MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae by Parle-McDermott, Anne, Mills, James L., Kirke, Peadar N., Cox, Christopher, Signore, Caroline C., Kirke, Sandra, Molloy, Anne M., O'Leary, Valerie B., Pangilinan, Faith J., O'Herlihy, Colm, Brody, Lawrence C., Scott, John M.

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Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies by Abou-Khalil, Bassel, Auce, Pauls, Bahlo, Melanie, Balding, David J., Bast, Thomas, Becker, Albert J., Berkovic, Samuel F., Boysen, Katja E., Bradfield, Jonathan P., Brody, Lawrence C., Campbell, Ellen, Cascino, Gregory D., Catarino, Claudia B., Cherny, Stacey S., Compston, Alastair, Coppola, Antonietta, Cossette, Patrick, Craig, John J., de Haan, Gerrit-Jan, de Kovel, Carolien G. F., Delanty, Norman, Depondt, Chantal, Devinsky, Orrin, Doherty, Colin P., Elger, Christian E., Eriksson, Johan G., Ferraro, Thomas N., Francis, Ben, Freytag, Saskia, Gaus, Verena, Geller, Eric B., Glauser, Tracy, Goldstein, David B., Gui, Hongsheng, Haas, Kevin F., Hakonarson, Hakon, Hallmann, Kerstin, Helbig, Ingo, Hengsbach, Christian, Hjalgrim, Helle, Iacomino, Michele, Jamnadas-Khoda, Jennifer, Johnson, Michael R., Kasperavičiūte, Dalia, Kasteleijn-Nolst Trenite, Dorothee, Knowlton, Robert C., Kuzniecky, Ruben, Lau, Yu-Lung, Lehesjoki, Anna-Elina, Lerche, Holger, Lieb, Wolfgang, Lindhout, Dick, Lo, Warren D., Lopes-Cendes, Iscia, Lowenstein, Daniel H., Marson, Anthony G., McCormack, Mark, Mills, James L., Mirza, Nasir, Møller, Rikke S., Newton, Mark, Ng, Ping-Wing, Oliver, Karen L., Palotie, Aarno, Peter, Sarah, Petrovski, Slavé, Privitera, Michael, Radtke, Rodney, Reif, Philipp S., Reinthaler, Eva M., Rosenow, Felix, Sander, Josemir W., Sander, Thomas, Scattergood, Theresa, Schankin, Christoph J., Scheffer, Ingrid E., Schmitz, Bettina, Schoch, Susanne, Sills, Graeme J., Sisodiya, Sanjay M., Slattery, Lisa, Smith, David F., Smith, Michael C., Smith, Philip E., Sperling, Michael R., Steinhoff, Bernhard J., Stephani, Ulrich, Striano, Pasquale, Stroink, Hans, Surges, Rainer, Thio, Liu Lin, Todaro, Marian, Vari, Maria S., Visscher, Frank, von Spiczak, Sarah, Walley, Nicole M., Weisenberg, Judith, Yang, Wanling, Zara, Federico, Zimprich, Fritz

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Mito-SiPE is a sequence-independent and PCR-free mtDNA enrichment method for accurate ultra-deep mitochondrial sequencing by Walsh, Darren J, Bernard, David J, Pangilinan, Faith, Esposito, Madison, Harold, Denise, Parle-McDermott, Anne, Brody, Lawrence C

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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture by Campbell, Ciarán, Chen, Siwei, Andrade, Danielle M, Annesi, Grazia, Auce, Pauls, Bebek, Nerses, Berkovic, Samuel F, Beydoun, Ahmad, Blatt, Ilan, Borggraefe, Ingo, Bradfield, Jonathan P, Brody, Lawrence C, Canafoglia, Laura, Castellotti, Barbara, Cerrato, Felecia, Cherny, Stacey S, Cheung, Ching-Lung, Cole, Andrew J, Cossette, Patrick, Daly, Mark J, Dlugos, Dennis J, Doherty, Colin P, Ellis, Colin A, Feucht, Martha, Franceschetti, Silvana, French, Jacqueline A, Gambardella, Antonio, Granata, Tiziana, Guerrini, Renzo, Haas, Kevin F, Howrigan, Daniel P, Jamnadas-Khoda, Jennifer, Jehi, Lara, Kanai, Masahiro, Kantanen, Anne-Mari, Kara, Bülent, Kasperavičiūte, Dalia, Kasteleijn-Nolst Trenite, Dorothee, Kegele, Josua, King, Chontelle, Klein, Karl M, Korczyn, Amos D, Koupparis, Andreas, Krey, Ilona, Kurki, Mitja I, Lauxmann, Stephen, Leech, Stephanie L, Lehesjoki, Anna-Elina, Lesca, Gaetan, Leu, Costin, Lewin, Naomi, Lopes-Cendes, Iscia, Magnusson, Sigurdur, Marson, Anthony G, May, Patrick, McGraw, Christopher M, Mei, Davide, Montomoli, Martino, Mostacci, Barbara, Muccioli, Lorenzo, Müller-Schlüter, Karen, Neubauer, Bernd, Nothnagel, Michael, Pendziwiat, Manuela, Pondrelli, Federica, Powell, Rob H. W, Privitera, Michael, Ragona, Francesca, Regan, Brigid M, Sadleir, Lynette G, Sander, Josemir W, Scala, Marcello, Sham, Pak, Sheidley, Beth R, Shih, Jerry J, Smith, Michael C, Sonsma, Anja C. M, Sperling, Michael R, Stephani, Ulrich, Stewart, William C, Stipa, Carlotta, Striano, Pasquale, Tan, K. Meng, Thomas, G. Neil, Timonen, Oskari, Todaro, Marian, Topaloğlu, Pınar, Tumiene, Birute, Utkus, Algirdas, van Baalen, Andreas, Visscher, Frank, Weber, Yvonne G, Weisenberg, Judith, Widdess-Walsh, Peter, Wolff, Markus, Wolking, Stefan, Yapıcı, Zuhal, Zagaglia, Sara, Zara, Federico, Zhou, Wei

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SLC25A48 influences plasma levels of choline and localizes to the inner mitochondrial membrane by Bernard, David J., Pangilinan, Faith, Mendina, Caitlin, Desporte, Tara, Wincovitch, Stephen M., Walsh, Darren J., Porter, Richard K., Molloy, Anne M., Shane, Barry, Brody, Lawrence C.

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Investigating Genetic Determinants of Plasma Inositol Status in Adult Humans by Weston, Eleanor, Pangilinan, Faith, Eaton, Simon, Orford, Michael, Leung, Kit-Yi, Copp, Andrew J, Mills, James L, Molloy, Anne M, Brody, Lawrence C, Greene, Nicholas DE

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Investigating Genetic Determinants of Plasma Inositol Status in Adult Humans by Weston, Eleanor, Pangilinan, Faith, Eaton, Simon, Orford, Michael, Leung, Kit-Yi, Copp, Andrew J, Mills, James L, Molloy, Anne M, Brody, Lawrence C, Greene, Nicholas DE

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A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin by Molloy, Anne M., Pangilinan, Faith, Mills, James L., Shane, Barry, O’Neill, Mary B., McGaughey, David M., Velkova, Aneliya, Abaan, Hatice Ozel, Ueland, Per M., McNulty, Helene, Ward, Mary, Strain, J.J., Cunningham, Conal, Casey, Miriam, Cropp, Cheryl D., Kim, Yoonhee, Bailey-Wilson, Joan E., Wilson, Alexander F., Brody, Lawrence C.

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Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome by Blue, Elizabeth E., White, Janson J., Dush, Michael K., Gordon, William W., Wyatt, Brent H., White, Peter, Marvin, Colby T., Helle, Emmi, Ojala, Tiina, Priest, James R., Jenkins, Mary M., Almli, Lynn M., Reefhuis, Jennita, Pangilinan, Faith, Brody, Lawrence C., McBride, Kim L., Garg, Vidu, Shaw, Gary M., Romitti, Paul A., Nembhard, Wendy N., Browne, Marilyn L., Werler, Martha M., Kay, Denise M., Mital, Seema, Chong, Jessica X., Nascone-Yoder, Nanette M., Bamshad, Michael J.

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Exome sequencing identifies genetic variants in anophthalmia and microphthalmia by Li, Jingjing, Yang, Wei, Wang, Yuejun Jessie, Ma, Chen, Curry, Cynthia J., McGoldrick, Daniel, Nickerson, Deborah A., Chong, Jessica X., Blue, Elizabeth E., Mullikin, James C., Reefhuis, Jennita, Nembhard, Wendy N., Romitti, Paul A., Werler, Martha M., Browne, Marilyn L., Olshan, Andrew F., Finnell, Richard H., Feldkamp, Marcia L., Pangilinan, Faith, Almli, Lynn M., Bamshad, Mike J., Brody, Lawrence C., Jenkins, Mary M., Shaw, Gary M.

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Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy by Stevelink, Remi, Pangilinan, Faith, Jansen, Floor E., Braun, Kees P.J., Molloy, Anne M., Brody, Lawrence C., Koeleman, Bobby P.C.

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Vitamin B12 status and folic acid supplementation influence mitochondrial heteroplasmy levels in mice by Walsh, Darren J, Bernard, David J, Fiddler, Joanna L, Pangilinan, Faith, Esposito, Madison, Harold, Denise, Field, Martha S, Parle-McDermott, Anne, Brody, Lawrence C

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Exome‐wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel ra... by Sok, Pagna, Sabo, Aniko, Almli, Lynn M., Jenkins, Mary M., Nembhard, Wendy N., Agopian, A. J., Bamshad, Michael J., Blue, Elizabeth E., Brody, Lawrence C., Brown, Austin L., Browne, Marilyn L., Canfield, Mark A., Carmichael, Suzan L., Chong, Jessica X., Dugan‐Perez, Shannon, Feldkamp, Marcia L., Finnell, Richard H., Gibbs, Richard A., Kay, Denise M., Lei, Yunping, Meng, Qingchang, Moore, Cynthia A., Mullikin, James C., Muzny, Donna, Olshan, Andrew F., Pangilinan, Faith, Reefhuis, Jennita, Romitti, Paul A., Schraw, Jeremy M., Shaw, Gary M., Werler, Martha M., Harpavat, Sanjiv, Lupo, Philip J.

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Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children by Pitsava, Georgia, Feldkamp, Marcia L., Pankratz, Nathan, Lane, John, Kay, Denise M., Conway, Kristin M., Shaw, Gary M., Reefhuis, Jennita, Jenkins, Mary M., Almli, Lynn M., Olshan, Andrew F., Pangilinan, Faith, Brody, Lawrence C., Sicko, Robert J., Hobbs, Charlotte A., Bamshad, Mike, McGoldrick, Daniel, Nickerson, Deborah A., Finnell, Richard H., Mullikin, James, Romitti, Paul A., Mills, James L.

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Association of a transcobalamin II genetic variant with falsely low results for the holotranscobalamin immunoassay by Sobczyńska-Malefora, Agata, Pangilinan, Faith, Plant, Gordon T., Velkova, Aneliya, Harrington, Dominic J., Molloy, Anne M., Brody, Lawrence C.

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Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study by Blue, Elizabeth E., Moore, Kristin J., North, Kari E., Desrosiers, Tania A., Carmichael, Suzan L., White, Janson J., Chong, Jessica X., Bamshad, Michael J., Jenkins, Mary M., Almli, Lynn M., Brody, Lawrence C., Freedman, Sharon F., Reefhuis, Jennita, Romitti, Paul A., Shaw, Gary M., Werler, Martha, Kay, Denise M., Browne, Marilyn L., Feldkamp, Marcia L., Finnell, Richard H., Nembhard, Wendy N., Pangilinan, Faith, Olshan, Andrew F.

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Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association by O’Leary, Valerie B., Mills, James L., Pangilinan, Faith, Kirke, Peadar N., Cox, Christopher, Conley, Mary, Weiler, Andrea, Peng, Kun, Shane, Barry, Scott, John M., Parle-McDermott, Anne, Molloy, Anne M., Brody, Lawrence C.

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Exome sequencing identifies variants in infants with sacral agenesis by Pitsava, Georgia, Feldkamp, Marcia L., Pankratz, Nathan, Lane, John, Kay, Denise M., Conway, Kristin M., Hobbs, Charlotte, Shaw, Gary M., Reefhuis, Jennita, Jenkins, Mary M., Almli, Lynn M., Moore, Cynthia, Werler, Martha, Browne, Marilyn L., Cunniff, Chris, Olshan, Andrew F., Pangilinan, Faith, Brody, Lawrence C., Sicko, Robert J., Finnell, Richard H., Bamshad, Michael J., McGoldrick, Daniel, Nickerson, Deborah A., Mullikin, James C., Romitti, Paul A., Mills, James L., Brody, Lawrence C., Browne, Marilyn L., Feldkamp, Marcia L., Hobbs, Charlotte, Jenkins, Mary M., Olshan, Andrew F., Reefhuis, Jennita, Romitti, Paul A., Shaw, Gary M., Werler, Martha, Almli, Lynn M., Browne, Marilyn L., Conway, Kristin M., Feldkamp, Marcia L., Finnell, Richard H., Hobbs, Charlotte, Jenkins, Mary M., Moore, Cynthia, Olshan, Andrew F., Reefhuis, Jennita, Keegan, Romitti, Paul A., Shaw, Gary M., Werler, Martha, Bamshad, Michael J., Brody, Lawrence C., Kay, Denise M., McGoldrick, Daniel, Mullikin, James C., Nickerson, Deborah A., Pangilinan, Faith, Sicko, Robert J., Lane, John, Pankratz, Nathan, Bamshad, Michael J., Brody, Lawrence C., Feldkamp, Marcia L., Kay, Denise M., Lane, John, McGoldrick, Daniel, Mills, James L., Nickerson, Deborah A., Pankratz, Nathan, Pitsava, Georgia, Romitti, Paul A., Sicko, Robert J., Pitsava, Georgia, Feldkamp, Marcia L., Kay, Denise M., Lane, John, Mills, James L., Pankratz, Nathan, Pangilinan, Faith, Romitti, Paul A., Almli, Lynn M., Bamshad, Michael J., Brody, Lawrence C., Conway, Kristin M., Cunniff, Chris, Finnell, Richard H., Hobbs, Charlotte, Jenkins, Mary M., McGoldrick, Daniel, Mullikin, James C., Nickerson, Deborah A., Olshan, Andrew F., Reefhuis, Jennita, Keegan, Browne, Marilyn L., Canfield, Shaw, Gary M., Sicko, Robert J., Mills, James L., Romitti, Paul A.

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Reduced folate carrier polymorphisms and neural tube defect risk by O’Leary, Valerie B., Pangilinan, Faith, Cox, Christopher, Parle-McDermott, Anne, Conley, Mary, Molloy, Anne M., Kirke, Peadar N., Mills, James L., Brody, Lawrence C., Scott, John M.

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Testing reported associations of genetic risk factors for oral clefts in a large Irish study population by Carter, Tonia C., Molloy, Anne M., Pangilinan, Faith, Troendle, James F., Kirke, Peadar N., Conley, Mary R., Orr, David J. A., Earley, Michael, McKiernan, Eamon, Lynn, Ena C., Doyle, Anne, Scott, John M., Brody, Lawrence C., Mills, James L.

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