| Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing BW Kunkle, B Grenier-Boley, R Sims, JC Bis, V Damotte, AC Naj, ... Nature genetics 51 (3), 414-430, 2019 | 2166 | 2019 |
| Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease R Sims, SJ Van Der Lee, AC Naj, C Bellenguez, N Badarinarayan, ... Nature genetics 49 (9), 1373-1384, 2017 | 898 | 2017 |
| Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease C Cruchaga, CM Karch, SC Jin, BA Benitez, Y Cai, R Guerreiro, O Harari, ... Nature 505 (7484), 550-554, 2014 | 522 | 2014 |
| Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study J Lord, DJ McMullan, RY Eberhardt, G Rinck, SJ Hamilton, ... The Lancet 393 (10173), 747-757, 2019 | 489 | 2019 |
| Evidence for 28 genetic disorders discovered by combining healthcare and research data J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ... Nature 586 (7831), 757-762, 2020 | 376 | 2020 |
| Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders CF Wright, JF McRae, S Clayton, G Gallone, S Aitken, TW FitzGerald, ... Genetics in Medicine 20 (10), 1216-1223, 2018 | 314 | 2018 |
| A novel Alzheimer disease locus located near the gene encoding tau protein G Jun, CA Ibrahim-Verbaas, M Vronskaya, JC Lambert, J Chung, AC Naj, ... Molecular psychiatry 21 (1), 108-117, 2016 | 286 | 2016 |
| Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families N Akawi, J McRae, M Ansari, M Balasubramanian, M Blyth, AF Brady, ... Nature genetics 47 (11), 1363-1369, 2015 | 164 | 2015 |
| Missense variant in TREML2 protects against Alzheimer's disease BA Benitez, SC Jin, R Guerreiro, R Graham, J Lord, D Harold, R Sims, ... Neurobiology of aging 35 (6), 1510. e19-1510. e26, 2014 | 143 | 2014 |
| Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance HA Wai, J Lord, M Lyon, A Gunning, H Kelly, P Cibin, EG Seaby, ... Genetics in Medicine 22 (6), 1005-1014, 2020 | 131 | 2020 |
| The epigenetic landscape of Alzheimer's disease J Lord, C Cruchaga Nature neuroscience 17 (9), 1138-1140, 2014 | 127 | 2014 |
| Prenatal Assessment of Genomes and Exomes Consortium. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study J Lord, DJ McMullan, RY Eberhardt, G Rinck, SJ Hamilton, ... Lancet 393 (10173), 747-757, 2019 | 88 | 2019 |
| Recommendations for clinical interpretation of variants found in non-coding regions of the genome JM Ellingford, JW Ahn, RD Bagnall, D Baralle, S Barton, C Campbell, ... Genome medicine 14 (1), 73, 2022 | 77 | 2022 |
| Pathogenicity and selective constraint on variation near splice sites J Lord, G Gallone, PJ Short, JF McRae, H Ironfield, EH Wynn, SS Gerety, ... Genome research 29 (2), 159-170, 2019 | 77 | 2019 |
| Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease C Sassi, R Guerreiro, R Gibbs, J Ding, MK Lupton, C Troakes, S Al-Sarraj, ... Neurobiology of aging 35 (12), 2881. e1-2881. e6, 2014 | 75 | 2014 |
| A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin Y Deming, J Xia, Y Cai, J Lord, P Holmans, S Bertelsen, D Holtzman, ... Neurobiology of aging 37, 208. e1-208. e9, 2016 | 61 | 2016 |
| COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review F Mone, RY Eberhardt, RK Morris, ME Hurles, DJ McMullan, ER Maher, ... Ultrasound in Obstetrics & Gynecology 57 (1), 43-51, 2021 | 59 | 2021 |
| Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies E Quinlan-Jones, J Lord, D Williams, S Hamilton, T Marton, RY Eberhardt, ... Genetics in Medicine 21 (5), 1065-1073, 2019 | 59 | 2019 |
| Splicing in the diagnosis of rare disease: advances and challenges J Lord, D Baralle Frontiers in genetics 12, 689892, 2021 | 55 | 2021 |
| Exome sequencing identifies 2 novel presenilin 1 mutations (p. L166V and p. S230R) in British early-onset Alzheimer's disease C Sassi, R Guerreiro, R Gibbs, J Ding, MK Lupton, C Troakes, K Lunnon, ... Neurobiology of aging 35 (10), 2422. e13-2422. e16, 2014 | 49 | 2014 |
