Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Braun, Daniela A.; Rao, Jia; Mollet, Geraldine; Schapiro, David; Daugeron, Marie-Claire; Tan, Weizhen; Gribouval, Olivier; Boyer, Olivia; Revy, Patrick; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Lawson, Jennifer A.; Schanze, Denny; Ashraf, Shazia; Ullmann, Jeremy F. P.; Hoogstraten, Charlotte A.; Boddaert, Nathalie; Collinet, Bruno; Martin, Gaëlle; Liger, Dominique; Lovric, Svjetlana; Furlano, Monica; Guerrera, I. Chiara; Sanchez-Ferras, Oraly; Hu, Jennifer F.; Boschat, Anne-Claire; Sanquer, Sylvia; Menten, Björn; Vergult, Sarah; De Rocker, Nina; Airik, Merlin; Hermle, Tobias; Shril, Shirlee; Widmeier, Eugen; Gee, Heon Yung; Choi, Won-Il; Sadowski, Carolin E.; Pabst, Werner L.; Warejko, Jillian K.; Daga, Ankana; Basta, Tamara; Matejas, Verena; Scharmann, Karin; Kienast, Sandra D.; Behnam, Babak; Beeson, Brendan; Begtrup, Amber; Bruce, Malcolm; Ch'ng, Gaik-Siew; Lin, Shuan-Pei; Chang, Jui-Hsing; Chen, Chao-Huei; Cho, Megan T.; Gaffney, Patrick M.; Gipson, Patrick E.; Hsu, Chyong-Hsin; Kari, Jameela A.; Ke, Yu-Yuan; Kiraly-Borri, Cathy; Lai, Wai-Ming; Lemyre, Emmanuelle; Littlejohn, Rebecca Okashah; Masri, Amira; Moghtaderi, Mastaneh; Nakamura, Kazuyuki; Ozaltin, Fatih; Praet, Marleen; Prasad, Chitra; Prytula, Agnieszka; Roeder, Elizabeth R.; Rump, Patrick; Schnur, Rhonda E.; Shiihara, Takashi; Sinha, Manish D.; Soliman, Neveen A.; Soulami, Kenza; Sweetser, David A.; Tsai, Wen-Hui; Tsai, Jeng-Daw; Topaloglu, Rezan; Vester, Udo; Viskochil, David H.; Vatanavicharn, Nithiwat; Waxler, Jessica L.; Wierenga, Klaas J.; Wolf, Matthias T. F.; Wong, Sik-Nin; Leidel, Sebastian A.; Truglio, Gessica; Dedon, Peter C.; Poduri, Annapurna; Mane, Shrikant; Lifton, Richard P.; Bouchard, Maxime; Kannu, Peter; Chitayat, David; Magen, Daniella; Callewaert, Bert; van Tilbeurgh, Herman; Zenker, Martin; Antignac, Corinne; Hildebrandt, Friedhelm

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Geraldine Mollet
Braun et al., 2017

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Nature Research, Nature Genetics, 10(49), p. 1529-1538, 2017

DOI: 10.1038/ng.3933

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@article{Braun2017,
  author = {Braun, Daniela A. and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A. and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F. P. and Hoogstraten, Charlotte A. and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaëlle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I. Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F. and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Gee, Heon Yung and Choi, Won-Il and Sadowski, Carolin E. and Pabst, Werner L. and Warejko, Jillian K. and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sandra D. and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T. and Gaffney, Patrick M. and Gipson, Patrick E. and Hsu, Chyong-Hsin and Kari, Jameela A. and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R. and Rump, Patrick and Schnur, Rhonda E. and Shiihara, Takashi and Sinha, Manish D. and Soliman, Neveen A. and Soulami, Kenza and Sweetser, David A. and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H. and Vatanavicharn, Nithiwat and Waxler, Jessica L. and Wierenga, Klaas J. and Wolf, Matthias T. F. and Wong, Sik-Nin and Leidel, Sebastian A. and Truglio, Gessica and Dedon, Peter C. and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P. and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and van Tilbeurgh, Herman and Zenker, Martin and Antignac, Corinne and Hildebrandt, Friedhelm},
  doi = {10.1038/ng.3933},
  journal = {Nature Genetics},
  month = {aug},
  pages = {1529-1538},
  title = {Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly},
  url = {http://www.nature.com/articles/ng.3933.pdf},
  volume = {49},
  year = {2017}
}

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