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

Por Raymond, F. Lucy, Whibley, Annabel, Stratton, Michael R., Gecz, Jozef
Publicado em 2009

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

Por Bathelt, Joe, Astle, Duncan, Barnes, Jessica, Raymond, F. Lucy, Baker, Kate
Publicado no Neuroimage Clin (2016)

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

Por Bathelt, Joe, Barnes, Jessica, Raymond, F Lucy, Baker, Kate, Astle, Duncan
Publicado no Cereb Cortex (2017)

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

Por Baker, Kate, Scerif, Gaia, Astle, Duncan E, Fletcher, Paul C, Raymond, F Lucy
Publicado no J Neurodev Disord (2015)

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

Por Farmer, George D., Gray, Harry, Chandratillake, Gemma, Raymond, F Lucy, Freeman, Alexandra L. J.
Publicado no Eur J Hum Genet (2020)

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

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

Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations

Por Baker, Kate, Astle, Duncan E, Scerif, Gaia, Barnes, Jessica, Smith, Jennie, Moffat, Georgina, Gillard, Jonathan, Baldeweg, Torsten, Raymond, F Lucy
Publicado no 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

Por Takatani, Rieko, Molinaro, Angelo, Grigelioniene, Giedre, Tafaj, Olta, Watanabe, Tomoyuki, Reyes, Monica, Sharma, Amita, Singhal, Vibha, Raymond, F Lucy, Linglart, Agnès, Jüppner, Harald
Publicado no J Bone Miner Res (2015)

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

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

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

Por 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
Publicado no Front Genet (2019)

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

Por 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.
Publicado em 2010

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

Por 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
Publicado no Mol Genet Genomic Med (2020)

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

Por 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.
Publicado em 2014

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

Por 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
Publicado em 2010

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

Por 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
Publicado em 2012

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

Por 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
Publicado no Sci Rep (2017)

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

Por 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
Publicado no Sci Rep (2018)

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

Por 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.
Publicado em 2008

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

Por 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.
Publicado em 2014

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

Por 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
Publicado no Intensive Care Med (2019)