نتائج البحث - Sheridan, Eamonn

Response to Braun et al. حسب Sheridan, Eamonn, Bonthron, David T., Abdollahi, Mohammad R.

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Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome حسب De Vos, Michel, Hayward, Bruce E., Picton, Susan, Sheridan, Eamonn, Bonthron, David T.

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Familial Chordoma, a Tumor of Notochordal Remnants, Is Linked to Chromosome 7q33 حسب Kelley, Michael J., Korczak, Jeannette F., Sheridan, Eamonn, Yang, Xiaohong, Goldstein, Alisa M., Parry, Dilys M.

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Videoconferencing to deliver genetics services: a systematic review of telegenetics in light of the COVID-19 pandemic حسب Brown, Elizabeth G., Watts, Isabella, Beales, Emily R., Maudhoo, Ashwini, Hayward, Judith, Sheridan, Eamonn, Rafi, Imran

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Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality حسب Elpidorou, Marilena, Best, Sunayna, Poulter, James A, Hartill, Verity, Hobson, Emma, Sheridan, Eamonn, Johnson, Colin A

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Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination حسب Péron, Sophie, Metin, Ayse, Gardès, Pauline, Alyanakian, Marie-Alexandra, Sheridan, Eamonn, Kratz, Christian Peter, Fischer, Alain, Durandy, Anne

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Improving case ascertainment of congenital anomalies: findings from a prospective birth cohort with detailed primary care record linkage حسب Bishop, Chrissy, Small, Neil, Mason, Dan, Corry, Peter, Wright, John, Parslow, Roger C, Bittles, Alan H, Sheridan, Eamonn

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Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain حسب Zhang, Stella, Malik Sharif, Saghira, Chen, Ya-Chun, Valente, Enza-Maria, Ahmed, Mushtaq, Sheridan, Eamonn, Bennett, Christopher, Woods, Geoffrey

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A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome حسب Watson, Christopher M., Crinnion, Laura A., Harrison, Sally M., Lascelles, Carolina, Antanaviciute, Agne, Carr, Ian M., Bonthron, David T., Sheridan, Eamonn

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Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications حسب Watson, Christopher M., Crinnion, Laura A., Hewitt, Sarah, Bates, Jennifer, Robinson, Rachel, Carr, Ian M., Sheridan, Eamonn, Adlard, Julian, Bonthron, David T.

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Chorea-related mutations in PDE10A result in aberrant compartmentalization and functionality of the enzyme حسب Tejeda, Gonzalo S., Whiteley, Ellanor L., Deeb, Tarek Z., Bürli, Roland W., Moss, Stephen J., Sheridan, Eamonn, Brandon, Nicholas J., Baillie, George S.

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T (Brachyury) gene duplication confers major susceptibility to familial chordoma حسب Yang, Xiaohong R., Ng, David, Alcorta, David A., Liebsch, Norbert J., Sheridan, Eamonn, Li, Sufeng, Goldstein, Alisa M., Parry, Dilys M., Kelley, Michael J.

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Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia حسب Watson, Christopher M, Crinnion, Laura A, Murphy, Helen, Newbould, Melanie, Harrison, Sally M, Lascelles, Carolina, Antanaviciute, Agne, Carr, Ian M, Sheridan, Eamonn, Bonthron, David T, Smith, Audrey

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

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Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings حسب Danyel, Magdalena, Cheng, Zhuo, Jung, Christine, Boschann, Felix, Pantel, Jean Tori, Hajjir, Nurulhuda, Flöttmann, Ricarda, Schulz, Solveig, Demuth, Ilja, Sheridan, Eamonn, Mundlos, Stefan, Horn, Denise, Mensah, Martin A.

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A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1 حسب Al-Araimi, Musallam, Pal, Bishwanath, Poulter, James A., van Genderen, Maria M., Carr, Ian, Cudrnak, Tomas, Brown, Lawrence, Sheridan, Eamonn, Mohamed, Moin D., Bradbury, John, Ali, Manir, Inglehearn, Chris F., Toomes, Carmel

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Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface حسب Watson, Christopher M, Crinnion, Laura A, Morgan, Joanne E, Harrison, Sally M, Diggle, Christine P, Adlard, Julian, Lindsay, Helen A, Camm, Nick, Charlton, Ruth, Sheridan, Eamonn, Bonthron, David T, Taylor, Graham R, Carr, Ian M

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Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome حسب Thompson, Dorothy A, Feather, Sally, Stanescu, Horia C, Freudenthal, Bernard, Zdebik, Anselm A, Warth, Richard, Ognjanovic, Milos, Hulton, Sally A, Wassmer, Evangeline, van't Hoff, William, Russell-Eggitt, Isabelle, Dobbie, Angus, Sheridan, Eamonn, Kleta, Robert, Bockenhauer, Detlef

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Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing حسب Watson, Christopher M., El-Asrag, Mohammed, Parry, David A., Morgan, Joanne E., Logan, Clare V., Carr, Ian M., Sheridan, Eamonn, Charlton, Ruth, Johnson, Colin A., Taylor, Graham, Toomes, Carmel, McKibbin, Martin, Inglehearn, Chris F., Ali, Manir

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SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid حسب Parry, David A., Logan, Clare V., Stegmann, Alexander P.A., Abdelhamed, Zakia A., Calder, Alistair, Khan, Shabana, Bonthron, David T., Clowes, Virginia, Sheridan, Eamonn, Ghali, Neeti, Chudley, Albert E., Dobbie, Angus, Stumpel, Constance T.R.M., Johnson, Colin A.

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