A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation by Polioudakis, Damon, de la Torre-Ubieta, Luis, Langerman, Justin, Elkins, Andrew G., Shi, Xu, Stein, Jason L., Vuong, Celine K., Nichterwitz, Susanne, Gevorgian, Melinda, Opland, Carli K., Lu, Daning, Connell, William, Ruzzo, Elizabeth K., Lowe, Jennifer K., Hadzic, Tarik, Hinz, Flora I., Sabri, Shan, Lowry, William E., Gerstein, Mark B., Plath, Kathrin, Geschwind, Daniel H.

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Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis by Oz-Levi, Danit, Ben-Zeev, Bruria, Ruzzo, Elizabeth K., Hitomi, Yuki, Gelman, Amir, Pelak, Kimberly, Anikster, Yair, Reznik-Wolf, Haike, Bar-Joseph, Ifat, Olender, Tsviya, Alkelai, Anna, Weiss, Meira, Ben-Asher, Edna, Ge, Dongliang, Shianna, Kevin V., Elazar, Zvulun, Goldstein, David B., Pras, Elon, Lancet, Doron

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Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes by Zhu, Mingfu, Need, Anna C., Han, Yujun, Ge, Dongliang, Maia, Jessica M., Zhu, Qianqian, Heinzen, Erin L., Cirulli, Elizabeth T., Pelak, Kimberly, He, Min, Ruzzo, Elizabeth K., Gumbs, Curtis, Singh, Abanish, Feng, Sheng, Shianna, Kevin V., Goldstein, David B.

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Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks by Ruzzo, Elizabeth K., Pérez-Cano, Laura, Jung, Jae-Yoon, Wang, Lee-kai, Kashef-Haghighi, Dorna, Hartl, Chris, Singh, Chanpreet, Xu, Jin, Hoekstra, Jackson N., Leventhal, Olivia, Leppä, Virpi M., Gandal, Michael J., Paskov, Kelley, Stockham, Nate, Polioudakis, Damon, Lowe, Jennifer K., Prober, David A., Geschwind, Daniel H., Wall, Dennis P.

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Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios by Zhu, Xiaolin, Petrovski, Slavé, Xie, Pingxing, Ruzzo, Elizabeth K, Lu, Yi-Fan, McSweeney, K Melodi, Ben-Zeev, Bruria, Nissenkorn, Andreea, Anikster, Yair, Oz-Levi, Danit, Dhindsa, Ryan S, Hitomi, Yuki, Schoch, Kelly, Spillmann, Rebecca C, Heimer, Gali, Marek-Yagel, Dina, Tzadok, Michal, Han, Yujun, Worley, Gordon, Goldstein, Jennifer, Jiang, Yong-Hui, Lancet, Doron, Pras, Elon, Shashi, Vandana, McHale, Duncan, Need, Anna C, Goldstein, David B

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The contributions of rare inherited and polygenic risk to ASD in multiplex families by Cirnigliaro, Matilde, Chang, Timothy S, Arteaga, Stephanie A, Pérez-Cano, Laura, Ruzzo, Elizabeth K, Gordon, Aaron, Bicks, Lucy K, Jung, Jae-Yoon, Lowe, Jennifer K, Wall, Dennis P, Geschwind, Daniel H

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Noncoding deletions reveal a gene that is critical for intestinal function by Oz-Levi, Danit, Olender, Tsviya, Bar-Joseph, Ifat, Zhu, Yiwen, Marek-Yagel, Dina, Barozzi, Iros, Osterwalder, Marco, Alkelai, Anna, Ruzzo, Elizabeth K, Han, Yujun, Vos, Erica S M, Reznik-Wolf, Haike, Hartman, Corina, Shamir, Raanan, Weiss, Batia, Shapiro, Rivka, Pode-Shakked, Ben, Tatarskyy, Pavlo, Milgrom, Roni, Schvimer, Michael, Barshack, Iris, Imai, Denise M, Coleman-Derr, Devin, Dickel, Diane E, Nord, Alex S, Afzal, Veena, van Bueren, Kelly Lammerts, Barnes, Ralston M, Black, Brian L, Mayhew, Christopher N, Kuhar, Matthew F, Pitstick, Amy, Tekman, Mehmet, Stanescu, Horia C, Wells, James M, Kleta, Robert, de Laat, Wouter, Goldstein, David B, Pras, Elon, Visel, Axel, Lancet, Doron, Anikster, Yair, Pennacchio, Len A

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Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy by 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.

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SVA: software for annotating and visualizing sequenced human genomes by Ge, Dongliang, Ruzzo, Elizabeth K., Shianna, Kevin V., He, Min, Pelak, Kimberly, Heinzen, Erin L., Need, Anna C., Cirulli, Elizabeth T., Maia, Jessica M., Dickson, Samuel P., Zhu, Mingfu, Singh, Abanish, Allen, Andrew S., Goldstein, David B.

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TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability by Heimer, Gali, Oz-Levi, Danit, Eyal, Eran, Edvardson, Shimon, Nissenkorn, Andreea, Ruzzo, Elizabeth K, Szeinberg, Amir, Maayan, Channa, Mai-Zahav, Meir, Efrati, Ori, Pras, Elon, Reznik-Wolf, Haike, Lancet, Doron, Goldstein, David B, Anikster, Yair, Shalev, Stavit A, Elpeleg, Orly, Ben Zeev, Bruria

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Modifier genetics in neuropsychiatric disease: challenges and opportunities by Ruzzo, Elizabeth K, Pappas, Andrea L, Goldstein, David B

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Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy by Landsverk, Megan L., Ruzzo, Elizabeth K., Mefford, Heather C., Buysse, Karen, Buchan, Jillian G., Eichler, Evan E., Petty, Elizabeth M., Peterson, Esther A., Knutzen, Dana M., Barnett, Karen, Farlow, Martin R., Caress, Judy, Parry, Gareth J., Quan, Dianna, Gardner, Kathy L., Hong, Ming, Simmons, Zachary, Bird, Thomas D., Chance, Phillip F., Hannibal, Mark C.

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The characterization of twenty sequenced human genomes by 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

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Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy by Ruzzo, Elizabeth K., Capo-Chichi, José-Mario, Ben-Zeev, Bruria, Chitayat, David, Mao, Hanqian, Pappas, Andrea L., Hitomi, Yuki, Lu, Yi-Fan, Yao, Xiaodi, Hamdan, Fadi F., Pelak, Kimberly, Reznik-Wolf, Haike, Bar-Joseph, Ifat, Oz-Levi, Danit, Lev, Dorit, Lerman-Sagie, Tally, Leshinsky-Silver, Esther, Anikster, Yair, Ben-Asher, Edna, Olender, Tsviya, Colleaux, Laurence, Décarie, Jean-Claude, Blaser, Susan, Banwell, Brenda, Joshi, Rasesh B., He, Xiao-Ping, Patry, Lysanne, Silver, Rachel J., Dobrzeniecka, Sylvia, Islam, Mohammad S., Hasnat, Abul, Samuels, Mark E., Aryal, Dipendra K., Rodriguiz, Ramona M., Jiang, Yong-hui, Wetsel, William C., McNamara, James O., Rouleau, Guy A., Silver, Debra L., Lancet, Doron, Pras, Elon, Mitchell, Grant A., Michaud, Jacques L., Goldstein, David B.

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Noncoding Deletions Expose a Novel Gene Critical for Intestinal Function by Oz-Levi, Danit, Olender, Tsviya, Bar-Joseph, Ifat, Zhu, Yiwen, Marek-Yagel, Dina, Barozzi, Iros, Osterwalder, Marco, Alkelai, Anna, Ruzzo, Elizabeth K., Han, Yujun, Vos, Erica S. M., Reznik-Wolf, Haike, Hartman, Corina, Shamir, Raanan, Weiss, Batia, Shapiro, Rivka, Pode-Shakked, Ben, Tatarskyy, Pavlo, Milgrom, Roni, Schvimer, Michael, Barshack, Iris, Imai, Denise M., Coleman-Derr, Devin, Dickel, Diane E., Nord, Alex S., Afzal, Veena, van Bueren, Kelly Lammerts, Barnes, Ralston M., Black, Brian L., Mayhew, Christopher N., Kuhar, Matthew F., Pitstick, Amy, Tekman, Mehmet, Stanescu, Horia C., Wells, James M., Kleta, Robert, de Laat, Wouter, Goldstein, David B., Pras, Elon, Visel, Axel, Lancet, Doron, Anikster, Yair, Pennacchio, Len A.

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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies by Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Lerche, Holger, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Palotie, Aarno, Pendziwiat, Manuela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Abou-Khalil, Bassel, Andermann, Eva, Andermann, Frederick, Amrom, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Scheffer, Ingrid E., Shellhaas, Renée A., Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sullivan, Joe, Venkat, Anu, Vining, Eileen P.G., Von Allmen, Gretchen K., Weisenberg, Judith L., Winawer, Melodie R., Allen, Andrew S., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Goldstein, David B., Han, Yujun, Heinzen, Erin L., Johnson, Michael R., Marson, Anthony G., Mefford, Heather C., Nieh, Sahar Esmaeeli, O’Brien, Terence J., Petrovski, Slavé, Ruzzo, Elizabeth K.

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The Characterization of Twenty Sequenced Human Genomes: e1001111 by 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

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An integrative genomic approach identifies p73 and p63 as activators of miR-200 microRNA family transcription by Knouf, Emily C., Garg, Kavita, Arroyo, Jason D., Correa, Yesenia, Sarkar, Deepayan, Parkin, Rachael K., Wurz, Kaitlyn, O'Briant, Kathy C., Godwin, Andrew K., Urban, Nicole D., Ruzzo, Walter L., Gentleman, Robert, Drescher, Charles W., Swisher, Elizabeth M., Tewari, Muneesh

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Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes by Feliciano, Pamela, Zhou, Xueya, Astrovskaya, Irina, Turner, Tychele N, Wang, Tianyun, Brueggeman, Leo, Barnard, Rebecca, Hsieh, Alexander, Snyder, LeeAnne Green, Muzny, Donna M, Sabo, Aniko, Gibbs, Richard A, Eichler, Evan E, O'Roak, Brian J, Michaelson, Jacob J, Volfovsky, Natalia, Shen, Yufeng, Chung, Wendy K

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