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Page 1
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Pascual P, Tenorio-Castano J, Mignot C, Afenjar A, Arias P, Gallego-Zazo N, Parra A, Miranda L, Cazalla M, Silván C, Heron D, Keren B, Popa I, Palomares M, Rikeros E, Ramos FJ, Almoguera B, Ayuso C, Swafiri ST, Barbero AIS, Srinivasan VM, Gowda VK, Morleo M, Nigro V, D'Arrigo S, Ciaccio C, Martin Mesa C, Paumard B, Guillen G, Anton ATS, Jimenez MD, Seidel V, Suárez J, Cormier-Daire V, Consortium TS, Nevado J, Lapunzina P. Pascual P, et al. Among authors: nigro v. Genes (Basel). 2023 Aug 23;14(9):1664. doi: 10.3390/genes14091664. Genes (Basel). 2023. PMID: 37761804 Free PMC article. Review.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
de Boer E, Ockeloen CW, Matalonga L, Horvath R; Solve-RD SNV-indel working group; Rodenburg RJ, Coenen MJH, Janssen M, Henssen D, Gilissen C, Steyaert W, Paramonov I; Solve-RD-DITF-ITHACA; Trimouille A, Kleefstra T, Verloes A, Vissers LELM. de Boer E, et al. Eur J Hum Genet. 2021 Sep;29(9):1359-1368. doi: 10.1038/s41431-021-00900-2. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075211 Free PMC article.
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia. Matalonga L, et al. Eur J Hum Genet. 2021 Sep;29(9):1337-1347. doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075210 Free PMC article.
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortium. Matalonga L, et al. Eur J Hum Genet. 2021 Sep;29(9):1466-1469. doi: 10.1038/s41431-021-00934-6. Eur J Hum Genet. 2021. PMID: 34393220 Free PMC article. No abstract available.
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
de Boer E, Ockeloen CW, Matalonga L, Horvath R; Solve-RD SNV-indel working group; Rodenburg RJ, Coenen MJH, Janssen M, Henssen D, Gilissen C, Steyaert W, Paramonov I; Solve-RD-DITF-ITHACA; Trimouille A, Kleefstra T, Verloes A, Vissers LELM. de Boer E, et al. Eur J Hum Genet. 2021 Sep;29(9):1470-1471. doi: 10.1038/s41431-021-00937-3. Eur J Hum Genet. 2021. PMID: 34267341 Free PMC article. No abstract available.
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Jones AG, Aquilino M, Tinker RJ, Duncan L, Jenkins Z, Carvill GL, DeWard SJ, Grange DK, Hajianpour MJ, Halliday BJ, Holder-Espinasse M, Horvath J, Maitz S, Nigro V, Morleo M, Paul V, Spencer C, Esterhuizen AI, Polster T, Spano A, Gómez-Lozano I, Kumar A, Poke G, Phillips JA 3rd, Underhill HR, Gimenez G, Namba T, Robertson SP. Jones AG, et al. Among authors: nigro v. Am J Hum Genet. 2024 Apr 4;111(4):729-741. doi: 10.1016/j.ajhg.2024.03.005. Am J Hum Genet. 2024. PMID: 38579670
323 results