Jenny Lord
Affiliations: | Wellcome Sanger Institute |
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| Blakes AJM, Wai HA, Davies I, et al. (2022) A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project. Genome Medicine. 14: 79 |
| Ellingford JM, Ahn JW, Bagnall RD, et al. (2022) Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome Medicine. 14: 73 |
| Martin-Almedina S, Ogmen K, Sackey E, et al. (2021) 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 |
| Nazlamova L, Thomas NS, Cheung MK, et al. (2020) A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies. Human Genetics |
| Mone F, Eberhardt RY, Morris RK, et al. (2020) 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 |
| Kunkle BW, Grenier-Boley B, Sims R, et al. (2019) Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nature Genetics |
| Kunkle BW, Grenier-Boley B, Sims R, et al. (2019) 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 |
| Lord J, McMullan DJ, Eberhardt RY, et al. (2019) Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet (London, England) |
| Sassi C, Nalls MA, Ridge PG, et al. (2018) Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3. Neurobiology of Aging |
| Wright CF, McRae JF, Clayton S, et al. (2018) 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 |