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• A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.

  Stange K, Désir J, Kakar N, Mueller TD, Budde BS, Gordon CT, Horn D, Seemann P, Borck G. Stange K, et al. Orphanet J Rare Dis. 2015 Jun 24;10:84. doi: 10.1186/s13023-015-0299-5. Orphanet J Rare Dis. 2015. PMID: 26105076 Free PMC article.
• Early-onset Lafora body disease.

  Turnbull J, Girard JM, Lohi H, Chan EM, Wang P, Tiberia E, Omer S, Ahmed M, Bennett C, Chakrabarty A, Tyagi A, Liu Y, Pencea N, Zhao X, Scherer SW, Ackerley CA, Minassian BA. Turnbull J, et al. Brain. 2012 Sep;135(Pt 9):2684-98. doi: 10.1093/brain/aws205. Brain. 2012. PMID: 22961547 Free PMC article.
• Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.

  Heidari A, Tongsook C, Najafipour R, Musante L, Vasli N, Garshasbi M, Hu H, Mittal K, McNaughton AJ, Sritharan K, Hudson M, Stehr H, Talebi S, Moradi M, Darvish H, Arshad Rafiq M, Mozhdehipanah H, Rashidinejad A, Samiei S, Ghadami M, Windpassinger C, Gillessen-Kaesbach G, Tzschach A, Ahmed I, Mikhailov A, Stavropoulos DJ, Carter MT, Keshavarz S, Ayub M, Najmabadi H, Liu X, Ropers HH, Macheroux P, Vincent JB. Heidari A, et al. Hum Mol Genet. 2015 Oct 15;24(20):5697-710. doi: 10.1093/hmg/ddv286. Epub 2015 Jul 23. Hum Mol Genet. 2015. PMID: 26206890 Free PMC article.
• A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy.

  Oda T, Xiong H, Kobayashi K, Wang S, Satake W, Jiao H, Yang Y, Cha PC, Hayashi YK, Nishino I, Suzuki Y, Sugano S, Wu X, Toda T. Oda T, et al. Hum Genome Var. 2015 Jul 16;2:15022. doi: 10.1038/hgv.2015.22. eCollection 2015. Hum Genome Var. 2015. PMID: 27081534 Free PMC article.
• Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.

  Weisschuh N, Aisenbrey S, Wissinger B, Riess A. Weisschuh N, et al. Mol Vis. 2012;18:174-80. Epub 2012 Jan 21. Mol Vis. 2012. PMID: 22312185 Free PMC article.