Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics von Kalman, Lisa V, Lubin, Ira M, Barker, Shannon, du Sart, Desiree, Elles, Rob, Grody, Wayne W, Pazzagli, Mario, Richards, Sue, Schrijver, Iris, Zehnbauer, Barbara

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Molecular Diagnosis of Genetic Diseases von Elles, Rob

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Molecular diagnosis of genetic diseases von Elles, Rob

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Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate a... von Jackson, Gail C., Mittaz-Crettol, Laureane, Taylor, Jacqueline A., Mortier, Geert R., Spranger, Juergen, Zabel, Bernhard, Le Merrer, Martine, Cormier-Daire, Valerie, Hall, Christine M., Offiah, Amaka, Wright, Michael J., Savarirayan, Ravi, Nishimura, Gen, Ramsden, Simon C., Elles, Rob, Bonafe, Luisa, Superti-Furga, Andrea, Unger, Sheila, Zankl, Andreas, Briggs, Michael D.

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Molecular Diagnosis of Genetic Diseases von Elles, Rob, Mountford, Roger

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Novel and recurrent mutations in the C-terminal domain ofCOMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia - multiple epip... von Kennedy, Jason, Jackson, Gail C., Barker, Faye S., Nundlall, Seema, Bella, Jordi, Wright, Michael J., Mortier, Geert R., Neas, Katherine, Thompson, Elizabeth, Elles, Rob, Briggs, Michael D.

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Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias von SENECA, Sara, MORRIS, Michael A, PATTON, Simon, ELLES, Rob, SEQUEIROS, Jorge

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Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes von BOYLE, Jennifer, HAWKINS, Malcolm, METCALFE, Paul, HAWKINS, J. Ross, BARTON, David E, MEANEY, Karen, GUITART, Miriam, O'GRADY, Anna, TOBI, Simon, C RAMSDEN, Simon, ELLES, Rob, GRAY, Elaine

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Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasma von Boon, Elles M. J., Schlecht, Hélène B., Martin, Peter, Daniels, Geoff, Vossen, Rolf H. A. M., den Dunnen, Johan T., Bakker, Bert, Elles, Rob

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Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome von HAWKINS, Malcolm, BOYLE, Jennifer, BURNS, Chris, STACEY, Glyn, GRAY, Elaine, METCALFE, Paul, HAWKINS, J. Ross, WRIGHT, Kathleen E, ELLES, Rob, RAMSDEN, Simon C, O'GRADY, Anna, SWEENEY, Michael, BARTON, David E, BURGESS, Trent, MOORE, Melanie

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Erratum: Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome von Hawkins, Malcolm, Boyle, Jennifer, Wright, Kathleen E, Elles, Rob, Ramsden, Simon C, O'Grady, Anna, Sweeney, Michael, Barton, David E, Burgess, Trent, Moore, Melanie, Burns, Chris, Stacey, Glyn, Gray, Elaine, Metcalfe, Paul, Hawkins, J Ross

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Integrated Regional Genetic Services: Current And Future Provision von Donnai, Dian, Elles, Rob

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Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome von Hawkins, Malcolm, Boyle, Jennifer, Wright, Kathleen E, Elles, Rob, Ramsden, Simon C, O'grady, Anna, Sweeney, Michael, Barton, David E, Burgess, Trent, Moore, Melanie, Burns, Chris, Stacey, Glyn, Gray, Elaine, Metcalfe, Paul, Hawkins, J Ross

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COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia von KENNEDY, Jason, JACKSON, Gail, RAMSDEN, Simon, TAYLOR, Jacky, NEWMAN, William, WRIGHT, Michael J, DONNAI, Dian, ELLES, Rob, BRIGGS, Michael D

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Prenatal diagnosis in a family with X-linked hydrocephalus von Panayi, Maria, Gokhale, David, Mansour, Sahar, Elles, Rob

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Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia - multiple epi... von Kennedy, Jason, Jackson, Gail C., Barker, Faye S., Nundlall, Seema, Bella, Jordi, Wright, Michael J., Mortier, Geert R., Neas, Katherine, Thompson, Elizabeth, Elles, Rob, Briggs, Michael D.

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Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia von ZANKL, Andreas, JACKSON, Gail C, CORMIER-DAIRE, Valerie, HALL, Christine M, WRIGHT, Michael J, BONAFE, Luisa, SUPERTI-FURGA, Andrea, BRIGGS, Michael D, MITTAZ CRETTOL, Laureane, TAYLOR, Jacky, ELLES, Rob, MORTIER, Geert R, SPRANGER, Jurgen, ZABEL, Bernhard, UNGER, Sheila, LE MERRER, Martine

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overview of clinical molecular genetics von ELLES, R

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Report of an International Survey of Molecular Genetic Testing Laboratories von McGovern, Margaret M., Elles, Rob, Beretta, Isabella, Somerville, Martin J., Hoefler, Gerald, Keinanen, Mauri, Barton, David, Carson, Nancy, Dequeker, Elisabeth, Brdicka, Radim, Blazkova, Alena, Aymé, Ségolène, Schnieders, Birgit, Müller, Clemens R., Dalen, Vibeke, Martinez, Armando Albert, Kristoffersson, Ulf, Ozguc, Meral, Mueller, Hansjakob, Boone, Joe, Lubin, Ira M., Sequeiros, Jorge, Taruscio, Domenica, Williamson, Bob, Mainland, Lynn, Yoshikura, Hiroshi, Ronchi, Elettra

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An Overview of Clinical Molecular Genetics von Elles, Rob

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