Chromosome 2q37 deletion: Clinical and molecular aspects by Falk, Rena E., Casas, Kari A.

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Adoptees’ Pursuit of Genomic Testing to Fill Gaps in Family Health History and Reduce Healthcare Disparity by Casas, Kari A

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Chromosome 2q terminal deletion: Report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals by Casas, Kari A., Mononen, Tarja K., Mikail, Claudia N., Hassed, Susan J., Li, Shibo, Mulvihill, John J., Lin, Henry J., Falk, Rena E.

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The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization by Sanmann, Jennifer N., Casas, Kari A., Bevilacqua, Jen, Bishay, Danielle L., Clark, Tanner, Van Dyke, A. Zephyr, Leiferman, Patricia Crotwell, Reddi, Honey V., Starr, Lois J.

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Mitochondrial myopathy and sideroblastic anemia by Casas, Kari A., Fischel‐Ghodsian, Nathan

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De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome by Chan, Sherine S L, Naviaux, Robert K, Basinger, Alice A, Casas, Kari A, Copeland, William C

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Abstract B83: Breast cancer risk evaluation and action using the OncoVue Risk Tool in self-referred and targeted minority populations by Casas, Kari A

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Chromosome 2q37 Deletion : Clinical and Molecular Aspects: Subtelomeric microdeletion Syndromes by FALK, Rena E, CASAS, Kari A

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Mitochondrial myopathy and sideroblastic anemia by Casas, Kari A., Fischel-Ghodsian, Nathan

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Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis by Holmes, Michael V., Lange, Leslie A., Palmer, Tom, Lanktree, Matthew B., North, Kari E., Almoguera, Berta, Buxbaum, Sarah, Chandrupatla, Hareesh R., Elbers, Clara C., Guo, Yiran, Hoogeveen, Ron C., Li, Jin, Li, Yun R., Swerdlow, Daniel I., Cushman, Mary, Price, Tom S., Curtis, Sean P., Fornage, Myriam, Hakonarson, Hakon, Patel, Sanjay R., Redline, Susan, Siscovick, David S., Tsai, Michael Y., Wilson, James G., van der Schouw, Yvonne T., FitzGerald, Garret A., Hingorani, Aroon D., Casas, Juan P., de Bakker, Paul I.W., Rich, Stephen S., Schadt, Eric E., Asselbergs, Folkert W., Reiner, Alex P., Keating, Brendan J.

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Missense Mutation in Pseudouridine Synthase 1 ( PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA) by Bykhovskaya, Yelena, Casas, Kari, Mengesha, Emebet, Inbal, Aida, Fischel-Ghodsian, Nathan

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Mendelian randomization of blood lipids for coronary heart disease by Holmes, Michael V, Asselbergs, Folkert W, Palmer, Tom M, Drenos, Fotios, Lanktree, Matthew B, Nelson, Christopher P, Dale, Caroline E, Padmanabhan, Sandosh, Finan, Chris, Swerdlow, Daniel I, Tragante, Vinicius, van Iperen, Erik P A, Sivapalaratnam, Suthesh, Shah, Sonia, Elbers, Clara C, Shah, Tina, Engmann, Jorgen, Giambartolomei, Claudia, White, Jon, Zabaneh, Delilah, Sofat, Reecha, McLachlan, Stela, Doevendans, Pieter A, Balmforth, Anthony J, Hall, Alistair S, North, Kari E, Almoguera, Berta, Hoogeveen, Ron C, Cushman, Mary, Fornage, Myriam, Patel, Sanjay R, Redline, Susan, Siscovick, David S, Tsai, Michael Y, Karczewski, Konrad J, Hofker, Marten H, Verschuren, W Monique, Bots, Michiel L, van der Schouw, Yvonne T, Melander, Olle, Dominiczak, Anna F, Morris, Richard, Ben-Shlomo, Yoav, Price, Jackie, Kumari, Meena, Baumert, Jens, Peters, Annette, Thorand, Barbara, Koenig, Wolfgang, Gaunt, Tom R, Humphries, Steve E, Clarke, Robert, Watkins, Hugh, Farrall, Martin, Wilson, James G, Rich, Stephen S, de Bakker, Paul I W, Lange, Leslie A, Davey Smith, George, Reiner, Alex P, Talmud, Philippa J, Kivimäki, Mika, Lawlor, Debbie A, Dudbridge, Frank, Samani, Nilesh J, Keating, Brendan J, Hingorani, Aroon D, Casas, Juan P

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Ischemic stroke is associated with the ABO locus: The EuroCLOT study by Williams, Frances M. K., Carter, Angela M., Hysi, Pirro G., Surdulescu, Gabriela, Hodgkiss, Dylan, Soranzo, Nicole, Traylor, Matthew, Bevan, Steve, Dichgans, Martin, Rothwell, Peter M. W., Sudlow, Cathie, Farrall, Martin, Silander, Kaisa, Kaunisto, Mari, Wagner, Peter, Saarela, Olli, Kuulasmaa, Kari, Virtamo, Jarmo, Salomaa, Veikko, Amouyel, Philippe, Arveiler, Dominique, Ferrieres, Jean, Wiklund, Per-Gunnar, Arfan Ikram, M., Hofman, Albert, Boncoraglio, Giorgio B., Parati, Eugenio A., Helgadottir, Anna, Gretarsdottir, Solveig, Thorsteinsdottir, Unnur, Thorleifsson, Gudmar, Stefansson, Kari, Seshadri, Sudha, DeStefano, Anita, Gschwendtner, Andreas, Psaty, Bruce, Longstreth, Will, Mitchell, Braxton D., Cheng, Yu-Ching, Clarke, Robert, Ferrario, Marco, Bis, Joshua C., Levi, Christopher, Attia, John, Holliday, Elizabeth G., Scott, Rodney J., Fornage, Myriam, Sharma, Pankaj, Furie, Karen L., Rosand, Jonathan, Nalls, Mike, Meschia, James, Mosely, Thomas H., Evans, Alun, Palotie, Aarno, Markus, Hugh S., Grant, Peter J., Spector, Tim D.

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Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase by Turgeon, Coleman, Casas, Kari, Flanagan, Ryan, White, Amy, Peck, Dawn, Pino, Gisele Bentz, Jones, April Studinski, Gavrilov, Dimitar, Oglesbee, Devin, Schultz, Matthew J., Tortorelli, Silvia, Matern, Dietrich, Hall, Patricia L.

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Psychiatric comorbidity in treatment-seeking substance use disorder patients with and without attention deficit hyperactivity disorder: results of the IASP study by van Emmerik-van Oortmerssen, Katelijne, van de Glind, Geurt, Koeter, Maarten W. J., Allsop, Steve, Auriacombe, Marc, Barta, Csaba, Bu, Eli Torild H., Burren, Yuliya, Carpentier, Pieter-Jan, Carruthers, Susan, Casas, Miguel, Demetrovics, Zsolt, Dom, Geert, Faraone, Stephen V., Fatseas, Melina, Franck, Johan, Johnson, Brian, Kapitány-Fövény, Máté, Kaye, Sharlene, Konstenius, Maija, Levin, Frances R., Moggi, Franz, Møller, Merete, Ramos-Quiroga, J. Antoni, Schillinger, Arild, Skutle, Arvid, Verspreet, Sofie, van den Brink, Wim, Schoevers, Robert A.

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Variability in the prevalence of adult ADHD in treatment seeking substance use disorder patients: Results from an international multi-center study exploring DSM-IV and DSM-5 criter... by van de Glind, Geurt, Konstenius, Maija, Koeter, Maarten W.J, van Emmerik-van Oortmerssen, Katelijne, Carpentier, Pieter-Jan, Kaye, Sharlene, Degenhardt, Louisa, Skutle, Arvid, Franck, Johan, Bu, Eli-Torild, Moggi, Franz, Dom, Geert, Verspreet, Sofie, Demetrovics, Zsolt, Kapitány-Fövény, Máté, Fatséas, Melina, Auriacombe, Marc, Schillinger, Arild, Møller, Merete, Johnson, Brian, Faraone, Stephen V, Ramos-Quiroga, J. Antoni, Casas, Miguel, Allsop, Steve, Carruthers, Susan, Schoevers, Robert A, Wallhed, Sara, Barta, Csaba, Alleman, Peter, Levin, Frances R, van den Brink, Wim

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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias by Helbig, Katherine L., Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Uysal, Betül, Gandini, Maria A., Huang, Sun, Keren, Boris, Mignot, Cyril, Billette de Villemeur, Thierry, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kamsteeg, Erik-Jan, Koolen, David A., Gunning, Boudewijn, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Klee, Eric W., Tillema, Jan-Mendelt, Payne, Eric T., Cousin, Margot A., Kruisselbrink, Teresa M., Wick, Myra J., Baker, Joshua, Smith, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Davis, Erica E., Fisher, Kimberley, French, Amanda, Gallentine, William, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Ross, Sherry, Sadeghpour, Azita, Smith, Edward, Wiener, John, Corbett, Mark A., Goldmann, Eva, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E., Asamoah, Alexander, McCarrier, Julie, Botto, Lorenzo D., Tvrdik, Tatiana, Cascino, Gregory D., Klingerman, Sherry, Neumann, Catherine, Nolan, Melinda A., Snell, Russell G., Lehnert, Klaus, Sadleir, Lynette G., Kvarnung, Malin, Guerrini, Renzo, Friez, Michael J., Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, El Achkar, Christelle M., Smith, Lacey A., Carss, Keren J., Rankin, Julia, Zeman, Adam, Blyth, Moira, Kerr, Bronwyn, Ruiz, Karla, Urquhart, Jill, Banka, Siddharth, Scheffer, Ingrid E., Zamponi, Gerald W., Mefford, Heather C.

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Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype by SOFAT, Reecha, CASAS, Juan P, KHAN, Jane C, SHAHID, Humma, SWAROOP, Anand, ABECASIS, Gonçalo, BRANHAM, Kari E. H, ZAREPARSI, Sepideh, BERGEN, Arthur A, KLAVER, Caroline Cw, BAAS, Dominique C, KANG ZHANG, WEBSTER, Andrew R, YUHONG CHEN, GIBBS, Daniel, WEBER, Bernhard H. F, KEILHAUER, Claudia N, FRITSCHE, Lars G, LOTERY, Andrew, CREE, Angela J, GRIFFITHS, Helen L, BHATTACHARYA, Shomi S, CHEN, Li L, BIRD, Alan C, JENKINS, Sharon A, PETO, Tune, LATHROP, Mark, LEVEILLARD, Thierry, GORIN, Michael B, WEEKS, Daniel E, CAROLINA ORTUBE, Maria, FERRELL, Robert E, JAKOBSDOTTIR, Johanna, CONLEY, Yvette P, MANN, Samantha S, RAHU, Mati, SELAND, Johan H, SOUBRANE, Gisele, TOPOUZIS, Fotis, VIOQUE, Jesus, TOMAZZOLI, Laura, YOUNG, Ian, WHITTAKER, John, CHAKRAVARTHY, Usha, DE JONG, Paulus T.v M, YATES, John Rw, SMEETH, Liam, FLETCHER, Astrid, HINGORANI, Aroon D, MOORE, Anthony T, SEPP, Tiina, CIPRIANI, Valentina, BUNCE, Catey

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Whole genome sequence analysis of blood lipid levels in >66,000 individuals by Selvaraj, Margaret Sunitha, Li, Xihao, Li, Zilin, Pampana, Akhil, Zhang, David Y., Park, Joseph, Aslibekyan, Stella, Bis, Joshua C., Brody, Jennifer A., Cade, Brian E., Chuang, Lee-Ming, Chung, Ren-Hua, Curran, Joanne E., de las Fuentes, Lisa, de Vries, Paul S., Duggirala, Ravindranath, Freedman, Barry I., Graff, Mariaelisa, Guo, Xiuqing, Heard-Costa, Nancy, Hidalgo, Bertha, Hwu, Chii-Min, Irvin, Marguerite R., Kelly, Tanika N., Kral, Brian G., Lange, Leslie, Li, Xiaohui, Lisa, Martin, Lubitz, Steven A., Manichaikul, Ani W., Michael, Preuss, Montasser, May E., Morrison, Alanna C., Naseri, Take, O’Connell, Jeffrey R., Palmer, Nicholette D., Peyser, Patricia A., Reupena, Muagututia S., Smith, Jennifer A., Sun, Xiao, Taylor, Kent D., Tracy, Russell P., Tsai, Michael Y., Wang, Zhe, Wang, Yuxuan, Bao, Wei, Wilkins, John T., Yanek, Lisa R., Zhao, Wei, Arnett, Donna K., Blangero, John, Boerwinkle, Eric, Bowden, Donald W., Chen, Yii-Der Ida, Correa, Adolfo, Cupples, L. Adrienne, Dutcher, Susan K., Ellinor, Patrick T., Fornage, Myriam, Gabriel, Stacey, Germer, Soren, Gibbs, Richard, He, Jiang, Kaplan, Robert C., Kardia, Sharon L. R., Kim, Ryan, Kooperberg, Charles, Loos, Ruth J. F., Viaud-Martinez, Karine A, Mathias, Rasika A., McGarvey, Stephen T., Mitchell, Braxton D., Nickerson, Deborah, North, Kari E., Psaty, Bruce M., Redline, Susan, Reiner, Alexander P., Vasan, Ramachandran S., Rich, Stephen S., Willer, Cristen, Rotter, Jerome I., Rader, Daniel J., Lin, Xihong, Peloso, Gina M., Natarajan, Pradeep

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National trends in total cholesterol obscure heterogeneous changes in HDL and non-HDL cholesterol and total-to-HDL cholesterol ratio: a pooled analysis of 458 population-based stud... by Taddei, Cristina, Jackson, Rod, Zhou, Bin, Bixby, Honor, Danaei, Goodarz, Di Cesare, Mariachiara, Kuulasmaa, Kari, Hajifathalian, Kaveh, Bentham, James, Bennett, James E, Aekplakorn, Wichai, Cifkova, Renata, Dallongeville, Jean, DeBacquer, Dirk, Giampaoli, Simona, Gudnason, Vilmundur, Khang, Young-Ho, Laatikainen, Tiina, Mann, JimI, Marques-Vidal, Pedro, Mensah, George A, Müller-Nurasyid, Martina, Ninomiya, Toshiharu, Petkeviciene, Janina, Rodríguez-Artalejo, Fernando, Servais, Jennifer, Söderberg, Stefan, Stavreski, Bill, Wilsgaard, Tom, Zdrojewski, Tomasz, Zhao, Dong, Stevens, Gretchen A, Savin, Stefan, Cowan, Melanie J, Riley, Leanne M, Ezzati, Majid, Adams, Robert J, Ahrens, Wolfgang, Amouyel, Philippe, Amuzu, Antoinette, Anderssen, Sigmund A, Ariansen, Inger, Arveiler, Dominique, Aspelund, Thor, Auvinen, Juha, Avdicová, Mária, Banach, Maciej, Bandosz, Piotr, Banegas, José R, Barbagallo, Carlo M, Bata, Iqbal, Baur, Louise A, Beaglehole, Robert, Bernotiene, Gailute, Bi, Yufang, Bienek, Asako, Björkelund, Cecilia, Bo, Simona, Boehm, Bernhard O, Bonaccio, Marialaura, Bongard, Vanina, Borchini, Rossana, Borghs, Herman, Breckenkamp, Juergen, Brenner, Hermann, Bruno, Graziella, Busch, Markus A, Cabrera de León, Antonio, Capuano, Vincenzo, Casanueva, Felipe F, Casas, Juan-Pablo, Caserta, Carmelo A, Censi, Laura, Chen, Fangfang, Chen, Shuohua, Chirlaque, María-Dolores, Cho, Belong, Cho, Yumi, Chudek, Jerzy, Claessens, Frank, Clarke, Janine, Clays, Els, Cooper, Cyrus, Costanzo, Simona, Cottel, Dominique, Cowell, Chris, Crujeiras, Ana B, Cui, Liufu, D'Arrigo, Graziella, Dauchet, Luc, De Backer, Guy, De Bacquer, Dirk, de Gaetano, Giovanni, De Henauw, Stefaan, De Smedt, Delphine, Dennison, Elaine, Deschamps, Valérie, DiCastelnuovo, Augusto, Dobson, Annette J, Donfrancesco, Chiara

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