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1.	Jacquemont, S, et al. (author) Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus 2011 In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 478:7367, s. 97-U111 Journal article (peer-reviewed)
2.	Denomme-Pichon, AS, et al. (author) Solve-RD: the ITHACA perspective 2022 In: EUROPEAN JOURNAL OF HUMAN GENETICS. - 1018-4813. ; 30:SUPPL 1, s. 236-237 Conference paper (other academic/artistic)
3.	Lindstrand, A, et al. (author) Integration of genome sequencing into health care - experiences from 3211 rare disease patients show high diagnostic rates across multiple clinical entities 2020 In: EUROPEAN JOURNAL OF HUMAN GENETICS. - : SPRINGERNATURE. - 1018-4813 .- 1476-5438. ; 28:SUPPL 1, s. 52-53 Conference paper (other academic/artistic)
4.	Van Dijck, A, et al. (author) Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP 2019 In: Biological psychiatry. - : Elsevier BV. - 1873-2402 .- 0006-3223. ; 85:4, s. 287-297 Journal article (peer-reviewed)
5.	Wang, TY, et al. (author) Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders 2020 In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1, s. 5398- Journal article (other academic/artistic)abstract An amendment to this paper has been published and can be accessed via a link at the top of the paper.
6.	Wang, T, et al. (author) Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders 2020 In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1, s. 4932- Journal article (peer-reviewed)abstract Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error rate (FWER) significance (p < 1.25E−06). Among these 125 targeted genes, we also reevaluate DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1); of which, 61 reach FWER significance (p < 3.64E−07; e.g., CASZ1). In addition to doubling the number of patients for many NDD risk genes, we present phenotype–genotype correlations for seven risk genes (CTCF, HNRNPU, KCNQ3, ZBTB18, TCF12, SPEN, and LEO1) based on this large-scale targeted sequencing effort.
7.	Bengani, H, et al. (author) Clinical and molecular consequences of disease-associated de novo mutations in SATB2 2017 In: Genetics in medicine : official journal of the American College of Medical Genetics. - : Elsevier BV. - 1530-0366. ; 19:8, s. 900-908 Journal article (peer-reviewed)
8.	Cogne, B, et al. (author) Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability 2019 In: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 104:3, s. 530-541 Journal article (peer-reviewed)
9.	Stessman, HAF, et al. (author) Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases 2017 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 49:4, s. 515- Journal article (peer-reviewed)
10.	Swat, M. J., et al. (author) Pharmacometrics Markup Language (PharmML) : Opening New Perspectives for Model Exchange in Drug Development 2015 In: CPT. - : American Society for Clinical Pharmacology & Therapeutics. - 2163-8306. ; 4:6, s. 316-319 Journal article (peer-reviewed)abstract The lack of a common exchange format for mathematical models in pharmacometrics has been a long-standing problem. Such a format has the potential to increase productivity and analysis quality, simplify the handling of complex workflows, ensure reproducibility of research, and facilitate the reuse of existing model resources. Pharmacometrics Markup Language (PharmML), currently under development by the Drug Disease Model Resources (DDMoRe) consortium, is intended to become an exchange standard in pharmacometrics by providing means to encode models, trial designs, and modeling steps.

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Result 1-10 of 278

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Type of publication: journal article (243); conference paper (23); other publication (4); research review (3); reports (2); book chapter (2); show more...; book (1); show less...

Type of content: peer-reviewed (220); other academic/artistic (58)

Author/Editor: Nordgren, A (103); NORDGREN, J (65); Lindstrand, A (37); Nordgren, Joseph (35); Nordenskjold, M (34); Guo, J.-H. (25); show more...; Grigelioniene, G (24); Nilsson, D (21); Kvarnung, M (21); Anderlid, BM (18); Taylan, F (18); Butorin, S M (17); Hammarsjo, A (15); Heyman, M. (14); Nishimura, G (14); Pettersson, M. (13); Zachariadis, V (13); Malmgren, H (13); Barbany, G (11); Lagerstedt-Robinson, ... (11); Neumann, M. (10); GUO, JH (10); Qian, L (10); Nordgren, H (10); Tham, E. (10); WASSDAHL, N (9); Schoumans, J (9); Blennow, E (9); Eisfeldt, J (9); Käämbre, Tanel (8); Gustavsson, P (8); Mårtensson, Nils (8); Anderlid, B (8); Rubensson, J. -E. (8); Guo, Jinghua (8); Nordgren, Ann, 1964 (8); Rudolf, P. (8); Ahuja, Rajeev (7); Rubensson, Jan-Erik (7); Luo, Yi (7); Kjeldgaard, L. (7); Kjeldgaard, Lisbeth (7); Wincent, J (7); Nordenskjöld, M (7); Augustsson, A (7); Batkovskyte, D (7); Rosenfeld, JA (7); Bliman, S (7); Bruch, R (7); Cornille, M (7); show less...

University: Karolinska Institutet (129); Uppsala University (115); Lund University (25); Linköping University (24); Royal Institute of Technology (20); University of Gothenburg (19); show more...; Umeå University (13); Mid Sweden University (5); Stockholm University (4); Örebro University (3); University of Borås (3); RISE (3); Karlstad University (3); Mälardalen University (2); Chalmers University of Technology (2); Halmstad University (1); Malmö University (1); show less...

Language: English (271); Undefined language (5); Swedish (2)

Research subject (UKÄ/SCB): Medical and Health Sciences (48); Natural sciences (47); Social Sciences (6); Engineering and Technology (5); Humanities (3)

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