Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development.

by Qiu, Yuqi, Arbogast, Thomas, Lorenzo, Sandra Martin, Li, Hongying, Tang, Shih C, Richardson, Ellen, Hong, Oanh, Cho, Shawn, Shanta, Omar, Pang, Timothy, Corsello, Christina, Deutsch, Curtis K, Chevalier, Claire, Davis, Erica E, Iakoucheva, Lilia M, Herault, Yann, Katsanis, Nicholas, Messer, Karen, Sebat, Jonathan
Published 2019

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

by Kousi, Maria, Söylemez, Onuralp, Ozanturk, Aysegül, Mourtzi, Niki, Akle, Sebastian, Jungreis, Irwin, Muller, Jean, Cassa, Christopher A, Brand, Harrison, Mokry, Jill Anne, Wolf, Maxim Y, Sadeghpour, Azita, McFadden, Kelsey, Lewis, Richard A, Talkowski, Michael E, Dollfus, Hélène, Kellis, Manolis, Davis, Erica E, Sunyaev, Shamil R, Katsanis, Nicholas
Published 2021

Loss of delta catenin function in severe autism

by Turner, Tychele N., Sharma, Kamal, Oh, Edwin C., Liu, Yangfan P., Collins, Ryan L., Sosa, Maria X., Auer, Dallas R., Brand, Harrison, Sanders, Stephan J., Moreno-De-Luca, Daniel, Pihur, Vasyl, Plona, Teri, Pike, Kristen, Soppet, Daniel R., Smith, Michael W., Cheung, Sau Wai, Martin, Christa Lese, State, Matthew W., Talkowski, Michael E., Cook, Edwin, Huganir, Richard, Katsanis, Nicholas, Chakravarti, Aravinda
Published 2015

Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination

by Margolin, David H., Kousi, Maria, Chan, Yee-Ming, Lim, Elaine T., Schmahmann, Jeremy Dan, Hadjivassiliou, Marios, Hall, Janet E., Adam, Ibrahim, Dwyer, Andrew, Plummer, Lacey, Aldrin, Stephanie V., O, Julia, Kirby, Andrew, Lage, Kasper, Milunsky, Aubrey, Milunsky, Jeff M., Chan, Jennifer Ang, Hedley-Whyte, E. Tessa, Daly, Mark Joseph, Katsanis, Nicholas, Seminara, Stephanie Beth
Published 2017

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.

by Garcia-Gonzalo, Francesc R, Corbit, Kevin C, Sirerol-Piquer, María Salomé, Ramaswami, Gokul, Otto, Edgar A, Noriega, Thomas R, Seol, Allen D, Robinson, Jon F, Bennett, Christopher L, Josifova, Dragana J, García-Verdugo, José Manuel, Katsanis, Nicholas, Hildebrandt, Friedhelm, Reiter, Jeremy F
Published 2011

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

by Kousi, Maria, Söylemez, Onuralp, Ozanturk, Aysegül, Mourtzi, Niki, Akle, Sebastian, Jungreis, Irwin, Muller, Jean, Cassa, Christopher A, Brand, Harrison, Mokry, Jill Anne, Wolf, Maxim Y., Sadeghpour, Azita, McFadden, Kelsey, Lewis, Richard A, Talkowski, Michael E, Dollfus, Hélène, Kellis, Manolis, Davis, Erica E, Sunyaev, Shamil R, Katsanis, Nicholas
Published 2022

Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5.

by Monzon, Alexander Miguel, Carraro, Marco, Chiricosta, Luigi, Reggiani, Francesco, Han, James, Ozturk, Kivilcim, Wang, Yanran, Miller, Maximilian, Bromberg, Yana, Capriotti, Emidio, Savojardo, Castrense, Babbi, Giulia, Martelli, Pier L, Casadio, Rita, Katsonis, Panagiotis, Lichtarge, Olivier, Carter, Hannah, Kousi, Maria, Katsanis, Nicholas, Andreoletti, Gaia, Moult, John, Brenner, Steven E, Ferrari, Carlo, Leonardi, Emanuela, Tosatto, Silvio CE
Published 2019

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

by Roberson, Elle C., Dowdle, William E., Ozanturk, Aysegul, Garcia-Gonzalo, Francesc R., Li, Chunmei, Halbritter, Jan, Elkhartoufi, Nadia, Porath, Jonathan D., Cope, Heidi, Ashley-Koch, Allison, Gregory, Simon, Thomas, Sophie, Sayer, John A., Saunier, Sophie, Otto, Edgar A., Katsanis, Nicholas, Davis, Erica E., Attié-Bitach, Tania, Hildebrandt, Friedhelm, Leroux, Michel R., Reiter, Jeremy F.
Published 2015

KCTD13 is a Major Driver of Mirrored Neuroanatomical Phenotypes Associated with the 16p11.2 CNV

by Golzio, Christelle, Willer, Jason, Oh, Edwin C, Taniguchi, Yu, Jacquemont, Sébastien, Reymond, Alexandre, Sun, Mei, Sawa, Akira, Kamiya, Atsushi, Beckmann, Jacques S, Katsanis, Nicholas, Talkowski, Michael Edward, Gusella, James Francis
Published 2013

Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma.

by Carnes, Megan Ulmer, Liu, Yangfan P, Allingham, R Rand, Whigham, Benjamin T, Havens, Shane, Garrett, Melanie E, Qiao, Chunyan, NEIGHBORHOOD Consortium Investigators, Katsanis, Nicholas, Wiggs, Janey L, Pasquale, Louis R, Ashley-Koch, Allison, Oh, Edwin C, Hauser, Michael A
Published 2014

Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma

by Ulmer Carnes, Megan, Liu, Yangfan P., Allingham, R. Rand, Whigham, Benjamin T., Havens, Shane, Garrett, Melanie E., Qiao, Chunyan, Katsanis, Nicholas, Wiggs, Janey L., Pasquale, Louis R., Ashley-Koch, Allison, Oh, Edwin C., Hauser, Michael A.
Published 2014

Whole exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

by Gee, Heon Yung, Otto, Edgar A., Hurd, Toby W., Ashraf, Shazia, Chaki, Moumita, Cluckey, Andrew, Vega-Warner, Virginia, Saisawat, Pawaree, Diaz, Katrina A., Fang, Humphrey, Kohl, Stefan, Allen, Susan J., Airik, Rannar, Zhou, Weibin, Ramaswami, Gokul, Janssen, Sabine, Fu, Clementine, Innis, Jamie L., Weber, Stefanie, Vester, Udo, Davis, Erica E., Katsanis, Nicholas, Fathy, Hanan M., Jeck, Nikola, Klaus, Gunther, Nayir, Ahmet, Rahim, Khawla A., Attrach, Ibrahim Al, Hassoun, Ibrahim Al, Ozturk, Savas, Drozdz, Dorota, Helmchen, Udo, O’Toole, John F., Attanasio, Massimo, Nürnberg, Gudrun, Nürnberg, Peter, Washburn, Joseph, MacDonald, James, James, Jeffrey W., Levy, Shawn, Hildebrandt, Friedhelm
Published 2014

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

by Spataro, Rossella, Kousi, Maria, Farhan, Sali M K, Willer, Jason R, Ross, Jay P, Dion, Patrick A, Rouleau, Guy A, Daly, Mark J, Neale, Benjamin M, La Bella, Vincenzo, Katsanis, Nicholas
Published 2020

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

by Waters, Aoife M, Asfahani, Rowan, Carroll, Paula, Bicknell, Louise, Lescai, Francesco, Bright, Alison, Chanudet, Estelle, Brooks, Anthony, Christou-Savina, Sonja, Osman, Guled, Walsh, Patrick, Bacchelli, Chiara, Chapgier, Ariane, Vernay, Bertrand, Bader, David M, Deshpande, Charu, O’ Sullivan, Mary, Ocaka, Louise, Stanescu, Horia, Stewart, Helen S, Hildebrandt, Friedhelm, Otto, Edgar, Johnson, Colin A, Szymanska, Katarzyna, Katsanis, Nicholas, Davis, Erica, Kleta, Robert, Hubank, Mike, Doxsey, Stephen, Jackson, Andrew, Stupka, Elia, Winey, Mark, Beales, Philip L
Published 2015

Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia

by Fromer, Menachem, Roussos, Panos, Sieberts, Solveig K, Johnson, Jessica S, Kavanagh, David H, Perumal, Thanneer M, Ruderfer, Douglas M, Oh, Edwin C, Topol, Aaron, Shah, Hardik R, Klei, Lambertus L, Kramer, Robin, Pinto, Dalila, Gümüş, Zeynep H, Cicek, A. Ercument, Dang, Kristen K, Browne, Andrew, Lu, Cong, Xie, Lu, Readhead, Ben, Stahl, Eli A, Parvizi, Mahsa, Hamamsy, Tymor, Fullard, John F, Wang, Ying-Chih, Mahajan, Milind C, Derry, Jonathan M J, Dudley, Joel, Hemby, Scott E, Logsdon, Benjamin A, Talbot, Konrad, Raj, Towfique, Bennett, David A, De Jager, Philip L, Zhu, Jun, Zhang, Bin, Sullivan, Patrick F, Chess, Andrew, Purcell, Shaun M, Shinobu, Leslie A, Mangravite, Lara M, Toyoshiba, Hiroyoshi, Gur, Raquel E, Hahn, Chang-Gyu, Lewis, David A, Haroutunian, Vahram, Peters, Mette A, Lipska, Barbara K, Buxbaum, Joseph D, Schadt, Eric E, Hirai, Keisuke, Roeder, Kathryn, Brennand, Kristen J, Katsanis, Nicholas, Domenici, Enrico, Devlin, Bernie, Sklar, Pamela
Published 2017

CHD8 Regulates Neurodevelopmental Pathways Associated with Autism Spectrum Disorder in Neural Progenitors

by Sugathan, Aarathi, Biagioli, Marta, Golzio, Christelle, Erdin, Serkan, Blumenthal, Ian, Manavalan, Poornima, Ragavendran, Ashok, Brand, Harrison, Lucente, Diane, Miles, Judith, Sheridan, Steven D., Stortchevoi, Alexei, Kellis, Manolis, Haggarty, Stephen J., Katsanis, Nicholas, Gusella, James F., Talkowski, Michael E.
Published 2015

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

by Fritsche, Lars G., Igl, Wilmar, Cooke Bailey, Jessica N., Grassmann, Felix, Sengupta, Sebanti, Bragg-Gresham, Jennifer L., Burdon, Kathryn P., Hebbring, Scott J., Wen, Cindy, Gorski, Mathias, Kim, Ivana K., Cho, David, Zack, Donald, Souied, Eric, Scholl, Hendrik P. N., Bala, Elisa, Lee, Kristine E., Hunter, David J., Sardell, Rebecca J., Mitchell, Paul, Merriam, Joanna E., Cipriani, Valentina, Hoffman, Joshua D., Schick, Tina, Lechanteur, Yara T. E., Guymer, Robyn H., Johnson, Matthew P., Jiang, Yingda, Stanton, Chloe M., Buitendijk, Gabriëlle H. S., Zhan, Xiaowei, Kwong, Alan M., Boleda, Alexis, Brooks, Matthew, Gieser, Linn, Ratnapriya, Rinki, Branham, Kari E., Foerster, Johanna R., Heckenlively, John R., Othman, Mohammad I., Vote, Brendan J., Liang, Helena Hai, Souzeau, Emmanuelle, McAllister, Ian L., Isaacs, Timothy, Hall, Janette, Lake, Stewart, Mackey, David A., Constable, Ian J., Craig, Jamie E., Kitchner, Terrie E., Yang, Zhenglin, Su, Zhiguang, Luo, Hongrong, Chen, Daniel, Ouyang, Hong, Flagg, Ken, Lin, Danni, Mao, Guanping, Ferreyra, Henry, Stark, Klaus, von Strachwitz, Claudia N., Wolf, Armin, Brandl, Caroline, Rudolph, Guenther, Olden, Matthias, Morrison, Margaux A., Morgan, Denise J., Schu, Matthew, Ahn, Jeeyun, Silvestri, Giuliana, Tsironi, Evangelia E., Park, Kyu Hyung, Farrer, Lindsay A., Orlin, Anton, Brucker, Alexander, Li, Mingyao, Curcio, Christine, Mohand-Saïd, Saddek, Sahel, José-Alain, Audo, Isabelle, Benchaboune, Mustapha, Cree, Angela J., Rennie, Christina A., Goverdhan, Srinivas V., Grunin, Michelle, Hagbi-Levi, Shira, Campochiaro, Peter, Katsanis, Nicholas, Holz, Frank G., Blond, Frédéric, Blanché, Hélène, Deleuze, Jean-François, Igo, Robert P., Truitt, Barbara, Peachey, Neal S., Meuer, Stacy M., Myers, Chelsea E., Moore, Emily L., Klein, Ronald, Hauser, Michael A., Postel, Eric A., Courtenay, Monique D., Schwartz, Stephen G., Kovach, Jaclyn L., Scott, William K., Liew, Gerald, Tƒan, Ava G., Gopinath, Bamini, Merriam, John C., Smith, R. Theodore, Khan, Jane C., Shahid, Humma, Moore, Anthony T., McGrath, J. Allie, Laux, Reneé, Brantley, Milam A., Agarwal, Anita, Ersoy, Lebriz, Caramoy, Albert, Langmann, Thomas, Saksens, Nicole T. M., de Jong, Eiko K., Hoyng, Carel B., Cain, Melinda S., Richardson, Andrea J., Martin, Tammy M., Blangero, John, Weeks, Daniel E., Dhillon, Bal, van Duijn, Cornelia M., Doheny, Kimberly F., Romm, Jane, Klaver, Caroline C. W., Hayward, Caroline, Gorin, Michael B., Klein, Michael L., Baird, Paul N., den Hollander, Anneke I., Fauser, Sascha, Yates, John R. W., Allikmets, Rando, Wang, Jie Jin, Schaumberg, Debra A., Klein, Barbara E. K., Hagstrom, Stephanie A., Chowers, Itay, Lotery, Andrew J., Léveillard, Thierry, Zhang, Kang, Brilliant, Murray H., Hewitt, Alex W., Swaroop, Anand, Chew, Emily Y., Pericak-Vance, Margaret A., DeAngelis, Margaret, Stambolian, Dwight, Haines, Jonathan L., Iyengar, Sudha K., Weber, Bernhard H. F., Abecasis, Gonçalo R., Heid, Iris M.
Published 2016

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

by Fritsche, Lars G, Igl, Wilmar, Bailey, Jessica N Cooke, Grassmann, Felix, Sengupta, Sebanti, Bragg-Gresham, Jennifer L, Burdon, Kathryn P, Hebbring, Scott J, Wen, Cindy, Gorski, Mathias, Kim, Ivana K, Cho, David, Zack, Donald, Souied, Eric, Scholl, Hendrik PN, Bala, Elisa, Lee, Kristine E, Hunter, David J, Sardell, Rebecca J, Mitchell, Paul, Merriam, Joanna E, Cipriani, Valentina, Hoffman, Joshua D, Schick, Tina, Lechanteur, Yara TE, Guymer, Robyn H, Johnson, Matthew P, Jiang, Yingda, Stanton, Chloe M, Buitendijk, Gabriëlle HS, Zhan, Xiaowei, Kwong, Alan M, Boleda, Alexis, Brooks, Matthew, Gieser, Linn, Ratnapriya, Rinki, Branham, Kari E, Foerster, Johanna R, Heckenlively, John R, Othman, Mohammad I, Vote, Brendan J, Liang, Helena Hai, Souzeau, Emmanuelle, McAllister, Ian L, Isaacs, Timothy, Hall, Janette, Lake, Stewart, Mackey, David A, Constable, Ian J, Craig, Jamie E, Kitchner, Terrie E, Yang, Zhenglin, Su, Zhiguang, Luo, Hongrong, Chen, Daniel, Ouyang, Hong, Flagg, Ken, Lin, Danni, Mao, Guanping, Ferreyra, Henry, Stark, Klaus, von Strachwitz, Claudia N, Wolf, Armin, Brandl, Caroline, Rudolph, Guenther, Olden, Matthias, Morrison, Margaux A, Morgan, Denise J, Schu, Matthew, Ahn, Jeeyun, Silvestri, Giuliana, Tsironi, Evangelia E, Park, Kyu Hyung, Farrer, Lindsay A, Orlin, Anton, Brucker, Alexander, Li, Mingyao, Curcio, Christine A, Mohand-Saïd, Saddek, Sahel, José-Alain, Audo, Isabelle, Benchaboune, Mustapha, Cree, Angela J, Rennie, Christina A, Goverdhan, Srinivas V, Grunin, Michelle, Hagbi-Levi, Shira, Campochiaro, Peter, Katsanis, Nicholas, Holz, Frank G, Blond, Frédéric, Blanché, Hélène, Deleuze, Jean-François, Igo, Robert P, Truitt, Barbara, Peachey, Neal S, Meuer, Stacy M, Myers, Chelsea E, Moore, Emily L, Klein, Ronald, Hauser, Michael A, Postel, Eric A, Courtenay, Monique D, Schwartz, Stephen G, Kovach, Jaclyn L, Scott, William K, Liew, Gerald, Tan, Ava G, Gopinath, Bamini, Merriam, John C, Smith, R Theodore, Khan, Jane C, Shahid, Humma, Moore, Anthony T, McGrath, J Allie, Laux, Reneé, Brantley, Milam A, Agarwal, Anita, Ersoy, Lebriz, Caramoy, Albert, Langmann, Thomas, Saksens, Nicole TM, de Jong, Eiko K, Hoyng, Carel B, Cain, Melinda S, Richardson, Andrea J, Martin, Tammy M, Blangero, John, Weeks, Daniel E, Dhillon, Bal, van Duijn, Cornelia M, Doheny, Kimberly F, Romm, Jane, Klaver, Caroline CW, Hayward, Caroline, Gorin, Michael B, Klein, Michael L, Baird, Paul N, den Hollander, Anneke I, Fauser, Sascha, Yates, John RW, Allikmets, Rando, Wang, Jie Jin, Schaumberg, Debra A, Klein, Barbara EK, Hagstrom, Stephanie A, Chowers, Itay, Lotery, Andrew J, Léveillard, Thierry, Zhang, Kang, Brilliant, Murray H, Hewitt, Alex W, Swaroop, Anand, Chew, Emily Y, Pericak-Vance, Margaret A, DeAngelis, Margaret, Stambolian, Dwight, Haines, Jonathan L, Iyengar, Sudha K, Weber, Bernhard HF, Abecasis, Gonçalo R, Heid, Iris M
Published 2015