Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes

Autor Appadurai, Vivek, DeBarber, Andrea, Chiang, Pei-Wen, Patel, Shailendra B., Steiner, Robert D, Tyler, Charles, Bonnen, Penelope E.
Vydáno v Mol Genet Metab (2015)

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh’s disease

Autor Stiles, Ashlee R., Ferdinandusse, Sacha, Besse, Arnaud, Appadurai, Vivek, Leydiker, Karen B., Cambray-Forker, E.J., Bonnen, Penelope E., Abdenur, Jose E.
Vydáno v Mol Genet Metab (2015)

O4.6. GENOME-WIDE ASSOCIATION STUDY, HERITABILITY ESTIMATION AND POLYGENIC RISK ANALYSIS OF SUSCEPTIBILITY TO INFECTIONS IN 65,534 INDIVIDUALS WITH SEVERE MENTAL DISORDERS AND POPU...

Autor Benros, Michael, Nudel, Ron, Wang, Yunpeng, Appadurai, Vivek, Schork, Andrew, Agerbo, Esben, Werge, Thomas, Nordentoft, Merete, Mortensen, Preben, Buil, Alfonso, Thompson, Wesley
Vydáno v Schizophr Bull (2018)

Association Between GLP-1 Receptor Gene Polymorphisms with Reward Learning, Anhedonia, and Depression Diagnosis

Autor Eser, Hale Yapici, Appadurai, Vivek, Eren, Candan Yasemin, Yazici, Dilek, Chen, Chia-Yen, Ongur, Dost, Pizzagalli, Diego A., Werge, Thomas, Hall, Mei-Hua
Vydáno v Acta Neuropsychiatr (2020)

Loss‐of‐function mutations in ISCA2 disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion

Autor Alaimo, Joseph T., Besse, Arnaud, Alston, Charlotte L., Pang, Ki, Appadurai, Vivek, Samanta, Monisha, Smpokou, Patroula, McFarland, Robert, Taylor, Robert W., Bonnen, Penelope E.
Vydáno v Hum Mutat (2018)

Shared Molecular Neuropathology Across Major Psychiatric Disorders Parallels Polygenic Overlap

Autor Gandal, Michael J., Haney, Jillian R., Parikshak, Neelroop N., Leppa, Virpi, Ramaswami, Gokul, Hartl, Chris, Schork, Andrew J., Appadurai, Vivek, Buil, Alfonso, Werge, Thomas M., Liu, Chunyu, White, Kevin P., Geschwind, Daniel H.
Vydáno v Focus (Am Psychiatr Publ) (2019)

Identification of Variant-Specific Functions of PIK3CA by Rapid Phenotyping of Rare Mutations

Autor Dogruluk, Turgut, Tsang, Yiu Huen, Espitia, Maribel, Chen, Fengju, Chen, Tenghui, Chong, Zechen, Appadurai, Vivek, Dogruluk, Armel, Eterovic, Agna Karina, Bonnen, Penelope E., Creighton, Chad J., Chen, Ken, Mills, Gordon B., Scott, Kenneth L.
Vydáno v Cancer Res (2015)

Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap

Autor Gandal, Michael J., Haney, Jillian R., Parikshak, Neelroop N., Leppa, Virpi, Ramaswami, Gokul, Hartl, Chris, Schork, Andrew J., Appadurai, Vivek, Buil, Alfonso, Werge, Thomas M., Liu, Chunyu, White, Kevin P., Horvath, Steve, Geschwind, Daniel H.
Vydáno v Science (2018)

Spatial fine-mapping for gene-by-environment effects identifies risk hot spots for schizophrenia

Autor Fan, Chun Chieh, McGrath, John J., Appadurai, Vivek, Buil, Alfonso, Gandal, Michael J., Schork, Andrew J., Mortensen, Preben Bo, Agerbo, Esben, Geschwind, Sandy A., Geschwind, Daniel, Werge, Thomas, Thompson, Wesley K., Pedersen, Carsten Bøcker
Vydáno v Nat Commun (2018)

A large population-based investigation into the genetics of susceptibility to gastrointestinal infections and the link between gastrointestinal infections and mental illness

Autor Nudel, Ron, Appadurai, Vivek, Schork, Andrew J., Buil, Alfonso, Bybjerg-Grauholm, Jonas, Børglum, Anders D., Daly, Mark J., Mors, Ole, Hougaard, David M., Mortensen, Preben Bo, Werge, Thomas, Nordentoft, Merete, Thompson, Wesley K., Benros, Michael E.
Vydáno v Hum Genet (2020)

A large-scale genomic investigation of susceptibility to infection and its association with mental disorders in the Danish population

Autor Nudel, Ron, Wang, Yunpeng, Appadurai, Vivek, Schork, Andrew J., Buil, Alfonso, Agerbo, Esben, Bybjerg-Grauholm, Jonas, Børglum, Anders D., Daly, Mark J., Mors, Ole, Hougaard, David M., Mortensen, Preben B., Werge, Thomas, Nordentoft, Merete, Thompson, Wesley K., Benros, Michael E.
Vydáno v Transl Psychiatry (2019)

Genetics of suicide attempts in individuals with and without mental disorders: a population-based genome-wide association study

Autor Erlangsen, Annette, Appadurai, Vivek, Wang, Yunpeng, Turecki, Gustavo, Mors, Ole, Werge, Thomas, Mortensen, Preben B., Starnawska, Anna, Børglum, Anders D., Schork, Andrew, Nudel, Ron, Bækvad-Hansen, Marie, Bybjerg-Grauholm, Jonas, Hougaard, David M., Thompson, Wesley K., Nordentoft, Merete, Agerbo, Esben
Vydáno v Mol Psychiatry (2018)

POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism

Autor Van Maldergem, Lionel, Besse, Arnaud, De Paepe, Boel, Blakely, Emma L., Appadurai, Vivek, Humble, Margaret M., Piard, Juliette, Craig, Kate, He, Langping, Hella, Pierre, Debray, François‐Guillaume, Martin, Jean‐Jacques, Gaussen, Marion, Laloux, Patrice, Stevanin, Giovanni, Van Coster, Rudy, Taylor, Robert W., Copeland, William C., Mormont, Eric, Bonnen, Penelope E.
Vydáno v Ann Clin Transl Neurol (2016)

A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment

Autor Schork, Andrew J., Won, Hyejung, Appadurai, Vivek, Nudel, Ron, Gandal, Mike, Delaneau, Olivier, Christiansen, Malene Revsbech, Hougaard, David M., Bækved-Hansen, Marie, Bybjerg-Grauholm, Jonas, Pedersen, Marianne Giørtz, Agerbo, Esben, Pedersen, Carsten Bøcker, Neale, Benjamin M., Daly, Mark J., Wray, Naomi R., Nordentoft, Merete, Mors, Ole, Børglum, Anders D., Mortensen, Preben Bo, Buil, Alfonso, Thompson, Wesley K., Geschwind, Daniel, Werge, Thomas
Vydáno v Nat Neurosci (2019)

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration

Autor Liu, Xueping, Helenius, Dorte, Skotte, Line, Beaumont, Robin N., Wielscher, Matthias, Geller, Frank, Juodakis, Julius, Mahajan, Anubha, Bradfield, Jonathan P., Lin, Frederick T. J., Vogelezang, Suzanne, Bustamante, Mariona, Ahluwalia, Tarunveer S., Pitkänen, Niina, Wang, Carol A., Bacelis, Jonas, Borges, Maria C., Zhang, Ge, Bedell, Bruce A., Rossi, Robert M., Skogstrand, Kristin, Peng, Shouneng, Thompson, Wesley K., Appadurai, Vivek, Lawlor, Debbie A., Kalliala, Ilkka, Power, Christine, McCarthy, Mark I., Boyd, Heather A., Marazita, Mary L., Hakonarson, Hakon, Hayes, M. Geoffrey, Scholtens, Denise M., Rivadeneira, Fernando, Jaddoe, Vincent W. V., Vinding, Rebecca K., Bisgaard, Hans, Knight, Bridget A., Pahkala, Katja, Raitakari, Olli, Helgeland, Øyvind, Johansson, Stefan, Njølstad, Pål R., Fadista, João, Schork, Andrew J., Nudel, Ron, Miller, Daniel E., Chen, Xiaoting, Weirauch, Matthew T., Mortensen, Preben Bo, Børglum, Anders D., Nordentoft, Merete, Mors, Ole, Hao, Ke, Ryckman, Kelli K., Hougaard, David M., Kottyan, Leah C., Pennell, Craig E., Lyytikainen, Leo-Pekka, Bønnelykke, Klaus, Vrijheid, Martine, Felix, Janine F., Lowe, William L., Grant, Struan F. A., Hyppönen, Elina, Jacobsson, Bo, Jarvelin, Marjo-Riitta, Muglia, Louis J., Murray, Jeffrey C., Freathy, Rachel M., Werge, Thomas M., Melbye, Mads, Buil, Alfonso, Feenstra, Bjarke
Vydáno v Nat Commun (2019)

Genome-wide association study of suicide attempt in psychiatric disorders identifies association with major depression polygenic risk scores

Autor Mullins, Niamh, Bigdeli, Tim B., Børglum, Anders D, Coleman, Jonathan R I, Demontis, Ditte, Fanous, Ayman H., Mehta, Divya, Power, Robert A., Ripke, Stephan, Stahl, Eli A, Starnawska, Anna, Anjorin, Adebayo, Corvin, Aiden, Sanders, Alan R, Forstner, Andreas J, Reif, Andreas, Koller, Anna C, Świątkowska, Beata, Baune, Bernhard T, Müller-Myhsok, Bertram, Konte, Bettina, Penninx, Brenda WJH, Pato, Carlos, Zai, Clement, Rujescu, Dan, Hougaard, David M, Quested, Digby, Levinson, Douglas F, Binder, Elisabeth B, Byrne, Enda M, Agerbo, Esben, Streit, Fabian, Mayoral, Fermin, Bellivier, Frank, Degenhardt, Franziska, Breen, Gerome, Morken, Gunnar, Turecki, Gustavo, Rouleau, Guy A, Grabe, Hans J, Völzke, Henry, Jones, Ian, Giegling, Ina, Agartz, Ingrid, Melle, Ingrid, Lawrence, Jacob, Potash, James B, Walters, James TR, Strohmaier, Jana, Shi, Jianxin, Hauser, Joanna, Biernacka, Joanna M, Vincent, John B, Kelsoe, John, Strauss, John S, Lissowska, Jolanta, Pimm, Jonathan, Smoller, Jordan W, Guzman Parra, José, Berger, Klaus, Scott, Laura J, Jones, Lisa A, Azevedo, M. Helena, Trzaskowski, Maciej, Kogevinas, Manolis, Rietschel, Marcella, Boks, Marco, Ising, Marcus, Grigoroiu-Serbanescu, Maria, Hamshere, Marian L, Leboyer, Marion, Frye, Mark, Nöthen, Markus M, Alda, Martin, Preisig, Martin, Nordentoft, Merete, Boehnke, Michael, O’Donovan, Michael C, Owen, Michael J, Pato, Michele T, Renteria, Miguel, Budde, Monika, Weissman, Myrna M, Wray, Naomi R, Bass, Nicholas, Craddock, Nicholas, Smeland, Olav B, Andreassen, Ole A, Mors, Ole, Gejman, Pablo V, Sklar, Pamela, McGrath, Patrick, Hoffmann, Per, McGuffin, Peter, Lee, Phil H, Mortensen, Preben Bo, Kahn, René S, Ophoff, Roel A, Adolfsson, Rolf, Van der Auwera, Sandra, Djurovic, Srdjan, Shyn, Stanley I, Kloiber, Stefan, Heilmann-Heimbach, Stefanie, Jamain, Stéphane, Hamilton, Steven P, McElroy, Susan L, Lucae, Susanne, Cichon, Sven, Schulze, Thomas G, Hansen, Thomas, Werge, Thomas, Air, Tracy M, Nimgaonkar, Vishwajit, Appadurai, Vivek, Cahn, Wiepke, Milaneschi, Yuri, Kendler, Kenneth S, McQuillin, Andrew, Lewis, Cathryn M
Vydáno v Am J Psychiatry (2019)