Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands - PubMed (original) (raw)

• Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
  Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann GF, Cho… See abstract for full author list ➔ Schmidt A, et al. Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039281 Free PMC article.
• Methods of Detection and Mechanisms of Origin of Complex Structural Genome Variations.
  Poot M. Poot M. Methods Mol Biol. 2024;2825:39-65. doi: 10.1007/978-1-0716-3946-7_2. Methods Mol Biol. 2024. PMID: 38913302 Review.
• Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies.
  Tolmacheva E, Bolshakova AS, Shubina J, Rogacheva MS, Ekimov AN, Podurovskaya JL, Burov AA, Rebrikov DV, Bychenko VG, Trofimov DY, Sukhikh GT. Tolmacheva E, et al. BMC Med Genomics. 2024 May 14;17(1):130. doi: 10.1186/s12920-024-01857-z. BMC Med Genomics. 2024. PMID: 38745205 Free PMC article.
• Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil.
  de Carvalho AFL, Alves ES, Pitanga PML, Ribeiro EM, Doriqui MJR, Toralles MBP, Topázio BA, Dos Santos JF, de Lima RLLF, Kulikowski LD, Acosta AX. de Carvalho AFL, et al. J Pediatr Genet. 2022 Nov 14;13(2):90-98. doi: 10.1055/s-0042-1757888. eCollection 2024 Jun. J Pediatr Genet. 2022. PMID: 38721574 Free PMC article.
• A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD.
  Chaves TF, Ocampos M, Barbato IT, de Camargo Pinto LL, de Luca GR, Barbato Filho JH, Bernardi P, Costa Netto Muniz Y, Francesca Maris A. Chaves TF, et al. Sci Rep. 2024 Feb 14;14(1):3762. doi: 10.1038/s41598-024-54385-2. Sci Rep. 2024. PMID: 38355898 Free PMC article.