Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome
Francesco Brancati, Letizia Camerota, Emma Colao, Virginia Vega-Warner, Xiangzhong Zhao, Ruixiao Zhang, Irene Bottillo, Marco Castori, Alfredo Caglioti, Federica Sangiuolo, Giuseppe Novelli, Nicola Perrotti, Edgar Otto, Undiagnosed Disease Network Italy
An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome
Christopher E Gillies, Rosemary Putler, Rajasree Menon, Edgar Otto, Kalyn Yasutake, Viji Nair, Paul Hoover, David Lieb, Shuqiang Li, Sean Eddy, Damian Fermin, Michelle T McNulty, Nir Hacohen, Krzysztof Kiryluk, Matthias Kretzler, Xiaoquan Wen, Matthew G Sampson, John Sedor, Katherine Dell, Marleen Schachere, Kevin Lemley, Lauren Whitted, Tarak Srivastava, Connie Haney, Christine Sethna, Kalliopi Grammatikopoulos, Gerald Appel, Michael Toledo, Laurence Greenbaum, Chia-shi Wang, Brian Lee, Sharon Adler, Cynthia Nast, Janine LaPage, Ambarish Athavale, Alicia Neu, Sara Boynton, Fernando Fervenza, Marie Hogan, John C Lieske, Vladimir Chernitskiy, Frederick Kaskel, Neelja Kumar, Patricia Flynn, Jeffrey Kopp, Eveleyn Castro-Rubio, Jodi Blake, Howard Trachtman, Olga Zhdanova, Frank Modersitzki, Suzanne Vento, Richard Lafayette, Kshama Mehta, Crystal Gadegbeku, Duncan Johnstone, Daniel Cattran, Michelle Hladunewich, Heather Reich, Paul Ling, Martin Romano, Alessia Fornoni, Larua Barisoni, Carlos Bidot, Matthias Kretzler, Debbie Gipson, Amanda Williams, Renee Pitter, Patrick Nachman, Keisha Gibson, Sandra Grubbs, Anne Froment, Lawrence Holzman, Kevin Meyers, Krishna Kallem, Fumei Cerecino, Kamal Sambandam, Elizabeth Brown, Natalie Johnson, Ashley Jefferson, Sangeeta Hingorani, Kathleen Tuttle, Laura Curtin, S Dismuke, Ann Cooper, Barry Freedman, Jen Jar Lin, Stefanie Gray, Brenda Gillespie, Debbie Gipson, Laura Mariani, Matthew Sampson, Peter Song, Johnathan Troost, Jarcy Zee, Emily Herreshoff, Colleen Kincaid, Chrysta Lienczewski, Tina Mainieri, Kevin Abbott, Cindy Roy, Tiina Urv, John Brooks
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
Markus Reichold, Enriko D Klootwijk, Joerg Reinders, Edgar Otto, Mario Milani, Carsten Broeker, Chris Laing, Julia Wiesner, Sulochana Devi, Weibin Zhou, Roland Schmitt, Ines Tegtmeier, Christina Sterner, Hannes Doellerer, Kathrin Renner, Peter J Oefner, Katja Dettmer, Johann M Simbuerger, Ralph Witzgall, Horia C Stanescu, Simona Dumitriu, Daniela Iancu, Vaksha Patel, Monika Mozere, Mehmet Tekman, Graciana Jaureguiberry, Naomi Issler, Anne Kesselheim, Stephen B Walsh, Daniel P Gale, Alexander J Howie, Joana R Martins, Andrew M Hall, Michael Kasgharian, Kevin O'Brien, Carlos R Ferreira, Paldeep S Atwal, Mahim Jain, Alexander Hammers, Geoffrey Charles-Edwards, Chi-Un Choe, Dirk Isbrandt, Alberto Cebrian-Serrano, Ben Davies, Richard N Sandford, Christopher Pugh, David S Konecki, Sue Povey, Detlef Bockenhauer, Uta Lichter-Konecki, William A Gahl, Robert J Unwin, Richard Warth, Robert Kleta
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
Simone Sanna-Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita-Laza, Valentina P Capone, David A Fasel, Krzysztof Kiryluk, Sitharthan Kamalakaran, Monica Bodria, Edgar Otto, Matthew Sampson, Christopher E Gillies, Virginia Vega-Warner, Katarina Vukojevic, Igor Pediaditakis, Gabriel S Makar, Adele Mitrotti, Miguel Verbitsky, Jeremiah Martino, Qingxue Liu, Young-Ji Na, Vinicio Goj, Gianluigi Ardissino, Maddalena Gigante, Loreto Gesualdo, Magdalena Janezcko, Marcin Zaniew, Cathy Lee Mendelsohn, Shirlee Shril, Friedhelm Hildebrandt, Joanna AE van Wijk, Adela Arapovic, Marijan Saraga, Landino Allegri, Claudia Izzi, Francesco Scolari, Velibor Tasic, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Shrikant Mane, David B Goldstein, Richard P Lifton, Nicholas Katsanis, Erica E Davis, Ali G Gharavi
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
Simone Sanna-Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita-Laza, Valentina P Capone, David A Fasel, Krzysztof Kiryluk, Sitharthan Kamalakaran, Monica Bodria, Edgar Otto, Matthew Sampson, Christopher E Gillies, Virginia Vega-Warner, Katarina Vukojevic, Igor Pediaditakis, Gabriel S Makar, Adele Mitrotti, Miguel Verbitsky, Jeremiah Martino, Qingxue Liu, Young-Ji Na, Vinicio Goj, Gianluigi Ardissino, Maddalena Gigante, Loreto Gesualdo, Magdalena Janezcko, Marcin Zaniew, Cathy Lee Mendelsohn, Shirlee Shril, Friedhelm Hildebrandt, Joanna AE van Wijk, Adela Arapovic, Marijan Saraga, Landino Allegri, Claudia Izzi, Francesco Scolari, Velibor Tasic, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Shrikant Mane, David B Goldstein, Richard P Lifton, Nicholas Katsanis, Erica E Davis, Ali G Gharavi
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease
Hao Lu, Maria C Rondón Galeano, Elisabeth Ott, Geraldine Kaeslin, P Jaya Kausalya, Carina Kramer, Nadina Ortiz-Brüchle, Nadescha Hilger, Vicki Metzis, Milan Hiersche, Shang Yew Tay, Robert Tunningley, Shubha Vij, Andrew D Courtney, Belinda Whittle, Elke Wühl, Udo Vester, Björn Hartleben, Steffen Neuber, Valeska Frank, Melissa H Little, Daniel Epting, Peter Papathanasiou, Andrew C Perkins, Graham D Wright, Walter Hunziker, Heon Yung Gee, Edgar Otto, Klaus Zerres, Friedhelm Hildebrandt, Sudipto Roy, Carol Wicking, Carsten Bergmann
A Familial Infantile Renal Failure
Sidharth K Sethi, Nikita Wadhwani, Pranaw Jha, Rajan Duggal, Virginia Vega-Warner, Rupesh Raina, Shyam B Bansal, Vijay Kher, Matthew Sampson, Edgar Otto
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome
Esther Lopez-Rivera, Yangfan P Liu, Miguel Verbitsky, Blair R Anderson, Valentina P Capone, Edgar Otto, Zhonghai Yan, Adele Mitrotti, Jeremiah Martino, Nicholas J Steers, David A Fasel, Katarina Vukojevic, Rong Deng, Silvia E Racedo, Qingxue Liu, Max Werth, Rik Westland, Asaf Vivante, Gabriel S Makar, Monica Bodria, Matthew Sampson, Christopher E Gillies, Virginia Vega-Warner, Mariarosa Maiorana, Donald S Petrey, Barry Honig, Vladimir J Lozanovski, Rémi Salomon, Laurence Heidet, Wassila Carpentier, Dominique Gaillard, Alba Carrea, Loreto Gesualdo, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna AE van Wijk, Adela Arapovic, Mirna Saraga-Babic, Marijan Saraga, Nenad Kunac, Ali Samii, Donna M McDonald-McGinn, Terrence B Crowley, Elaine H Zackai, Dorota Drozdz, Monika Miklaszewska, Marcin Tkaczyk, Przemyslaw Sikora, Maria Szczepanska, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, John M Darlow, Prem Puri, David Barton, Emilio Casolari, Susan L Furth, Bradley A Warady, Zoran Gucev, Hakon Hakonarson, Hana Flogelova, Velibor Tasic, Anna Latos-Bielenska, Anna Materna-Kiryluk, Landino Allegri, Craig S Wong, Iain A Drummond, Vivette D’Agati, Akira Imamoto, Jonathan M Barasch, Friedhelm Hildebrandt, Krzysztof Kiryluk, Richard P Lifton, Bernice E Morrow, Cecile Jeanpierre, Virginia E Papaioannou, Gian Marco Ghiggeri, Ali G Gharavi, Nicholas Katsanis, Simone Sanna-Cherchi
FAT1 mutations cause a glomerulotubular nephropathy
Heon Yung Gee, Carolin E Sadowski, Pardeep K Aggarwal, Jonathan D Porath, Toma A Yakulov, Markus Schueler, Svjetlana Lovric, Shazia Ashraf, Daniela A Braun, Jan Halbritter, Humphrey Fang, Rannar Airik, Virginia Vega-Warner, Kyeong Jee Cho, Timothy A Chan, Luc GT Morris, Charles ffrench-Constant, Nicholas Allen, Helen McNeill, Rainer Büscher, Henriette Kyrieleis, Michael Wallot, Ariana Gaspert, Thomas Kistler, David V Milford, Moin A Saleem, Wee Teik Keng, Stephen I Alexander, Rudolph P Valentini, Christoph Licht, Jun C Teh, Radovan Bogdanovic, Ania Koziell, Agnieszka Bierzynska, Neveen A Soliman, Edgar Otto, Richard P Lifton, Lawrence B Holzman, Nicholas ES Sibinga, Gerd Walz, Alda Tufro, Friedhelm Hildebrandt
Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects
Matthew Sampson, Catherine C Robertson, Sebastian Martini, Laura Mariani, Kevin V Lemley, Christopher E Gillies, Edgar Otto, Jeffrey B Kopp, Anne Randolph, Virginia Vega-Warner, Felix Eichinger, Viji Nair, Debbie Gipson, Daniel C Cattran, Duncan B Johnstone, John F O’Toole, Serena M Bagnasco, Peter Song, Laura Barisoni, Jonathan Troost, Matthias Kretzler, John R Sedor, the Nephrotic Syndrome Study Network
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