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Authors whose works are in public domain in at least one jurisdiction

List of works by Jenny Lord

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Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

scientific article
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 28 February 2019
Missense variant in TREML2 protects against Alzheimer's disease

scientific article published on 21 December 2013
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

scientific article published on 5 October 2015
The epigenetic landscape of Alzheimer's disease.

scientific article
Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease

scientific article
Identification of rare variants in Alzheimer's disease

scientific article
ABCA7 p.G215S as potential protective factor for Alzheimer's disease

scientific article published on 20 April 2016
Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease

scientific article
A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin

scientific article published on 25 September 2015
Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease

scientific article
Pathogenicity and selective constraint on variation near splice sites

scientific article published on 26 December 2018
Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.

scientific article published on 2 February 2018
Evidence for 28 genetic disorders discovered by combining healthcare and research data

scientific article published on 14 October 2020
Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies

scientific article published on 08 October 2018
Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits.

scientific article
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

scientific article published on 18 October 2021
Next generation sequencing of CLU, PICALM and CR1: pitfalls and potential solutions.

scientific article

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