Natural Selection Shapes Codon Usage in the Human Genome

由 Dhindsa, Ryan S., Copeland, Brett R., Mustoe, Anthony M., Goldstein, David B.
發表在 Am J Hum Genet (2020)

Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance

由 Hayeck, Tristan J., Stong, Nicholas, Wolock, Charles J., Copeland, Brett, Kamalakaran, Sitharthan, Goldstein, David B., Allen, Andrew S.
發表在 Am J Hum Genet (2019)

Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics

由 Gussow, Ayal B., Copeland, Brett R., Dhindsa, Ryan S., Wang, Quanli, Petrovski, Slavé, Majoros, William H., Allen, Andrew S., Goldstein, David B.
發表在 PLoS One (2017)

Correction: Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics

由 Gussow, Ayal B., Copeland, Brett R., Dhindsa, Ryan S., Wang, Quanli, Petrovski, Slavé, Majoros, William H., Allen, Andrew S., Goldstein, David B.
發表在 PLoS One (2018)

An AKT3-FOXG1-Reelin Network Underlies Defective Migration in Human Focal Malformations of Cortical Development

由 Baek, Seung Tae, Copeland, Brett, Yun, Eun-Jin, Kwon, Seok-Kyu, Guemez-Gamboa, Alicia, Schaffer, Ashleigh E., Kim, Sangwoo, Kang, Hoon-Chul, Song, Saera, Mathern, Gary W., Gleeson, Joseph G.
發表在 Nat Med (2015)

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

由 Zhu, Xiaolin, Padmanabhan, Raghavendra, Copeland, Brett, Bridgers, Joshua, Ren, Zhong, Kamalakaran, Sitharthan, O'Driscoll-Collins, Ailbhe, Berkovic, Samuel F., Scheffer, Ingrid E., Poduri, Annapurna, Mei, Davide, Guerrini, Renzo, Lowenstein, Daniel H., Allen, Andrew S., Heinzen, Erin L., Goldstein, David B.
發表在 PLoS Genet (2017)

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

由 De Mori, Roberta, Severino, Mariasavina, Mancardi, Maria Margherita, Anello, Danila, Tardivo, Silvia, Biagini, Tommaso, Capra, Valeria, Casella, Antonella, Cereda, Cristina, Copeland, Brett R, Gagliardi, Stella, Gamucci, Alessandra, Ginevrino, Monia, Illi, Barbara, Lorefice, Elisa, Musaev, Damir, Stanley, Valentina, Micalizzi, Alessia, Gleeson, Joseph G, Mazza, Tommaso, Rossi, Andrea, Valente, Enza Maria
發表在 Brain (2019)

Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability

由 Law, Rosalind, Dixon-Salazar, Tracy, Jerber, Julie, Cai, Na, Abbasi, Ansar A., Zaki, Maha S., Mittal, Kirti, Gabriel, Stacey B., Rafiq, Muhammad Arshad, Khan, Valeed, Nguyen, Maria, Ali, Ghazanfar, Copeland, Brett, Scott, Eric, Vasli, Nasim, Mikhailov, Anna, Khan, Muhammad Nasim, Andrade, Danielle M., Ayaz, Muhammad, Ansar, Muhammad, Ayub, Muhammad, Vincent, John B., Gleeson, Joseph G.
發表在 Am J Hum Genet (2014)

Inactivating Mutations in MFSD2A, Required for Omega-3 Fatty Acid Transport in Brain, Cause a Lethal Microcephaly Syndrome

由 Guemez-Gamboa, Alicia, Nguyen, Long N., Yang, Hongbo, Zaki, Maha S., Kara, Majdi, Ben-Omran, Tawfeg, Akizu, Naiara, Rosti, Rasim Ozgur, Rosti, Basak, Scott, Eric, Schroth, Jana, Copeland, Brett, Vaux, Keith K., Cazenave-Gassiot, Amaury, Quek, Debra Q.Y., Wong, Bernice H., Tan, Bryan C., Wenk, Markus R., Gunel, Murat, Gabriel, Stacey, Chi, Neil C., Silver, David L., Gleeson, Joseph G.
發表在 Nat Genet (2015)

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

由 Tiosano, Dov, Baris, Hagit N., Chen, Anlu, Hitzert, Marrit M., Schueler, Markus, Gulluni, Federico, Wiesener, Antje, Bergua, Antonio, Mory, Adi, Copeland, Brett, Gleeson, Joseph G., Rump, Patrick, van Meer, Hester, Sival, Deborah A., Haucke, Volker, Kriwinsky, Josh, Knaup, Karl X., Reis, André, Hauer, Nadine N., Hirsch, Emilio, Roepman, Ronald, Pfundt, Rolph, Thiel, Christian T., Wiesener, Michael S., Aslanyan, Mariam G., Buchner, David A.
發表在 PLoS Genet (2019)

Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome

由 Guemez-Gamboa, Alicia, Çağlayan, Ahmet Okay, Stanley, Valentina, Gregor, Anne, Zaki, Maha, Saleem, Sahar N., Musaev, Damir, McEvoy-Venneri, Jennifer, Belandres, Denice, Akizu, Naiara, Silhavy, Jennifer L., Schroth, Jana, Rosti, Rasim Ozgur, Copeland, Brett, Lewis, Steven M., Fang, Rebecca, Issa, Mahmoud Y., Per, Huseyin, Gumus, Hakan, Bayram, Ayse Kacar, Kumandas, Sefer, Akgumus, Gozde Tugce, Erson-Omay, Emine Z., Yasuno, Katsuhito, Bilguvar, Kaya, Gali, Heimer, Pillar, Nir, Shomron, Noam, Weissglas-Volkov, Daphna, Porat, Yuval, Einhorn, Yaron, Gabriel, Stacey, Ben-Zeev, Bruria, Gunel, Murat, Gleeson, Joseph G.
發表在 Ann Neurol (2018)

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

由 Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S., Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K., Scott, Eric M., Silhavy, Jennifer L., Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E., Gordts, Philip, Esko, Jeffrey D., Buschman, Matthew D., Fields, Seth J., Napolitano, Gennaro, Ozgul, R. Koksal, Sagiroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Gamal, Iman, Hadi, Sawsan Abdel, El Badawy, Amera, Sadek, Abdelrahim A., Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B., de Lonlay, Pascale, Gleeson, Joseph G.
發表在 Nat Genet (2015)

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

由 Roosing, Susanne, Hofree, Matan, Kim, Sehyun, Scott, Eric, Copeland, Brett, Romani, Marta, Silhavy, Jennifer L, Rosti, Rasim O, Schroth, Jana, Mazza, Tommaso, Miccinilli, Elide, Zaki, Maha S, Swoboda, Kathryn J, Milisa-Drautz, Joanne, Dobyns, William B, Mikati, Mohamed A, İncecik, Faruk, Azam, Matloob, Borgatti, Renato, Romaniello, Romina, Boustany, Rose-Mary, Clericuzio, Carol L, D'Arrigo, Stefano, Strømme, Petter, Boltshauser, Eugen, Stanzial, Franco, Mirabelli-Badenier, Marisol, Moroni, Isabella, Bertini, Enrico, Emma, Francesco, Steinlin, Maja, Hildebrandt, Friedhelm, Johnson, Colin A, Freilinger, Michael, Vaux, Keith K, Gabriel, Stacey B, Aza-Blanc, Pedro, Heynen-Genel, Susanne, Ideker, Trey, Dynlacht, Brian D, Lee, Ji Eun, Valente, Enza Maria, Kim, Joon, Gleeson, Joseph G
發表在 eLife (2015)

Bi-allelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 over-activity and disordered cortical neuronal migration

由 Schaffer, Ashleigh E., Breuss, Martin W., Caglayan, Ahmet Okay, Al-Sanaa, Nouriya, Al-Abdulwahed, Hind Y., Kaymakçalan, Hande, Yılmaz, Cahide, Zaki, Maha S., Rosti, Rasim O., Copeland, Brett, Baek, Seung Tae, Musaev, Damir, Scott, Eric C., Ben-Omran, Tawfeg, Kariminejad, Ariana, Kayserili, Hulya, Mojahedi, Faezeh, Kara, Majdi, Cai, Na, Silhavy, Jennifer L., Elsharif, Seham, Fenercioglu, Elif, Barshop, Bruce A., Kara, Bulent, Wang, Rengang, Stanley, Valentina, James, Kiely N., Nachnani, Rahul, Kalur, Aneesha, Megahed, Hisham, Incecik, Faruk, Danda, Sumita, Alanay, Yasemin, Faqeih, Eissa, Melikishvili, Gia, Mansour, Lobna, Miller, Ian, Sukhudyan, Biayna, Chelly, Jamel, Dobyns, William B., Bilguvar, Kaya, Jamra, Rami Abou, Gunel, Murat, Gleeson, Joseph G.
發表在 Nat Genet (2018)