Items where authors include "Study, D.D.D."

Article

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

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

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

Zawerton, A., Yao, B., Yeager, J.P. et al. (13 more authors) (2019) De Novo SOX4 variants cause a neurodevelopmental disease associated with mild dysmorphism. The American Journal of Human Genetics, 104 (2). pp. 246-259. ISSN 0002-9297

Yates, T.M., Ng, O.-H., Offiah, A.C. orcid.org/0000-0001-8991-5036 et al. (4 more authors) (2019) Cerebrofaciothoracic dysplasia: four new patients with a recurrent TMCO1 pathogenic variant. American Journal of Medical Genetics Part A, 179 (1). pp. 43-49. 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

Faundes, V., Newman, W.G., Bernardini, L. et al. (20 more authors) (2018) Histone lysine methylases and demethylases in the landscape of human developmental disorders. American Journal of Human Genetics, 102 (1). pp. 175-187. 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

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

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

Proceedings Paper

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.