Pharmacogenetic allele variant frequencies: An analysis of the VA's Million Veteran Program (MVP) as a representation of the diversity in US population von Markianos, Kyriacos, Dong, Frederic, Gorman, Bryan, Shi, Yunling, Dochtermann, Daniel, Saxena, Uma, Devineni, Poornima, Moser, Jennifer, Muralidhar, Sumitra, Ramoni, Rachel, Tsao, Philip, Pyarajan, Saiju, Przygodzki, Ronald

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Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA) von Finberg, Karin E, Heeney, Matthew M, Campagna, Dean R, Aydınok, Yeşim, Pearson, Howard A, Hartman, Kip R, Mayo, Mary M, Samuel, Stewart M, Strouse, John J, Markianos, Kyriacos, Andrews, Nancy C, Fleming, Mark D

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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy von Ceyhan-Birsoy, Ozge, Agrawal, Pankaj B., Hidalgo, Carlos, Schmitz-Abe, Klaus, DeChene, Elizabeth T., Swanson, Lindsay C., Soemedi, Rachel, Vasli, Nasim, Iannaccone, Susan T., Shieh, Perry B., Shur, Natasha, Dennison, Jane M., Lawlor, Michael W., Laporte, Jocelyn, Markianos, Kyriacos, Fairbrother, William G., Granzier, Henk, Beggs, Alan H.

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Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry von Morrow, Eric M, Yoo, Seung-Yun, Flavell, Steven W, Kim, Tae-Kyung, Lin, Yingxi, Hill, Robert Sean, Mukaddes, Nahit M, Balkhy, Soher, Gascon, Generoso, Hashmi, Asif, Al-Saad, Samira, Ware, Janice, Joseph, Robert M, Greenblatt, Rachel, Gleason, Danielle, Ertelt, Julia A, Apse, Kira A, Bodell, Adria, Partlow, Jennifer N, Barry, Brenda, Yao, Hui, Markianos, Kyriacos, Ferland, Russell J, Greenberg, Michael E, Walsh, Christopher A

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Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9 von Schmitz-Abe, Klaus, Ciesielski, Szymon J., Schmidt, Paul J., Campagna, Dean R., Rahimov, Fedik, Schilke, Brenda A., Cuijpers, Marloes, Rieneck, Klaus, Lausen, Birgitte, Linenberger, Michael L., Sendamarai, Anoop K., Guo, Chaoshe, Hofmann, Inga, Newburger, Peter E., Matthews, Dana, Shimamura, Akiko, Snijders, Pieter J.L.M., Towne, Meghan C., Niemeyer, Charlotte M., Watson, Henry G., Dziegiel, Morten H., Heeney, Matthew M., May, Alison, Bottomley, Sylvia S., Swinkels, Dorine W., Markianos, Kyriacos, Craig, Elizabeth A., Fleming, Mark D.

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Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder von Schmitz-Abe, Klaus, Sanchez-Schmitz, Guzman, Doan, Ryan N., Hill, R. Sean, Chahrour, Maria H., Mehta, Bhaven K., Servattalab, Sarah, Ataman, Bulent, Lam, Anh-Thu N., Morrow, Eric M., Greenberg, Michael E., Yu, Timothy W., Walsh, Christopher A., Markianos, Kyriacos

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Biallelic mutations in human DCC cause developmental split-brain syndrome von Jamuar, Saumya S, Schmitz-Abe, Klaus, D'Gama, Alissa M, Drottar, Marie, Chan, Wai-Man, Peeva, Maya, Servattalab, Sarah, Lam, Anh-Thu N, Delgado, Mauricio R, Clegg, Nancy J, Zayed, Zayed Al, Dogar, Mohammad Asif, Alorainy, Ibrahim A, Jamea, Abdullah Abu, Abu-Amero, Khaled, Griebel, May, Ward, Wendy, Lein, Ed S, Markianos, Kyriacos, Barkovich, A James, Robson, Caroline D, Grant, P Ellen, Bosley, Thomas M, Engle, Elizabeth C, Walsh, Christopher A, Yu, Timothy W

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A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia von Lichtenstein, Daniel A., Crispin, Andrew W., Sendamarai, Anoop K., Campagna, Dean R., Schmitz-Abe, Klaus, Sousa, Cristovao M., Kafina, Martin D., Schmidt, Paul J., Niemeyer, Charlotte M., Porter, John, May, Alison, Patnaik, Mrinal M., Heeney, Matthew M., Kimmelman, Alec, Bottomley, Sylvia S., Paw, Barry H., Markianos, Kyriacos, Fleming, Mark D.

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Genetic Structure of a Local Population of the Anopheles gambiae Complex in Burkina Faso von Markianos, Kyriacos, Bischoff, Emmanuel, Mitri, Christian, Guelbeogo, Wamdaogo M, Gneme, Awa, Eiglmeier, Karin, Holm, Inge, Sagnon, N'Fale, Vernick, Kenneth D, Riehle, Michelle M

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A multi-ancestry GWAS of Fuchs corneal dystrophy highlights the contributions of laminins, collagen, and endothelial cell regulation von Gorman, Bryan R., Francis, Michael, Nealon, Cari L., Halladay, Christopher W., Duro, Nalvi, Markianos, Kyriacos, Genovese, Giulio, Hysi, Pirro G., Choquet, Hélène, Afshari, Natalie A., Li, Yi-Ju, Gaziano, J. Michael, Hung, Adriana M., Wu, Wen-Chih, Greenberg, Paul B., Pyarajan, Saiju, Lass, Jonathan H., Peachey, Neal S., Iyengar, Sudha K.

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X‐linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA‐binding site mutations von Campagna, Dean R., Bie, Charlotte I., Schmitz‐Abe, Klaus, Sweeney, Marion, Sendamarai, Anoop K., Schmidt, Paul J., Heeney, Matthew M., Yntema, Helger G., Kannengiesser, Caroline, Grandchamp, Bernard, Niemeyer, Charlotte M., Knoers, Nine V.A.M., Swart, Sonia, Marron, Gordon, Wijk, Richard, Raymakers, Reinier A., May, Alison, Markianos, Kyriacos, Bottomley, Sylvia S., Swinkels, Dorine W., Fleming, Mark D.

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A Novel Rat Model of Hereditary Hemochromatosis Due to a Mutation in Transferrin Receptor 2 von Bartnikas, Thomas Benedict, Wildt, Sheryl, Wineinger, Amy, Schmitz-Abe, Klaus, Markianos, Kyriacos, Cooper, Dale, Fleming, Mark D.

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Genetic Loci Affecting Resistance to Human Malaria Parasites in a West African Mosquito Vector Population von Niaré, Oumou, Markianos, Kyriacos, Volz, Jennifer, Oduol, Frederick, Touré, Abdoulaye, Bagayoko, Magaran, Sangaré, Djibril, Traoré, Sekou F., Wang, Rui, Blass, Claudia, Dolo, Guimogo, Bouaré, Madama, Kafatos, Fotis C., Kruglyak, Leonid, Touré, Yeya T., Vernick, Kenneth D.

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Pharmacogenetic allele variant frequencies: An analysis of the VA's Million Veteran Program von Markianos, Kyriacos, Dong, Frederic, Gorman, Bryan, Shi, Yunling, Dochtermann, Daniel, Saxena, Uma, Devineni, Poornima, Moser, Jennifer, Muralidhar, Sumitra, Ramoni, Rachel, Tsao, Philip, Pyarajan, Saiju, Przygodzki, Ronald

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A major genetic locus controlling natural Plasmodium falciparum infection is shared by East and West African Anopheles gambiae von Riehle, Michelle M, Markianos, Kyriacos, Lambrechts, Louis, Xia, Ai, Sharakhov, Igor, Koella, Jacob C, Vernick, Kenneth D

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Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD) von Chakraborty, Pranesh K., Schmitz-Abe, Klaus, Kennedy, Erin K., Mamady, Hapsatou, Naas, Turaya, Durie, Danielle, Campagna, Dean R., Lau, Ashley, Sendamarai, Anoop K., Wiseman, Daniel H., May, Alison, Jolles, Stephen, Connor, Philip, Powell, Colin, Heeney, Matthew M., Giardina, Patricia-Jane, Klaassen, Robert J., Kannengiesser, Caroline, Thuret, Isabelle, Thompson, Alexis A., Marques, Laura, Hughes, Stephen, Bonney, Denise K., Bottomley, Sylvia S., Wynn, Robert F., Laxer, Ronald M., Minniti, Caterina P., Moppett, John, Bordon, Victoria, Geraghty, Michael, Joyce, Paul B.M., Markianos, Kyriacos, Rudner, Adam D., Holcik, Martin, Fleming, Mark D.

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Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity von Massaad, Michel J, Zhou, Jia, Tsuchimoto, Daisuke, Chou, Janet, Jabara, Haifa, Janssen, Erin, Glauzy, Salomé, Olson, Brennan G, Morbach, Henner, Ohsumi, Toshiro K, Schmitz, Klaus, Kyriacos, Markianos, Kane, Jennifer, Torisu, Kumiko, Nakabeppu, Yusaku, Notarangelo, Luigi D, Chouery, Eliane, Megarbane, Andre, Kang, Peter B, Al-Idrissi, Eman, Aldhekri, Hasan, Meffre, Eric, Mizui, Masayuki, Tsokos, George C, Manis, John P, Al-Herz, Waleed, Wallace, Susan S, Geha, Raif S

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Autoimmune alleles at the major histocompatibility locus modify melanoma susceptibility von Talwar, James V., Laub, David, Pagadala, Meghana S., Castro, Andrea, Lewis, McKenna, Luebeck, Georg E., Gorman, Bryan R., Pan, Cuiping, Dong, Frederick N., Markianos, Kyriacos, Teerlink, Craig C., Lynch, Julie, Hauger, Richard, Pyarajan, Saiju, Tsao, Philip S., Morris, Gerald P., Salem, Rany M., Thompson, Wesley K., Curtius, Kit, Zanetti, Maurizio, Carter, Hannah

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The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders von Buxbaum, Joseph D., Daly, Mark J., Devlin, Bernie, Lehner, Thomas, Roeder, Kathryn, State, Matthew W.

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Comparative RNA editing in autistic and neurotypical cerebella von Eran, A, Li, J B, Vatalaro, K, McCarthy, J, Rahimov, F, Collins, C, Markianos, K, Margulies, D M, Brown, E N, Calvo, S E, Kohane, I S, Kunkel, L M

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