日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?

内含子 BRCA1 c.5407-25T>A 变异导致外显子 23 部分跳跃 - 可能是一种具有降低渗透力的致病变异？

期刊:European Journal of Human Genetics
影响因子:3.7
doi:10.1038/s41431-020-0612-1
Hildegunn Høberg-Vetti, Elisabet Ognedal, Adrien Buisson, Tone Bøe Aaman Vamre, Sarah Ariansen, Jacqueline M Hoover, Geir Egil Eide, Gunnar Houge, Torunn Fiskerstrand, Bjørn Ivar Haukanes, Cathrine Bjorvatn #, Per Morten Knappskog #1
BRCA1
发表日期：2020
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The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

发现与早衰症表现相关的 LEMD2 相关核膜病，为 AI 驱动的面部表型分析带来高级应用

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.02.021
Felix Marbach, Cecilie F Rustad, Angelika Riess, Dejan Đukić, Tzung-Chien Hsieh, Itamar Jobani, Trine Prescott, Andrea Bevot, Florian Erger, Gunnar Houge, Maria Redfors, Janine Altmueller, Tomasz Stokowy, Christian Gilissen, Christian Kubisch, Emanuela Scarano, Laura Mazzanti, Torunn Fiskerstrand, P
EMD
发表日期：2019
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Improving ambulance coverage in a mixed urban-rural region in Norway using mathematical modeling

利用数学模型改善挪威城乡混合地区的救护车覆盖率

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0215385
van den Berg, Pieter L; Fiskerstrand, Peter; Aardal, Karen; Einerkjær, Jørgen; Thoresen, Trond; Røislien, Jo
发表日期：2019
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Comparison of pre-analytical conditions for quantification of serotonin in platelet-poor plasma

血小板贫乏血浆中血清素定量分析的预分析条件比较

期刊:Practical Laboratory Medicine
影响因子:1.3
doi:10.1016/j.plabm.2019.e00136
Von Volkmann, Hilde L; Brønstad, Ingeborg; Fiskerstrand, Torunn; Gudbrandsen, Oddrun Anita
血小板
发表日期：2019
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Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families

重复的增强子区域增加 CTSB 的表达，并与南非和挪威家族中的角质溶解性冬季红斑共分离

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2017.03.012
Ngcungcu, Thandiswa; Oti, Martin; Sitek, Jan C; Haukanes, Bjørn I; Linghu, Bolan; Bruccoleri, Robert; Stokowy, Tomasz; Oakeley, Edward J; Yang, Fan; Zhu, Jiang; Sultan, Marc; Schalkwijk, Joost; van Vlijmen-Willems, Ivonne M J J; von der Lippe, Charlotte; Brunner, Han G; Ersland, Kari M; Grayson, Wayne; Buechmann-Moller, Stine; Sundnes, Olav; Nirmala, Nanguneri; Morgan, Thomas M; van Bokhoven, Hans; Steen, Vidar M; Hull, Peter R; Szustakowski, Joseph; Staedtler, Frank; Zhou, Huiqing; Fiskerstrand, Torunn; Ramsay, Michele
发表日期：2017
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Prolonged intestinal transit and diarrhea in patients with an activating GUCY2C mutation

携带激活型GUCY2C突变的患者会出现肠道蠕动延长和腹泻。

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0185496
von Volkmann, Hilde L; Brønstad, Ingeborg; Gilja, Odd Helge; R Tronstad, Rune; Sangnes, Dag Andre; Nortvedt, Ragnar; Hausken, Trygve; Dimcevski, Georg; Fiskerstrand, Torunn; Nylund, Kim
发表日期：2017
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Syndromic X-linked intellectual disability segregating with a missense variant in RLIM

与RLIM基因错义变异相关的X连锁综合征型智力障碍

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2015.30
Tønne, Elin; Holdhus, Rita; Stansberg, Christine; Stray-Pedersen, Asbjørg; Petersen, Kjell; Brunner, Han G; Gilissen, Christian; Hoischen, Alexander; Prescott, Trine; Steen, Vidar M; Fiskerstrand, Torunn
发表日期：2015
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Friedreich ataxia in Norway - an epidemiological, molecular and clinical study

挪威弗里德赖希共济失调——一项流行病学、分子和临床研究

期刊:Orphanet Journal of Rare Diseases
影响因子:3.4
doi:10.1186/s13023-015-0328-4
Iselin Marie Wedding, Mette Kroken, Sandra Pilar Henriksen, Kaja Kristine Selmer, Torunn Fiskerstrand, Per Morten Knappskog, Tone Berge, Chantal M E Tallaksen
信号转导
发表日期：2015
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STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity

常染色体隐性遗传性共济失调中的 STUB1 突变 - 突变特异性临床异质性的证据

期刊:Orphanet Journal of Rare Diseases
影响因子:3.4
doi:10.1186/s13023-014-0146-0
Ketil Heimdal, Monica Sanchez-Guixé, Ingvild Aukrust, Jens Bollerslev, Ove Bruland, Greg Eigner Jablonski, Anne Kjersti Erichsen, Einar Gude, Jeanette A Koht, Sigrid Erdal, Torunn Fiskerstrand, Bjørn Ivar Haukanes, Helge Boman, Lise Bjørkhaug, Chantal M E Tallaksen, Per M Knappskog, Stefan Johansson
发表日期：2014
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Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

由于 IFT-A 基因 WDR19 突变导致的纤毛病，伴有骨骼异常和肾功能不全

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.10.001
Cecilie Bredrup, Sophie Saunier, Machteld M Oud, Torunn Fiskerstrand, Alexander Hoischen, Damien Brackman, Sabine M Leh, Marit Midtbø, Emilie Filhol, Christine Bole-Feysot, Patrick Nitschké, Christian Gilissen, Olav H Haugen, Jan-Stephan F Sanders, Irene Stolte-Dijkstra, Dorus A Mans, Eric J Steenbe
发表日期：2011
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