Raymond, F. Lucy

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., et al. (2009) · Nature Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 603

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

Dolzhenko, E., Deshpande, V., Schlesinger, F., Krusche, P., Petrovski, R., Chen, S., Emig-Agius, D., Gross, A., Narzisi, G., Bowman, B., et al. (2019) · Bioinformatics

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 394

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

Woods, C. G., Cox, J., Springell, K., Hampshire, D. J., Mohamed, M. D., McKibbin, M., Stern, R., Raymond, F. L., Sandford, R., Malik Sharif, S., et al. (2006) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 262

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

Gilfillan, G. D., Selmer, K. K., Roxrud, I., Smith, R., Kyllerman, M., Eiklid, K., Kroken, M., Mattingsdal, M., Egeland, T., Stenmark, H., et al. (2008) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 232

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Ibañez, K., Polke, J., Hagelstrom, R. T., Dolzhenko, E., Pasko, D., Thomas, E. R. A., Daugherty, L. C., Kasperaviciute, D., Smith, K. R., McDonagh, E. M., et al. (2022) · The Lancet Neurology

Genetic Neurodegenerative DiseasesGenomics and Rare Diseases

Cited by 187

Mutations in the DLG3 Gene Cause Nonsyndromic X-Linked Mental Retardation

Tarpey, P., Parnau, J., Blow, M., Woffendin, H., Bignell, G., Cox, C., Cox, J., Davies, H., Edkins, S., Holden, S., et al. (2004) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research

Cited by 176

Psychiatric disorders in children with 16p11.2 deletion and duplication

Niarchou, M., Chawner, S. J. R. A., Doherty, J. L., Maillard, A. M., Jacquemont, S., Chung, W. K., Green-Snyder, L., Bernier, R. A., Goin-Kochel, R. P., Hanson, E., et al. (2019) · Translational Psychiatry

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 156

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

Tarpey, P. S., Stevens, C., Teague, J., Edkins, S., O’Meara, S., Avis, T., Barthorpe, S., Buck, G., Butler, A., Cole, J., et al. (2006) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersCellular transport and secretion

Cited by 123

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H. E., Bakker, D. P., Barwick, K., Bonfert, M. V., Bönnemann, C. G., Brilstra, E. H., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 47

Vitamin A deficiency due to bi-allelic mutation of RBP4: There’s more to it than meets the eye

Khan, K. N., Carss, K., Raymond, F. L., Islam, F., NIHR BioResource-Rare Diseases Consortium, Moore, A. T., Michaelides, M., & Arno, G. (2017) · Ophthalmic Genetics

Retinal Development and DisordersRetinoids in leukemia and cellular processes

Cited by 26

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

Sanchis-Juan, A., Megy, K., Stephens, J., Armirola Ricaurte, C., Dewhurst, E., Low, K., French, C. E., Grozeva, D., Stirrups, K., Erwood, M., et al. (2023) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalities

Cited by 24

Global and local connectivity differences converge with gene expression in a neurodevelopmental disorder of known genetic origin

Bathelt, J., Barnes, J., Raymond, F. L., Baker, K., & Astle, D. (2017) · Cerebral Cortex

Functional Brain Connectivity StudiesGenetics and Neurodevelopmental Disorders

Cited by 15