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1.	Lee, SH, et al. (author) Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs 2013 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:9, s. 984- Journal article (peer-reviewed)
2.	O'Dushlaine, C, et al. (author) Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways 2015 In: Nature neuroscience. - : Springer Science and Business Media LLC. - 1546-1726 .- 1097-6256. ; 18:2, s. 199-209 Journal article (peer-reviewed)
3.	Bastard, P, et al. (author) Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths 2021 In: Science immunology. - : American Association for the Advancement of Science (AAAS). - 2470-9468. ; 6:62 Journal article (peer-reviewed)abstract Autoantibodies neutralizing type I IFNs increase in prevalence over 60 years of age and underlie about 20% of all fatal COVID-19 cases.
4.	Juhlin, CC, et al. (author) Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma 2015 In: The Journal of clinical endocrinology and metabolism. - : The Endocrine Society. - 1945-7197 .- 0021-972X. ; 100:3, s. E493-E502 Journal article (peer-reviewed)
5.	Liu, YX, et al. (author) Whole-Exome Sequencing of Germline Variants in Non-BRCA Families with Hereditary Breast Cancer 2022 In: Biomedicines. - : MDPI AG. - 2227-9059. ; 10:5 Journal article (peer-reviewed)abstract Breast cancer is the most prevalent malignancy among women worldwide and hereditary breast cancer (HBC) accounts for about 5–10% of the cases. Today, the most recurrent genes known are BRCA1 and BRCA2, accounting for around 25% of familial cases. Although thousands of loss-of-function variants in more than twenty predisposing genes have been found, the majority of familial cases of HBC remain unexplained. The aim of this study was to identify new predisposing genes for HBC in three non-BRCA families with autosomal dominant inheritance pattern using whole-exome sequencing and functional prediction tools. No pathogenic variants in known hereditary cancer-related genes could explain the breast cancer susceptibility in these families. Among 2122 exonic variants with maximum minor allele frequency (MMAF) < 0.1%, between 17–35 variants with combined annotation-dependent depletion (CADD) > 20 segregated with disease in the three analyzed families. Selected candidate genes, i.e., UBASH3A, MYH13, UTP11L, and PAX7, were further evaluated using protein expression analysis but no alterations of cancer-related pathways were observed. In conclusion, identification of new high-risk cancer genes using whole-exome sequencing has been more challenging than initially anticipated, in spite of selected families with pronounced family history of breast cancer. A combination of low- and intermediate-genetic-risk variants may instead contribute the breast cancer susceptibility in these families.

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Type of publication: journal article (5)

Type of content: peer-reviewed (5)

Author/Editor: Meyer, J. (2); Battaglia, A. (2); Li, J. (2); Schumacher, J. (2); Hottenga, JJ (2); Willemsen, G (2); show more...; Nelson, SF (2); Agartz, I (2); Andreassen, OA (2); Melle, I (2); Djurovic, S (2); Day, R. (2); Lee, PH (2); Xu, W (2); Raychaudhuri, S (2); Zhang, P (2); Sullivan, PF (2); de Geus, EJ (2); Boomsma, DI (2); Breen, G (2); Landén, Mikael, 1966 (2); Landen, M (2); Lathrop, M (2); Corvin, A (2); Gurling, H (2); Pato, CN (2); Pato, MT (2); Craddock, N (2); Rujescu, D (2); Werge, T (2); Hultman, CM (2); Stroup, TS (2); Lieberman, JA (2); van den Oord, EJCG (2); Magnusson, PKE (2); OSBY, U (2); Ophoff, RA (2); Mattheisen, M (2); Buitelaar, JK (2); Cahn, W (2); Cichon, S (2); Holsboer, F (2); Kahn, RS (2); McMahon, FJ (2); Montgomery, GW (2); Morris, DW (2); Muhleisen, TW (2); Muller-Myhsok, B (2); Nothen, MM (2); Rietschel, M (2); show less...

University: Karolinska Institutet (5); University of Gothenburg (3)

Language: English (5)

Research subject (UKÄ/SCB): Medical and Health Sciences (3)

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