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Human mutation, 2014-01, Vol.35 (1), p.137-146
- Thomas, Sophie
- Wright, Kevin J.
- Corre, Stéphanie Le
- Micalizzi, Alessia
- Romani, Marta
- Abhyankar, Avinash
- Saada, Julien
- Perrault, Isabelle
- Amiel, Jeanne
- Litzler, Julie
- Filhol, Emilie
- Elkhartoufi, Nadia
- Kwong, Mandy
- Casanova, Jean-Laurent
- Boddaert, Nathalie
- Baehr, Wolfgang
- Lyonnet, Stanislas
- Munnich, Arnold
- Burglen, Lydie
- Chassaing, Nicolas
- Encha-Ravazi, Ferechté
- Vekemans, Michel
- Gleeson, Joseph G.
- Valente, Enza Maria
- Jackson, Peter K.
- Drummond, Iain A.
- Saunier, Sophie
- Attié-Bitach, Tania
2014
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American journal of kidney diseases, 2021-03, Vol.77 (3), p.410-419
2021
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Clinical journal of the American Society of Nephrology, 2017-12, Vol.12 (12), p.1962-1973
2017
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Clinical journal of the American Society of Nephrology, 2017-12, Vol.12 (12), p.1974-1983
- König, Jens
- Kranz, Birgitta
- König, Sabine
- Schlingmann, Karl Peter
- Titieni, Andrea
- Tönshoff, Burkhard
- Habbig, Sandra
- Pape, Lars
- Häffner, Karsten
- Hansen, Matthias
- Büscher, Anja
- Bald, Martin
- Billing, Heiko
- Schild, Raphael
- Walden, Ulrike
- Hampel, Tobias
- Staude, Hagen
- Riedl, Magdalena
- Gretz, Norbert
- Lablans, Martin
- Bergmann, Carsten
- Hildebrandt, Friedhelm
- Omran, Heymut
- Konrad, Martin
2017
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The Journal of cell biology, 2011-03, Vol.192 (6), p.1023-1041
2011
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Lancet neurology, 2013-09, Vol.12 (9), p.894-905
2013
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Genetics in medicine, 2017-08, Vol.19 (8), p.875-882
- Vilboux, Thierry
- Doherty, Daniel A
- Glass, Ian A
- Parisi, Melissa A
- Phelps, Ian G
- Cullinane, Andrew R
- Zein, Wadih
- Brooks, Brian P
- Heller, Theo
- Soldatos, Ariane
- Oden, Neal L
- Yildirimli, Deniz
- Vemulapalli, Meghana
- Mullikin, James C
- Nisc Comparative Sequencing Program
- Malicdan, May Christine V
- Gahl, William A
- Gunay-Aygun, Meral
2017
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Journal of medical genetics, 2015-08, Vol.52 (8), p.514-522
- Bachmann-Gagescu, R
- Dempsey, J C
- Phelps, I G
- O'Roak, B J
- Knutzen, D M
- Rue, T C
- Ishak, G E
- Isabella, C R
- Gorden, N
- Adkins, J
- Boyle, E A
- de Lacy, N
- O'Day, D
- Alswaid, A
- Ramadevi A, Radha
- Lingappa, L
- Lourenço, C
- Martorell, L
- Garcia-Cazorla, À
- Ozyürek, H
- Haliloğlu, G
- Tuysuz, B
- Topçu, M
- Chance, P
- Parisi, M A
- Glass, I A
- Shendure, J
- Doherty, D
2015
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Journal of the American Society of Nephrology, 2018-06, Vol.29 (6), p.1772-1779
- Snoek, Rozemarijn
- van Setten, Jessica
- Keating, Brendan J
- Israni, Ajay K
- Jacobson, Pamala A
- Oetting, William S
- Matas, Arthur J
- Mannon, Roslyn B
- Zhang, Zhongyang
- Zhang, Weijia
- Hao, Ke
- Murphy, Barbara
- Reindl-Schwaighofer, Roman
- Heinzl, Andreas
- Oberbauer, Rainer
- Viklicky, Ondrej
- Conlon, Peter J
- Stapleton, Caragh P
- Bakker, Stephan J L
- Snieder, Harold
- Peters, Edith D J
- van der Zwaag, Bert
- Knoers, Nine V A M
- de Borst, Martin H
- van Eerde, Albertien M
2018
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Nature cell biology, 2017-10, Vol.19 (10), p.1178
2017
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American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.229-249
- Bachmann‐Gagescu, Ruxandra
- Dempsey, Jennifer C.
- Bulgheroni, Sara
- Chen, Maida L.
- D'Arrigo, Stefano
- Glass, Ian A.
- Heller, Theo
- Héon, Elise
- Hildebrandt, Friedhelm
- Joshi, Nirmal
- Knutzen, Dana
- Kroes, Hester Y.
- Mack, Stephen H.
- Nuovo, Sara
- Parisi, Melissa A.
- Snow, Joseph
- Summers, Angela C.
- Symons, Jordan M.
- Zein, Wadih M.
- Boltshauser, Eugen
- Sayer, John A.
- Gunay‐Aygun, Meral
- Valente, Enza Maria
- Doherty, Dan
2020
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Neurobiology of disease, 2021-03, Vol.150, p.105236-105236, Article 105236
2021
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Human molecular genetics, 2017-12, Vol.26 (23), p.4657-4667
2017
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Cell, 2011-05, Vol.145 (4), p.513-528
- Sang, Liyun
- Miller, Julie J.
- Corbit, Kevin C.
- Giles, Rachel H.
- Brauer, Matthew J.
- Otto, Edgar A.
- Baye, Lisa M.
- Wen, Xiaohui
- Scales, Suzie J.
- Kwong, Mandy
- Huntzicker, Erik G.
- Sfakianos, Mindan K.
- Sandoval, Wendy
- Bazan, J. Fernando
- Kulkarni, Priya
- Garcia-Gonzalo, Francesc R.
- Seol, Allen D.
- O'Toole, John F.
- Held, Susanne
- Reutter, Heiko M.
- Lane, William S.
- Rafiq, Muhammad Arshad
- Noor, Abdul
- Ansar, Muhammad
- Devi, Akella Radha Rama
- Sheffield, Val C.
- Slusarski, Diane C.
- Vincent, John B.
- Doherty, Daniel A.
- Hildebrandt, Friedhelm
- Reiter, Jeremy F.
- Jackson, Peter K.
2011
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Pediatric nephrology (Berlin, West), 2019-08, Vol.34 (8), p.1325-1335
2019
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Proceedings of the National Academy of Sciences - PNAS, 2014-11, Vol.111 (46), p.16538-16543
2014
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Nature genetics, 2013-08, Vol.45 (8), p.951-956
- Hoff, Sylvia
- Halbritter, Jan
- Epting, Daniel
- Frank, Valeska
- Nguyen, Thanh-Minh T
- van Reeuwijk, Jeroen
- Boehlke, Christopher
- Schell, Christoph
- Yasunaga, Takayuki
- Helmstädter, Martin
- Mergen, Miriam
- Filhol, Emilie
- Boldt, Karsten
- Horn, Nicola
- Ueffing, Marius
- Otto, Edgar A
- Eisenberger, Tobias
- Elting, Mariet W
- van Wijk, Joanna A E
- Bockenhauer, Detlef
- Sebire, Neil J
- Rittig, Søren
- Vyberg, Mogens
- Ring, Troels
- Pohl, Martin
- Pape, Lars
- Neuhaus, Thomas J
- Elshakhs, Neveen A Soliman
- Koon, Sarah J
- Harris, Peter C
- Grahammer, Florian
- Huber, Tobias B
- Kuehn, E Wolfgang
- Kramer-Zucker, Albrecht
- Bolz, Hanno J
- Roepman, Ronald
- Saunier, Sophie
- Walz, Gerd
- Hildebrandt, Friedhelm
- Bergmann, Carsten
- Lienkamp, Soeren S
2013
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Current opinion in genetics & development, 2019-06, Vol.56, p.49-60
2019
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American journal of ophthalmology, 2023-08, Vol.252, p.188-204
2023
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Human genetics, 2013-08, Vol.132 (8), p.865-884
2013
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Nature genetics, 2011-08, Vol.43 (8), p.776-784
2011
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Kidney international, 2016-06, Vol.89 (6), p.1204-1210
2016
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Kidney international, 2011-12, Vol.80 (11), p.1239-1245
2011
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Nature cell biology, 2015-08, Vol.17 (8), p.1074
- Wheway, Gabrielle
- Schmidts, Miriam
- Mans, Dorus A
- Szymanska, Katarzyna
- Nguyen, Thanh-Minh T
- Racher, Hilary
- Phelps, Ian G
- Toedt, Grischa
- Kennedy, Julie
- Wunderlich, Kirsten A
- Sorusch, Nasrin
- Abdelhamed, Zakia A
- Natarajan, Subaashini
- Herridge, Warren
- van Reeuwijk, Jeroen
- Horn, Nicola
- Boldt, Karsten
- Parry, David A
- Letteboer, Stef J F
- Roosing, Susanne
- Adams, Matthew
- Bell, Sandra M
- Bond, Jacquelyn
- Higgins, Julie
- Morrison, Ewan E
- Tomlinson, Darren C
- Slaats, Gisela G
- van Dam, Teunis J P
- Huang, Lijia
- Kessler, Kristin
- Giessl, Andreas
- Logan, Clare V
- Boyle, Evan A
- Shendure, Jay
- Anazi, Shamsa
- Aldahmesh, Mohammed
- Al Hazzaa, Selwa
- Hegele, Robert A
- Ober, Carole
- Frosk, Patrick
- Mhanni, Aizeddin A
- Chodirker, Bernard N
- Chudley, Albert E
- Lamont, Ryan
- Bernier, Francois P
- Beaulieu, Chandree L
- Gordon, Paul
- Pon, Richard T
- Donahue, Clem
- Barkovich, A James
- Wolf, Louis
- Toomes, Carmel
- Thiel, Christian T
- Boycott, Kym M
- McKibbin, Martin
- Inglehearn, Chris F
- Stewart, Fiona
- Omran, Heymut
- Huynen, Martijn A
- Sergouniotis, Panagiotis I
- Alkuraya, Fowzan S
- Parboosingh, Jillian S
- Innes, A Micheil
- Willoughby, Colin E
- Giles, Rachel H
- Webster, Andrew R
- Ueffing, Marius
- Blacque, Oliver
- Gleeson, Joseph G
- Wolfrum, Uwe
- Beales, Philip L
- Gibson, Toby
- Doherty, Dan
- Mitchison, Hannah M
- Roepman, Ronald
- Johnson, Colin A
2015
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American journal of human genetics, 2013-11, Vol.93 (5), p.915-925
- Halbritter, Jan
- Bizet, Albane A.
- Schmidts, Miriam
- Porath, Jonathan D.
- Braun, Daniela A.
- Gee, Heon Yung
- McInerney-Leo, Aideen M.
- Krug, Pauline
- Filhol, Emilie
- Davis, Erica E.
- Airik, Rannar
- Czarnecki, Peter G.
- Lehman, Anna M.
- Trnka, Peter
- Nitschké, Patrick
- Bole-Feysot, Christine
- Schueler, Markus
- Knebelmann, Bertrand
- Burtey, Stéphane
- Szabó, Attila J.
- Tory, Kálmán
- Leo, Paul J.
- Gardiner, Brooke
- McKenzie, Fiona A.
- Zankl, Andreas
- Brown, Matthew A.
- Hartley, Jane L.
- Maher, Eamonn R.
- Li, Chunmei
- Leroux, Michel R.
- Scambler, Peter J.
- Zhan, Shing H.
- Jones, Steven J.
- Kayserili, Hülya
- Tuysuz, Beyhan
- Moorani, Khemchand N.
- Constantinescu, Alexandru
- Krantz, Ian D.
- Kaplan, Bernard S.
- Shah, Jagesh V.
- Hurd, Toby W.
- Doherty, Dan
- Katsanis, Nicholas
- Duncan, Emma L.
- Otto, Edgar A.
- Beales, Philip L.
- Mitchison, Hannah M.
- Saunier, Sophie
- Hildebrandt, Friedhelm
2013
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