Publications

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. 

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DL, Hauser N , Reid E et al (2021) Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3..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.

Balasubramanian M. Osteogenesis Imperfecta: An overview; UpToDate, 2023

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

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

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

Balasubramanian M. HNRNPU-Related Neurodevelopmental Disorder. 2022 Mar 10. 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. ASXL3-Related Disorder. 2020 Nov 5. 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/)