Epilepsy in kcnj10 Morphant Zebrafish Assessed with a Novel Method for Long-Term EEG Recordings

por Zdebik, Anselm A., Mahmood, Fahad, Stanescu, Horia C., Kleta, Robert, Bockenhauer, Detlef, Russell, Claire
Publicado 2013

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome

por Mahmood, Fahad, Mozere, Monika, Zdebik, Anselm A., Stanescu, Horia C., Tobin, Jonathan, Beales, Philip L., Kleta, Robert, Bockenhauer, Detlef, Russell, Claire
Publicado 2013

The use of whole-exome sequencing to disentangle complex phenotypes

por Williams, Hywel J, Hurst, John R, Ocaka, Louise, James, Chela, Pao, Caroline, Chanudet, Estelle, Lescai, Francesco, Stanescu, Horia C, Kleta, Robert, Rosser, Elisabeth, Bacchelli, Chiara, Beales, Philip
Publicado 2016

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

por Le Quesne Stabej, Polona, James, Chela, Ocaka, Louise, Tekman, Mehmet, Grunewald, Stephanie, Clement, Emma, Stanescu, Horia C., Kleta, Robert, Morrogh, Deborah, Calder, Alistair, Williams, Hywel J., Bitner-Glindzicz, Maria
Publicado 2017

STAG3 truncating variant as the cause of primary ovarian insufficiency

por Le Quesne Stabej, Polona, Williams, Hywel J, James, Chela, Tekman, Mehmet, Stanescu, Horia C, Kleta, Robert, Ocaka, Louise, Lescai, Francesco, Storr, Helen L, Bitner-Glindzicz, Maria, Bacchelli, Chiara, Conway, Gerard S
Publicado 2016

Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome

por Downie, Mallory L., Gupta, Sanjana, Voinescu, Catalin, Levine, Adam P., Sadeghi-Alavijeh, Omid, Dufek-Kamperis, Stephanie, Cao, Jingjing, Christian, Martin, Kari, Jameela A., Thalgahagoda, Shenal, Ranawaka, Randula, Abeyagunawardena, Asiri, Gbadegesin, Rasheed, Parekh, Rulan, Kleta, Robert, Bockenhauer, Detlef, Stanescu, Horia C., Gale, Daniel P.
Publicado 2023

Mutations in the Autoregulatory Domain of β-Tubulin 4a Cause Hereditary Dystonia

por Hersheson, Joshua, Mencacci, Niccolo E, Davis, Mary, MacDonald, Nicola, Trabzuni, Daniah, Ryten, Mina, Pittman, Alan, Paudel, Reema, Kara, Eleanna, Fawcett, Katherine, Plagnol, Vincent, Bhatia, Kailash P, Medlar, Alan J, Stanescu, Horia C, Hardy, John, Kleta, Robert, Wood, Nicholas W, Houlden, Henry
Publicado 2013

Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves

por Chan, Melanie MY, Sadeghi-Alavijeh, Omid, Lopes, Filipa M, Hilger, Alina C, Stanescu, Horia C, Voinescu, Catalin D, Beaman, Glenda M, Newman, William G, Zaniew, Marcin, Weber, Stefanie, Ho, Yee Mang, Connolly, John O, Wood, Dan, Maj, Carlo, Stuckey, Alexander, Kousathanas, Athanasios, Kleta, Robert, Woolf, Adrian S, Bockenhauer, Detlef, Levine, Adam P, Gale, Daniel P
Publicado 2022

Noncoding Deletions Expose a Novel Gene Critical for Intestinal Function

por 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.
Publicado 2019

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

por Jaureguiberry, Graciana, De la Dure-Molla, Muriel, Parry, David, Quentric, Mickael, Himmerkus, Nina, Koike, Toshiyasu, Poulter, James, Klootwijk, Enriko, Robinette, Steven L., Howie, Alexander J., Patel, Vaksha, Figueres, Marie-Lucile, Stanescu, Horia C., Issler, Naomi, Nicholson, Jeremy K., Bockenhauer, Detlef, Laing, Christopher, Walsh, Stephen B., McCredie, David A., Povey, Sue, Asselin, Audrey, Picard, Arnaud, Coulomb, Aurore, Medlar, Alan J., Bailleul-Forestier, Isabelle, Verloes, Alain, Le Caignec, Cedric, Roussey, Gwenaelle, Guiol, Julien, Isidor, Bertrand, Logan, Clare, Shore, Roger, Johnson, Colin, Inglehearn, Christopher, Al-Bahlani, Suhaila, Schmittbuhl, Matthieu, Clauss, François, Huckert, Mathilde, Laugel, Virginie, Ginglinger, Emmanuelle, Pajarola, Sandra, Spartà, Giuseppina, Bartholdi, Deborah, Rauch, Anita, Addor, Marie-Claude, Yamaguti, Paulo M., Safatle, Heloisa P., Acevedo, Ana Carolina, Martelli-Júnior, Hercílio, dos Santos Netos, Pedro E., Coletta, Ricardo D., Gruessel, Sandra, Sandmann, Carolin, Ruehmann, Denise, Langman, Craig B., Scheinman, Steven J., Ozdemir-Ozenen, Didem, Hart, Thomas C., Hart, P. Suzanne, Neugebauer, Ute, Schlatter, Eberhard, Houillier, Pascal, Gahl, William A., Vikkula, Miikka, Bloch-Zupan, Agnès, Bleich, Markus, Kitagawa, Hiroshi, Unwin, Robert J., Mighell, Alan, Berdal, Ariane, Kleta, Robert
Publicado 2013

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

por Xie, Jingyuan, Liu, Lili, Mladkova, Nikol, Li, Yifu, Ren, Hong, Wang, Weiming, Cui, Zhao, Lin, Li, Hu, Xiaofan, Yu, Xialian, Xu, Jing, Liu, Gang, Caliskan, Yasar, Sidore, Carlo, Balderes, Olivia, Rosen, Raphael J., Bodria, Monica, Zanoni, Francesca, Zhang, Jun Y., Krithivasan, Priya, Mehl, Karla, Marasa, Maddalena, Khan, Atlas, Ozay, Fatih, Canetta, Pietro A., Bomback, Andrew S., Appel, Gerald B., Sanna-Cherchi, Simone, Sampson, Matthew G., Mariani, Laura H., Perkowska-Ptasinska, Agnieszka, Durlik, Magdalena, Mucha, Krzysztof, Moszczuk, Barbara, Foroncewicz, Bartosz, Pączek, Leszek, Habura, Ireneusz, Ars, Elisabet, Ballarin, Jose, Mani, Laila-Yasmin, Vogt, Bruno, Ozturk, Savas, Yildiz, Abdülmecit, Seyahi, Nurhan, Arikan, Hakki, Koc, Mehmet, Basturk, Taner, Karahan, Gonca, Akgul, Sebahat Usta, Sever, Mehmet Sukru, Zhang, Dan, Santoro, Domenico, Bonomini, Mario, Londrino, Francesco, Gesualdo, Loreto, Reiterova, Jana, Tesar, Vladimir, Izzi, Claudia, Savoldi, Silvana, Spotti, Donatella, Marcantoni, Carmelita, Messa, Piergiorgio, Galliani, Marco, Roccatello, Dario, Granata, Simona, Zaza, Gianluigi, Lugani, Francesca, Ghiggeri, GianMarco, Pisani, Isabella, Allegri, Landino, Sprangers, Ben, Park, Jin-Ho, Cho, BeLong, Kim, Yon Su, Kim, Dong Ki, Suzuki, Hitoshi, Amoroso, Antonio, Cattran, Daniel C., Fervenza, Fernando C., Pani, Antonello, Hamilton, Patrick, Harris, Shelly, Gupta, Sanjana, Cheshire, Chris, Dufek, Stephanie, Issler, Naomi, Pepper, Ruth J., Connolly, John, Powis, Stephen, Bockenhauer, Detlef, Stanescu, Horia C., Ashman, Neil, Loos, Ruth J. F., Kenny, Eimear E., Wuttke, Matthias, Eckardt, Kai-Uwe, Köttgen, Anna, Hofstra, Julia M., Coenen, Marieke J. H., Kiemeney, Lambertus A., Akilesh, Shreeram, Kretzler, Matthias, Beck, Lawrence H., Stengel, Benedicte, Debiec, Hanna, Ronco, Pierre, Wetzels, Jack F. M., Zoledziewska, Magdalena, Cucca, Francesco, Ionita-Laza, Iuliana, Lee, Hajeong, Hoxha, Elion, Stahl, Rolf A. K., Brenchley, Paul, Scolari, Francesco, Zhao, Ming-hui, Gharavi, Ali G., Kleta, Robert, Chen, Nan, Kiryluk, Krzysztof
Publicado 2020