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Page 1
P4HB recurrent missense mutation causing Cole-Carpenter syndrome.
Balasubramanian M, Padidela R, Pollitt RC, Bishop NJ, Mughal MZ, Offiah AC, Wagner BE, McCaughey J, Stephens DJ. Balasubramanian M, et al. Among authors: pollitt rc. J Med Genet. 2018 Mar;55(3):158-165. doi: 10.1136/jmedgenet-2017-104899. Epub 2017 Dec 20. J Med Genet. 2018. PMID: 29263160 Free article.
CRTAP mutation in a patient with Cole-Carpenter syndrome.
Balasubramanian M, Pollitt RC, Chandler KE, Mughal MZ, Parker MJ, Dalton A, Arundel P, Offiah AC, Bishop NJ. Balasubramanian M, et al. Among authors: pollitt rc. Am J Med Genet A. 2015 Mar;167A(3):587-91. doi: 10.1002/ajmg.a.36916. Epub 2015 Jan 21. Am J Med Genet A. 2015. PMID: 25604815
Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties.
Balasubramanian M, Fratzl-Zelman N, O'Sullivan R, Bull M, Fa Peel N, Pollitt RC, Jones R, Milne E, Smith K, Roschger P, Klaushofer K, Bishop NJ. Balasubramanian M, et al. Among authors: pollitt rc. Am J Med Genet A. 2018 Jul;176(7):1578-1586. doi: 10.1002/ajmg.a.38830. Epub 2018 May 7. Am J Med Genet A. 2018. PMID: 29736964 Free article.
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
Giunta C, Baumann M, Fauth C, Lindert U, Abdalla EM, Brady AF, Collins J, Dastgir J, Donkervoort S, Ghali N, Johnson DS, Kariminejad A, Koch J, Kraenzlin M, Lahiri N, Lozic B, Manzur AY, Morton JEV, Pilch J, Pollitt RC, Schreiber G, Shannon NL, Sobey G, Vandersteen A, van Dijk FS, Witsch-Baumgartner M, Zschocke J, Pope FM, Bönnemann CG, Rohrbach M. Giunta C, et al. Among authors: pollitt rc. Genet Med. 2018 Jan;20(1):42-54. doi: 10.1038/gim.2017.70. Epub 2017 Jun 15. Genet Med. 2018. PMID: 28617417 Free PMC article.
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
Balasubramanian M, Hurst J, Brown S, Bishop NJ, Arundel P, DeVile C, Pollitt RC, Crooks L, Longman D, Caceres JF, Shackley F, Connolly S, Payne JH, Offiah AC, Hughes D; DDD Study; Parker MJ, Hide W, Skerry TM. Balasubramanian M, et al. Among authors: pollitt rc. Bone. 2017 Jan;94:65-74. doi: 10.1016/j.bone.2016.10.023. Epub 2016 Oct 24. Bone. 2017. PMID: 27789416 Free PMC article.
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.
Vandersteen AM, Lund AM, Ferguson DJ, Sawle P, Pollitt RC, Holder SE, Wakeling E, Moat N, Pope FM. Vandersteen AM, et al. Among authors: pollitt rc. Am J Med Genet A. 2014 Feb;164A(2):386-91. doi: 10.1002/ajmg.a.36285. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311407
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