Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene von Nishiguchi, Koji M., Tearle, Richard G., Liu, Yangfan P., Oh, Edwin C., Miyake, Noriko, Benaglio, Paola, Harper, Shyana, Koskiniemi-Kuendig, Hanna, Venturini, Giulia, Sharon, Dror, Koenekoop, Robert K., Nakamura, Makoto, Kondo, Mineo, Ueno, Shinji, Yasuma, Tetsuhiro R., Beckmann, Jacques S., Ikegawa, Shiro, Matsumoto, Naomichi, Terasaki, Hiroko, Berson, Eliot L., Katsanis, Nicholas, Rivolta, Carlo

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Genome sequencing identifies major causes of severe intellectual disability von Gilissen, Christian, Hehir-Kwa, Jayne Y., Thung, Djie Tjwan, van de Vorst, Maartje, van Bon, Bregje W. M., Willemsen, Marjolein H., Kwint, Michael, Janssen, Irene M., Hoischen, Alexander, Schenck, Annette, Leach, Richard, Klein, Robert, Tearle, Rick, Bo, Tan, Pfundt, Rolph, Yntema, Helger G., de Vries, Bert B. A., Kleefstra, Tjitske, Brunner, Han G., Vissers, Lisenka E. L. M., Veltman, Joris A.

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Genome sequencing identifies major causes of severe intellectual disability von Gilissen, Christian, Hehir-Kwa, Jayne Y, Thung, Djie Tjwan, van de Vorst, Maartje, van Bon, Bregje W.M, Willemsen, Marjolein H, Kwint, Michael, Janssen, Irene M, Hoischen, Alexander, Schenck, Annette, Leach, Richard, Klein, Robert, Tearle, Rick, Bo, Tan, Pfundt, Rolph, Yntema, Helger G, de Vries, Bert B.A, Kleefstra, Tjitske, Brunner, Han G, Vissers, Lisenka E.L.M, Veltman, Joris A

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Genome sequencing identifies major causes of severe intellectual disability von Gilissen, Christian, Hehir-Kwa, Jayne Y, Thung, Djie Tjwan, van de Vorst, Maartje, van Bon, Bregje W.M, Willemsen, Marjolein H, Kwint, Michael, Janssen, Irene M, Hoischen, Alexander, Schenck, Annette, Leach, Richard, Klein, Robert, Tearle, Rick, Bo, Tan, Pfundt, Rolph, Yntema, Helger G, de Vries, Bert B.A, Kleefstra, Tjitske, Brunner, Han G, Vissers, Lisenka E.L.M, Veltman, Joris A

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