VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions

por Freeman, Peter J., Hart, Reece K., Gretton, Liam J., Brookes, Anthony J., Dalgleish, Raymond
Publicado 2017

EMQN best practice guidelines for genetic testing in dystrophinopathies

por Fratter, Carl, Dalgleish, Raymond, Allen, Stephanie K., Santos, Rosário, Abbs, Stephen, Tuffery-Giraud, Sylvie, Ferlini, Alessandra
Publicado 2020

Dissecting the phenotypic variability of osteogenesis imperfecta

por Garibaldi, Nadia, Besio, Roberta, Dalgleish, Raymond, Villani, Simona, Barnes, Aileen M., Marini, Joan C., Forlino, Antonella
Publicado 2022

The collαgen III fibril has a “flexi-rod” structure of flexible sequences interspersed with rigid bioactive domains including two with hemostatic roles

por Parkin, J. Des, San Antonio, James D., Persikov, Anton V., Dagher, Hayat, Dalgleish, Raymond, Jensen, Shane T., Jeunemaitre, Xavier, Savige, Judy
Publicado 2017

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

por van Dijk, Fleur S, Byers, Peter H, Dalgleish, Raymond, Malfait, Fransiska, Maugeri, Alessandra, Rohrbach, Marianne, Symoens, Sofie, Sistermans, Erik A, Pals, Gerard
Publicado 2012

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

por MacArthur, Jacqueline A. L., Morales, Joannella, Tully, Ray E., Astashyn, Alex, Gil, Laurent, Bruford, Elspeth A., Larsson, Pontus, Flicek, Paul, Dalgleish, Raymond, Maglott, Donna R., Cunningham, Fiona
Publicado 2014

hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update

por Wang, Meng, Callenberg, Keith M., Dalgleish, Raymond, Fedtsov, Alexandre, Fox, Naomi K., Freeman, Peter J., Jacobs, Kevin B., Kaleta, Piotr, McMurry, Andrew J., Prlić, Andreas, Rajaraman, Veena, Hart, Reece K.
Publicado 2018

Quantifying the use of bioresources for promoting their sharing in scientific research

por Mabile, Laurence, Dalgleish, Raymond, Thorisson, Gudmundur A, Deschênes, Mylène, Hewitt, Robert, Carpenter, Jane, Bravo, Elena, Filocamo, Mirella, Gourraud, Pierre Antoine, Harris, Jennifer R, Hofman, Paul, Kauffmann, Francine, Muñoz-Fernàndez, Maria Angeles, Pasterk, Markus, Cambon-Thomsen, Anne
Publicado 2013

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

por Povey, Sue, Al Aqeel, Aida I, Cambon-Thomsen, Anne, Dalgleish, Raymond, den Dunnen, Johan T, Firth, Helen V, Greenblatt, Marc S, Barash, Carol Isaacson, Parker, Michael, Patrinos, George P, Savige, Judith, Sobrido, Maria-Jesus, Winship, Ingrid, Cotton, Richard GH
Publicado 2010

VarioML framework for comprehensive variation data representation and exchange

por Byrne, Myles, Fokkema, Ivo FAC, Lancaster, Owen, Adamusiak, Tomasz, Ahonen-Bishopp, Anni, Atlan, David, Béroud, Christophe, Cornell, Michael, Dalgleish, Raymond, Devereau, Andrew, Patrinos, George P, Swertz, Morris A, Taschner, Peter EM, Thorisson, Gudmundur A, Vihinen, Mauno, Brookes, Anthony J, Muilu, Juha
Publicado 2012

HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions

por Bruford, Elspeth A., Antonescu, Cristina R., Carroll, Andrew J., Chinnaiyan, Arul, Cree, Ian A., Cross, Nicholas C. P., Dalgleish, Raymond, Gale, Robert Peter, Harrison, Christine J., Hastings, Rosalind J., Huret, Jean-Loup, Johansson, Bertil, Le Beau, Michelle, Mecucci, Cristina, Mertens, Fredrik, Verhaak, Roel, Mitelman, Felix
Publicado 2021

Locus Reference Genomic sequences: an improved basis for describing human DNA variants

por Dalgleish, Raymond, Flicek, Paul, Cunningham, Fiona, Astashyn, Alex, Tully, Raymond E, Proctor, Glenn, Chen, Yuan, McLaren, William M, Larsson, Pontus, Vaughan, Brendan W, Béroud, Christophe, Dobson, Glen, Lehväslaiho, Heikki, Taschner, Peter EM, den Dunnen, Johan T, Devereau, Andrew, Birney, Ewan, Brookes, Anthony J, Maglott, Donna R
Publicado 2010