Publications

Balasubramanian M, Fratzl-Zelman N, O’Sullivan R, Bull M, Peel NFA, Pollitt RC, Jones RC, Milne E, Smith K, Roschger P, Klaushofer K, Bishop NJ. Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties. Am J Med Genet A, 2018 [In Press]

Balasubramanian M, Jenkins TM, Kirk RJ, Nesbitt IM, Olpin SE, Hill M, Gillett GT.

Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II

deficiency, common but under-recognised: Lessons to be learnt. Molecular Genetics and Metabolism Reports. https://doi.org/10.1016/j.ymgmr.2018.02.008

Balasubramanian M, Jones R, Milne E, Marshall C, Arundel P, Smith K, Bishop NJ. Autism and heritable bone fragility: A true association? Bone Reports. 2018. https://doi.org/10.1016/j.bonr.2018.04.002

Martin HC et al., Quantifying the contribution of recessive coding variation to developmental disorders. Science. 2018 [In press]

Schirwani S, Wakeling E, Smith K, DDD Study, Balasubramanian M. ZDHHC9: Expanding the molecular basis and phenotypic spectrum of ZDHHC9 associated X-linked intellectual disability. Am J Med Genet A. 2018 [In Press]

Willoughby J, Duff-Farrier C, Desurkar A, Kurian M, Raghavan A, Balasubramanian M. Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient. Am J Med Genet A. 2018 [In press]

Balasubramanian M, Jenkins TM, Kirk RJ, Nesbitt IM, Olpin SE, Hill M, Gillett GT. Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: lessons to be learnt. Mol Genetics and Metabolism Reports.15:69-70 01 Jun 2018

Zarate et al., Natural history and Genotype-Phenotype correlations in 72 individuals with SATB2-Associated Syndrome. Am J Med Genet A. 2018 Feb 13. doi: 10.1002/ajmg.a.38630. 

Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M*, Ingrid E. Scheffer*. Childhood-Onset Generalized Epilepsy in Bainbridge-Ropers Syndrome. Epilepsy Res. 2018;140:166-170.*Joint senior authors

Koczkowska et al., Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848., The American Journal of Human Genetics. 2018; 102(1):69-87. https://doi.org/10.1016/j.ajhg.2017.12.001

Balasubramanian M, Padidela R, Pollitt RC, Bishop NJ, Mughal MZ, Offiah AC, Wagner BE, McCaughey J, Stephens DJ. P4HB recurrent missense mutation causing Cole-Carpenter syndrome. J Med Genet. 2018; 55(3):158-165. doi:10.1136/jmedgenet-2017-104899.