Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome
F Brancati, L Camerota, E Colao, V Vega-Warner, X Zhao, R Zhang, I Bottillo, M Castori, A Caglioti, F Sangiuolo, G Novelli, N Perrotti, Edgar Otto, D Taruscio, M Salvatore, MC De Stefano, F Censi, G Floridia, F Brancati, E Daina, P Iatropoulos, A Ferlini, D Roccatello, M Neri, E Menegatti, B Bembi
An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome
CE Gillies, R Putler, Rajasree Menon, Edgar Otto, K Yasutake, V Nair, P Hoover, D Lieb, S Li, S Eddy, D Fermin, MT McNulty, J Sedor, K Dell, M Schachere, K Lemley, L Whitted, T Srivastava, C Haney, C Sethna, K Grammatikopoulos, G Appel, M Toledo, L Greenbaum, CS Wang, B Lee, S Adler, C Nast, J LaPage, A Athavale, A Neu, S Boynton, F Fervenza, M Hogan, JC Lieske, V Chernitskiy, F Kaskel, N Kumar, P Flynn, J Kopp, E Castro-Rubio, J Blake, H Trachtman, O Zhdanova, F Modersitzki, S Vento, R Lafayette, K Mehta, C Gadegbeku, D Johnstone, D Cattran, M Hladunewich, H Reich, P Ling, M Romano, A Fornoni, L Barisoni, C Bidot, Matthias Kretzler, Debbie Gipson, A Williams, R Pitter, P Nachman, K Gibson, S Grubbs, A Froment, L Holzman, K Meyers, K Kallem, F Cerecino, K Sambandam, E Brown, N Johnson, A Jefferson, S Hingorani, K Tuttle, L Curtin, S Dismuke, A Cooper, B Freedman, JJ Lin, S Gray, Brenda Gillespie, Laura Mariani, Matthew Sampson, Peter Song, J Troost, J Zee, E Herreshoff, C Kincaid, C Lienczewski, T Mainieri, K Abbott, C Roy
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure
M Reichold, ED Klootwijk, J Reinders, Edgar Otto, M Milani, C Broeker, C Laing, J Wiesner, S Devi, W Zhou, R Schmitt, I Tegtmeier, C Sterner, H Doellerer, K Renner, PJ Oefner, K Dettmer, JM Simbuerger, R Witzgall, HC Stanescu, S Dumitriu, D Iancu, V Patel, M Mozere, M Tekman, G Jaureguiberry, N Issler, A Kesselheim, SB Walsh, DP Gale, AJ Howie, JR Martins, AM Hall, M Kasgharian, K O’Brien, CR Ferreira, PS Atwal, M Jain, A Hammers, G Charles-Edwards, CU Choe, D Isbrandt, A Cebrian-Serrano, B Davies, RN Sandford, C Pugh, DS Konecki, S Povey, D Bockenhauer, U Lichter-Konecki, WA Gahl, RJ Unwin, R Warth, R Kleta
Erratum: Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations (The American Journal of Human Genetics (2017) 101(5) (789–802) (S0002929717303877) (10.1016/j.ajhg.2017.09.018))
S Sanna-Cherchi, K Khan, R Westland, P Krithivasan, L Fievet, HM Rasouly, I Ionita-Laza, VP Capone, DA Fasel, K Kiryluk, S Kamalakaran, M Bodria, Edgar Otto, Matthew Sampson, CE Gillies, V Vega-Warner, K Vukojevic, I Pediaditakis, GS Makar, A Mitrotti, M Verbitsky, J Martino, Q Liu, YJ Na, V Goj, G Ardissino, M Gigante, L Gesualdo, M Janezcko, M Zaniew, CL Mendelsohn, S Shril, F Hildebrandt, JAE van Wijk, A Arapovic, M Saraga, L Allegri, C Izzi, F Scolari, V Tasic, GM Ghiggeri, A Latos-Bielenska, A Materna-Kiryluk, S Mane, DB Goldstein, RP Lifton, N Katsanis, EE Davis, AG Gharavi
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
S Sanna-Cherchi, K Khan, R Westland, P Krithivasan, L Fievet, HM Rasouly, I Ionita-Laza, VP Capone, DA Fasel, K Kiryluk, S Kamalakaran, M Bodria, Edgar Otto, Matthew Sampson, CE Gillies, V Vega-Warner, K Vukojevic, I Pediaditakis, GS Makar, A Mitrotti, M Verbitsky, J Martino, Q Liu, YJ Na, V Goj, G Ardissino, M Gigante, L Gesualdo, M Janezcko, M Zaniew, CL Mendelsohn, S Shril, F Hildebrandt, JAE van Wijk, A Arapovic, M Saraga, L Allegri, C Izzi, F Scolari, V Tasic, GM Ghiggeri, A Latos-Bielenska, A Materna-Kiryluk, S Mane, DB Goldstein, RP Lifton, N Katsanis, EE Davis, AG Gharavi
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease
H Lu, MCR Galeano, E Ott, G Kaeslin, PJ Kausalya, C Kramer, N Ortiz-Brüchle, N Hilger, V Metzis, M Hiersche, SY Tay, R Tunningley, S Vij, AD Courtney, B Whittle, E Wühl, U Vester, B Hartleben, S Neuber, V Frank, MH Little, D Epting, P Papathanasiou, AC Perkins, GD Wright, W Hunziker, HY Gee, Edgar Otto, K Zerres, F Hildebrandt, S Roy, C Wicking, C Bergmann
Genetic drivers of kidney defects in the digeorge syndrome
E Lopez-Rivera, YP Liu, M Verbitsky, BR Anderson, VP Capone, Edgar Otto, Z Yan, A Mitrotti, J Martino, NJ Steers, DA Fasel, K Vukojevic, R Deng, SE Racedo, Q Liu, M Werth, R Westland, A Vivante, GS Makar, M Bodria, Matthew Sampson, CE Gillies, V Vega-Warner, M Maiorana, DS Petrey, B Honig, VJ Lozanovski, R Salomon, L Heidet, W Carpentier, D Gaillard, A Carrea, L Gesualdo, D Cusi, C Izzi, F Scolari, JAE Van Wijk, A Arapovic, M Saraga-Babic, M Saraga, N Kunac, A Samii, DM McDonald-McGinn, TB Crowley, EH Zackai, D Drozdz, M Miklaszewska, M Tkaczyk, P Sikora, M Szczepanska, M Mizerska-Wasiak, G Krzemien, A Szmigielska, M Zaniew, JM Darlow, P Puri, D Barton, E Casolari, SL Furth, BA Warady, Z Gucev, H Hakonarson, H Flogelova, V Tasic, A Latos-Bielenska, A Materna-Kiryluk, L Allegri, CS Wong, IA Drummond, V D'Agati, A Imamoto, JM Barasch, F Hildebrandt, K Kiryluk, RP Lifton, BE Morrow, C Jeanpierre, VE Papaioannou, GM Ghiggeri, AG Gharavi, N Katsanis, S Sanna-Cherchi
A Familial Infantile Renal Failure
SK Sethi, N Wadhwani, P Jha, R Duggal, V Vega-Warner, R Raina, SB Bansal, V Kher, Matthew Sampson, Edgar Otto
FAT1 mutations cause a glomerulotubular nephropathy
HY Gee, CE Sadowski, PK Aggarwal, JD Porath, TA Yakulov, M Schueler, S Lovric, S Ashraf, DA Braun, J Halbritter, H Fang, R Airik, V Vega-Warner, K Jee Cho, TA Chan, LGT Morris, C Ffrench-Constant, N Allen, H McNeill, R Büscher, H Kyrieleis, M Wallot, A Gaspert, T Kistler, DV Milford, MA Saleem, WT Keng, SI Alexander, RP Valentini, C Licht, JC Teh, R Bogdanovic, A Koziell, A Bierzynska, NA Soliman, Edgar Otto, RP Lifton, LB Holzman, NES Sibinga, G Walz, A Tufro, F Hildebrandt
MKS1 regulates ciliary INPP5E levels in Joubert syndrome
GG Slaats, CR Isabella, HY Kroes, JC Dempsey, H Gremmels, GR Monroe, IG Phelps, KJ Duran, J Adkins, SA Kumar, DM Knutzen, NV Knoers, NJ Mendelsohn, D Neubauer, SD Mastroyianni, J Vogt, L Worgan, N Karp, S Bowdin, IA Glass, MA Parisi, Edgar Otto, CA Johnson, F Hildebrandt, G van Haaften, RH Giles, D Doherty
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