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Lancaster O, Beck T, Atlan D, Swertz M, Veal C, Dalgleish R, Brookes AJ. (2015) Cafe Variome: general-purpose software designed to make genotype-phenotype data easily and appropriately discoverable in restricted or open access contexts. Human Mutation; doi:10.1002/humu.22841
Zhao S, Li G, Dalgleish R, Vujovic S, Jiao X, Li J, Simpson JL, Qin Y, Ivanisevic M, Ivovic M, Tancic M, Al-Azzawi F, Chen Z-J. (2015) Transcription factor SOHLH1 potentially associated with premature ovarian failure. Fertility and Sterility, 103: 548-553; doi: 10.1016/j.fertnstert.2014.11.011.
Qin Y, Jiao X, Dalgleish R, Vujovic S, Li J, Simpson JL, Al-Azzawi F, Chen Z-J. (2014) Novel variants in the SOHLH2 gene are implicated in human premature ovarian failure. Fertility and Sterility, 101: 1104-1109; doi: 10.1016/j.fertnstert.2014.01.001.
MacArthur JAL, Morales J, Tully RE, Astashyn A, Gil L, Bruford EA, Larsson P, Flicek P, Dalgleish R, Maglott DR, Cunningham F (2014) Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants. Nucleic Acids Research, 42: D873-D878; doi: 10.1093/nar/gkt1198.
Gaspar P, Lopes P, Oliveira J, Santos R, Dalgleish R, Oliveira JL (2014) Variobox: automatic detection and annotation of human gene variants. Human Mutation, 35: 202-207; doi: 10.1002/humu.22474.
Qin Y, Vujovic S, Ding L, Li G, Li J, Dalgleish R, Simpson JL, Ivanisevic M, Ivovic M, Tancic M, Al-Azzawi F, Chen Z-J (2014) Ethnic specificity of variants of the ESR1, HK3, BRSK1 genes and the 8q22.3 locus: No association with premature ovarian failure (POF) in Serbian women. Maturitas, 77: 64-67; doi: 10.1016/j.maturitas.2013.09.006.
Li J, Vujovic S, Dalgleish R, Thomson J, Dragojevic-Dikic S, Al-Azzawi F (2013) Lack of association between ESR1 gene polymorphisms and premature ovarian failure in Serbian women. Climacteric, Epub ahead of print, doi:10.3109/13697137.2013.819330.
Mabile L, Dalgleish R, Thorisson GA, Deschênes M, Hewitt R, Carpenter J, Bravo E, Filocamo M, Gourraud PA, Harris JR, Hofman P, Kauffmann F, Mu?oz-Fernàndez MA, Pasterk M, Cambon-Thomsen A (2013) Quantifying the use of bioresources for promoting their sharing in scientific research. Gigascience, 2: 7
van Dijk FS, Dalgleish R, Malfait F, Maugeri A, Rusinska A, Semler O, Symoens S, Pals G (2013) Clinical utility gene card for: osteogenesis imperfecta. European Journal of Human Genetics, 21: Epub doi: 10.1038/ejhg.2012.210
Byrne M, Fokkema IFAC, Lancaster O, Adamusiak T, Ahonen-Bishopp A, Atlan D, Béroud C, Cornell M, Dalgleish R, Devereau A, Patrinos GP, Swertz MA, Taschner PEM, Thorisson GA, Vihinen M, Brookes AJ, Muilu J (2012) VarioML framework for comprehensive variation data representation and exchange. BMC Bioinformatics, 13: 254
Dalgleish R, Molero E, Kidd R, Jansen M, Past D, Robl A, Mons B, Diaz C, Mons A, Brookes AJ (2012) Solving bottlenecks in data sharing in the life sciences. Human Mutation, 33: 1494-1496; doi: 10.1002/humu.22123.
Dalgleish R, Shanks ME, Monger K, Butler NJ (2012) A mini-library of sequenced human DNA fragments: linking bench experiments with informatics. Journal of Biological Education, 46: 193-198
Vihinen M, den Dunnen JT, Dalgleish R, Cotton RGH (2012) Guidelines for establishing locus specific databases. Human Mutation, 33: 298-305
Celli J, Dalgleish R, Vihinen M, Taschner PEM, den Dunnen JT (2012) Curating gene variant databases (LSDBs): towards a universal standard. Human Mutation, 33: 291-297
van Dijk FS, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, Symoens S, Sistermans EA, Pals G (2012) EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. European Journal of Human Genetics, 20: 11-19
Dalgleish R, Oetting WS, Auerbach AD, Beckmann JS, Cambon-Thomsen A, Devereau A, Greenblatt MS, Patrinos GP, Taylor GR, Vihinen M, Brookes AJ (2011) Clarity and claims in variation/mutation databasing. Nature Biotechnology, 29: 790-792
Dalgleish R (2011) Boning up on mutations: assessing the significance of candidate disease-causing DNA sequence variation. Genetics and Molecular Research 10: 1518-1521
Lopes P, Dalgleish R, Oliveira JL (2011) WAVe: web analysis of the variome. Human Mutation 32: 729-734
Dalgleish R (2011) Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene. Knee Surgery, Sports Traumatology, Arthroscopy 19: 1403
Cambon-Thomsen A, Thorisson GA, Mabile L, Andrieu S, Bertier G, Boeckhout M, Carpenter J, Dagher G, Dalgleish R, Deschênes M, di Donato JH, Filocamo M, Goldberg M, Hewitt R, Hofman P, Kauffmann F, Leitsalu L, Lomba I, Melegh B, Metspalu A, Miranda L, Napolitani F, Oestergaard MZ, Parodi B, Pasterk M, Reiche A, Rial-Sebbag E, Rivalle G, Rochaix P, Susbielle G, Tarasova L, Thomsen M, Zawati MH, Zins M (2011) The role of a Bioresource Research Impact Factor as an incentive to share human bioresources. Nature Genetics 43: 503-504
Povey S, Al Aqeel AI, Cambon-Thomsen A, Dalgleish R, den Dunnen JT, Firth HV, Greenblatt MS, Barash CI, Parker M, Patrinos GP, Savige J, Sobrido M-J, Winship I, Cotton RGH (2010) Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Human Mutation 31: 1179-1184
Dalgleish R, Flicek P, Cunningham F, Astashyn A, Tully RE, Proctor G, Chen Y, McLaren WM, Larsson P, Vaughan BW, Béroud C, Dobson G, Lehv?slaiho H, Taschner PEM, den Dunnen JT, Devereau A, Birney E, Brookes AJ, Maglott DR (2010) Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Medicine 2: 24