Items where authors include "Balasubramanian, M."
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Cetica, V. orcid.org/0000-0001-8549-4158, Pisano, T. orcid.org/0000-0001-8920-9078, Lesca, G. orcid.org/0000-0001-7691-9492 et al. (31 more authors) (2024) Clinical and molecular characterization of patients with YWHAG‐related epilepsy. Epilepsia. ISSN 0013-9580
Woods, E. orcid.org/0000-0003-2349-2688, Holmes, N., Albaba, S. et al. (2 more authors) (2024) ASXL3‐related disorder: molecular phenotyping and comprehensive review providing insights into disease mechanism. Clinical Genetics. ISSN 0009-9163
Lee, S., Ochoa, E., Badura-Stronka, M. et al. (12 more authors) (2023) Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome. European Journal of Human Genetics, 31 (9). pp. 1040-1047. ISSN 1018-4813
Niggl, E. orcid.org/0000-0002-5654-8425, Bouman, A., Briere, L.C. et al. (345 more authors) (2023) HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. The American Journal of Human Genetics, 110 (8). pp. 1414-1435. ISSN 0002-9297
Middleton, A., Taverner, N., Houghton, C. et al. (3 more authors) (2023) Scope of professional roles for genetic counsellors and clinical geneticists in the United Kingdom: position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society. European Journal of Human Genetics, 31 (1). pp. 9-12. ISSN 1476-5438
Woods, E., Marson, I., Coci, E. et al. (14 more authors) (2022) Expanding the phenotype of TAB2 variants and literature review. American Journal of Medical Genetics Part A, 188 (11). pp. 3331-3342. ISSN 1552-4825
Sabanathan, S., Gulhane, D., Mankad, K. et al. (10 more authors) (2022) Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review. Neuromuscular Disorders. ISSN 0960-8966
Vezyroglou, A., Akilapa, R., Barwick, K. et al. (26 more authors) (2022) The phenotypic continuum of ATPLA3-related disorders. Neurology, 99 (14). ISSN 0028-3878
Schirwani, S., Woods, E., Koolen, D.A. et al. (8 more authors) (2022) Familial Bainbridge-Ropers syndrome: report of familial ASXL3 inheritance and a milder phenotype. American Journal of Medical Genetics Part A. ISSN 1552-4825
Souche, E., Beltran, S., Brosens, E. et al. (28 more authors) (2022) Recommendations for whole genome sequencing in diagnostics for rare diseases. European Journal of Human Genetics, 30 (9). pp. 1017-1021. ISSN 1018-4813
Woods, E., Yates, M., Kanani, F. et al. (1 more author) (2022) Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata. Clinical Dysmorphology, 31 (3). pp. 132-135. ISSN 0962-8827
McMahon, M.H., Tahir, N. and Balasubramanian, M. orcid.org/0000-0003-1488-3695 (2022) GLMN causing vascular malformations: the clinical and genetic differentiation of cutaneous venous malformations. BMJ Case Reports, 15 (6). e246114. ISSN 1757-790X
Taylor, J., Spiller, M., Ranguin, K. et al. (9 more authors) (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, 188 (5). pp. 1497-1514. ISSN 1552-4825
Thornley, P., Bishop, N. orcid.org/0000-0001-7263-8546, Baker, D. et al. (10 more authors) (2022) Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study. Archives of Disease in Childhood, 107 (5). pp. 486-490. ISSN 0003-9888
Taylor, J. and Balasubramanian, M. orcid.org/0000-0003-1488-3695 (2022) First-line genome sequencing is here to stay, but how crucial is clinical phenotyping going to be? BMJ Case Reports, 15 (3). e247238. ISSN 1757-790X
Richardson, R., Baralle, D., Bennett, C. et al. (19 more authors) (2022) Further delineation of phenotypic spectrum of SCN2A-related disorder. American Journal of Medical Genetics Part A, 188 (3). pp. 867-877. ISSN 1552-4825
Woods, E., Spiller, M. and Balasubramanian, M. orcid.org/0000-0003-1488-3695 (2022) Report of two children with global developmental delay in association with de novo TLK2 variant and literature review. American Journal of Medical Genetics Part A, 188 (3). pp. 931-940. ISSN 1552-4825
Campanini, E.H., Baker, D., Arundel, P. et al. (9 more authors) (2021) High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to BMP1 and C-propeptide cleavage variants in COL1A1. Bone Reports, 15. 101102.
Redman, M.G., Wagner, B.E., Cadden, S. et al. (5 more authors) (2021) Rough endoplasmic reticulum expansion : a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta. Ultrastructural Pathology, 45 (6). pp. 414-420. ISSN 0191-3123
Lenz, D., Pahl, J., Hauck, F. et al. (22 more authors) (2021) NBAS variants are associated with quantitative and qualitative NK and B cell deficiency. Journal of Clinical Immunology, 41 (8). pp. 1781-1793. ISSN 0271-9142
Oates, S., Absoud, M., Goyal, S. et al. (32 more authors) (2021) ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. Clinical Genetics, 100 (4). pp. 412-429. ISSN 0009-9163
Anderson, E., Lam, Z., Arundel, P. et al. (2 more authors) (2021) Expanding the phenotype of SETD5-related disorder and presenting a novel association with bone fragility. Clinical Genetics, 100 (3). pp. 352-354. ISSN 0009-9163
Durkin, A., DeVile, C., Arundel, P. et al. (11 more authors) (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. ISSN 0022-2593
Wright, C.F., Quaife, N.M., Ramos-Hernández, L. et al. (31 more authors) (2021) Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. American Journal of Human Genetics, 108 (6). pp. 1083-1094. ISSN 0002-9297
Balasubramanian, M. orcid.org/0000-0003-1488-3695, Dingemans, A.J.M., Albaba, S. et al. (36 more authors) (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). pp. 625-636. ISSN 1018-4813
Zarate, Y.A., Bosanko, K.A., Thomas, M.A. et al. (18 more authors) (2021) Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2. Clinical Genetics, 99 (4). pp. 547-557. ISSN 0009-9163
Desborough, R., Nicklin, P., Gossiel, F. et al. (5 more authors) (2021) Clinical and biochemical characteristics of adults with hypophosphatasia attending a metabolic bone clinic. Bone, 144. 115795. ISSN 8756-3282
Yates, T.M., Campeau, P.M., Ghoumid, J. et al. (6 more authors) (2020) Biallelic variants in GLE1 with survival beyond neonatal period. Clinical Genetics, 98 (6). pp. 622-625. ISSN 0009-9163
Redman, M.G., Wagner, B.E. and Balasubramanian, M. (2020) Osteogenesis Imperfecta type I : the role of deep phenotyping in a patient with a ruptured uterus. European Journal of Medical Genetics, 63 (12). 104095. ISSN 1769-7212
Calpena, E., Cuellar, A., Bala, K. et al. (20 more authors) (2020) SMAD6 variants in craniosynostosis : genotype and phenotype evaluation. Genetics in Medicine, 22 (9). pp. 1498-1506. ISSN 1098-3600
Apperley, L.J., Richmond, S., Ramakrishnan, R. et al. (1 more author) (2020) Osteogenesis imperfecta type 1 with an incidental finding of bilateral radioulnar synostosis. Clinical Dysmorphology, 29 (3). pp. 155-157. ISSN 0962-8827
Durkin, A., Albaba, S., Fry, A.E. et al. (19 more authors) (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). pp. 1637-1654. ISSN 1552-4825
Schirwani, S., Hauser, N., Platt, A. et al. (6 more authors) (2020) Mosaicism in ASXL3-related syndrome : description of five patients from three families. European Journal of Medical Genetics, 63 (6). 103925. ISSN 1769-7212
Yates, T.M., Drucker, M., Barnicoat, A. et al. (19 more authors) (2020) ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. Human Mutation, 41 (5). pp. 1042-1050. ISSN 1059-7794
Krab, L.C., Marcos-Alcalde, I., Assaf, M. et al. (23 more authors) (2020) Delineation of phenotypes and genotypes related to cohesin structural protein RAD21. Human Genetics, 139. pp. 575-592. ISSN 0340-6717
Kanani, F., Titheradge, H., Cooper, N. et al. (10 more authors) (2020) Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy. American Journal of Medical Genetics Part A, 182 (4). pp. 713-720. ISSN 1552-4825
Lam, Z., Albaba, S., Study, D.D.D. et al. (1 more author) (2020) Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants. Clinical Dysmorphology, 29 (1). pp. 10-16. ISSN 0962-8827
Balasubramanian, M. orcid.org/0000-0003-1488-3695, Hobson, E., Skae, M. et al. (2 more authors) (2019) Developing pathways to clarify pathogenicity of unclassified variants in osteogenesis imperfecta genetic analysis. Molecular Genetics & Genomic Medicine, 7 (12). e912.
Kruszka, P., Berger, S.I., Casa, V. et al. (32 more authors) (2019) Cohesin complex-associated holoprosencephaly. Brain, 142 (9). pp. 2631-2643. ISSN 0006-8950
Zarate, Y.A. orcid.org/0000-0001-8235-6200, Bosanko, K.A., Caffrey, A.R. et al. (45 more authors) (2019) Mutation update for the SATB2 gene. Human Mutation, 40 (8). pp. 1013-1029. ISSN 1059-7794
Kanani, F., Mordekar, S., Parker, M.J. et al. (2 more authors) (2019) Dual diagnosis causing severe phenotype in a patient with Angelman syndrome. Clinical Dysmorphology, 28 (3). pp. 158-161. ISSN 0962-8827
Balasubramanian, M. orcid.org/0000-0003-1488-3695, Verschueren, A., Kleevens, S. et al. (9 more authors) (2019) Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature. Bone, 121. pp. 191-195. ISSN 8756-3282
Radley, J.A. orcid.org/0000-0002-0776-0091, O'Sullivan, R.B.G., Turton, S.E. et al. (14 more authors) (2019) Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype. Clinical Genetics, 95 (4). pp. 496-506. ISSN 0009-9163
Schirwani, S., McConnell, V., Willoughby, J. et al. (2 more authors) (2019) Exploring the association between SRPX2 variants and neurodevelopment: How causal is it? Gene, 685. pp. 50-54. ISSN 0378-1119
Balasubramanian, M. orcid.org/0000-0003-1488-3695, Johnson, D.S. and DDD Study (2019) MAN1B-CDG: Novel variants with a distinct phenotype and review of literature. European Journal of Medical Genetics, 62 (2). pp. 109-114.
Kanani, F. orcid.org/0000-0003-4388-0290, Parker, M.J., Burren, C.P. et al. (2 more authors) (2019) Clinical report follow up: Type 1 Collagenopathy presenting with a Russell-Silver phenotype. American Journal of Medical Genetics Part A , 179 (1). pp. 139-140. ISSN 1552-4825
Martin, H.C., Jones, W.D., McIntyre, R. et al. (37 more authors) (2018) Quantifying the contribution of recessive coding variation to developmental disorders. Science, 362 (6419). pp. 1161-1164. ISSN 0036-8075
Myers, K.A., White, S.M., Mohammed, S. et al. (6 more authors) (2018) Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170]. Epilepsy Research, 147. p. 121. ISSN 0920-1211
Kanani, F., Study, D. and Balasubramanian, M. orcid.org/0000-0003-1488-3695 (2018) SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature. Clinical Dysmorphology, 27 (4). pp. 113-115. ISSN 0962-8827
Balasubramanian, M. orcid.org/0000-0003-1488-3695, Jenkins, T.M., Kirk, R.J. et al. (4 more authors) (2018) Response to Finsterer: CPT-II deficiency needs to be detected in army personnel. Molecular Genetics and Metabolism Reports, 16. p. 12.
Yates, T.M., Suri, M., Desurkar, A. et al. (8 more authors) (2018) SLC35A2-related congenital disorder of glycosylation: Defining the phenotype. European Journal of Paediatric Neurology. ISSN 1090-3798
Balasubramanian, M. orcid.org/0000-0003-1488-3695, Fratzl-Zelman, N., O'Sullivan, R. et al. (9 more authors) (2018) Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties. American Journal of Medical Genetics Part A, 176 (7). pp. 1578-1586. ISSN 1552-4825
Balasubramanian, M. orcid.org/0000-0003-1488-3695, Jenkins, T.M., Kirk, R.J. et al. (4 more authors) (2018) Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt. Molecular Genetics and Metabolism Reports, 15. pp. 69-70. ISSN 2214-4269
Balasubramanian, M. orcid.org/0000-0003-1488-3695, Jones, R., Milne, E. orcid.org/0000-0003-0127-0718 et al. (4 more authors) (2018) Autism and heritable bone fragility: A true association? Bone Rep, 8. pp. 156-162. ISSN 2352-1872
Schirwani, S. orcid.org/0000-0001-9602-4063, Wakeling, E., Smith, K. et al. (2 more authors) (2018) Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability. American Journal of Medical Genetics Part A, 176 (5). pp. 1238-1244. ISSN 1552-4825
Willoughby, J. orcid.org/0000-0002-8185-5849, Duff-Farrier, C., Desurkar, A. et al. (4 more authors) (2018) Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient. American Journal of Medical Genetics Part A, 176 (5). pp. 1049-1054. ISSN 1552-4825
Schirwani, S., Smith, K. and Balasubramanian, M. orcid.org/0000-0003-1488-3695 (2018) Clinical and molecular characterization of the first familial report of 1p32 microdeletion. Clinical Dysmorphology, 27 (2). pp. 36-41. ISSN 0962-8827
Low, T., Kostakis, A. and Balasubramanian, M. orcid.org/0000-0003-1488-3695 (2018) Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa. Ophthalmic Genetics , 39 (2). pp. 286-287. ISSN 1381-6810
Zarate, Y.A., Smith-Hicks, C.L., Greene, C. et al. (55 more authors) (2018) Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. American Journal of Medical Genetics Part A, 176 (4). pp. 925-935. ISSN 1552-4825
Balasubramanian, M. orcid.org/0000-0003-1488-3695, Padidela, R., Pollitt, R.C. orcid.org/0000-0002-8864-397X et al. (6 more authors) (2018) P4HB recurrent missense mutation causing Cole-Carpenter syndrome. Journal of Medical Genetics, 55 (3). pp. 158-165. ISSN 0022-2593
Myers, K.A., White, S.M., Mohammed, S. et al. (6 more authors) (2018) Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome. Epilepsy Research, 140. pp. 166-170. ISSN 0920-1211
Koczkowska, M., Chen, Y., Callens, T. et al. (72 more authors) (2018) Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. American Journal of Human Genetics, 102 (1). pp. 69-87. ISSN 0002-9297
Green, C., Willoughby, J., Study, D.D.D. et al. (1 more author) (2017) De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus. American Journal of Medical Genetics Part A, 173 (2). pp. 3165-3171. ISSN 1552-4825
Yates, T.M., Vasudevan, P.C., Chandler, K.E. et al. (5 more authors) (2017) De novo mutations in HNRNPU result in a neurodevelopmental syndrome. American Journal of Medical Genetics Part A, 173 (11). pp. 3003-3012. ISSN 1552-4825
Balasubramanian, M. orcid.org/0000-0003-1488-3695, Willoughby, J., Fry, A.E. et al. (10 more authors) (2017) Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. Journal of Medical Genetics, 54 (8). pp. 537-543. ISSN 0022-2593
Webb, E.A., Balasubramanian, M., Fratzl-Zelman, N. et al. (16 more authors) (2017) Phenotypic spectrum in osteogenesis imperfecta due to mutations in TMEM38B: unravelling a complex cellular defect. Journal of Clinical Endocrinology and Metabolism, 102 (6). pp. 2019-2028. ISSN 0021-972X
Jewell, R., Sarkar, A., Jones, R. et al. (4 more authors) (2017) Atypical osteogenesis imperfecta caused by a 17q21.33 deletion involving COL1A1. Clinical Dysmorphology. ISSN 0962-8827
McRae, J.F., Clayton, S., Fitzgerald, T.W. et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542 (7642). pp. 433-438. ISSN 0028-0836
Cartwright, A., Smith, K. and Balasubramanian, M. orcid.org/0000-0003-1488-3695 (2017) Short case report: Xq23 deletion involving PAK3 as a novel cause of developmental delay in a 6-year-old boy. Clinical Dysmorphology, 26 (1). pp. 38-40. ISSN 0962-8827
Balasubramanian, M. orcid.org/0000-0003-1488-3695 (2017) Clinical and molecular heterogeneity of osteogenesis imperfecta. Colloquium Series on Genomic and Molecular Medicine, 6 (1). pp. 1-63. ISSN 2167-7840
Marshall, C., Lopez, J., Crookes, L. et al. (2 more authors) (2016) A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly. Gene, 595 (1). pp. 49-52. ISSN 0378-1119
Marshall, C.J., Arundel, P., Mushtaq, T. et al. (4 more authors) (2016) Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta. American Journal of Medical Genetics Part A, 170 (12). pp. 3303-3307. ISSN 1552-4825
Balasubramanian, M. orcid.org/0000-0003-1488-3695, Lord, H., Levesque, S. et al. (14 more authors) (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. ISSN 0022-2593
Pollitt, R.C. orcid.org/0000-0002-8864-397X, Saraff, V., Dalton, A. et al. (10 more authors) (2016) Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations. American Journal of Medical Genetics Part A. ISSN 1552-4825
Dimitri, P., De Franco, E., Habeb, A.M. et al. (8 more authors) (2016) An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 ( GLIS3 ). American Journal of Medical Genetics Part A. ISSN 1552-4825
Balasubramanian, M. orcid.org/0000-0003-1488-3695, Sobey, G.J., Wagner, B.E. et al. (6 more authors) (2016) Osteogenesis imperfecta: Ultrastructural and histological findings on examination of skin revealing novel insights into genotype-phenotype correlation. Ultrastructural Pathology, 40 (2). pp. 71-76. ISSN 0191-3123
Balasubramanian, M. orcid.org/0000-0003-1488-3695, Hurst, J., Brown, S. et al. (16 more authors) (2016) Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. Bone, 94. pp. 65-74. ISSN 8756-3282
Akawi, N., McRae, J., Ansari, M. et al. (40 more authors) (2015) Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nature Genetics, 47 (11). pp. 1363-1369. ISSN 1061-4036
Fitzgerald, T.W., Gerety, S.S., Jones, W.D. et al. (263 more authors) (2015) Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519. pp. 223-228. ISSN 0028-0836
Atack, E., Fairtlough, H., Smith, K. et al. (1 more author) (2014) A novel (paternally inherited) duplication 13q31.3q32.3 in a 12-year-old patient with facial dysmorphism and developmental delay. Molecular Syndromology, 5 (5). pp. 245-250. ISSN 1661-8769
Keppler-Noreuil, K.M., Sapp, J.C., Lindhurst, M.J. et al. (28 more authors) (2014) Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A, 164A (7). pp. 1713-1733. ISSN 1552-4825
Proceedings Paper
Cebe, T., Balasubramanian, M. orcid.org/0000-0003-1488-3695, Green, N. et al. (1 more author) (2022) Abstract 2122: Visualization of collagen fibre structure in osteogenesis imperfecta using second harmonic generation imaging on polycaprolactone scaffold. In: Tissue Engineering Part A. 6th World Congress 2021 (TERMIS2021), 15-19 Nov 2021, Maastricht, Netherlands. Mary Ann Liebert , S601-S602.
Kanani, F., Titheradge, H., Cooper, N. et al. (10 more authors) (2019) De novo, heterozygous missense variants in YWHAG as a novel cause of developmental and epileptic encephalopathy. In: European Journal of Human Genetics. 52nd European Society of Human Genetics (ESHG) Conference, 15-18 Jun 2019, Gothenburg, Sweden. Springer Nature , pp. 1471-1472.
Peacock, A., Offiah, A.C. orcid.org/0000-0001-8991-5036, Balasubramanian, M. orcid.org/0000-0003-1488-3695 et al. (2 more authors) (2019) Radiographic evidence of zoledronic acid given during pregnancy - a case report. In: Bone Abstracts. 9th International Conference on Children's Bone Health, 22-25 Jun 2019, Salzburg, Austria. Bioscientifica .
Low, T., Kostakis, A. and Balasubramanian, M. orcid.org/0000-0003-1488-3695 (2018) Compound heterozygous variants in IFT140 as a cause of non-syndromic Retinitis Pigmentosa. In: European Journal of Human Genetics. 50th European Society of Human Genetics Conference, 27-30 May 2017, Copenhagen, Denmark. Springer Nature , p. 851.
Zarate, Y.A., Gambello, M., Pandya, A. et al. (19 more authors) (2018) Phenotype and natural history in 49 individuals with SATB2- associated syndrome. In: American Journal of Medical Genetics Part A. 38th Annual David W. Smith Workshop on Malformations and Morphogenesis, 26-29 Aug 2017, Stowe, VT. Wiley , pp. 1526-1527.
Balasubramanian, M., Hurst, J., DeVile, C. et al. (8 more authors) (2017) NBAS variants causing a novel form of inherited bone fragility. In: Bone Abstracts. 8th International Conference on Children's Bone Health , 10-13 Jun 2017, Wurzburg, Germany. Bioscientifica , Bristol, UK .
Sithambaram, S., Bishop, N., Shankar, L. et al. (5 more authors) (2017) Osteogenesis imperfecta type VI presenting as suspected physical abuse -- a report of two cases. In: Bone Abstracts. 8th International Conference on Children's Bone Health , 10-13 Jun 2017, Wurzburg, Germany. Bioscientifica , Bristol, UK .
Balasubramanian, M., Padidela, R., Pollitt, R. et al. (6 more authors) (2017) P4HB recurrent missense mutation causing Cole-Carpenter syndrome: exploring the underlying mechanism. In: Bone Abstracts. 8th International Conference on Children's Bone Health, 10-13 Jun 2017, Würzburg, Germany. Bioscientifica .
Preprint
Copeland, H., Low, K.J., Wynn, S. et al. (89 more authors) (2023) Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders. [Preprint] (Submitted)