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Number of items: 27.

Article

Watson, CM orcid.org/0000-0003-2371-1844, Crinnion, LA, Hewitt, S et al. (6 more authors) (2019) Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications. Laboratory Investigation. ISSN 0023-6837

Blok, LS, Rousseau, J, Twist, J et al. (376 more authors) (2019) CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018). Nature Communications, 10. 883. ISSN 2041-1723

Vijayakrishnan, J, Studd, J, Broderick, P et al. (37 more authors) (2018) Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia. Nature Communications, 9 (1). 1340. ISSN 2041-1723

Hartill, VL, Van de Hoek, G, Patel, MP et al. (25 more authors) (2018) DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Human Molecular Genetics, 27 (3). pp. 529-545. ISSN 0964-6906

Shoemark, A, Moya, E, Hirst, RA et al. (34 more authors) (2018) High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Thorax, 73 (2). pp. 157-166. ISSN 0040-6376

Bishop, C, Small, N, Mason, D et al. (5 more authors) (2017) Improving case ascertainment of congenital anomalies: findings from a prospective birth cohort with detailed primary care record linkage. BMJ paediatrics open, 1 (1). e000171. ISSN 2399-9772

Nguyen, TTM, Murakami, Y, Sheridan, E orcid.org/0000-0002-7237-6280 et al. (29 more authors) (2017) Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. American Journal of Human Genetics, 101 (5). pp. 856-865. ISSN 0002-9297

Diggle, CP orcid.org/0000-0001-6861-359X, Martinez-Garay, I, Molnar, Z et al. (17 more authors) (2017) A Tubulin Alpha 8 Mouse Knockout Model Indicates a Likely Role in Spermatogenesis but Not in Brain Development. PLoS ONE, 12 (4). e0174264.

Vijayakrishnan, J, Kumar, R, Henrion, MYR et al. (26 more authors) (2017) A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1. Leukemia, 31 (3). pp. 573-579. ISSN 0887-6924

McRae, JF, Clayton, S, Fitzgerald, TW et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542. pp. 433-438. ISSN 0028-0836

Vijayakrishnan, J, Kumar, R, Henrion, M Y R et al. (26 more authors) (2017) A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1. Leukemia. pp. 573-579. ISSN 0887-6924

Watson, CM, Crinnion, LA, Harrison, SM et al. (5 more authors) (2016) A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome. PLoS Neglected Tropical Diseases, 11 (6). e0157075. ISSN 1932-6203

Diggle, CP, Sukoff Rizzo, SJ, Popiolek, M et al. (39 more authors) (2016) Biallelic mutations in PDE10A lead to loss of striatal PDE10A and a hyperkinetic movement disorder with onset in infancy. American Journal of Human Genetics, 98 (4). pp. 735-743. ISSN 0002-9297

Makrythanasis, P, Kato, M, Zaki, MS et al. (18 more authors) (2016) Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. American Journal of Human Genetics, 98 (4). pp. 615-626. ISSN 0002-9297

Watson, CM, Crinnion, LA, Murphy, H et al. (8 more authors) (2016) Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia. Journal of Medical Genetics, 53 (4). pp. 264-269. ISSN 0022-2593

Logan, CV, Cossins, J, Cruz, PMR et al. (16 more authors) (2015) Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain. American Journal of Human Genetics, 97 (6). pp. 878-885. ISSN 0002-9297

Vijayakrishnan, J, Henrion, M, Moorman, AV et al. (24 more authors) (2015) The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A. Scientific Reports, 5. 15065. ISSN 2045-2322

Kelmemi, W, Teeuw, ME, Bochdanovits, Z et al. (17 more authors) (2015) Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome. BMC Medical Genetics, 16. 50. ISSN 1471-2350

El-Asrag, ME, Sergouniotis, PI, McKibbin, M et al. (16 more authors) (2015) Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement. American Journal of Human Genetics, 96 (6). 948 - 954. ISSN 0002-9297

Cohen, K, Tzika, A, Wood, H et al. (4 more authors) (2015) Diagnosis of fetal submicroscopic chromosomal abnormalities in failed array CGH samples: copy number by sequencing as an alternative to microarrays for invasive fetal testing. Ultrasound in Obstetrics and Gynecology, 45 (4). 394 - 401. ISSN 0960-7692

Diggle, CP, Moore, DJ, Mali, G et al. (21 more authors) (2014) HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus. PLoS Genetics, 10 (9). ARTN e1004577. ISSN 1553-7390

Watson, CM, Crinnion, LA, Morgan, JE et al. (10 more authors) (2014) Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. Human Mutation, 35 (4). 434 - 441. ISSN 1059-7794

Watson, CM, El-Asrag, M, Parry, DA et al. (11 more authors) (2014) Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. PLoS One, 9 (8). 0104281. ISSN 1932-6203

Poulter, JA, Al-Araimi, M, Conte, I et al. (26 more authors) (2013) Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism. American Journal of Human Genetics, 93 (6). 1143 - 1150. ISSN 0002-9297

Al-Araimi, M, Pal, B, Poulter, JA et al. (10 more authors) (2013) A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. Molecular Vision, 19. 2165 - 2172. ISSN 1090-0535

Roscioli, T, Kamsteeg, E-J, Buysse, K et al. (32 more authors) (2012) Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nature Genetics, 44 (5). pp. 581-585. ISSN 1061-4036

Khan, K, Logan, CV, McKibbin, M et al. (18 more authors) (2012) Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. Human Molecular Genetics, 21 (4). pp. 776-783. ISSN 0964-6906

This list was generated on Mon Oct 21 00:37:17 2019 BST.