiner, Alan R., Van Hout, Cristopher V., McCarthy, Shane
Published in Genetic epidemiology (01.09.2021)
Published in Genetic epidemiology (01.09.2021)
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Biallelic truncating variants in the muscular A‐type lamin‐interacting protein (MLIP) gene cause myopathy with hyperCKemia
Salzer‐Sheelo, Liat, Fellner, Avi, Orenstein, Naama, Bazak, Lily, Lev‐El Halabi, Noa, Daue, Melanie, Smirin‐Yosef, Pola, Van Hout, Cristopher V., Fellig, Yakov, Ruhrman‐Shahar, Noa, Staples, Jeffrey, Magal, Nurit, Shuldiner, Alan R., Mitchell, Braxton D., Nevo, Yoram, Pollin, Toni I., Gonzaga‐Jauregui, Claudia, Basel‐Salmon, Lina
Published in European journal of neurology (01.04.2022)
Published in European journal of neurology (01.04.2022)
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Genomic diagnostics within a medically underserved population: efficacy and implications
Strauss, Kevin A., Gonzaga-Jauregui, Claudia, Brigatti, Karlla W., Williams, Katie B., King, Alejandra K., Van Hout, Cristopher, Robinson, Donna L., Young, Millie, Praveen, Kavita, Heaps, Adam D., Kuebler, Mindy, Baras, Aris, Reid, Jeffrey G., Overton, John D., Dewey, Frederick E., Jinks, Robert N., Finnegan, Ian, Mellis, Scott J., Shuldiner, Alan R., Puffenberger, Erik G.
Published in Genetics in medicine (01.01.2018)
Published in Genetics in medicine (01.01.2018)
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