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Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

Wang, Zheng ; Iida, Aritoshi ; Miyake, Noriko ; Nishiguchi, Koji M ; Fujita, Kosuke ; Nakazawa, Toru ; Alswaid, Abdulrahman ; Albalwi, Mohammed A ; Kim, Ok-Hwa ; Cho, Tae-Joon ; Lim, Gye-Yeon ; Isidor, Bertrand ; David, Albert ; Rustad, Cecilie F ; Merckoll, Else ; Westvik, Jostein ; Stattin, Eva-Lena ; Grigelioniene, Giedre ; Kou, Ikuyo ; Nakajima Wang, Zheng (correspondence author) ; Wang, Zheng (record owner)

PloS one, 2016, Vol.11(3), p.e0150555 [Peer Reviewed Journal]

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Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.

Wang, Zheng ; Horemuzova, Eva ; Iida, Aritoshi ; Guo, Long ; Liu, Ying ; Matsumoto, Naomichi ; Nishimura, Gen ; Nordgren, Ann ; Miyake, Noriko ; Tham, Emma ; Grigelioniene, Giedre ; Ikegawa, Shiro Wang, Zheng (correspondence author) ; Wang, Zheng (record owner)

Journal of human genetics, April 2017, Vol.62(4), pp.503-506 [Peer Reviewed Journal]

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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

van Rheenen, Wouter ; Shatunov, Aleksey ; Dekker, Annelot M ; Mclaughlin, Russell L ; Diekstra, Frank P ; Pulit, Sara L ; van Der Spek, Rick A A ; Võsa, Urmo ; de Jong, Simone ; Robinson, Matthew R ; Yang, Jian ; Fogh, Isabella ; van Doormaal, Perry Tc ; Tazelaar, Gijs H P ; Koppers, Max ; Blokhuis, Anna M ; Sproviero, William ; Jones, Ashley R ; Kenna van Rheenen, Wouter (correspondence author) ; van Rheenen, Wouter (record owner)

Nature genetics, September 2016, Vol.48(9), pp.1043-1048 [Peer Reviewed Journal]

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Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.

Mcinerney-Leo, Aideen M ; Wheeler, Lawrie ; Marshall, Mhairi S ; Anderson, Lisa K ; Zankl, Andreas ; Brown, Matthew A ; Leo, Paul J ; Wicking, Carol ; Duncan, Emma L Mcinerney-Leo, Aideen M (correspondence author) ; Mcinerney-Leo, Aideen M (record owner)

American journal of medical genetics. Part A, June 2017, Vol.173(6), pp.1698-1704 [Peer Reviewed Journal]

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  1. Iida, Aritoshi
  2. Miyake, Noriko
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