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| Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ... New England Journal of Medicine 359 (16), 1685-1699, 2008 | 835 | 2008 |
| Large-scale discovery of novel genetic causes of developmental disorders Nature 519 (7542), 223-228, 2015 | 742 | 2015 |
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| Splicing in action: assessing disease causing sequence changes D Baralle, M Baralle Journal of medical genetics 42 (10), 737-748, 2005 | 567 | 2005 |
| An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c. 2970-2972 delAAT): evidence of a clinically significant NF1 … M Upadhyaya, SM Huson, M Davies, N Thomas, N Chuzhanova, ... The American Journal of Human Genetics 80 (1), 140-151, 2007 | 415 | 2007 |
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| A prospective study of neurofibromatosis type 1 cancer incidence in the UK L Walker, D Thompson, D Easton, B Ponder, M Ponder, I Frayling, ... British journal of cancer 95 (2), 233-238, 2006 | 274 | 2006 |
| Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ... The American Journal of Human Genetics 97 (2), 343-352, 2015 | 268 | 2015 |
| Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC) J Yardley, BP Leroy, N Hart-Holden, BA Lafaut, B Loeys, LM Messiaen, ... Investigative ophthalmology & visual science 45 (10), 3683-3689, 2004 | 260 | 2004 |
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| A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection C Blume, CL Jackson, CM Spalluto, J Legebeke, L Nazlamova, F Conforti, ... Nature genetics 53 (2), 205-214, 2021 | 164* | 2021 |
| Prediction of single‐nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6 M Raponi, J Kralovicova, E Copson, P Divina, D Eccles, P Johnson, ... Human mutation 32 (4), 436-444, 2011 | 147 | 2011 |
| Missed threads: The impact of pre‐mRNA splicing defects on clinical practice D Baralle, A Lucassen, E Buratti EMBO reports 10 (8), 810-816, 2009 | 132 | 2009 |
| 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 | 131 | 2020 |
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| RNA splicing in human disease and in the clinic D Baralle, E Buratti Clinical science 131 (5), 355-368, 2017 | 109 | 2017 |
| Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay M Baralle, D Baralle, L De Conti, C Mattocks, J Whittaker, A Knezevich, ... Journal of medical genetics 40 (3), 220-222, 2003 | 105 | 2003 |
Emanuele BurattiICGEBVerified email at icgeb.org
