Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
7 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease.
Hum Mutat. 2022 Aug;43(8):1071-1081. doi: 10.1002/humu.24380. Epub 2022 Apr 27.
Hum Mutat. 2022.
PMID: 35391505
Free PMC article.
Review.
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
Yngvadottir B, Andreou A, Bassaganyas L, Larionov A, Cornish AJ, Chubb D, Saunders CN, Smith PS, Zhang H, Cole Y, Research Consortium GE, Larkin J, Browning L, Turajlic S, Litchfield K, Houlston RS, Maher ER.
Yngvadottir B, et al. Among authors: research consortium ge.
Hum Mol Genet. 2022 Aug 25;31(17):3001-3011. doi: 10.1093/hmg/ddac089.
Hum Mol Genet. 2022.
PMID: 35441217
Free PMC article.
Item in Clipboard
Risk-conferring HLA variants in an epilepsy cohort: benefits of multifaceted use of whole genome sequencing in clinical practice.
Vakrinou A, Bellampalli R, Gulcebi MI, Martins Custodio H, Research Consortium GE, Balestrini S, Sisodiya SM.
Vakrinou A, et al. Among authors: research consortium ge.
J Neurol Neurosurg Psychiatry. 2023 Nov;94(11):887-892. doi: 10.1136/jnnp-2023-331419. Epub 2023 Jun 26.
J Neurol Neurosurg Psychiatry. 2023.
PMID: 37364985
Item in Clipboard
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
Hay E, Henderson RH, Mansour S, Deshpande C, Jones R, Nutan S, Mankad K, Young RM, Moosajee M, Research Consortium GE, Arno G.
Hay E, et al. Among authors: research consortium ge.
Clin Genet. 2020 Aug;98(2):191-197. doi: 10.1111/cge.13795.
Clin Genet. 2020.
PMID: 32530092
Item in Clipboard
SARS-CoV-2 Susceptibility and ACE2 Gene Variations Within Diverse Ethnic Backgrounds.
Vadgama N, Kreymerman A, Campbell J, Shamardina O, Brugger C, Research Consortium GE, Deaconescu AM, Lee RT, Penkett CJ, Gifford CA, Mercola M, Nasir J, Karakikes I.
Vadgama N, et al. Among authors: research consortium ge.
Front Genet. 2022 Apr 27;13:888025. doi: 10.3389/fgene.2022.888025. eCollection 2022.
Front Genet. 2022.
PMID: 35571054
Free PMC article.
Item in Clipboard
Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project.
Shovlin CL, Almaghlouth FI, Alsafi A, Coote N, Rennie C, Wallace GM, Govani FS, Research Consortium GE.
Shovlin CL, et al. Among authors: research consortium ge.
J Med Genet. 2024 Jan 19;61(2):182-185. doi: 10.1136/jmg-2023-109195.
J Med Genet. 2024.
PMID: 37586837
Free PMC article.
No abstract available.
Item in Clipboard
VAMP2 Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders.
Bogue D, Ryan G, Wassmer E, Research Consortium GE, Naik S.
Bogue D, et al. Among authors: research consortium ge.
Mol Syndromol. 2023 Oct;14(5):449-456. doi: 10.1159/000530150. Epub 2023 Jun 1.
Mol Syndromol. 2023.
PMID: 37901860
Free PMC article.
Item in Clipboard
Cite
Cite