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

nork Appadurai, Vivek, DeBarber, Andrea, Chiang, Pei-Wen, Patel, Shailendra B., Steiner, Robert D, Tyler, Charles, Bonnen, Penelope E.
Argitaratua izan da 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

nork Stiles, Ashlee R., Ferdinandusse, Sacha, Besse, Arnaud, Appadurai, Vivek, Leydiker, Karen B., Cambray-Forker, E.J., Bonnen, Penelope E., Abdenur, Jose E.
Argitaratua izan da 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...

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

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

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

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

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

Shared Molecular Neuropathology Across Major Psychiatric Disorders Parallels Polygenic Overlap

nork 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.
Argitaratua izan da Focus (Am Psychiatr Publ) (2019)

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

nork 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.
Argitaratua izan da Cancer Res (2015)

Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap

nork 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.
Argitaratua izan da Science (2018)

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

nork 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
Argitaratua izan da 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

nork 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.
Argitaratua izan da Hum Genet (2020)

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

nork 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.
Argitaratua izan da Transl Psychiatry (2019)

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

nork 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
Argitaratua izan da Mol Psychiatry (2018)

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

nork 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.
Argitaratua izan da Ann Clin Transl Neurol (2016)

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

nork 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
Argitaratua izan da Nat Neurosci (2019)

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

nork 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
Argitaratua izan da Nat Commun (2019)

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

nork 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
Argitaratua izan da Am J Psychiatry (2019)