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Page 1
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J. Gil-Rodríguez MC, et al. Among authors: kuchinskaya e. Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25655089 Free article.
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
Zhao JJ, Halvardson J, Zander CS, Zaghlool A, Georgii-Hemming P, Månsson E, Brandberg G, Sävmarker HE, Frykholm C, Kuchinskaya E, Thuresson AC, Feuk L. Zhao JJ, et al. Among authors: kuchinskaya e. Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):10-20. doi: 10.1002/ajmg.b.32574. Epub 2017 Oct 9. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 28990276 Free PMC article.
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Lindstrand A, Ek M, Kvarnung M, Anderlid BM, Björck E, Carlsten J, Eisfeldt J, Grigelioniene G, Gustavsson P, Hammarsjö A, Helgadóttir HT, Hellström-Pigg M, Kuchinskaya E, Lagerstedt-Robinson K, Levin LÅ, Lieden A, Lindelöf H, Malmgren H, Nilsson D, Svensson E, Paucar M, Sahlin E, Tesi B, Tham E, Winberg J, Winerdal M, Wincent J, Johansson Soller M, Pettersson M, Nordgren A. Lindstrand A, et al. Among authors: kuchinskaya e. Genet Med. 2022 Nov;24(11):2296-2307. doi: 10.1016/j.gim.2022.07.022. Epub 2022 Sep 6. Genet Med. 2022. PMID: 36066546 Free article.
A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients.
Wendt C, Muranen TA, Mielikäinen L, Thutkawkorapin J, Blomqvist C, Jiao X, Ehrencrona H, Tham E, Arver B, Melin B, Kuchinskaya E, Stenmark Askmalm M, Paulsson-Karlsson Y, Einbeigi Z, von Wachenfeldt Väppling A, Kalso E, Tasmuth T, Kallioniemi A, Aittomäki K, Nevanlinna H, Borg Å, Lindblom A. Wendt C, et al. Among authors: kuchinskaya e. Sci Rep. 2021 Jul 20;11(1):14763. doi: 10.1038/s41598-021-93926-x. Sci Rep. 2021. PMID: 34285278 Free PMC article.
Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition.
Olkinuora A, Nieminen TT, Mårtensson E, Rohlin A, Ristimäki A, Koskenvuo L, Lepistö A; Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group; Gebre-Medhin S, Nordling M, Peltomäki P. Olkinuora A, et al. Genet Med. 2019 Aug;21(8):1868-1873. doi: 10.1038/s41436-018-0405-x. Epub 2018 Dec 21. Genet Med. 2019. PMID: 30573798 Free PMC article.
Familial platelet disorder due to germline exonic deletions in RUNX1: a diagnostic challenge with distinct alterations of the transcript isoform equilibrium.
Engvall M, Karlsson Y, Kuchinskaya E, Jörnegren Å, Mathot L, Pandzic T, Palle J, Ljungström V, Cavelier L, Hellström Lindberg E, Cammenga J, Baliakas P. Engvall M, et al. Among authors: kuchinskaya e. Leuk Lymphoma. 2022 Oct;63(10):2311-2320. doi: 10.1080/10428194.2022.2067997. Epub 2022 May 9. Leuk Lymphoma. 2022. PMID: 35533071 Free article.
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.
Zhao S, Zhang Y, Hallgrimsdottir S, Zuo Y, Li X, Batkovskyte D, Liu S, Lindelöf H, Wang S, Hammarsjö A, Yang Y, Ye Y, Wang L, Yan Z, Lin J, Yu C, Chen Z, Niu Y, Wang H, Zhao Z, Liu P, Qiu G, Posey JE, Wu Z, Lupski JR, Micule I, Anderlid BM, Voss U, Sulander D, Kuchinskaya E, Nordgren A, Nilsson O; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Zhang TJ, Grigelioniene G, Wu N. Zhao S, et al. Among authors: kuchinskaya e. NPJ Genom Med. 2022 Feb 15;7(1):11. doi: 10.1038/s41525-021-00273-x. NPJ Genom Med. 2022. PMID: 35169139 Free PMC article.
Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort.
Svensson S, Zagoras T, Aravidis C, Askmalm MS, Björck E, Borg Å, Kuchinskaya E, Nilbert M, Nordling M, Rohlin A, Silander G, Lagerstedt-Robinson K, Gebre-Medhin S. Svensson S, et al. Among authors: kuchinskaya e. Genes Chromosomes Cancer. 2022 Oct;61(10):585-591. doi: 10.1002/gcc.23049. Epub 2022 May 2. Genes Chromosomes Cancer. 2022. PMID: 35430768 Free PMC article.
Whole-Body MRI Surveillance-Baseline Findings in the Swedish Multicentre Hereditary TP53-Related Cancer Syndrome Study (SWEP53).
Omran M, Tham E, Brandberg Y, Ahlström H, Lundgren C, Paulsson-Karlsson Y, Kuchinskaya E, Silander G, Rosén A, Persson F, Leonhardt H, Stenmark-Askmalm M, Berg J, van Westen D, Bajalica-Lagercrantz S, Blomqvist L; the Swedish Clinical TP53 Study Group (SweClinTP53). Omran M, et al. Among authors: kuchinskaya e. Cancers (Basel). 2022 Jan 13;14(2):380. doi: 10.3390/cancers14020380. Cancers (Basel). 2022. PMID: 35053544 Free PMC article.
36 results