Jenny Lord
Jenny Lord
Lecturer in Systems Biology, University of Sheffield
Verified email at
Cited by
Cited by
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
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
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
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
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
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
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
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
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
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
The epigenetic landscape of Alzheimer's disease
J Lord, C Cruchaga
Nature neuroscience 17 (9), 1138-1140, 2014
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
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
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
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
Splicing in the diagnosis of rare disease: advances and challenges
J Lord, D Baralle
Frontiers in genetics 12, 689892, 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
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
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
Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3
C Sassi, MA Nalls, PG Ridge, JR Gibbs, MK Lupton, C Troakes, K Lunnon, ...
Neurobiology of Aging 66, 179. e17-179. e29, 2018
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