| 1 |
Grether A, Ivanovski I, Russo M, Begemann A, Steindl K, Abela L, Papik M, Zweier M, Oneda B, Joset P, Rauch A. The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies. Mol Genet Genomic Med 2023;:e2148. [PMID: 36785910 DOI: 10.1002/mgg3.2148] [Reference Citation Analysis]
|
| 2 |
Jansen S, Vissers LELM, de Vries BBA. The Genetics of Intellectual Disability. Brain Sci 2023;13. [PMID: 36831774 DOI: 10.3390/brainsci13020231] [Reference Citation Analysis]
|
| 3 |
Filatova A, Reveguk I, Piatkova M, Bessonova D, Kuziakova O, Demakova V, Romanishin A, Fishman V, Imanmalik Y, Chekanov N, Skitchenko R, Barbitoff Y, Kardymon O, Skoblov M. Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs. Nucleic Acids Res 2023;51:1229-44. [PMID: 36651276 DOI: 10.1093/nar/gkac1247] [Reference Citation Analysis]
|
| 4 |
Shu L, Maroilley T, Tarailo-Graovac M. The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases. Genes (Basel) 2023;14. [PMID: 36672937 DOI: 10.3390/genes14010196] [Reference Citation Analysis]
|
| 5 |
van der Sanden BPGH, Schobers G, Corominas Galbany J, Koolen DA, Sinnema M, van Reeuwijk J, Stumpel CTRM, Kleefstra T, de Vries BBA, Ruiterkamp-Versteeg M, Leijsten N, Kwint M, Derks R, Swinkels H, den Ouden A, Pfundt R, Rinne T, de Leeuw N, Stegmann AP, Stevens SJ, van den Wijngaard A, Brunner HG, Yntema HG, Gilissen C, Nelen MR, Vissers LELM. The performance of genome sequencing as a first-tier test for neurodevelopmental disorders. Eur J Hum Genet 2023;31:81-8. [PMID: 36114283 DOI: 10.1038/s41431-022-01185-9] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
|
| 6 |
Findlay SD, Romo L, Burge CB. Quantifying negative selection in human 3’ UTRs uncovers constrained targets of RNA-binding proteins.. [DOI: 10.1101/2022.11.30.518628] [Reference Citation Analysis]
|
| 7 |
Coursimault J, Cassinari K, Lecoquierre F, Quenez O, Coutant S, Derambure C, Vezain M, Drouot N, Vera G, Schaefer E, Philippe A, Doray B, Lambert L, Ghoumid J, Smol T, Rama M, Legendre M, Lacombe D, Fergelot P, Olaso R, Boland A, Deleuze JF, Goldenberg A, Saugier-Veber P, Nicolas G. Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients. Hum Mutat 2022;43:1882-97. [PMID: 35842780 DOI: 10.1002/humu.24438] [Reference Citation Analysis]
|
| 8 |
Tabet D, Parikh V, Mali P, Roth FP, Claussnitzer M. Scalable Functional Assays for the Interpretation of Human Genetic Variation. Annu Rev Genet 2022;56:441-65. [PMID: 36055970 DOI: 10.1146/annurev-genet-072920-032107] [Reference Citation Analysis]
|
| 9 |
Qiang Ma, Yingzhong Yang, Yongnian Liu. Associations between NKX2-5 gene polymorphisms and congenital heart disease in the Chinese Tibetan population. Am J Transl Res 2022;14. [PMID: 36505279] [Reference Citation Analysis]
|
| 10 |
Pilz RA, Skowronek D, Hamed M, Weise A, Mangold E, Radbruch A, Pietsch T, Felbor U, Rath M. Using CRISPR/Cas9 genome editing in human iPSCs for deciphering the pathogenicity of a novel CCM1 transcription start site deletion. Front Mol Biosci 2022;9:953048. [DOI: 10.3389/fmolb.2022.953048] [Reference Citation Analysis]
|
| 11 |
Fanelli A, Marconato L, Licenziato L, Minoli L, Rouquet N, Aresu L. POT1 mutations are frequent and associated with Ki-67 index in canine diffuse large B-cell lymphoma. Front Vet Sci 2022;9:968807. [DOI: 10.3389/fvets.2022.968807] [Reference Citation Analysis]
|
| 12 |
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, Fitzpatrick DR, Hurles ME, Firth HV. Optimising diagnostic yield in highly penetrant genomic disease.. [DOI: 10.1101/2022.07.25.22278008] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
|
| 13 |
Ellingford JM, Ahn JW, Bagnall RD, Baralle D, Barton S, Campbell C, Downes K, Ellard S, Duff-Farrier C, FitzPatrick DR, Greally JM, Ingles J, Krishnan N, Lord J, Martin HC, Newman WG, O'Donnell-Luria A, Ramsden SC, Rehm HL, Richardson E, Singer-Berk M, Taylor JC, Williams M, Wood JC, Wright CF, Harrison SM, Whiffin N. Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome Med 2022;14:73. [PMID: 35850704 DOI: 10.1186/s13073-022-01073-3] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 12.0] [Reference Citation Analysis]
|
| 14 |
Ferla MP, Pagnamenta AT, Koukouflis L, Taylor JC, Marsden BD. Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure Destabilisation. J Mol Biol 2022;434:167567. [PMID: 35662467 DOI: 10.1016/j.jmb.2022.167567] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
|
| 15 |
Hertzberg J, Mundlos S, Vingron M, Gallone G. TADA-a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs. Genome Biol 2022;23:67. [PMID: 35232478 DOI: 10.1186/s13059-022-02631-z] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
|
| 16 |
Petrazzini BO, López-bello F, Naya H, Spangenberg L. Clinical prediction of pathogenic variants in non-coding regions of the human genome.. [DOI: 10.1101/2022.02.25.22271514] [Reference Citation Analysis]
|
| 17 |
Maroilley T, Wright NAM, Diao C, Maclaren L, Pfeffer G, Sarna JR, Billie Au PY, Tarailo-graovac M. Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Telangiectasia. Front Genet 2022;13:815210. [DOI: 10.3389/fgene.2022.815210] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
|
| 18 |
Kingdom R, Wright CF. Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts. Front Genet 2022;13:920390. [PMID: 35983412 DOI: 10.3389/fgene.2022.920390] [Cited by in Crossref: 8] [Cited by in F6Publishing: 2] [Article Influence: 8.0] [Reference Citation Analysis]
|
| 19 |
Sherman MA, Yaari AU, Priebe O, Dietlein F, Loh PR, Berger B. Genome-wide mapping of somatic mutation rates uncovers drivers of cancer. Nat Biotechnol 2022;40:1634-43. [PMID: 35726091 DOI: 10.1038/s41587-022-01353-8] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 8.0] [Reference Citation Analysis]
|
| 20 |
Ellingford JM, Ahn JW, Bagnall RD, Baralle D, Barton S, Campbell C, Downes K, Ellard S, Duff-farrier C, Fitzpatrick DR, Ingles J, Krishnan N, Lord J, Martin HC, Newman WG, O’donnell-luria A, Ramsden SC, Rehm HL, Richardson E, Singer-berk M, Taylor JC, Williams M, Wood JC, Wright CF, Harrison SM, Whiffin N. Recommendations for clinical interpretation of variants found in non-coding regions of the genome.. [DOI: 10.1101/2021.12.28.21267792] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
|
| 21 |
Calame DG, Fatih JM, Herman I, Coban-Akdemir Z, Du H, Mitani T, Jhangiani SN, Marafi D, Gibbs RA, Posey JE, Mehta VP, Mohila CA, Abid F, Lotze TE, Pehlivan D, Adesina AM, Lupski JR. Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Ann Clin Transl Neurol 2021;8:2052-8. [PMID: 34524739 DOI: 10.1002/acn3.51454] [Reference Citation Analysis]
|
| 22 |
Dinneen TJ, Ghrálaigh FN, Walsh R, Lopez LM, Gallagher L. How does genetic variation modify ND-CNV phenotypes? Trends Genet 2021:S0168-9525(21)00196-7. [PMID: 34364706 DOI: 10.1016/j.tig.2021.07.006] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
|
