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1. Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Author

Hitti-Malin, Rebekkah, Panneman, Daan, Corradi, Zelia, Boonen, Erica, Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard, Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek, Matynia, Anna, Gorin, Michael, Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel, Li, Catherina, Klaver, Caroline, Inglehearn, Chris, Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo, Fakin, Ana, Sajovic, Jana, AlTalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea, Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan, van den Born, L, McLaren, Terri, De Roach, John, Lamey, Tina, Thompson, Jennifer, Chen, Fred, Tracewska, Anna, Kamakari, Smaragda, Sallum, Juliana, Bolz, Hanno, Kayserili, Hülya, Roosing, Susanne, and Cremers, Frans

Subjects
inherited, macula, maculopathies, penetrance, retinal, sequencing, Humans, Mutation, Penetrance, Pedigree, Macular Degeneration, Retina, Phenotype, ATP-Binding Cassette Transporters, Eye Proteins, Cadherin Related Proteins, Nerve Tissue Proteins
Abstract

Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated genes in 1352 patients diagnosed with iMDs. Within this cohort, 39.8% of patients were considered genetically explained by 460 different variants in 49 distinct genes of which 73 were novel variants, with some affecting splicing. The top five most frequent causative genes were ABCA4 (37.2%), PRPH2 (6.7%), CDHR1 (6.1%), PROM1 (4.3%) and RP1L1 (3.1%). Interestingly, variants with incomplete penetrance were revealed in almost one-third of patients considered solved (28.1%), and therefore, a proportion of patients may not be explained solely by the variants reported. This includes eight previously reported variants with incomplete penetrance in addition to CDHR1:c.783G>A and CNGB3:c.1208G>A. Notably, segregation analysis was not routinely performed for variant phasing-a limitation, which may also impact the overall diagnostic yield. The relatively high proportion of probands without any putative causal variant (60.2%) highlights the need to explore variants with incomplete penetrance, the potential modifiers of disease and the genetic overlap between iMDs and age-related macular degeneration. Our results provide valuable insights into the genetic landscape of iMDs and warrant future exploration to determine the involvement of other maculopathy genes.

Published
2024

4. Exploratory study of ultraviolet B (UVB) radiation and age of onset of bipolar disorder

Author

Bauer, Michael, Glenn, Tasha, Achtyes, Eric D., Alda, Martin, Agaoglu, Esen, Altınbaş, Kürsat, Andreassen, Ole A., Angelopoulos, Elias, Ardau, Raffaella, Aydin, Memduha, Ayhan, Yavuz, Baethge, Christopher, Bauer, Rita, Baune, Bernhard T., Balaban, Ceylan, Becerra-Palars, Claudia, Behere, Aniruddh P., Behere, Prakash B., Belete, Habte, Belete, Tilahun, Belizario, Gabriel Okawa, Bellivier, Frank, Belmaker, Robert H., Benedetti, Francesco, Berk, Michael, Bersudsky, Yuly, Bicakci, Şule, Birabwa-Oketcho, Harriet, Bjella, Thomas D., Brady, Conan, Cabrera, Jorge, Cappucciati, Marco, Castro, Angela Marianne Paredes, Chen, Wei-Ling, Cheung, Eric Y. W., Chiesa, Silvia, Crowe, Marie, Cuomo, Alessandro, Dallaspezia, Sara, Del Zompo, Maria, Desai, Pratikkumar, Dodd, Seetal, Etain, Bruno, Fagiolini, Andrea, Fellendorf, Frederike T., Ferensztajn-Rochowiak, Ewa, Fiedorowicz, Jess G., Fountoulakis, Kostas N., Frye, Mark A., Geoffroy, Pierre A., Gitlin, Michael J., Gonzalez-Pinto, Ana, Gottlieb, John F., Grof, Paul, Haarman, Bartholomeus C. M., Harima, Hirohiko, Hasse-Sousa, Mathias, Henry, Chantal, Hoffding, Lone, Houenou, Josselin, Imbesi, Massimiliano, Isometsä, Erkki T., Ivkovic, Maja, Janno, Sven, Johnsen, Simon, Kapczinski, Flávio, Karakatsoulis, Gregory N., Kardell, Mathias, Kessing, Lars Vedel, Kim, Seong Jae, König, Barbara, Kot, Timur L., Koval, Michael, Kunz, Mauricio, Lafer, Beny, Landén, Mikael, Larsen, Erik R., Lenger, Melanie, Licht, Rasmus W., Lopez-Jaramillo, Carlos, MacKenzie, Alan, Madsen, Helle Østergaard, Madsen, Simone Alberte Kongstad A., Mahadevan, Jayant, Mahardika, Agustine, Manchia, Mirko, Marsh, Wendy, Martinez-Cengotitabengoa, Monica, Martini, Julia, Martiny, Klaus, Mashima, Yuki, McLoughlin, Declan M., Meesters, Ybe, Melle, Ingrid, Meza-Urzúa, Fátima, Mikolas, Pavol, Mok, Yee Ming, Monteith, Scott, Moorthy, Muthukumaran, Morken, Gunnar, Mosca, Enrica, Mozzhegorov, Anton A., Munoz, Rodrigo, Mythri, Starlin V., Nacef, Fethi, Nadella, Ravi K., Nakanotani, Takako, Nielsen, René Ernst, O’Donovan, Claire, Omrani, Adel, Osher, Yamima, Ouali, Uta, Pantovic-Stefanovic, Maja, Pariwatcharakul, Pornjira, Petite, Joanne, Petzold, Johannes, Pfennig, Andrea, Ruiz, Yolanda Pica, Pinna, Marco, Pompili, Maurizio, Porter, Richard J., Quiroz, Danilo, Rabelo-da-Ponte, Francisco Diego, Ramesar, Raj, Rasgon, Natalie, Ratta-apha, Woraphat, Ratzenhofer, Michaela, Redahan, Maria, Reddy, M. S., Reif, Andreas, Reininghaus, Eva Z., Richards, Jenny Gringer, Ritter, Philipp, Rybakowski, Janusz K., Sathyaputri, Leela, Scippa, Angela M., Simhandl, Christian, Smith, Daniel, Smith, José, Stackhouse, Jr, Paul W., Stein, Dan J., Stilwell, Kellen, Strejilevich, Sergio, Su, Kuan-Pin, Subramaniam, Mythily, Sulaiman, Ahmad Hatim, Suominen, Kirsi, Tanra, Andi J., Tatebayashi, Yoshitaka, Teh, Wen Lin, Tondo, Leonardo, Torrent, Carla, Tuinstra, Daniel, Uchida, Takahito, Vaaler, Arne E., Vieta, Eduard, Viswanath, Biju, Yoldi-Negrete, Maria, Yalcinkaya, Oguz Kaan, Young, Allan H., Zgueb, Yosra, and Whybrow, Peter C.

Published
2023
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7. Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting

Author

Bamshad, Michael J., Leal, Suzanne M., Nickerson, Deborah A., Anderson, Peter, Bacus, Tamara J., Blue, Elizabeth E., Brower, Katherine, Buckingham, Kati J., Chong, Jessica X., Cornejo Sánchez, Diana, Davis, Colleen P., Davis, Chayna J., Frazar, Christian D., Gomeztagle-Burgess, Katherine, Gordon, William W., Horike-Pyne, Martha, Hurless, Jameson R., Jarvik, Gail P., Johanson, Eric, Thomas Kolar, J., Marvin, Colby T., McGee, Sean, McGoldrick, Daniel J., Mekonnen, Betselote, Nielsen, Patrick M., Patterson, Karynne, Radhakrishnan, Aparna, Richardson, Matthew A., Roote, Gwendolin T., Ryke, Erica L., Schrauwen, Isabelle, Shively, Kathryn M., Smith, Joshua D., Tackett, Monica, Wang, Gao, Weiss, Jeffrey M., Wheeler, Marsha M., Yi, Qian, Zhang, Xiaohong, Esterhuizen, Alina I., Tiffin, Nicki, Riordan, Gillian, Wessels, Marie, Burman, Richard J., Aziz, Miriam C., Calhoun, Jeffrey D., Gunti, Jonathan, Amiri, Ezra E., Ramamurthy, Aishwarya, Mefford, Heather C., Ramesar, Raj, Wilmshurst, Jo M., and Carvill, Gemma L.

Published
2023
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11. Concordance of genetic variation that increases risk for Tourette Syndrome and that influences its underlying neurocircuitry

Author

Mufford, Mary, Cheung, Josh, Jahanshad, Neda, van der Merwe, Celia, Ding, Linda, Groenewold, Nynke, Koen, Nastassja, Chimusa, Emile R, Dalvie, Shareefa, Ramesar, Raj, Knowles, James A, Lochner, Christine, Hibar, Derrek P, Paschou, Peristera, van den Heuvel, Odile A, Medland, Sarah E, Scharf, Jeremiah M, Mathews, Carol A, Thompson, Paul M, and Stein, Dan J

Subjects
Biological Psychology, Psychology, Tourette Syndrome, Neurodegenerative, Genetics, Brain Disorders, Serious Mental Illness, Mental Health, Neurosciences, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Mental health, Case-Control Studies, DNA Mutational Analysis, Genetic Pleiotropy, Genetic Predisposition to Disease, Genome-Wide Association Study, Hippocampus, Humans, Linkage Disequilibrium, Magnetic Resonance Imaging, Neural Pathways, Polymorphism, Single Nucleotide, Putamen, Psychiatric Genomics Consortium - Tourette Syndrome working group, Clinical Sciences, Public Health and Health Services, Clinical sciences, Biological psychology
Abstract

There have been considerable recent advances in understanding the genetic architecture of Tourette syndrome (TS) as well as its underlying neurocircuitry. However, the mechanisms by which genetic variation that increases risk for TS-and its main symptom dimensions-influence relevant brain regions are poorly understood. Here we undertook a genome-wide investigation of the overlap between TS genetic risk and genetic influences on the volume of specific subcortical brain structures that have been implicated in TS. We obtained summary statistics for the most recent TS genome-wide association study (GWAS) from the TS Psychiatric Genomics Consortium Working Group (4644 cases and 8695 controls) and GWAS of subcortical volumes from the ENIGMA consortium (30,717 individuals). We also undertook analyses using GWAS summary statistics of key symptom factors in TS, namely social disinhibition and symmetry behaviour. SNP effect concordance analysis (SECA) was used to examine genetic pleiotropy-the same SNP affecting two traits-and concordance-the agreement in single nucelotide polymorphism (SNP) effect directions across these two traits. In addition, a conditional false discovery rate (FDR) analysis was performed, conditioning the TS risk variants on each of the seven subcortical and the intracranial brain volume GWAS. Linkage disequilibrium score regression (LDSR) was used as validation of the SECA method. SECA revealed significant pleiotropy between TS and putamen (p = 2 × 10-4) and caudate (p = 4 × 10-4) volumes, independent of direction of effect, and significant concordance between TS and lower thalamic volume (p = 1 × 10-3). LDSR lent additional support for the association between TS and thalamus volume (p = 5.85 × 10-2). Furthermore, SECA revealed significant evidence of concordance between the social disinhibition symptom dimension and lower thalamus volume (p = 1 × 10-3), as well as concordance between symmetry behaviour and greater putamen volume (p = 7 × 10-4). Conditional FDR analysis further revealed novel variants significantly associated with TS (p

Published
2019

12. Association between polarity of first episode and solar insolation in bipolar I disorder

Author

Bauer, Michael, Glenn, Tasha, Achtyes, Eric D., Alda, Martin, Agaoglu, Esen, Altınbaş, Kürşat, Andreassen, Ole A., Angelopoulos, Elias, Ardau, Raffaella, Aydin, Memduha, Ayhan, Yavuz, Baethge, Christopher, Bauer, Rita, Baune, Bernhard T., Balaban, Ceylan, Becerra-Palars, Claudia, Behere, Aniruddh P., Behere, Prakash B., Belete, Habte, Belete, Tilahun, Belizario, Gabriel Okawa, Bellivier, Frank, Belmaker, Robert H., Benedetti, Francesco, Berk, Michael, Bersudsky, Yuly, Bicakci, Şule, Birabwa-Oketcho, Harriet, Bjella, Thomas D., Brady, Conan, Cabrera, Jorge, Cappucciati, Marco, Castro, Angela Marianne Paredes, Chen, Wei-Ling, Cheung, Eric Y.W., Chiesa, Silvia, Crowe, Marie, Cuomo, Alessandro, Dallaspezia, Sara, Del Zompo, Maria, Desai, Pratikkumar, Dodd, Seetal, Etain, Bruno, Fagiolini, Andrea, Fellendorf, Frederike T., Ferensztajn-Rochowiak, Ewa, Fiedorowicz, Jess G., Fountoulakis, Kostas N., Frye, Mark A., Geoffroy, Pierre A., Gonzalez-Pinto, Ana, Gottlieb, John F., Grof, Paul, Haarman, Bartholomeus C.M., Harima, Hirohiko, Hasse-Sousa, Mathias, Henry, Chantal, Høffding, Lone, Houenou, Josselin, Imbesi, Massimiliano, Isometsä, Erkki T., Ivkovic, Maja, Janno, Sven, Johnsen, Simon, Kapczinski, Flávio, Karakatsoulis, Gregory N., Kardell, Mathias, Kessing, Lars Vedel, Kim, Seong Jae, König, Barbara, Kot, Timur L., Koval, Michael, Kunz, Mauricio, Lafer, Beny, Landén, Mikael, Larsen, Erik R., Lenger, Melanie, Lewitzka, Ute, Licht, Rasmus W., Lopez-Jaramillo, Carlos, MacKenzie, Alan, Madsen, Helle Østergaard, Madsen, Simone Alberte Kongstad A., Mahadevan, Jayant, Mahardika, Agustine, Manchia, Mirko, Marsh, Wendy, Martinez-Cengotitabengoa, Monica, Martiny, Klaus, Mashima, Yuki, McLoughlin, Declan M., Meesters, Ybe, Melle, Ingrid, Meza-Urzúa, Fátima, Mok, Yee Ming, Monteith, Scott, Moorthy, Muthukumaran, Morken, Gunnar, Mosca, Enrica, Mozzhegorov, Anton A., Munoz, Rodrigo, Mythri, Starlin V., Nacef, Fethi, Nadella, Ravi K., Nakanotani, Takako, Nielsen, René Ernst, O'Donovan, Claire, Omrani, Adel, Osher, Yamima, Ouali, Uta, Pantovic-Stefanovic, Maja, Pariwatcharakul, Pornjira, Petite, Joanne, Pfennig, Andrea, Ruiz, Yolanda Pica, Pinna, Marco, Pompili, Maurizio, Porter, Richard, Quiroz, Danilo, Rabelo-da-Ponte, Francisco Diego, Ramesar, Raj, Rasgon, Natalie, Ratta-apha, Woraphat, Ratzenhofer, Michaela, Redahan, Maria, Reddy, M.S., Reif, Andreas, Reininghaus, Eva Z., Richards, Jenny Gringer, Ritter, Philipp, Rybakowski, Janusz K., Sathyaputri, Leela, Scippa, Ângela M., Simhandl, Christian, Smith, Daniel, Smith, José, Stackhouse, Paul W., Jr., Stein, Dan J., Stilwell, Kellen, Strejilevich, Sergio, Su, Kuan-Pin, Subramaniam, Mythily, Sulaiman, Ahmad Hatim, Suominen, Kirsi, Tanra, Andi J., Tatebayashi, Yoshitaka, Teh, Wen Lin, Tondo, Leonardo, Torrent, Carla, Tuinstra, Daniel, Uchida, Takahito, Vaaler, Arne E., Vieta, Eduard, Viswanath, Biju, Yoldi-Negrete, Maria, Yalcinkaya, Oguz Kaan, Young, Allan H., Zgueb, Yosra, and Whybrow, Peter C.

Published
2022
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14. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

Author

Win, Aung Ko, Dowty, James G., Reece, Jeanette C., Lee, Grant, Templeton, Allyson S., Plazzer, John-Paul, Buchanan, Daniel D., Akagi, Kiwamu, Aksoy, Seçil, Alonso, Angel, Alvarez, Karin, Amor, David J., Ankathil, Ravindran, Aretz, Stefan, Arnold, Julie L., Aronson, Melyssa, Austin, Rachel, Backman, Ann-Sofie, Bajwa-ten Broeke, Sanne W., Barca-Tierno, Verónica, Barwell, Julian, Bernstein, Inge, Berthet, Pascaline, Betz, Beate, Bignon, Yves-Jean, Boisjoli, Talya, Bonadona, Valérie, Briollais, Laurent, Brunet, Joan, Bucksch, Karolin, Buecher, Bruno, Buettner, Reinhard, Burn, John, Caldés, Trinidad, Capella, Gabriel, Caron, Olivier, Casey, Graham, Chew, Min H., Choi, Yun-hee, Church, James, Clendenning, Mark, Colas, Chrystelle, Cops, Elisa J., Coupier, Isabelle, Cruz-Correa, Marcia, de la Chapelle, Albert, de Wind, Niels, Dębniak, Tadeusz, Della Valle, Adriana, Delnatte, Capuccine, Dhooge, Marion, Dominguez-Valentin, Mev, Drouet, Youenn, Duijkers, Floor A., Engel, Christoph, Esperon, Patricia, Evans, D. Gareth, Falcón de Vargas, Aída, Figueiredo, Jane C, Foulkes, William, Fourme, Emmanuelle, Frebourg, Thierry, Gallinger, Steven, Garre, Pilar, Genuardi, Maurizio, Gerdes, Anne-Marie, Gima, Lauren M., Giraud, Sophie, Goodwin, Annabel, Görgens, Heike, Green, Kate, Guillem, Jose, Guillén-Ponce, Carmen, Guimbaud, Roselyne, Guindalini, Rodrigo S.C., Half, Elizabeth E., Hall, Michael J, Hampel, Heather, Hansen, Thomas V.O., Heinimann, Karl, Hes, Frederik J., Hill, James, Ho, Judy W.C., Holinski-Feder, Elke, Hoogerbrugge, Nicoline, Hüneburg, Robert, Huntley, Vanessa, James, Paul A., Jensen, Uffe B, John, Thomas, Juhari, Wan K.W., Kalady, Matthew, Kastrinos, Fay, Kloor, Matthias, Kohonen-Corish, Maija RJ, Krogh, Lotte N., Kupfer, Sonia S., Ladabaum, Uri, Lagerstedt-Robinson, Kristina, Lalloo, Fiona, Lasset, Christine, Latchford, Andrew, Laurent-Puig, Pierre, Lautrup, Charlotte K., Leggett, Barbara A., Lejeune, Sophie, LeMarchand, Loic, Ligtenberg, Marjolijn, Lindor, Noralane, Loeffler, Markus, Longy, Michel, Lopez, Francisco, Lowery, Jan, Lubiński, Jan, Lucassen, Anneke M, Lynch, Patrick M., Malińska, Karolina, Matsubara, Nagahide, Mecklin, Jukka-Pekka, Møller, Pål, Monahan, Kevin, Morrison, Patrick J., Nattermann, Jacob, Navarro, Matilde, Neffa, Florencia, Neklason, Deborah, Newcomb, Polly A., Ngeow, Joanne, Nichols, Cassandra, Nielsen, Maartje, Nixon, Dawn M., Nogues, Catherine, Okkels, Henrik, Olschwang, Sylviane, Pachter, Nicholas, Pai, Rish K., Palmero, Edenir I., Pande, Mala, Parry, Susan, Patel, Swati G., Pearlman, Rachel, Perne, Claudia, Pineda, Marta, Poplawski, Nicola K, Pylvänäinen, Kirsi, Qiu, Jay, Rahner, Nils, Ramesar, Raj, Rasmussen, Lene J., Redler, Silke, Reis, Rui M., Ricciardiello, Luigi, Rogoża-Janiszewska, Emilia, Rosty, Christophe, Samadder, N. Jewel, Sampson, Julian R., Schackert, Hans K., Schmiegel, Wolff, Schulmann, Karsten, Schuster, Helène, Scott, Rodney, Senter, Leigha, Seppälä, Toni T, Shtoyerman, Rakefet, Sijmons, Rolf H., Snyder, Carrie, Solomon, Ilana B., Soto, Jose Luis, Southey, Melissa C., Spigelman, Allan, Spirandelli, Florencia, Spurdle, Amanda B., Steinke-Lange, Verena, Stoffel, Elena M., Strassburg, Christian P., Sunde, Lone, Susman, Rachel, Syngal, Sapna, Tanakaya, Kohji, Tezcan, Gülçin, Therkildsen, Christina, Thibodeau, Steve, Tomita, Naohiro, Tucker, Katherine M., Tunca, Berrin, Turchetti, Daniela, Uhrhammer, Nancy, Utsunomiya, Joji, Vaccaro, Carlos, van Duijnhoven, Fränzel J.B., van Wanzeele, Meghan J., Vangala, Deepak B., Vasen, Hans F.A., von Knebel Doeberitz, Magnus, von Salomé, Jenny, Wadt, Karin A.W., Ward, Robyn L., Weitz, Jürgen, Weitzel, Jeffrey N., Williams, Heinric, Winship, Ingrid, Wise, Paul E., Wods, Julie, Woods, Michael O., Yamaguchi, Tatsuro, Zachariae, Silke, Zahary, Mohd N., Hopper, John L., Haile, Robert W., Macrae, Finlay A., Möslein, Gabriela, and Jenkins, Mark A.

Published
2021
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17. Update on Inherited Retinal Disease in South Africa: Encouraging Diversity in Molecular Genetics

Author

Roberts, Lisa, Rebello, George, Greenberg, Jacquie, Ramesar, Raj, Crusio, Wim E., Series Editor, Lambris, John D., Series Editor, Radeke, Heinfried H., Series Editor, Rezaei, Nima, Series Editor, Bowes Rickman, Catherine, editor, Grimm, Christian, editor, Anderson, Robert E., editor, Ash, John D., editor, LaVail, Matthew M., editor, and Hollyfield, Joe G., editor

Published
2019
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18. Elevated Plasma Complement Factors in CRB1-associated Inherited Retinal Dystrophies

Author

Moekotte, Lude, primary, Boer, Joke H., additional, Hiddingh, Sanne, additional, Ligt, Aafke, additional, Nguyen, Xuan-Thanh-An, additional, Hoyng, Carel B., additional, Inglehearn, Chris F., additional, McKibbin, Martin, additional, Lamey, Tina M., additional, Thompson, Jennifer A., additional, Chen, Fred K., additional, McLaren, Terri L., additional, AlTalbishi, Alaa, additional, Panneman, Daan M., additional, Boonen, Erica G.M., additional, Banfi, Sandro, additional, Bocquet, Beatrice, additional, Meunier, Isabelle, additional, Baere, Elfride, additional, Koenekoop, Robert, additional, Oldak, Monika, additional, Rivolta, Carlo, additional, Roberts, Lisa, additional, Ramesar, Raj, additional, Strupaite-Sileikiene, Rasa, additional, Kohl, Susanne, additional, Farrar, G. Jane, additional, Vugt, Marion, additional, Setten, Jessica, additional, Roosing, Susanne, additional, Born, L. Ingeborgh, additional, Boon, Camiel J.F., additional, Genderen, Maria M., additional, and Kuiper, Jonas J.W., additional

Published
2023
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19. Variations in seasonal solar insolation are associated with a history of suicide attempts in bipolar I disorder

Author

Bauer, Michael, Glenn, Tasha, Achtyes, Eric D., Alda, Martin, Agaoglu, Esen, Altınbaş, Kürşat, Andreassen, Ole A., Angelopoulos, Elias, Ardau, Raffaella, Vares, Edgar Arrua, Aydin, Memduha, Ayhan, Yavuz, Baethge, Christopher, Bauer, Rita, Baune, Bernhard T., Balaban, Ceylan, Becerra-Palars, Claudia, Behere, Aniruddh P., Behere, Prakash B., Belete, Habte, Belete, Tilahun, Belizario, Gabriel Okawa, Bellivier, Frank, Belmaker, Robert H., Benedetti, Francesco, Berk, Michael, Bersudsky, Yuly, Bicakci, Şule, Birabwa-Oketcho, Harriet, Bjella, Thomas D., Brady, Conan, Cabrera, Jorge, Cappucciati, Marco, Castro, Angela Marianne Paredes, Chen, Wei-Ling, Cheung, Eric Y. Wo, Chiesa, Silvia, Crowe, Marie, Cuomo, Alessandro, Dallaspezia, Sara, Del Zompo, Maria, Desai, Pratikkumar, Dodd, Seetal, Donix, Markus, Etain, Bruno, Fagiolini, Andrea, Fellendorf, Frederike T., Ferensztajn-Rochowiak, Ewa, Fiedorowicz, Jess G., Fountoulakis, Kostas N., Frye, Mark A., Geoffroy, Pierre A., Gonzalez-Pinto, Ana, Gottlieb, John F., Grof, Paul, Haarman, Bartholomeus C. M., Harima, Hirohiko, Hasse-Sousa, Mathias, Henry, Chantal, Høffding, Lone, Houenou, Josselin, Imbesi, Massimiliano, Isometsä, Erkki T., Ivkovic, Maja, Janno, Sven, Johnsen, Simon, Kapczinski, Flávio, Karakatsoulis, Gregory N., Kardell, Mathias, Kessing, Lars Vedel, Kim, Seong Jae, König, Barbara, Kot, Timur L., Koval, Michael, Kunz, Mauricio, Lafer, Beny, Landén, Mikael, Larsen, Erik R., Lenger, Melanie, Lewitzka, Ute, Licht, Rasmus W., Lopez-Jaramillo, Carlos, MacKenzie, Alan, Madsen, Helle Østergaard, Madsen, Simone Alberte Kongstad A., Mahadevan, Jayant, Mahardika, Agustine, Manchia, Mirko, Marsh, Wendy, Martinez-Cengotitabengoa, Monica, Martiny, Klaus, Mashima, Yuki, McLoughlin, Declan M., Meesters, Ybe, Melle, Ingrid, Meza-Urzúa, Fátima, Ming, Mok Yee, Monteith, Scott, Moorthy, Muthukumaran, Morken, Gunnar, Mosca, Enrica, Mozzhegorov, Anton A., Munoz, Rodrigo, Mythri, Starlin V., Nacef, Fethi, Nadella, Ravi K., Nakanotani, Takako, Nielsen, René Ernst, O‘Donovan, Claire, Omrani, Adel, Osher, Yamima, Ouali, Uta, Pantovic-Stefanovic, Maja, Pariwatcharakul, Pornjira, Petite, Joanne, Pfennig, Andrea, Ruiz, Yolanda Pica, Pilhatsch, Maximilian, Pinna, Marco, Pompili, Maurizio, Porter, Richard, Quiroz, Danilo, Rabelo-da-Ponte, Francisco Diego, Ramesar, Raj, Rasgon, Natalie, Ratta-apha, Woraphat, Ratzenhofer, Michaela, Redahan, Maria, Reddy, M. S., Reif, Andreas, Reininghaus, Eva Z., Richards, Jenny Gringer, Ritter, Philipp, Rybakowski, Janusz K., Sathyaputri, Leela, Scippa, Ângela M., Simhandl, Christian, Severus, Emanuel, Smith, Daniel, Smith, José, Stackhouse, Jr., Paul W., Stein, Dan J., Stilwell, Kellen, Strejilevich, Sergio, Su, Kuan-Pin, Subramaniam, Mythily, Sulaiman, Ahmad Hatim, Suominen, Kirsi, Tanra, Andi J., Tatebayashi, Yoshitaka, Teh, Wen Lin, Tondo, Leonardo, Torrent, Carla, Tuinstra, Daniel, Uchida, Takahito, Vaaler, Arne E., Veeh, Julia, Vieta, Eduard, Viswanath, Biju, Yoldi-Negrete, Maria, Yalcinkaya, Oguz Kaan, Young, Allan H., Zgueb, Yosra, and Whybrow, Peter C.

Published
2021
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22. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Author

Khan, Mubeen, Cornelis, Stéphanie S., Pozo-Valero, Marta Del, Whelan, Laura, Runhart, Esmee H., Mishra, Ketan, Bults, Femke, AlSwaiti, Yahya, AlTalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J. F., van den Born, L. Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian, Dudakova, Lubica, Fakin, Ana, Farrar, G. Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian, Glavač, Damjan, Gorin, Michael B., Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M., Hoischen, Alexander, Hoyng, Carel B., Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C. W., Kousal, Bohdan, Lamey, Tina M., MacDonald, Ian M., Matynia, Anna, McLaren, Terri L., Mena, Marcela D., Meunier, Isabelle, Miller, Rianne, Newman, Hadas, Ntozini, Buhle, Oldak, Monika, Pieterse, Marc, Podhajcer, Osvaldo L., Puech, Bernard, Ramesar, Raj, Rüther, Klaus, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloes, Szaflik, Jacek P., Thompson, Jennifer A., Thuillier, Caroline, Tracewska, Anna M., van Zweeden, Martine, Vincent, Andrea L., Zanlonghi, Xavier, Liskova, Petra, Stöhr, Heidi, Roach, John N. De, Ayuso, Carmen, Roberts, Lisa, Weber, Bernhard H. F., Dhaenens, Claire‐Marie, and Cremers, Frans P. M.

Published
2020
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23. Association between solar insolation and a history of suicide attempts in bipolar I disorder

Author

Bauer, Michael, Glenn, Tasha, Alda, Martin, Andreassen, Ole A., Angelopoulos, Elias, Ardau, Raffaella, Ayhan, Yavuz, Baethge, Christopher, Bauer, Rita, Baune, Bernhard T., Becerra-Palars, Claudia, Bellivier, Frank, Belmaker, Robert H., Berk, Michael, Bersudsky, Yuly, Bicakci, Şule, Birabwa-Oketcho, Harriet, Bjella, Thomas D., Cabrera, Jorge, Wo Cheung, Eric Y., Del Zompo, Maria, Dodd, Seetal, Donix, Markus, Etain, Bruno, Fagiolini, Andrea, Fountoulakis, Kostas N., Frye, Mark A., Gonzalez-Pinto, Ana, Gottlieb, John F., Grof, Paul, Harima, Hirohiko, Henry, Chantal, Isometsä, Erkki T., Janno, Sven, Kapczinski, Flávio, Kardell, Mathias, Khaldi, Slim, Kliwicki, Sebastian, König, Barbara, Kot, Timur L., Krogh, Rikke, Kunz, Mauricio, Lafer, Beny, Landén, Mikael, Larsen, Erik R., Lewitzka, Ute, Licht, Rasmus W., Lopez-Jaramillo, Carlos, MacQueen, Glenda, Manchia, Mirko, Marsh, Wendy, Martinez-Cengotitabengoa, Mónica, Melle, Ingrid, Meza-Urzúa, Fátima, Ming, Mok Yee, Monteith, Scott, Morken, Gunnar, Mosca, Enrica, Mozzhegorov, Anton A., Munoz, Rodrigo, Mythri, Starlin V., Nacef, Fethi, Nadella, Ravi K., Nery, Fabiano G., Nielsen, René E., O'Donovan, Claire, Omrani, Adel, Osher, Yamima, Sørensen, Helle Østermark, Ouali, Uta, Ruiz, Yolanda Pica, Pilhatsch, Maximilian, Pinna, Marco, da Ponte, Francisco D.R., Quiroz, Danilo, Ramesar, Raj, Rasgon, Natalie, Reddy, M.S., Reif, Andreas, Ritter, Philipp, Rybakowski, Janusz K., Sagduyu, Kemal, Raghuraman, Bharathram Sathur, Scippa, Ângela M., Severus, Emanuel, Simhandl, Christian, Stackhouse, Paul W., Jr., Stein, Dan J., Strejilevich, Sergio, Subramaniam, Mythily, Sulaiman, Ahmad Hatim, Suominen, Kirsi, Tagata, Hiromi, Tatebayashi, Yoshitaka, Tondo, Leonardo, Torrent, Carla, Vaaler, Arne E., Vares, Edgar, Veeh, Julia, Vieta, Eduard, Viswanath, Biju, Yoldi-Negrete, Maria, Zetin, Mark, Zgueb, Yosra, and Whybrow, Peter C.

Published
2019
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26. The African Society of Human Genetics successfully launches global data science workshops

Author

Nembaware, Victoria, primary, Bennett, Declan, additional, Chimusa, Emile R., additional, Chikowore, Tinashe, additional, Daodu, Richard, additional, Bitoungui, Valential Ngo, additional, Williams, Scott M., additional, Fatumo, Segun, additional, Healy, Sandra, additional, Seoighe, Cathal, additional, Wonkam, Ambroise, additional, Landouré, Guida, additional, Ndiaye, Rokhaya, additional, Dandara, Collet, additional, Mutesa, Leon, additional, Ramsay, Michele, additional, El-Kamah, Ghada, additional, Sirugo, Giorgio, additional, Makani, Julie, additional, Sadki, Khalid, additional, Alimohamed, Mohamed Zahir, additional, Nkya, Siana, additional, Gaye, Amadou, additional, Ramesar, Raj, additional, Choudhury, Ananyo, additional, Happi, Christian, additional, Munung, Nchangwi Syntia, additional, Kherji, Nadia, additional, Hotchkiss, Jade, additional, Ras, Verena, additional, Ghansay, Anita, additional, Musanabaganwa, Clarisse, additional, Esoh, Kevin Kum, additional, Adadey, Samuel Mawuli, additional, and Coughlan, Simone Christina, additional

Published
2023
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27. Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations

Author

Mackay, Donna S, Borman, Arundhati Dev, Sui, Ruifang, Born, L Ingeborgh, Berson, Eliot L, Ocaka, Louise A, Davidson, Alice E, Heckenlively, John R, Branham, Kari, Ren, Huanan, Lopez, Irma, Maria, Maleeha, Azam, Maleeha, Henkes, Arjen, Blokland, Ellen, Group, LCA5 Study, Andreasson, Sten, Baere, Elfride, Bennett, Jean, Chader, Gerald J, Berger, Wolfgang, Golovleva, Irina, Greenberg, Jacquie, Hollander, Anneke I, Klaver, Caroline CW, Klevering, B Jeroen, Lorenz, Birgit, Preising, Markus N, Ramesar, Raj, Roberts, Lisa, Roepman, Ronald, Rohrschneider, Klaus, Wissinger], Bernd, Qamar, Raheel, Webster, Andrew R, Cremers, Frans PM, Moore, Anthony T, and Koenekoop, Robert K

Subjects
Eye Disease and Disorders of Vision, Neurosciences, Clinical Research, Genetics, Neurodegenerative, Pediatric, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Eye, Adolescent, Adult, Alleles, Child, Child, Preschool, Consanguinity, Eye Proteins, Female, Fluorescein Angiography, Genetic Association Studies, Genotype, Humans, Infant, Infant, Newborn, Leber Congenital Amaurosis, Male, Microtubule-Associated Proteins, Middle Aged, Mutation, Pedigree, Phenotype, Retina, Retinitis Pigmentosa, Young Adult, [LCA5 Study Group, LCA, LCA5, RP, blindness, lebercilin, retinal dystrophy, Clinical Sciences, Genetics & Heredity
Abstract

This study was undertaken to investigate the prevalence of sequence variants in LCA5 in patients with Leber congenital amaurosis (LCA), early-onset retinal dystrophy (EORD), and autosomal recessive retinitis pigmentosa (arRP); to delineate the ocular phenotypes; and to provide an overview of all published LCA5 variants in an online database. Patients underwent standard ophthalmic evaluations after providing informed consent. In selected patients, optical coherence tomography (OCT) and fundus autofluorescence imaging were possible. DNA samples from 797 unrelated patients with LCA and 211 with the various types of retinitis pigmentosa (RP) were screened by Sanger sequence analysis of all LCA5 exons and intron/exon junctions. Some LCA patients were prescreened by APEX technology or selected based on homozygosity mapping. In silico analyses were performed to assess the pathogenicity of the variants. Segregation analysis was performed where possible. Published and novel LCA5 variants were collected, amended for their correct nomenclature, and listed in a Leiden Open Variation Database (LOVD). Sequence analysis identified 18 new probands with 19 different LCA5 variants. Seventeen of the 19 LCA5 variants were novel. Except for two missense variants and one splice site variant, all variants were protein-truncating mutations. Most patients expressed a severe phenotype, typical of LCA. However, some LCA subjects had better vision and intact inner segment/outer segment (IS/OS) junctions on OCT imaging. In two families with LCA5 variants, the phenotype was more compatible with EORD with affected individuals displaying preserved islands of retinal pigment epithelium. One of the families with a milder phenotype harbored a homozygous splice site mutation; a second family was found to have a combination of a stop mutation and a missense mutation. This is the largest LCA5 study to date. We sequenced 1,008 patients (797 with LCA, 211 with arRP) and identified 18 probands with LCA5 mutations. Mutations in LCA5 are a rare cause of childhood retinal dystrophy accounting for ∼2% of disease in this cohort, and the majority of LCA5 mutations are likely null. The LCA5 protein truncating mutations are predominantly associated with LCA. However, in two families with the milder EORD, the LCA5 gene analysis revealed a homozygous splice site mutation in one and a stop mutation in combination with a missense mutation in a second family, suggesting that this milder phenotype is due to residual function of lebercilin and expanding the currently known phenotypic spectrum to include the milder early onset RP. Some patients have remaining foveal cone structures (intact IS/OS junctions on OCT imaging) and remaining visual acuities, which may bode well for upcoming treatment trials.

Published
2013

28. Determining Ancestry Proportions in Complex Admixture Scenarios in South Africa Using a Novel Proxy Ancestry Selection Method

Author

Chimusa, Emile R, Daya, Michelle, Möller, Marlo, Ramesar, Raj, Henn, Brenna M, van Helden, Paul D, Mulder, Nicola J, and Hoal, Eileen G

Subjects
Genetics, Human Genome, Genetics, Population, Genome, Human, Genotype, Humans, South Africa, General Science & Technology
Abstract

Admixed populations can make an important contribution to the discovery of disease susceptibility genes if the parental populations exhibit substantial variation in susceptibility. Admixture mapping has been used successfully, but is not designed to cope with populations that have more than two or three ancestral populations. The inference of admixture proportions and local ancestry and the imputation of missing genotypes in admixed populations are crucial in both understanding variation in disease and identifying novel disease loci. These inferences make use of reference populations, and accuracy depends on the choice of ancestral populations. Using an insufficient or inaccurate ancestral panel can result in erroneously inferred ancestry and affect the detection power of GWAS and meta-analysis when using imputation. Current algorithms are inadequate for multi-way admixed populations. To address these challenges we developed PROXYANC, an approach to select the best proxy ancestral populations. From the simulation of a multi-way admixed population we demonstrate the capability and accuracy of PROXYANC and illustrate the importance of the choice of ancestry in both estimating admixture proportions and imputing missing genotypes. We applied this approach to a complex, uniquely admixed South African population. Using genome-wide SNP data from over 764 individuals, we accurately estimate the genetic contributions from the best ancestral populations: isiXhosa [Formula: see text], ‡Khomani SAN [Formula: see text], European [Formula: see text], Indian [Formula: see text], and Chinese [Formula: see text]. We also demonstrate that the ancestral allele frequency differences correlate with increased linkage disequilibrium in the South African population, which originates from admixture events rather than population bottlenecks.NomenclatureThe collective term for people of mixed ancestry in southern Africa is "Coloured," and this is officially recognized in South Africa as a census term, and for self-classification. Whilst we acknowledge that some cultures may use this term in a derogatory manner, these connotations are not present in South Africa, and are certainly not intended here.

Published
2013

34. Healthcare Utilization 12 Months Prior to Fatal and Non-fatal Suicidal Behaviour in Cape Town, South Africa.

Author

Kootbodien, Tahira, Bantjes, Jason, Joska, John, Asmal, Laila, Chiliza, Bonginkosi, Stallones, Lorann, Holtman, Zelda, Martin, Lorna J., Ramesar, Raj S., and London, Leslie

Subjects
MENTAL health services, HEALTH facilities, SUICIDAL behavior, SUICIDE prevention, MEDICAL care, SUICIDE statistics, SELF-poisoning
Abstract

The purpose of this study was to characterize healthcare use for general care and mental health one year before suicidal behavior among individuals with fatal and non-fatal suicidal behavior (NFSB) in Cape Town, South Africa. We linked electronic health records of 484 participants from a case series of 93 completed suicides on whom forensic autopsies were performed at a mortuary in Cape Town, between August 2014 and January 2016; and 391 patients admitted to hospital following NFSB between June 2014 and March 2015, and between August 2015 and August 2017. Time from last healthcare visit to date of suicidal behavior (fatal or non-fatal) was calculated, and Kaplan Meier curves were used to compare the differences by psychiatric diagnoses and study group. Overall, 64.5% of completed suicides and 65.9% of NFSB patients sought general healthcare in the year before suicidal behavior. Most of these visits occurred at hospital outpatient clinics (40.8%) and primary healthcare facilities (31.3%). The prevalence of preexisting psychiatric diagnoses and the use of mental healthcare services was lower for individuals who completed suicide compared to NFSB patients. Common reasons for a healthcare visit among individuals who completed suicide were chronic disease and assault; and psychiatric illness (depression, bipolar, and/or substance use disorders), chronic disease and HIV among NFSB patients. A large proportion of individuals with fatal and NFSB interacted with the healthcare system before suicidal behavior. These findings suggest opportunities for suicide prevention at primary healthcare facilities, antiretroviral treatment centers and emergency departments. Healthcare access is common among individuals with fatal and NFSB in the year before suicidal behavior. The prevalence of mental disorder diagnoses is higher among NFSB patients than among individuals who completed suicide. A greater proportion of NFSB patients accessed mental healthcare services compared to individuals who completed suicide. [ABSTRACT FROM AUTHOR]

Published
2024
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37. The African Society of Human Genetics successfully launches global data science workshops

Author

Landouré, Guida, Ndiaye, Rokhaya, Dandara, Collet, Mutesa, Leon, Ramsay, Michele, El-Kamah, Ghada, Sirugo, Giorgio, Makani, Julie, Sadki, Khalid, Alimohamed, Mohamed Zahir, Nkya, Siana, Gaye, Amadou, Ramesar, Raj, Choudhury, Ananyo, Happi, Christian, Munung, Nchangwi Syntia, Kherji, Nadia, Hotchkiss, Jade, Ras, Verena, Ghansay, Anita, Musanabaganwa, Clarisse, Esoh, Kevin Kum, Adadey, Samuel Mawuli, Coughlan, Simone Christina, Nembaware, Victoria, Bennett, Declan, Chimusa, Emile R., Chikowore, Tinashe, Daodu, Richard, Bitoungui, Valentina Ngo, Williams, Scott M., Fatumo, Segun, Healy, Sandra, Seoighe, Cathal, and Wonkam, Ambroise

Published
2023
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39. Supplementary Figure from Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up

Author

Mathers, John C., primary, Elliott, Faye, primary, Macrae, Finlay, primary, Mecklin, Jukka-Pekka, primary, Möslein, Gabriela, primary, McRonald, Fiona E., primary, Bertario, Lucio, primary, Evans, D. Gareth, primary, Gerdes, Anne-Marie, primary, Ho, Judy W.C., primary, Lindblom, Annika, primary, Morrison, Patrick J., primary, Rashbass, Jem, primary, Ramesar, Raj S., primary, Seppälä, Toni T., primary, Thomas, Huw J.W., primary, Sheth, Harsh J., primary, Pylvänäinen, Kirsi, primary, Reed, Lynn, primary, Borthwick, Gillian M., primary, Bishop, D. Timothy, primary, and Burn, John, primary

Published
2023
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40. Data from Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up

Author

Mathers, John C., primary, Elliott, Faye, primary, Macrae, Finlay, primary, Mecklin, Jukka-Pekka, primary, Möslein, Gabriela, primary, McRonald, Fiona E., primary, Bertario, Lucio, primary, Evans, D. Gareth, primary, Gerdes, Anne-Marie, primary, Ho, Judy W.C., primary, Lindblom, Annika, primary, Morrison, Patrick J., primary, Rashbass, Jem, primary, Ramesar, Raj S., primary, Seppälä, Toni T., primary, Thomas, Huw J.W., primary, Sheth, Harsh J., primary, Pylvänäinen, Kirsi, primary, Reed, Lynn, primary, Borthwick, Gillian M., primary, Bishop, D. Timothy, primary, and Burn, John, primary

Published
2023
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43. Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting

Author

Esterhuizen, Alina I., primary, Tiffin, Nicki, additional, Riordan, Gillian, additional, Wessels, Marie, additional, Burman, Richard J., additional, Aziz, Miriam C., additional, Calhoun, Jeffrey D., additional, Gunti, Jonathan, additional, Amiri, Ezra E., additional, Ramamurthy, Aishwarya, additional, Bamshad, Michael J., additional, Mefford, Heather C., additional, Ramesar, Raj, additional, Wilmshurst, Jo M., additional, Carvill, Gemma L., additional, Leal, Suzanne M., additional, Nickerson, Deborah A., additional, Anderson, Peter, additional, Bacus, Tamara J., additional, Blue, Elizabeth E., additional, Brower, Katherine, additional, Buckingham, Kati J., additional, Chong, Jessica X., additional, Cornejo Sánchez, Diana, additional, Davis, Colleen P., additional, Davis, Chayna J., additional, Frazar, Christian D., additional, Gomeztagle-Burgess, Katherine, additional, Gordon, William W., additional, Horike-Pyne, Martha, additional, Hurless, Jameson R., additional, Jarvik, Gail P., additional, Johanson, Eric, additional, Thomas Kolar, J., additional, Marvin, Colby T., additional, McGee, Sean, additional, McGoldrick, Daniel J., additional, Mekonnen, Betselote, additional, Nielsen, Patrick M., additional, Patterson, Karynne, additional, Radhakrishnan, Aparna, additional, Richardson, Matthew A., additional, Roote, Gwendolin T., additional, Ryke, Erica L., additional, Schrauwen, Isabelle, additional, Shively, Kathryn M., additional, Smith, Joshua D., additional, Tackett, Monica, additional, Wang, Gao, additional, Weiss, Jeffrey M., additional, Wheeler, Marsha M., additional, Yi, Qian, additional, and Zhang, Xiaohong, additional

Published
2023
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46. Influence of light exposure during early life on the age of onset of bipolar disorder

Author

Bauer, Michael, Glenn, Tasha, Alda, Martin, Andreassen, Ole A., Angelopoulos, Elias, Ardau, Raffaella, Baethge, Christopher, Bauer, Rita, Baune, Bernhard T., Bellivier, Frank, Belmaker, Robert H., Berk, Michael, Bjella, Thomas D., Bossini, Letizia, Bersudsky, Yuly, Wo Cheung, Eric Yat, Conell, Jörn, Del Zompo, Maria, Dodd, Seetal, Etain, Bruno, Fagiolini, Andrea, Frye, Mark A., Fountoulakis, Kostas N., Garneau-Fournier, Jade, Gonzalez-Pinto, Ana, Gottlieb, John F., Harima, Hirohiko, Hassel, Stefanie, Henry, Chantal, Iacovides, Apostolos, Isometsä, Erkki T., Kapczinski, Flávio, Kliwicki, Sebastian, König, Barbara, Krogh, Rikke, Kunz, Mauricio, Lafer, Beny, Larsen, Erik R., Lewitzka, Ute, Lopez-Jaramillo, Carlos, MacQueen, Glenda, Manchia, Mirko, Marsh, Wendy, Martinez-Cengotitabengoa, Mónica, Melle, Ingrid, Monteith, Scott, Morken, Gunnar, Munoz, Rodrigo, Nery, Fabiano G., O'Donovan, Claire, Osher, Yamima, Pfennig, Andrea, Quiroz, Danilo, Ramesar, Raj, Rasgon, Natalie, Reif, Andreas, Ritter, Philipp, Rybakowski, Janusz K., Sagduyu, Kemal, Miranda- Scippa, Ângela, Severus, Emanuel, Simhandl, Christian, Stein, Dan J., Strejilevich, Sergio, Sulaiman, Ahmad Hatim, Suominen, Kirsi, Tagata, Hiromi, Tatebayashi, Yoshitaka, Torrent, Carla, Vieta, Eduard, Viswanath, Biju, Wanchoo, Mihir J., Zetin, Mark, and Whybrow, Peter C.

Published
2015
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47. Rationale, Design, and the Baseline Characteristics of the RHDGen (The Genetics of Rheumatic Heart Disease) Network Study†

Author

Machipisa, Tafadzwa, primary, Chishala, Chishala, additional, Shaboodien, Gasnat, additional, Zühlke, Liesl J., additional, Muhamed, Babu, additional, Pandie, Shahiemah, additional, Vries, Jantina de, additional, Laing, Nakita, additional, Joachim, Alexia, additional, Daniels, Rezeen, additional, Ntsekhe, Mpiko, additional, Hugo-Hamman, Christopher T., additional, Gitura, Bernard, additional, Ogendo, Stephen, additional, Lwabi, Peter, additional, Okello, Emmy, additional, Damasceno, Albertino, additional, Novela, Celia, additional, Mocumbi, Ana O., additional, Madeira, Geoffrey, additional, Musuku, John, additional, Mtaja, Agnes, additional, ElSayed, Ahmed, additional, Alhassan, Huda H.M., additional, Bode-Thomas, Fidelia, additional, Yilgwan, Christopher, additional, Amusa, Ganiyu, additional, Nkereuwem, Esin, additional, Mulder, Nicola, additional, Ramesar, Raj, additional, Lesosky, Maia, additional, Cordell, Heather J., additional, Chong, Michael, additional, Keavney, Bernard, additional, Paré, Guillaume, additional, Engel, Mark E., additional, Mayosi, Bongani M, additional, Mayosi, B M, additional, El Sayed, A, additional, Mondo, C, additional, Ogah, O, additional, Cupido, B, additional, Pepeta, L, additional, Auala, T, additional, Brinkman, C, additional, Sikwaya, L, additional, Omulo, Tom, additional, Fabula, A, additional, Abdelhalim, A, additional, Alhajapo, H, additional, Idris, E, additional, Salih, S, additional, Okeahialam, B, additional, Danbauchi, S, additional, Ige, O, additional, de Vries, J, additional, Francis, V, additional, Gili, F., additional, Kraba, P, additional, Vergotine, R., additional, Kamuli, S, additional, Pearce, L, additional, Saaiman, J, additional, Faure, M, additional, Masiye, F, additional, Matshabane, O P, additional, Munung, N S, additional, Ditta, R, additional, Hodge, A, additional, Awases, A, additional, Bock, A, additional, Nzuza, S, additional, Mangami, C, additional, Amanyanga, H, additional, Mneumbo, A, additional, Kitoleko, S, additional, Kebba, J, additional, Machava, M, additional, Govo, V, additional, Marcaulay, OA, additional, Badung, D, additional, and Durojaiye-Amodu, C, additional

Published
2022
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48. Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects

Author

Saacks, Nicole A., primary, Eales, James, additional, Spracklen, Timothy F., additional, Aldersley, Thomas, additional, Human, Paul, additional, Verryn, Mark, additional, Lawrenson, John, additional, Cupido, Blanche, additional, Comitis, George, additional, De Decker, Rik, additional, Fourie, Barend, additional, Swanson, Lenise, additional, Joachim, Alexia, additional, Brooks, Andre, additional, Ramesar, Raj, additional, Shaboodien, Gasnat, additional, Keavney, Bernard D., additional, and Zühlke, Liesl J., additional

Published
2022
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