Browse by Journal

Kimonis, V. et al. (2021) NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum. Journal of Medical Genetics, 58(5), pp. 314-325. (doi: 10.1136/jmedgenet-2020-106846) (PMID:32518176)

Andrews, K. A. et al. (2018) Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD. Journal of Medical Genetics, 55(6), pp. 384-394. (doi: 10.1136/jmedgenet-2017-105127) (PMID:29386252) (PMCID:PMC5992372)

Noordam, R. et al. (2017) A genome-wide interaction analysis of tricyclic/tetracyclic antidepressants and RR and QT intervals: a pharmacogenomics study from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. Journal of Medical Genetics, 54(5), pp. 313-323. (doi: 10.1136/jmedgenet-2016-104112) (PMID:28039329)

Postmus, I. et al. (2016) Meta-analysis of genome-wide association studies of HDL cholesterol response to statins. Journal of Medical Genetics, 53(12), pp. 835-845. (doi: 10.1136/jmedgenet-2016-103966) (PMID:27587472)

Southey, M. C. et al. (2016) PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. Journal of Medical Genetics, 53(12), pp. 800-811. (doi: 10.1136/jmedgenet-2016-103839) (PMID:27595995) (PMCID:PMC5200636)

van Leeuwen, E. M. et al. (2016) Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels. Journal of Medical Genetics, 53(7), pp. 441-449. (doi: 10.1136/jmedgenet-2015-103439) (PMID:27036123) (PMCID:PMC4941146)

Oei, L. et al. (2014) A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus. Journal of Medical Genetics, 51(2), pp. 122-131. (doi: 10.1136/jmedgenet-2013-102064)

Brunklaus, Andreas, Ellis, Rachael, Reavey, Eleanor, Semsarian, Christopher and Zuberi, Sameer M. (2014) Genotype phenotype associations across the voltage-gated sodium channel family. Journal of Medical Genetics, 51(10), pp. 650-658. (doi: 10.1136/jmedgenet-2014-102608)

Gordon, C.T. et al. (2013) Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. Journal of Medical Genetics, 50(3), pp. 174-186. (doi: 10.1136/jmedgenet-2012-101331)

McGowan, Ruth, Tydeman, G.T., Shaprio, D.S., Morrison, N.M., Logan, S.L., Balen, A.B., Ahmed, F.A., Deeny, M.D., Tolmie, J.T. and Tobias, E.S.T. ORCID: https://orcid.org/0000-0003-2649-7695 (2012) Broadening the scope of recurrent copy number variation and other congenital anomalies associated with mullerian disorders. Journal of Medical Genetics, 49(S1),

O'Sullivan, James, Mullaney, Brendan G., Bhaskar, Sanjeev S., Dickerson, Jonathan E., Hall, Georgina, O'Grady, Anna, Webster, Andrew, Ramsden, Simon C. and Black, Graeme C. (2012) A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. Journal of Medical Genetics, 49(5), pp. 322-326. (doi: 10.1136/jmedgenet-2012-100847) (PMID:22581970)

Tobias, Edward S. ORCID: https://orcid.org/0000-0003-2649-7695, Yeap, P.M., Mavraki, E., Fletcher, A., Freel, M.E., Bradshaw, N., Murday, V.A., Perry, C. and Lindsay, R.S. (2011) Parent-of-origin effect in SDHD hereditary tumours explained by requirement for additional molecular steps. Journal of Medical Genetics, 48(S1), S102.

Marchington, D., Malik, S., Banerjee, A., Turner, K., Samuels, D., Macaulay, V. ORCID: https://orcid.org/0000-0001-9084-2700, Oakeshott, P., Fratter, C., Kennedy, S. and Poulton, J. (2010) Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta. Journal of Medical Genetics, 47(4), pp. 257-261. (doi: 10.1136/jmg.2009.072900)

Shaikh, M. G. et al. (2008) Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita. Journal of Medical Genetics, 45(9), e1. (doi: 10.1136/jmg.2007.055129) (PMID:18762570) (PMCID:PMC2602739)

Laugel, V, Dalloz, C, Tobias, ES, Tolmie, JL, Martin-Coignard, D, Drouin-Garraud, V, Valayannopoulos, V, Sarasin, A and Dollfus, H (2008) Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. Journal of Medical Genetics, 45(9), pp. 564-571. (doi: 10.1136/jmg.2007.057141)

Archer, H. et al. (2007) Correlation between clinical severity in patients with Rett Syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. Journal of Medical Genetics, 44, pp. 148-152. (doi: 10.1136/jmg.2006.045260)

Marcano, A. C. B. et al. (2007) Genetic association analysis of inositol polyphosphate phosphatase-like 1 (INPPL1, SHIP2) variants with essential hypertension. Journal of Medical Genetics, 44(9), pp. 603-605. (doi: 10.1136/jmg.2007.049718)

Penderis, J, Calvin, J, Abramson, C, Jakobs, C, Pettitt, L, Binns, MM, Verhoeven, NM, ODriscoll, E, Platt, SR and Mellersh, CS (2007) L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. Journal of Medical Genetics, 44, pp. 334-340. (doi: 10.1136/jmg.2006.042507)

Archer, H. et al. (2006) Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett Syndrome. Journal of Medical Genetics, 43(5), pp. 451-456. (doi: 10.1136/jmg.2005.033464) (PMID:16183801) (PMCID:PMC2564520)

Johnson, D, Morrison, N, Grant, L, Turner, T, Fantes, J, Connor, JM and Murday, V (2006) Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins. Journal of Medical Genetics, 43(3), pp. 280-284.

Goldstein, A. M. et al. (2006) Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. Journal of Medical Genetics, 44(2), pp. 99-106. (doi: 10.1136/jmg.2006.043802)

Bolund, L. et al. (2006) Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH. Journal of Medical Genetics, 43(1), pp. 28-38.

Gaukrodger, N, Mayosi, BM, Imrie, H, Avery, P, Baker, M, Connell, JMC, Watkins, H, Farrall, M and Keavney, B (2005) A rare variant of the leptin gene has large effects on blood pressure and carotid intima-medial thickness: a study of 1428 individuals in 248 families. Journal of Medical Genetics, 42, pp. 474-478. (doi: 10.1136/jmg.2004.027631)

Barker, JN, Bowcock, AM, Burden, AD, Capon, F, Helms, C, Tillman, D, Trembath, RC and Veal, CD (2004) Genetic analysis of PSORS2 markers in a UK dataset supports the association between RAPTOR SNPs and familial psoriasis. Journal of Medical Genetics, 41, pp. 459-460. (doi: 10.1136/jmg.2004.018226)

Breuning, M, Catsman-Berrevoets, CE, Endris, V, Muncke, N, Rappold, G, Ross, M, Sistermans, EA, Vetrie, D ORCID: https://orcid.org/0000-0003-2075-4662 and Wogatzky, BS (2004) Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms. Journal of Medical Genetics, 41(12),

Allen, MH, Barker, JNWN, Burden, D, Capon, F, Evans, JC, Patel, S, Tillman, D, Toal, IK and Trembath, RC (2003) Haplotype analysis of distantly related populations implicates corneodesmosin in psoriasis susceptibility. Journal of Medical Genetics, 40, pp. 447-452.

Brewer, CM, Holloway, SH, Stone, DH, Carothers, AD and FitzPatrick, DR (2002) Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers. Journal of Medical Genetics, 39(9), e54. (doi: 10.1136/jmg.39.9.e54)

Barton, J, Bryce, G, Colgan, J, Cooke, A, Farmer, G, Morrison, N, Tobias, ES and Tolmie, JL (2001) Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus. Journal of Medical Genetics, 38(7), pp. 466-469.

Ameen, M. et al. (2001) Identification of a novel psoriasis susceptibility locus at 1p and evidence of epistasis between PSORS1 and candidate loci. Journal of Medical Genetics, 38, pp. 7-13.

Balhorn, R., Corzett, M., Dolan, C., Brewer, L.R., Lee, J. and Allen, M.J. (2001) Packing and unpacking of DNA in sperm. Journal of Medical Genetics, 38(S1), S16.

Aligianis, I, Connell, J, Douglas, F, Evans, DGR, George, E, Hodgson, SV, Morrison, P and Maher, ER (2000) Clinical features of non-syndromic familial phaeochromocytoma. Journal of Medical Genetics, 37, S43-S43.

Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E.S. ORCID: https://orcid.org/0000-0002-9788-2278, Zhang, Zhiping and Anvret, Marie (2000) Mutation screening in Rett syndrome patients. Journal of Medical Genetics, 37(4), pp. 250-255. (doi: 10.1136/jmg.37.4.250) (PMID:10745042) (PMCID:PMC1734556)

Plant, Kate E., Boye, Eileen, Green, Peter M., Vetrie, David ORCID: https://orcid.org/0000-0003-2075-4662 and Flinter, Frances A. (2000) Somatic mosaicism associated with a mild Alport syndrome phenotype. Journal of Medical Genetics, 37(3), pp. 238-239. (doi: 10.1136/jmg.37.3.238) (PMID:10777371) (PMCID:PMC1734534)

Mossey, Peter A., Arngrimsson, Reynir, McColl, John ORCID: https://orcid.org/0000-0002-6008-2349, Vintiner, Gill M. and Connor, J. Michael (1998) Prediction of liability to orofacial clefting using genetic and craniofacial data from parents. Journal of Medical Genetics, 35(5), pp. 371-378. (doi: 10.1136/jmg.35.5.371) (PMID:9610799) (PMCID:PMC1051310)

Vetrie, David ORCID: https://orcid.org/0000-0003-2075-4662 (1993) Isolation of the defective gene in X linked agammaglobulinaemia. Journal of Medical Genetics, 30(6), pp. 452-453. (PMID:8326486) (PMCID:PMC1016414)

Harris, Ann, Collins, Jane, Vetrie, David ORCID: https://orcid.org/0000-0003-2075-4662, Cole, Charlotte and Bobrow, Martin (1992) X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease. Journal of Medical Genetics, 29(9), pp. 608-614. (PMID:1404291) (PMCID:PMC1016090)

Vetrie, David ORCID: https://orcid.org/0000-0003-2075-4662, Flinter, Frances, Bobrow, Martin and Harris, Ann (1992) X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene? Journal of Medical Genetics, 29(9), pp. 663-666. (PMID:1404298) (PMCID:PMC1016101)

Gordon, M.T., Conway, D.I. ORCID: https://orcid.org/0000-0001-7762-4063, Anderson, D.C. and Harris, R. (1985) Genetics and biochemical variability of variants of 21 hydroxylase deficiency. Journal of Medical Genetics, 22(5), pp. 354-360. (doi: 10.1136/jmg.22.5.354) (PMID:3001309) (PMCID:PMC1049478)