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

by Appadurai, Vivek, DeBarber, Andrea, Chiang, Pei-Wen, Patel, Shailendra B., Steiner, Robert D, Tyler, Charles, Bonnen, Penelope E.
Published in 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

by Stiles, Ashlee R., Ferdinandusse, Sacha, Besse, Arnaud, Appadurai, Vivek, Leydiker, Karen B., Cambray-Forker, E.J., Bonnen, Penelope E., Abdenur, Jose E.
Published in 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...

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

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

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

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

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

Shared Molecular Neuropathology Across Major Psychiatric Disorders Parallels Polygenic Overlap

by 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.
Published in Focus (Am Psychiatr Publ) (2019)

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

by 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.
Published in Cancer Res (2015)

Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap

by 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.
Published in Science (2018)

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

by 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
Published in 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

by 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.
Published in Hum Genet (2020)

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

by 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.
Published in Transl Psychiatry (2019)

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

by 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
Published in Mol Psychiatry (2018)

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

by 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.
Published in Ann Clin Transl Neurol (2016)

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

by 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
Published in Nat Neurosci (2019)

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

by 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
Published in Nat Commun (2019)

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

by 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
Published in Am J Psychiatry (2019)