PAPA-1 Is a Nuclear Binding Partner of IGFBP-2 and Modulates Its Growth-Promoting Actions

per Miyako, Kenichi, Cobb, Laura J., Francis, Malik, Huang, Alden, Peng, Bonnie, Pintar, John E., Ariga, Hiroyoshi, Cohen, Pinchas
Publicat 2009

Transcriptome Profiling of Peripheral Blood in 22q11.2 Deletion Syndrome Reveals Functional Pathways Related to Psychosis and Autism Spectrum Disorder

per Jalbrzikowski, Maria, Lazaro, Maria T., Gao, Fuying, Huang, Alden, Chow, Carolyn, Geschwind, Daniel H., Coppola, Giovanni, Bearden, Carrie E.
Publicat a PLoS One (2015)

Mutations In Rare Ataxia Genes Are Uncommon Causes of Sporadic Cerebellar Ataxia

per Fogel, Brent L., Lee, Ji Yong, Lane, Jessica, Wahnich, Amanda, Chan, Sandy, Huang, Alden, Osborn, Greg E., Klein, Eric, Mamah, Catherine, Perlman, Susan, Geschwind, Daniel H., Coppola, Giovanni
Publicat 2012

Disseminated Coccidioidomycosis Treated with Interferon-γ and Dupilumab.

per Tsai, Monica, Thauland, Timothy J., Huang, Alden Y., Bun, Chantana, Fitzwater, Sean, Krogstad, Paul, Douine, Emilie D., Nelson, Stanley F., Lee, Hane, Garcia-Lloret, Maria I., Butte, Manish J.
Publicat a N Engl J Med (2020)

Activity-Dependent Regulation of Alternative Cleavage and Polyadenylation During Hippocampal Long-Term Potentiation

per Fontes, Mariana M., Guvenek, Aysegul, Kawaguchi, Riki, Zheng, Dinghai, Huang, Alden, Ho, Victoria M., Chen, Patrick B., Liu, Xiaochuan, O’Dell, Thomas J., Coppola, Giovanni, Tian, Bin, Martin, Kelsey C.
Publicat a Sci Rep (2017)

Neurodegenerative disease biomarkers Aβ(1–40), Aβ(1–42), tau, and p‐tau(181) in the vervet monkey cerebrospinal fluid: Relation to normal aging, genetic influences, and cerebral am...

per Chen, Jason A., Fears, Scott C., Jasinska, Anna J., Huang, Alden, Al‐Sharif, Noor B., Scheibel, Kevin E., Dyer, Thomas D., Fagan, Anne M., Blangero, John, Woods, Roger, Jorgensen, Matthew J., Kaplan, Jay R., Freimer, Nelson B., Coppola, Giovanni
Publicat a Brain Behav (2018)

Genetic screen in a large series of patients with primary progressive aphasia

per Ramos, Eliana Marisa, Dokuru, Deepika Reddy, Van Berlo, Victoria, Wojta, Kevin, Wang, Qing, Huang, Alden Y., Miller, Zachary A., Karydas, Anna M., Bigio, Eileen H., Rogalski, Emily, Weintraub, Sandra, Rader, Benjamin, Miller, Bruce L., Gorno-Tempini, Maria Luisa, Mesulam, Marek-Marsel, Coppola, Giovanni
Publicat a Alzheimers Dement (2019)

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

per Willsey, A. Jeremy, Fernandez, Thomas V., Yu, Dongmei, King, Robert A., Dietrich, Andrea, Xing, Jinchuan, Sanders, Stephan J., Mandell, Jeffrey D., Huang, Alden Y., Richer, Petra, Smith, Louw, Dong, Shan, Samocha, Kaitlin E., Neale, Benjamin M., Coppola, Giovanni, Mathews, Carol A., Tischfield, Jay A., Scharf, Jeremiah M., State, Matthew W., Heiman, Gary A.
Publicat a Neuron (2017)

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

per Kobren, Shilpa Nadimpalli, Baldridge, Dustin, Velinder, Matt, Krier, Joel B., LeBlanc, Kimberly, Esteves, Cecilia, Pusey, Barbara N., Züchner, Stephan, Blue, Elizabeth, Lee, Hane, Huang, Alden, Bastarache, Lisa, Bican, Anna, Cogan, Joy, Marwaha, Shruti, Alkelai, Anna, Murdock, David R., Liu, Pengfei, Wegner, Daniel J., Paul, Alexander J., Sunyaev, Shamil R., Kohane, Isaac S.
Publicat a Genet Med (2021)

Familial Cortical Myoclonus with a Mutation in NOL3

per Russell, Jonathan F., Steckley, Jamie L., Coppola, Giovanni, Hahn, Angelika F.G., Howard, MacKenzie A., Kornberg, Zachary, Huang, Alden, Mirsattari, Seyed M., Merriman, Barry, Klein, Eric, Choi, Murim, Lee, Hsien-Yang, Kirk, Andrew, Nelson-Williams, Carol, Gibson, Gillian, Baraban, Scott C., Lifton, Richard P., Geschwind, Daniel H., Fu, Ying-Hui, Ptáček, Louis J.
Publicat 2012

Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases

per Chen, Jason A., Chen, Zhongbo, Won, Hyejung, Huang, Alden Y., Lowe, Jennifer K., Wojta, Kevin, Yokoyama, Jennifer S., Bensimon, Gilbert, Leigh, P. Nigel, Payan, Christine, Shatunov, Aleksey, Jones, Ashley R., Lewis, Cathryn M., Deloukas, Panagiotis, Amouyel, Philippe, Tzourio, Christophe, Dartigues, Jean-Francois, Ludolph, Albert, Boxer, Adam L., Bronstein, Jeff M., Al-Chalabi, Ammar, Geschwind, Daniel H., Coppola, Giovanni
Publicat a Mol Neurodegener (2018)

Frontotemporal dementia spectrum: first genetic screen in a Greek cohort

per Ramos, Eliana Marisa, Koros, Christos, Dokuru, Deepika Reddy, Van Berlo, Victoria, Kroupis, Christos, Wojta, Kevin, Wang, Qing, Andronas, Nikolaos, Matsi, Stavroula, Beratis, Ion N., Huang, Alden Y., Lee, Suzee E., Bonakis, Anastasios, Florou-Hatziyiannidou, Chryseis, Fragkiadaki, Stella, Kontaxopoulou, Dionysia, Agiomyrgiannakis, Dimitrios, Kamtsadeli, Vasiliki, Tsinia, Niki, Papastefanopoulou, Vasiliki, Stamelou, Maria, Miller, Bruce L., Stefanis, Leonidas, Papatriantafyllou, John D., Papageorgiou, Sokratis G., Coppola, Giovanni
Publicat a Neurobiol Aging (2018)

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

per Wang, Sheng, Mandell, Jeffrey D., Kumar, Yogesh, Sun, Nawei, Morris, Montana T., Arbelaez, Juan, Nasello, Cara, Dong, Shan, Duhn, Clif, Zhao, Xin, Yang, Zhiyu, Padmanabhuni, Shanmukha S., Yu, Dongmei, King, Robert A., Dietrich, Andrea, Khalifa, Najah, Dahl, Niklas, Huang, Alden Y., Neale, Benjamin M., Coppola, Giovanni, Mathews, Carol A., Fernandez, Thomas V., Buxbaum, Joseph D., De Rubeis, Silvia, Grice, Dorothy E., Xing, Jinchuan, Heiman, Gary A., Tischfield, Jay A., Paschou, Peristera, Willsey, A. Jeremy, State, Matthew W.
Publicat a Cell Rep (2018)

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

per Lee, Hane, Huang, Alden Y., Wang, Lee-kai, Yoon, Amanda J., Renteria, Genecee, Eskin, Ascia, Signer, Rebecca H., Dorrani, Naghmeh, Nieves-Rodriguez, Shirley, Wan, Jijun, Douine, Emilie D., Woods, Jeremy D., Dell’Angelica, Esteban C., Fogel, Brent L., Martin, Martin G., Butte, Manish J., Parker, Neil H., Wang, Richard T., Shieh, Perry B., Wong, Derek A., Gallant, Natalie, Singh, Kathryn E., Asher, Y. Jane Tavyev, Sinsheimer, Janet S., Krakow, Deborah, Loo, Sandra K., Allard, Patrick, Papp, Jeanette C., Palmer, Christina G. S., Martinez-Agosto, Julian A., Nelson, Stanley F.
Publicat a Genet Med (2019)

A Multiancestral Genome-Wide Exome Array Study of Alzheimer Disease, Frontotemporal Dementia, and Progressive Supranuclear Palsy

per Chen, Jason A., Wang, Qing, Davis-Turak, Jeremy, Li, Yun, Karydas, Anna M., Hsu, Sandy C., Sears, Renee L., Chatzopoulou, Doxa, Huang, Alden Y., Wojta, Kevin J., Klein, Eric, Lee, Jason, Beekly, Duane L., Boxer, Adam, Faber, Kelley M., Haase, Claudia M., Miller, Josh, Poon, Wayne W., Rosen, Ami, Rosen, Howard, Sapozhnikova, Anna, Shapira, Jill, Varpetian, Arousiak, Foroud, Tatiana M., Levenson, Robert W., Levey, Allan I., Kukull, Walter A., Mendez, Mario F., Ringman, John, Chui, Helena, Cotman, Carl, DeCarli, Charles, Miller, Bruce L., Geschwind, Daniel H., Coppola, Giovanni
Publicat a JAMA Neurol (2015)

Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates

per Sul, Jae Hoon, Service, Susan K., Huang, Alden Y., Ramensky, Vasily, Hwang, Sun-Goo, Teshiba, Terri M., Park, YoungJun, Ori, Anil P. S., Zhang, Zhongyang, Mullins, Niamh, Olde Loohuis, Loes M., Fears, Scott C., Araya, Carmen, Araya, Xinia, Spesny, Mitzi, Bejarano, Julio, Ramirez, Margarita, Castrillón, Gabriel, Gomez-Makhinson, Juliana, Lopez, Maria C., Montoya, Gabriel, Montoya, Claudia P., Aldana, Ileana, Escobar, Javier I., Ospina-Duque, Jorge, Kremeyer, Barbara, Bedoya, Gabriel, Ruiz-Linares, Andres, Cantor, Rita M., Molina, Julio, Coppola, Giovanni, Ophoff, Roel A., Macaya, Gabriel, Lopez-Jaramillo, Carlos, Reus, Victor, Bearden, Carrie E., Sabatti, Chiara, Freimer, Nelson B.
Publicat a Transl Psychiatry (2020)

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

per Hsu, Sandy Chan, Sears, Renee L., Lemos, Roberta R., Quintáns, Beatriz, Huang, Alden, Spiteri, Elizabeth, Nevarez, Lisette, Mamah, Catherine, Zatz, Mayana, Pierce, Kerrie D., Fullerton, Janice M., Adair, John C., Berner, Jon E., Bower, Matthew, Brodaty, Henry, Carmona, Olga, Dobricić, Valerija, Fogel, Brent L., García-Estevez, Daniel, Goldman, Jill, Goudreau, John L., Hopfer, Suellen, Janković, Milena, Jaumà, Serge, Jen, Joanna C., Kirdlarp, Suppachok, Klepper, Joerg, Kostić, Vladimir, Lang, Anthony E., Linglart, Agnès, Maisenbacher, Melissa K., Manyam, Bala V., Mazzoni, Pietro, Miedzybrodzka, Zofia, Mitarnun, Witoon, Mitchell, Philip B., Mueller, Jennifer, Novaković, Ivana, Paucar, Martin, Paulson, Henry, Simpson, Sheila A., Svenningsson, Per, Tuite, Paul, Vitek, Jerrold, Wetchaphanphesat, Suppachok, Williams, Charles, Yang, Michele, Schofield, Peter R., de Oliveira, João R. M., Sobrido, María-Jesús, Geschwind, Daniel H., Coppola, Giovanni
Publicat 2013

Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome

per Huang, Alden Y., Yu, Dongmei, Davis, Lea K., Sul, Jae Hoon, Tsetsos, Fotis, Ramensky, Vasily, Zelaya, Ivette, Ramos, Eliana Marisa, Osiecki, Lisa, Chen, Jason A., McGrath, Lauren M., Illmann, Cornelia, Sandor, Paul, Barr, Cathy L., Grados, Marco, Singer, Harvey S., Nöthen, Markus M., Hebebrand, Johannes, King, Robert A., Dion, Yves, Rouleau, Guy, Budman, Cathy L., Depienne, Christel, Worbe, Yulia, Hartmann, Andreas, Muller-Vahl, Kirsten R., Stuhrmann, Manfred, Aschauer, Harald, Stamenkovic, Mara, Schloegelhofer, Monika, Konstantinidis, Anastasios, Lyon, Gholson J., McMahon, William M., Barta, Csaba, Tarnok, Zsanett, Nagy, Peter, Batterson, James R., Rizzo, Renata, Cath, Danielle C., Wolanczyk, Tomasz, Berlin, Cheston, Malaty, Irene A., Okun, Michael S., Woods, Douglas W., Rees, Elliott, Pato, Carlos N., Pato, Michele T., Knowles, James A, Posthuma, Danielle, Pauls, David L., Cox, Nancy J., Neale, Benjamin M., Freimer, Nelson B., Paschou, Peristera, Mathews, Carol A., Scharf, Jeremiah M., Coppola, Giovanni
Publicat a Neuron (2017)

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

per Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y., Silva, Ana P.G., Lee, Hane, Douine, Emilie D., Otero, Maria G., Choi, Andrew, Grand, Katheryn, Taff, Ingrid P., Delgado, Mauricio R., Hajianpour, MJ, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W., Vergano, Samantha A., Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E., Challman, Thomas D., Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J., Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren D.M., Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A., Hurst, Jane, Fitzpatrick, David R., Morton, Jenny E.V., Cox, Helen, Venkateswaran, Sunita, Young, Juan I., Marsh, Eric D., Nelson, Stanley F., Martinez, Julian A., Graham, John M., Kini, Usha, Mackay, Joel P., Pierson, Tyler Mark
Publicat a Genet Med (2020)

Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases

per Ramos, Eliana Marisa, Dokuru, Deepika Reddy, Van Berlo, Victoria, Wojta, Kevin, Wang, Qing, Huang, Alden Y., Deverasetty, Sandeep, Qin, Yue, van Blitterswijk, Marka, Jackson, Jazmyne, Appleby, Brian, Bordelon, Yvette, Brannelly, Patrick, Brushaber, Danielle E., Dickerson, Bradford, Dickinson, Susan, Domoto-Reilly, Kimiko, Faber, Kelley, Fields, Julie, Fong, Jamie, Foroud, Tatiana, Forsberg, Leah K., Gavrilova, Ralitza, Ghoshal, Nupur, Goldman, Jill, Graff-Radford, Jonathan, Graff-Radford, Neill, Grant, Ian, Grossman, Murray, Heuer, Hilary W., Hsiung, Ging-Yuek R., Huey, Edward, Irwin, David, Kantarci, Kejal, Karydas, Anna, Kaufer, Daniel, Kerwin, Diana, Knopman, David, Kornak, John, Kramer, Joel H., Kremers, Walter, Kukull, Walter, Litvan, Irene, Ljubenkov, Peter, Lungu, Codrin, Mackenzie, Ian, Mendez, Mario F., Miller, Bruce L., Onyike, Chiadi, Pantelyat, Alexander, Pearlman, Rodney, Petrucelli, Len, Potter, Madeline, Rankin, Katherine P., Rascovsky, Katya, Roberson, Erik D., Rogalski, Emily, Shaw, Leslie, Syrjanen, Jeremy, Tartaglia, Maria Carmela, Tatton, Nadine, Taylor, Joanne, Toga, Arthur, Trojanowski, John Q., Weintraub, Sandra, Wong, Bonnie, Wszolek, Zbigniew, Rademakers, Rosa, Boeve, Brad F., Rosen, Howard J., Boxer, Adam L., Coppola, Giovanni
Publicat a Alzheimers Dement (2020)