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

по Raymond, F. Lucy, Whibley, Annabel, Stratton, Michael R., Gecz, Jozef
Опубликовано 2009

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

по Bathelt, Joe, Astle, Duncan, Barnes, Jessica, Raymond, F. Lucy, Baker, Kate
Опубликовано в: Neuroimage Clin (2016)

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

по Bathelt, Joe, Barnes, Jessica, Raymond, F Lucy, Baker, Kate, Astle, Duncan
Опубликовано в: Cereb Cortex (2017)

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

по Baker, Kate, Scerif, Gaia, Astle, Duncan E, Fletcher, Paul C, Raymond, F Lucy
Опубликовано в: J Neurodev Disord (2015)

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

по Farmer, George D., Gray, Harry, Chandratillake, Gemma, Raymond, F Lucy, Freeman, Alexandra L. J.
Опубликовано в: Eur J Hum Genet (2020)

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

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

Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations

по Baker, Kate, Astle, Duncan E, Scerif, Gaia, Barnes, Jessica, Smith, Jennie, Moffat, Georgina, Gillard, Jonathan, Baldeweg, Torsten, Raymond, F Lucy
Опубликовано в: 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

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

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

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

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

по 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
Опубликовано в: Front Genet (2019)

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

по 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.
Опубликовано 2010

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

по 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
Опубликовано в: Mol Genet Genomic Med (2020)

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

по 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.
Опубликовано 2014

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

по 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
Опубликовано 2010

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

по 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
Опубликовано 2012

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

по 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
Опубликовано в: Sci Rep (2017)

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

по 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
Опубликовано в: Sci Rep (2018)

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

по 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.
Опубликовано 2008

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

по 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.
Опубликовано 2014

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

по 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
Опубликовано в: Intensive Care Med (2019)