Publications

Sethuraman, C., Keigwin, S., Delaney, S., Makino, S., Hirst, J., Baker, D., Arundel, P., Padidela, R., Davies, J.H., Crowe, B., DeVile, C. and Balasubramanian, M. (2026). Complexity of genomic diagnosis: Lessons learnt from the UK Biobank and Generation study newborn genome sequencing analyses. Bone, 212, p.118009.

Woods, E., Holmes, N., Gooch, C., Denommé-Pichon, A.-S., Vitobello, A., Vincent, M., Pavlidou, E., Ververi, A., Verhoeven, V.J.M., van Slegtenhorst, M.A., Dixit, A., Sarkar, A. and Balasubramanian, M. (2026). Broadening the inherited ASXL3 spectrum and unveiling molecular mechanisms through detailed genotypic-phenotypic analyses. Genetics in Medicine Open, 4, p.104409.

Balasubramanian, M., Bain, J.M. and Gillentine, M.A. (2026). SYNCRIP-Related neurodevelopmental disorder. [online] ncbibooks. 

Supari, N., Baker, D., Keigwin, S., Delaney, S., Makino, S. and Balasubramanian, M. (2026). Reclassification of variants of uncertain significance in type I collagen genes: A national reference laboratory experience. Journal of Medical Genetics, 63(5), pp.jmg-2025–111334.

Woods, E., Low, K.J., Cole, T.J. and Balasubramanian, M. (2025). Gene‐specific growth charts for ASXL3 ‐related disorder. American Journal of Medical Genetics Part A, 200(4), pp.978–981.

Woods, E., Holmes, N., Denommé‐Pichon, A.S., Vincent, M., Belova, N., Gooch, C., Isidor, B., Ockeloen, C.W., Pavlidou, E., Stewart, H., Verhoeven, M., Ververi, A., Dixit, A., Sarkar, A., Legg, R., Reid, E. and Balasubramanian, M. (2025). An international ASXL3 natural history study: Deep phenotypic analyses including detailed reports of a milder phenotype, novel associations, and clinical recommendations. American Journal of Medical Genetics Part A, 197(11), pp.e64157-e64157.

Elkhateeb, N., Crookes, R., Spiller, M., Pavinato, L., Palermo, F., Brusco, A., Parker, M., Park, S.-M., Mendes, A.C., Saraiva, J.M., Hammer, T.B., Nazaryan-Petersen, L., Barakat, T.S., Wilke, M., Bhoj, E., Ahrens-Nicklas, R.C., Li, D., Nomakuchi, T., Brilstra, E.H., Hunt, D., Johnson, D., Mansour, S., Oprych, K., Mehta, S.G., Platzer, K., Schnabel, F., Kiep, H., Faust, H., Prinzing, G., Wiltrout, K., Radley, J.A., Serrano Russi, A.H., Atallah, I., Campos-Xavier, B., Amor, D.J., Morgan, A.T., Fagerberg, C., Andersen, U.A., Andersen, C.B., Bijlsma, E.K., Bird, L.M., Mullegama, S.V., Green, A., Isidor, B., Cogné, B., Kenny, J., Lynch, S.A., Quin, S., Low, K., Herget, T., Kortüm, F., Levy, R.J., Morrison, J.L., Wheeler, P.G., Narumanch, T., Peron, K., Matthews, N., Uhlman, J., Bell, L., Pang, L., Scurr, I., Belles, R.S., Salbert, B.A., Schaefer, G.B., Green, S., Ros, A., Rodríguez-Palmero, A., Višnjar, T., Writzl, K., Vasudevan, P.C. and Balasubramanian, M. (2025). Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder. Genetics in medicine : official journal of the American College of Medical Genetics, [online] 27(3), p.101348.

Vilaca, T., Gossiel, F., Delaney, S., Baker, D., Keigwin, S., Eastell, R. and Balasubramanian, M. (2025). Family mapping of previously identified patients with pathogenic or likely pathogenic ALPL variants using predictive genotyping and detailed phenotyping approach: The FAME case-control study. JBMR Plus, 9(5).

Hodgson, A.K.O., Baxandall, L., Aiyedun, D., Li, A., Au, B., Bain, J.M., Gillentine, M.A., Goel, H., Kline, A. D, Ricupero, C.L., Sánchez‐Carpintero, R., Seward, E.P., Sidlow, R., Wilson, S.A. and Balasubramanian, M. (2025). Expanding the phenotypic spectrum of HNRNPU‐related disorder, documenting the first familial presentation and comprehensive review. American Journal of Medical Genetics Part A, 197(6).

Woods, E., Holmes, N., Albaba, S., Evans, I.R. and Balasubramanian, M. (2024). ASXL3‐related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism. Clinical Genetics, 105(5), pp.470–487.

Lee, S., Ochoa, E., Badura‐Stronka, M., Donnelly, D., Lederer, D., Lynch, S.A., Gardham, A., Morton, J., Stewart, H., Docquier, F., Rodger, F., Martín, E., Toribio, A.L., Maher, E.R. and Balasubramanian, M. (2023). Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome. European Journal of Human Genetics, 31(9), pp.1040–1047.

Schirwani, S., Woods, E., Koolen, D.A., Ockeloen, C.W., Lynch, S.A., Kavanagh, K., Graham, J.M., Grand, K., Pierson, T.M., Chung, J.M. and Balasubramanian, M. (2022). Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype. American Journal of Medical Genetics Part A, [online] 191(1), pp.29–36.

Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Nemeth AH, Tofaris GK, Hay E , Hughes I et al (2022) The phenotypic continuum of ATPLA3-related disorders. Neurology, 99(14). 

Taylor J, Spiller M, Ranguin K, Vitobello A, Philippe C, Bruel A, Cappuccio G, Brunetti‐Pierri N, Willems M, Isidor B , Park K et al (2022) Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. American Journal of Medical Genetics Part A. 

Thornley P, Bishop N, Baker D, Brock J, Arundel P, Burren C, Smithson S, DeVile C, Crowe B, Allgrove J , Saraff V et al (2021) Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study. Archives of Disease in Childhood. 

Durkin A, DeVile C, Arundel P, Bull M, Walsh J, Bishop NJ, Hupin E, Parekh S, Nadarajah R, Offiah AC , Calder A et al (2021) Expanding the phenotype of SPARC-related osteogenesis imperfecta : clinical findings in two patients with pathogenic variants in SPARC and literature review. Journal of Medical Genetics. 

Schirwani S, Albaba S, Carere DA, Guillen Sacoto MJ, Milan Zamora F, Si Y, Rabin R, Pappas J, Renaud DL, Hauser N , Reid E et al (2021) Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.. American Journal of Medical Genetics Part A, 185(11), 3446-3458.

Lenz D, Pahl J, Hauck F, Alameer S, Balasubramanian M, Baric I, Boy N, Church JA, Crushell E, Dick A , Distelmaier F et al (2021) NBAS variants are associated with quantitative and qualitative NK and B cell deficiency. Journal of Clinical Immunology, 41(8), 1781-1793.

Balasubramanian M, Dingemans AJM, Albaba S, Richardson R, Yates TM, Cox H, Douzgou S, Armstrong R, Sansbury FH, Burke KB , Fry AE et al (2021) Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. European Journal of Human Genetics, 29(4), 625-636. 

Durkin A, Albaba S, Fry AE, Morton JE, Douglas A, Beleza A, Williams D, Volker‐Touw CML, Lynch SA, Canham N , Clowes V et al (2020) Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review. American Journal of Medical Genetics Part A, 182(7), 1637-1654.

Balasubramanian M, Padidela R, Pollitt RC, Bishop NJ, Mughal MZ, Offiah AC, Wagner BE, McCaughey J & Stephens DJ (2018) P4HB recurrent missense mutation causing Cole-Carpenter syndrome. Journal of Medical Genetics, 55(3), 158-165. 

Balasubramanian M, Hurst J, Brown S, Bishop NJ, Arundel P, DeVile C, Pollitt RC, Crooks L, Longman D, Caceres JF , Shackley F et al (2017) Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.. BONE, 94, 65-74. 

Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger AM, Sureka DL, Lester T, Johnson DS , Bowen J et al (2016) Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.. Journal of Medical Genetics.

Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW , Foulds N et al (2015) Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nature Genetics, 47(11), 1363-1369. 

Balasubramanian, M., Bain, J.M. and Gillentine, M.A. (2026). SYNCRIP-Related neurodevelopmental disorder. [online] ncbibooks. 

Balasubramanian M. (2026). Osteogenesis Imperfecta: An overview. UpToDate

Balasubramanian M. (2024). Collagenopathies – Osteogenesis imperfecta and related disorders. In Kumar, D., Wilde, A., & Elliott, P. (Eds), Genomic and Molecular Cardiovascular Medicine 

Balasubramanian M. (2017). Clinical and Molecular Heterogeneity of Osteogenesis Imperfecta. Morgan & Claypool Publishers LLC (pp. 1-63). 

Balasubramanian M, Cohen MC & Scheimberg I. (2014) Is this a syndrome? Patterns in genetic conditions, The Pediatric and Perinatal Autopsy Manual. Cambridge University Press. (pp. 105-119).

Balasubramanian M. (2022). HNRNPU-Related Neurodevelopmental Disorder. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993–2022.

Balasubramanian M, Schirwani S. (2020). ASXL3-Related Disorder. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. 

National Organization for Rare Disorders: ASXL3-related disorder

National Organization for Rare Disorders: HNRNPU-related disorder 

Unique charity guides for these genetic disorders: USP7, IQSEC2, HNRNPU, ASXL3, SIN3A; 16p11.3 & 2q33 deletion syndrome (https://www.rarechromo.org/disorder-guides/)