| Year |
Citation |
Score |
| 2024 |
Hartill V, Kabir M, Best S, Shaikh Qureshi WM, Baross SL, Lord J, Yu J, Sasaki E, Needham H, Shears D, Roche M, Wall E, Cooper N, Ryan G, Eason J, et al. Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project. European Journal of Human Genetics : Ejhg. PMID 39587356 DOI: 10.1038/s41431-024-01744-2 |
0.323 |
|
| 2024 |
Pagnamenta AT, Yu J, Walker S, Noble AJ, Lord J, Dutta P, Hashim M, Camps C, Green H, Devaiah S, Nashef L, Parr J, Fratter C, Ibnouf Hussein R, Lindsay SJ, et al. The impact of inversions across 33,924 families with rare disease from a national genome sequencing project. American Journal of Human Genetics. PMID 38776926 DOI: 10.1016/j.ajhg.2024.04.018 |
0.368 |
|
| 2022 |
Blakes AJM, Wai HA, Davies I, Moledina HE, Ruiz A, Thomas T, Bunyan D, Thomas NS, Burren CP, Greenhalgh L, Lees M, Pichini A, Smithson SF, Taylor Tavares AL, O'Donovan P, ... ... Lord J, et al. A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project. Genome Medicine. 14: 79. PMID 35883178 DOI: 10.1186/s13073-022-01087-x |
0.339 |
|
| 2022 |
Ellingford JM, Ahn JW, Bagnall RD, Baralle D, Barton S, Campbell C, Downes K, Ellard S, Duff-Farrier C, FitzPatrick DR, Greally JM, Ingles J, Krishnan N, Lord J, Martin HC, et al. Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome Medicine. 14: 73. PMID 35850704 DOI: 10.1186/s13073-022-01073-3 |
0.32 |
|
| 2021 |
Martin-Almedina S, Ogmen K, Sackey E, Grigoriadis D, Karapouliou C, Nadarajah N, Ebbing C, Lord J, Mellis R, Kortuem F, Dinulos MB, Polun C, Bale S, Atton G, Robinson A, et al. Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33864021 DOI: 10.1038/s41436-021-01136-7 |
0.314 |
|
| 2020 |
Nazlamova L, Thomas NS, Cheung MK, Legebeke J, Lord J, Pengelly RJ, Tapper WJ, Wheway G. A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies. Human Genetics. PMID 33095315 DOI: 10.1007/s00439-020-02228-1 |
0.342 |
|
| 2020 |
Mone F, Eberhardt RY, Morris RK, Hurles ME, Mcmullan DJ, Maher ER, Lord J, Chitty LS, Giordano JL, Wapner RJ, Kilby MD. COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE Study): prospective cohort study and systematic review. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. PMID 32388881 DOI: 10.1002/Uog.22072 |
0.35 |
|
| 2019 |
Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, ... ... Lord J, et al. Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nature Genetics. PMID 31417202 DOI: 10.1038/s41588-019-0495-7 |
0.715 |
|
| 2019 |
Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, ... ... Lord J, et al. Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nature Genetics. 51: 414-430. PMID 30820047 DOI: 10.1038/s41588-019-0358-2 |
0.758 |
|
| 2019 |
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet (London, England). PMID 30712880 DOI: 10.1097/01.Ogx.0000569244.48139.92 |
0.368 |
|
| 2018 |
Sassi C, Nalls MA, Ridge PG, Gibbs JR, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J, Bras J, Blumenau S, et al. Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3. Neurobiology of Aging. PMID 29544907 DOI: 10.1016/j.neurobiolaging.2018.01.015 |
0.675 |
|
| 2018 |
Wright CF, McRae JF, Clayton S, Gallone G, Aitken S, FitzGerald TW, Jones P, Prigmore E, Rajan D, Lord J, Sifrim A, Kelsell R, Parker MJ, Barrett JC, Hurles ME, et al. Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29323667 DOI: 10.1038/Gim.2017.246 |
0.41 |
|
| 2017 |
Rehker J, Rodhe J, Nesbitt RR, Boyle EA, Martin BK, Lord J, Karaca I, Naj A, Jessen F, Helisalmi S, Soininen H, Hiltunen M, Ramirez A, Scherer M, Farrer LA, et al. Caspase-8, association with Alzheimer's Disease and functional analysis of rare variants. Plos One. 12: e0185777. PMID 28985224 DOI: 10.1371/Journal.Pone.0185777 |
0.677 |
|
| 2017 |
Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, ... ... Lord J, et al. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nature Genetics. PMID 28714976 DOI: 10.1038/Ng.3916 |
0.761 |
|
| 2016 |
Deming Y, Xia J, Cai Y, Lord J, Del-Aguila JL, Fernandez MV, Carrell D, Black K, Budde J, Ma S, Saef B, Howells B, Bertelsen S, Bailey M, Ridge PG, et al. Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits. Scientific Reports. 6: 18092. PMID 36647296 DOI: 10.1038/srep18092 |
0.749 |
|
| 2016 |
Sassi C, Nalls MA, Ridge PG, Gibbs JR, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Clement N, Lord J, Turton J, Bras J, et al. ABCA7 p.G215S as potential protective factor for Alzheimer's disease. Neurobiology of Aging. PMID 27289440 DOI: 10.1016/J.Neurobiolaging.2016.04.004 |
0.746 |
|
| 2016 |
Sassi C, Ridge PG, Nalls MA, Gibbs R, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J, Morgan K, et al. Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease. Plos One. 11: e0150079. PMID 27249223 DOI: 10.1371/Journal.Pone.0150079 |
0.711 |
|
| 2016 |
Clement N, Braae A, Turton J, Lord J, Guetta Baranes T. Investigating Splicing Variants Uncovered by Next-Generation Sequencing the Alzheimer’s Disease Candidate Genes, CLU, PICALM, CR1, ABCA7, BIN1, the MS4A Locus, CD2AP, EPHA1 and CD33 Journal of Alzheimer’S Disease & Parkinsonism. 6. DOI: 10.4172/2161-0460.1000276 |
0.545 |
|
| 2016 |
Deming Y, Xia J, Cai Y, Lord J, Del-Aguila JL, Fernandez MV, Carrell D, Black K, Budde J, Ma S, Saef B, Howells B, Bertelsen S, Bailey M, Ridge PG, et al. Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits Scientific Reports. 6. DOI: 10.1038/Srep18092 |
0.75 |
|
| 2015 |
Deming Y, Xia J, Cai Y, Lord J, Holmans P, Bertelsen S, Holtzman D, Morris JC, Bales K, Pickering EH, Kauwe J, Goate A, Cruchaga C. A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin. Neurobiology of Aging. PMID 26545630 DOI: 10.1016/J.Jalz.2015.07.374 |
0.774 |
|
| 2015 |
Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, Foulds N, Francis R, Gabriel G, Gerety SS, Goodship J, ... ... Lord J, et al. Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nature Genetics. PMID 26437029 DOI: 10.1038/Ng.3410 |
0.397 |
|
| 2015 |
Kobolt D, Lord J, Fernandez V, del-Aguila J, Kang CJ, Saef B, Wilson R, Goate A, Cruchaga C. P1-055: Exome-sequencing in a large dataset of late-onset families with Alzheimer's disease Alzheimer's & Dementia. 11: P359-P359. DOI: 10.1016/J.Jalz.2015.06.252 |
0.657 |
|
| 2014 |
Lord J, Lu AJ, Cruchaga C. Identification of rare variants in Alzheimer's disease. Frontiers in Genetics. 5: 369. PMID 25389433 DOI: 10.3389/Fgene.2014.00369 |
0.724 |
|
| 2014 |
Lord J, Cruchaga C. The epigenetic landscape of Alzheimer's disease. Nature Neuroscience. 17: 1138-40. PMID 25157507 DOI: 10.1038/Nn.3792 |
0.613 |
|
| 2014 |
Sassi C, Guerreiro R, Gibbs R, Ding J, Lupton MK, Troakes C, Al-Sarraj S, Niblock M, Gallo JM, Adnan J, Killick R, Brown KS, Medway C, Lord J, Turton J, et al. Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiology of Aging. 35: 2881.e1-6. PMID 25104557 DOI: 10.1016/J.Neurobiolaging.2014.06.002 |
0.581 |
|
| 2014 |
Sassi C, Guerreiro R, Gibbs R, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J, Mann D, Snowden J, Neary D, et al. Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. Neurobiology of Aging. 35: 2422.e13-6. PMID 24880964 DOI: 10.1016/J.Neurobiolaging.2014.04.026 |
0.579 |
|
| 2014 |
Benitez BA, Jin SC, Guerreiro R, Graham R, Lord J, Harold D, Sims R, Lambert JC, Gibbs JR, Bras J, Sassi C, Harari O, Bertelsen S, Lupton MK, Powell J, et al. Missense variant in TREML2 protects against Alzheimer's disease. Neurobiology of Aging. 35: 1510.e19-26. PMID 24439484 DOI: 10.1016/J.Neurobiolaging.2013.12.010 |
0.782 |
|
| 2014 |
Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, ... ... Lord J, et al. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature. 505: 550-4. PMID 24336208 DOI: 10.1038/Nature12825 |
0.747 |
|
| 2014 |
Lord J, Turton J, Braae A, Barber I, Medway C, Brown K, Morgan K. P2-030: INVESTIGATING THE ROLE OF CLU, PICALM, AND CR1 IN ALZHEIMER'S DISEASE Alzheimer's & Dementia. 10: P481-P481. DOI: 10.1016/J.Jalz.2014.05.703 |
0.622 |
|
| 2014 |
Barber I, Braae A, Turton J, Lord J, Medway CW, Brown K, Morgan K. P2-029: AN INTRONIC 6 BASE PAIR DELETION IN APP THAT POTENTIALLY AFFECTS EXON 17 SPLICING Alzheimer's & Dementia. 10: P480-P481. DOI: 10.1016/J.Jalz.2014.05.702 |
0.307 |
|
| 2014 |
Braae A, Turton J, Lord J, Medway C, Brown K, Barber I, Morgan K. P1-052: DEEP SEQUENCING ALZHEIMER'S DISEASE ASSOCIATED GENES, CLU, PICALM, CR1, ABCA7, BIN1, MS4A, CD2AP, EPHA1, AND CD33 IDENTIFIES POTENTIAL FUNCTIONAL SNPS Alzheimer's & Dementia. 10: P322-P322. DOI: 10.1016/J.Jalz.2014.05.288 |
0.486 |
|
| 2012 |
Lord J, Turton J, Medway C, Shi H, Brown K, Lowe J, Mann D, Pickering-Brown S, Kalsheker N, Passmore P, Morgan K. Next generation sequencing of CLU, PICALM and CR1: pitfalls and potential solutions. International Journal of Molecular Epidemiology and Genetics. 3: 262-75. PMID 23205178 |
0.505 |
|
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