Natural Selection Shapes Codon Usage in the Human Genome von Dhindsa, Ryan S., Copeland, Brett R., Mustoe, Anthony M., Goldstein, David B.

Volltext

Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics von Gussow, Ayal B, Copeland, Brett R, Dhindsa, Ryan S, Wang, Quanli, Petrovski, Slavé, Majoros, William H, Allen, Andrew S, Goldstein, David B

Volltext

Natural Selection Shapes Codon Usage in the Human Genome von Dhindsa, Ryan S., Copeland, Brett R., Mustoe, Anthony M., Goldstein, David B.

Volltext

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome von 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

Volltext

Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance von Hayeck, Tristan J., Stong, Nicholas, Wolock, Charles J., Copeland, Brett, Kamalakaran, Sitharthan, Goldstein, David B., Allen, Andrew S.

Volltext

Correction: Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics von Gussow, Ayal B, Copeland, Brett R, Dhindsa, Ryan S, Wang, Quanli, Petrovski, Slavé, Majoros, William H, Allen, Andrew S, Goldstein, David B

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

Diagnostic Utility of Exome Sequencing for Kidney Disease von Groopman, Emily E, Marasa, Maddalena, Cameron-Christie, Sophia, Petrovski, Slavé, Aggarwal, Vimla S, Milo-Rasouly, Hila, Li, Yifu, Zhang, Junying, Nestor, Jordan, Krithivasan, Priya, Lam, Wan Yee, Mitrotti, Adele, Piva, Stacy, Kil, Byum H, Chatterjee, Debanjana, Reingold, Rachel, Bradbury, Drew, DiVecchia, Michael, Snyder, Holly, Mu, Xueru, Mehl, Karla, Balderes, Olivia, Fasel, David A, Weng, Chunhua, Radhakrishnan, Jai, Canetta, Pietro, Appel, Gerald B, Bomback, Andrew S, Ahn, Wooin, Uy, Natalie S, Alam, Shumyle, Cohen, David J, Crew, Russell J, Dube, Geoffrey K, Rao, Maya K, Kamalakaran, Sitharthan, Copeland, Brett, Ren, Zhong, Bridgers, Joshua, Malone, Colin D, Mebane, Caroline M, Dagaonkar, Neha, Fellström, Bengt C, Haefliger, Carolina, Mohan, Sumit, Sanna-Cherchi, Simone, Kiryluk, Krzysztof, Fleckner, Jan, March, Ruth, Platt, Adam, Goldstein, David B, Gharavi, Ali G

Volltext

An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development von 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

Volltext

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration von 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.

Volltext

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction von 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 L S M, Esko, Jeffrey D, Buschman, Matthew D, Field, Seth J, Napolitano, Gennaro, Abdel-Salam, Ghada M, Ozgul, R Koksal, Sagıroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Mahmoud, Iman G, Abdel-Hadi, Sawsan, Badawy, Amera El, 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

Volltext

Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome von Guemez‐Gamboa, Alicia, Çağlayan, Ahmet Okay, Stanley, Valentina, Gregor, Anne, Zaki, Maha S., 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, Heimer, Gali, Pillar, Nir, Shomron, Noam, Weissglas‐Volkov, Daphna, Porat, Yuval, Einhorn, Yaron, Gabriel, Stacey, Ben‐Zeev, Bruria, Gunel, Murat, Gleeson, Joseph G.

Volltext

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

Volltext

Loss of Protocadherin‐12 L eads to D iencephalic‐ M esencephalic J unction D ysplasia S yndrome von Guemez‐Gamboa, Alicia, Çağlayan, Ahmet Okay, Stanley, Valentina, Gregor, Anne, Zaki, Maha S., 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, Heimer, Gali, Pillar, Nir, Shomron, Noam, Weissglas‐Volkov, Daphna, Porat, Yuval, Einhorn, Yaron, Gabriel, Stacey, Ben‐Zeev, Bruria, Gunel, Murat, Gleeson, Joseph G.

Volltext

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

Volltext

Somatic mosaicism reveals clonal distributions of neocortical development von Breuss, Martin W., Yang, Xiaoxu, Schlachetzki, Johannes C. M., Antaki, Danny, Lana, Addison J., Xu, Xin, Chung, Changuk, Chai, Guoliang, Stanley, Valentina, Song, Qiong, Newmeyer, Traci F., Nguyen, An, O’Brien, Sydney, Hoeksema, Marten A., Cao, Beibei, Nott, Alexi, McEvoy-Venneri, Jennifer, Pasillas, Martina P., Barton, Scott T., Copeland, Brett R., Nahas, Shareef, Van Der Kraan, Lucitia, Ding, Yan, Glass, Christopher K., Gleeson, Joseph G.

Volltext

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

Volltext