De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
HEINZEN, Erin L, SWOBODA, Kathryn J, PANAGIOTAKAKI, Eleni, FIORI, Stefania, ABIUSI, Emanuela, DI PIETRO, Lorena, SWENEY, Matthew T, NEWCOMB, Tara M, VIOLLET, Louis, HUFF, Chad, JORDE, Lynn B, REYNA, Sandra P, HITOMI, Yuki, MURPHY, Kelley J, SHIANNA, Kevin V, GUMBS, Curtis E, LITTLE, Latasha, SILVER, Kenneth, PTACEK, Louis J, HAAN, Joost, FERRARI, Michel D, BYE, Ann M, HERKES, Geoffrey K, GURRIERI, Fiorella, WHITELAW, Charlotte M, WEBB, David, LYNCH, Bryan J, ULDALL, Peter, KING, Mary D, SCHEFFER, Ingrid E, NERI, Giovanni, ARZIMANOGLOU, Alexis, VAN DEN MAAGDENBERG, Arn M. J. M, SISODIYA, Sanjay M, NICOLE, Sophie, MIKATI, Mohamad A, GOLDSTEIN, David B, DE VRIES, Boukje, TIZIANO, F. Danilo, FONTAINE, Bertrand, WALLEY, Nicole M, HEAVIN, Sinead
Published in Nature genetics (01.09.2012)
Published in Nature genetics (01.09.2012)
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The characterization of twenty sequenced human genomes
Pelak, Kimberly, Shianna, Kevin V, Ge, Dongliang, Maia, Jessica M, Zhu, Mingfu, Smith, Jason P, Cirulli, Elizabeth T, Fellay, Jacques, Dickson, Samuel P, Gumbs, Curtis E, Heinzen, Erin L, Need, Anna C, Ruzzo, Elizabeth K, Singh, Abanish, Campbell, C Ryan, Hong, Linda K, Lornsen, Katharina A, McKenzie, Alexander M, Sobreira, Nara L M, Hoover-Fong, Julie E, Milner, Joshua D, Ottman, Ruth, Haynes, Barton F, Goedert, James J, Goldstein, David B
Published in PLoS genetics (01.09.2010)
Published in PLoS genetics (01.09.2010)
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Inosine Triphosphate Protects Against Ribavirin-Induced Adenosine Triphosphate Loss by Adenylosuccinate Synthase Function
Hitomi, Yuki, Cirulli, Elizabeth T, Fellay, Jacques, McHutchison, John G, Thompson, Alexander J, Gumbs, Curtis E, Shianna, Kevin V, Urban, Thomas J, Goldstein, David B
Published in Gastroenterology (New York, N.Y. 1943) (01.04.2011)
Published in Gastroenterology (New York, N.Y. 1943) (01.04.2011)
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Exome Sequencing Followed by Large-Scale Genotyping Suggests a Limited Role for Moderately Rare Risk Factors of Strong Effect in Schizophrenia
Need, Anna C., McEvoy, Joseph P., Gennarelli, Massimo, Heinzen, Erin L., Ge, Dongliang, Maia, Jessica M., Shianna, Kevin V., He, Min, Cirulli, Elizabeth T., Gumbs, Curtis E., Zhao, Qian, Campbell, C. Ryan, Hong, Linda, Rosenquist, Peter, Putkonen, Anu, Hallikainen, Tero, Repo-Tiihonen, Eila, Tiihonen, Jari, Levy, Deborah L., Meltzer, Herbert Y., Goldstein, David B.
Published in American journal of human genetics (10.08.2012)
Published in American journal of human genetics (10.08.2012)
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ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C
Ge, Dongliang, Bertelsen, Arthur H, Watson, Mark, Goldstein, David B, Albrecht, Janice, Brass, Clifford, Warner, Amelia, Gumbs, Curtis E, Thompson, Alexander J, McHutchison, John G, Shianna, Kevin V, Qiu, Ping, Sulkowski, Mark, Little, Latasha D, Fellay, Jacques, Urban, Thomas J, Muir, Andrew J
Published in Nature (London) (18.03.2010)
Published in Nature (London) (18.03.2010)
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Common genetic variation and the control of HIV-1 in humans
Fellay, Jacques, Ge, Dongliang, Shianna, Kevin V, Colombo, Sara, Ledergerber, Bruno, Cirulli, Elizabeth T, Urban, Thomas J, Zhang, Kunlin, Gumbs, Curtis E, Smith, Jason P, Castagna, Antonella, Cozzi-Lepri, Alessandro, De Luca, Andrea, Easterbrook, Philippa, Günthard, Huldrych F, Mallal, Simon, Mussini, Cristina, Dalmau, Judith, Martinez-Picado, Javier, Miro, José M, Obel, Niels, Wolinsky, Steven M, Martinson, Jeremy J, Detels, Roger, Margolick, Joseph B, Jacobson, Lisa P, Descombes, Patrick, Antonarakis, Stylianos E, Beckmann, Jacques S, O'Brien, Stephen J, Letvin, Norman L, McMichael, Andrew J, Haynes, Barton F, Carrington, Mary, Feng, Sheng, Telenti, Amalio, Goldstein, David B
Published in PLoS genetics (01.12.2009)
Published in PLoS genetics (01.12.2009)
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Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes
Heinzen, Erin L., Radtke, Rodney A., Urban, Thomas J., Cavalleri, Gianpiero L., Depondt, Chantal, Need, Anna C., Walley, Nicole M., Nicoletti, Paola, Ge, Dongliang, Catarino, Claudia B., Duncan, John S., Kasperavičiūte˙, Dalia, Tate, Sarah K., Caboclo, Luis O., Sander, Josemir W., Clayton, Lisa, Linney, Kristen N., Shianna, Kevin V., Gumbs, Curtis E., Smith, Jason, Cronin, Kenneth D., Maia, Jessica M., Doherty, Colin P., Pandolfo, Massimo, Leppert, David, Middleton, Lefkos T., Gibson, Rachel A., Johnson, Michael R., Matthews, Paul M., Hosford, David, Kälviäinen, Reetta, Eriksson, Kai, Kantanen, Anne-Mari, Dorn, Thomas, Hansen, Jörg, Krämer, Günter, Steinhoff, Bernhard J., Wieser, Heinz-Gregor, Zumsteg, Dominik, Ortega, Marcos, Wood, Nicholas W., Huxley-Jones, Julie, Mikati, Mohamad, Gallentine, William B., Husain, Aatif M., Buckley, Patrick G., Stallings, Ray L., Podgoreanu, Mihai V., Delanty, Norman, Sisodiya, Sanjay M., Goldstein, David B.
Published in American journal of human genetics (14.05.2010)
Published in American journal of human genetics (14.05.2010)
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Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy
Heinzen, Erin L., Depondt, Chantal, Cavalleri, Gianpiero L., Ruzzo, Elizabeth K., Walley, Nicole M., Need, Anna C., Ge, Dongliang, He, Min, Cirulli, Elizabeth T., Zhao, Qian, Cronin, Kenneth D., Gumbs, Curtis E., Campbell, C. Ryan, Hong, Linda K., Maia, Jessica M., Shianna, Kevin V., McCormack, Mark, Radtke, Rodney A., O'Conner, Gerard D., Mikati, Mohamad A., Gallentine, William B., Husain, Aatif M., Sinha, Saurabh R., Chinthapalli, Krishna, Puranam, Ram S., McNamara, James O., Ottman, Ruth, Sisodiya, Sanjay M., Delanty, Norman, Goldstein, David B.
Published in American journal of human genetics (10.08.2012)
Published in American journal of human genetics (10.08.2012)
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Failure to replicate effect of kibra on human memory in two large cohorts of European origin
Need, Anna C., Attix, Deborah K., McEvoy, Jill M., Cirulli, Elizabeth T., Linney, Kristen N., Wagoner, Ana Patricia, Gumbs, Curtis E., Giegling, Ina, Möller, Hans-Jürgen, Francks, Clyde, Muglia, Pierandrea, Roses, Allen, Gibson, Greg, Weale, Mike E., Rujescu, Dan, Goldstein, David B.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.07.2008)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.07.2008)
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Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene: e1000991
Sobreira, Nara LM, Cirulli, Elizabeth T, Avramopoulos, Dimitrios, Wohler, Elizabeth, Oswald, Gretchen L, Stevens, Eric L, Ge, Dongliang, Shianna, Kevin V, Smith, Jason P, Maia, Jessica M, Gumbs, Curtis E, Pevsner, Jonathan, Thomas, George, Valle, David, Hoover-Fong, Julie E, Goldstein, David B
Published in PLoS genetics (01.06.2010)
Published in PLoS genetics (01.06.2010)
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The Characterization of Twenty Sequenced Human Genomes: e1001111
Pelak, Kimberly, Shianna, Kevin V, Ge, Dongliang, Maia, Jessica M, Zhu, Mingfu, Smith, Jason P, Cirulli, Elizabeth T, Fellay, Jacques, Dickson, Samuel P, Gumbs, Curtis E, Heinzen, Erin L, Need, Anna C, Ruzzo, Elizabeth K, Singh, Abanish, Campbell, C Ryan, Hong, Linda K, Lornsen, Katharina A, McKenzie, Alexander M, Sobreira, Nara LM, Hoover-Fong, Julie E, Milner, Joshua D, Ottman, Ruth, Haynes, Barton F, Goedert, James J, Goldstein, David B
Published in PLoS genetics (01.09.2010)
Published in PLoS genetics (01.09.2010)
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Journal Article
Common Genetic Variation and the Control of HIV-1 in Humans: e1000791
Fellay, Jacques, Ge, Dongliang, Shianna, Kevin V, Colombo, Sara, Ledergerber, Bruno, Cirulli, Elizabeth T, Urban, Thomas J, Zhang, Kunlin, Gumbs, Curtis E, Smith, Jason P, Castagna, Antonella, Cozzi-Lepri, Alessandro, Luca, Andrea De, Easterbrook, Philippa, Günthard, Huldrych F, Mallal, Simon, Mussini, Cristina, Dalmau, Judith, Martinez-Picado, Javier, Miro, José M, Obel, Niels, Wolinsky, Steven M, Martinson, Jeremy J, Detels, Roger, Margolick, Joseph B, Jacobson, Lisa P, Descombes, Patrick, Antonarakis, Stylianos E, Beckmann, Jacques S, Letvin, Norman L, McMichael, Andrew J, Haynes, Barton F, Carrington, Mary, Feng, Sheng, Telenti, Amalio, Goldstein, David B
Published in PLoS genetics (01.12.2009)
Published in PLoS genetics (01.12.2009)
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