Lessons learnt from large-scale exon re-sequencing of the X chromosome

由 Raymond, F. Lucy, Whibley, Annabel, Stratton, Michael R., Gecz, Jozef
出版 2009

Structural brain abnormalities in a single gene disorder associated with epilepsy, language impairment and intellectual disability

由 Bathelt, Joe, Astle, Duncan, Barnes, Jessica, Raymond, F. Lucy, Baker, Kate
發表在 Neuroimage Clin (2016)

Global and Local Connectivity Differences Converge With Gene Expression in a Neurodevelopmental Disorder of Known Genetic Origin

由 Bathelt, Joe, Barnes, Jessica, Raymond, F Lucy, Baker, Kate, Astle, Duncan
發表在 Cereb Cortex (2017)

Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: a functional network phenotyping study

由 Baker, Kate, Scerif, Gaia, Astle, Duncan E, Fletcher, Paul C, Raymond, F Lucy
發表在 J Neurodev Disord (2015)

Recommendations for designing genetic test reports to be understood by patients and non-specialists

由 Farmer, George D., Gray, Harry, Chandratillake, Gemma, Raymond, F Lucy, Freeman, Alexandra L. J.
發表在 Eur J Hum Genet (2020)

Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

由 Whibley, Annabel, Urquhart, Jill, Dore, Jonathan, Willatt, Lionel, Parkin, Georgina, Gaunt, Lorraine, Black, Graeme, Donnai, Dian, Raymond, F Lucy
出版 2010

Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations

由 Baker, Kate, Astle, Duncan E, Scerif, Gaia, Barnes, Jessica, Smith, Jennie, Moffat, Georgina, Gillard, Jonathan, Baldeweg, Torsten, Raymond, F Lucy
發表在 Ann Clin Transl Neurol (2015)

Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion

由 Takatani, Rieko, Molinaro, Angelo, Grigelioniene, Giedre, Tafaj, Olta, Watanabe, Tomoyuki, Reyes, Monica, Sharma, Amita, Singhal, Vibha, Raymond, F Lucy, Linglart, Agnès, Jüppner, Harald
發表在 J Bone Miner Res (2015)

Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks

由 Kerzendorfer, Claudia, Whibley, Annabel, Carpenter, Gillian, Outwin, Emily, Chiang, Shih-Chieh, Turner, Gillian, Schwartz, Charles, El-Khamisy, Sherif, Raymond, F. Lucy, O'Driscoll, Mark
出版 2010

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability

由 Sanchis-Juan, Alba, Bitsara, Christina, Low, Kay Yi, Carss, Keren J., French, Courtney E., Spasic-Boskovic, Olivera, Jarvis, Joanna, Field, Michael, Raymond, F. Lucy, Grozeva, Detelina
發表在 Front Genet (2019)

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

由 Green, Peter, Wiseman, Matthew, Crow, Yanick J., Houlden, Henry, Riphagen, Shelley, Lin, Jean-Pierre, Raymond, F. Lucy, Childs, Anne-Marie, Sheridan, Eamonn, Edwards, Sian, Josifova, Dragana J.
出版 2010

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate

由 Sanchis‐Juan, Alba, Hasenahuer, Marcia A., Baker, James A., McTague, Amy, Barwick, Katy, Kurian, Manju A., Duarte, Sofia T., Carss, Keren J., Thornton, Janet, Raymond, F. Lucy
發表在 Mol Genet Genomic Med (2020)

Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth

由 Homan, Claire C., Kumar, Raman, Nguyen, Lam Son, Haan, Eric, Raymond, F. Lucy, Abidi, Fatima, Raynaud, Martine, Schwartz, Charles E., Wood, Stephen A., Gecz, Jozef, Jolly, Lachlan A.
出版 2014

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation

由 Rujirabanjerd, Sinitdhorn, Nelson, John, Tarpey, Patrick S, Hackett, Anna, Edkins, Sarah, Raymond, F Lucy, Schwartz, Charles E, Turner, Gillian, Iwase, Shigeki, Shi, Yang, Futreal, P Andrew, Stratton, Michael R, Gecz, Jozef
出版 2010

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

由 Rujirabanjerd, Sinitdhorn, Nelson, John, Tarpey, Patrick S, Hackett, Anna, Edkins, Sarah, Raymond, F Lucy, Schwartz, Charles E, Turner, Gillian, Iwase, Shigeki, Shi, Yang, Futreal, P Andrew, Stratton, Michael R, Gecz, Jozef
出版 2012

Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability

由 Bosshard, Matthias, Aprigliano, Rossana, Gattiker, Cristina, Palibrk, Vuk, Markkanen, Enni, Backe, Paul Hoff, Pellegrino, Stefania, Raymond, F. Lucy, Froyen, Guy, Altmeyer, Matthias, Bjørås, Magnar, Dianov, Grigory L., van Loon, Barbara
發表在 Sci Rep (2017)

Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability

由 Bosshard, Matthias, Aprigliano, Rossana, Gattiker, Cristina, Palibrk, Vuk, Markkanen, Enni, Backe, Paul Hoff, Pellegrino, Stefania, Raymond, F. Lucy, Froyen, Guy, Altmeyer, Matthias, Bjørås, Magnar, Dianov, Grigory L., Loon, Barbara van
發表在 Sci Rep (2018)

Donnai–Barrow Syndrome (DBS/FOAR) in a Child With a Homozygous LRP2 Mutation Due to Complete Chromosome 2 Paternal Isodisomy

由 Kantarci, Sibel, Ragge, Nicola K., Thomas, N. Simon, Robinson, David O., Noonan, Kristin M., Russell, Meaghan K., Donnai, Dian, Raymond, F. Lucy, Walsh, Christopher A., Donahoe, Patricia K., Pober, Barbara R.
出版 2008

Longitudinal evaluation of quality of life in 288 patients with neurofibromatosis 2

由 Ferner, Rosalie E., Shaw, Adam, Evans, D. Gareth, McAleer, Dympna, Halliday, Dorothy, Parry, Allyson, Raymond, F. Lucy, Durie-Gair, Juliette, Hanemann, C. Oliver, Hornigold, Rachel, Axon, Patrick, Golding, John F.
出版 2014

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

由 French, Courtney E., Delon, Isabelle, Dolling, Helen, Sanchis-Juan, Alba, Shamardina, Olga, Mégy, Karyn, Abbs, Stephen, Austin, Topun, Bowdin, Sarah, Branco, Ricardo G., Firth, Helen, Rowitch, David H., Raymond, F. Lucy
發表在 Intensive Care Med (2019)