Schizophrenia genetics complements its mechanistic understanding

Por Ruzzo, Elizabeth K, Geschwind, Daniel H
Publicado no Nat Neurosci (2016)

Modifier genetics in neuropsychiatric disease: challenges and opportunities

Por Ruzzo, Elizabeth K, Pappas, Andrea L, Goldstein, David B
Publicado em 2012

SVA: software for annotating and visualizing sequenced human genomes

Por 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.
Publicado em 2011

Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes

Por 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.
Publicado em 2012

Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

Por 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
Publicado em 2012

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy

Por 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.
Publicado em 2009

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Por 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.
Publicado no Genet Med (2015)

The Characterization of Twenty Sequenced Human Genomes

Por 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.
Publicado em 2010

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

Por 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.
Publicado em 2012

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

Por 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.
Publicado em 2013

Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

Por Allen, Andrew S., Berkovic, Samuel F., Coe, Bradley P., Cook, Joseph, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Eichler, Evan E., Epstein, Michael P., Glauser, Tracy, Goldstein, David B., Heinzen, Erin L., Johnson, Michael R., Krumm, Nik, Kuzniecky, Ruben, Lowenstein, Daniel H., Marson, Anthony G., Mefford, Heather C., Nelson, Ben, Esmaeeli Nieh, Sahar, O'Brien, Terence J., Ottman, Ruth, Petrou, Stephen, Petrovski, Slavé, Poduri, Annapurna, Raja, Archana, Ruzzo, Elizabeth K., Scheffer, Ingrid E., Sherr, Elliott, Abou‐Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., 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, Poduri, Annapurna, Scheffer, Ingrid E., Shellhaas, Renée A., Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P.G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess‐Walsh, Peter, Winawer, Melodie R.
Publicado no Ann Neurol (2015)