文献库，生知库 | 链接生命科学的每一步

日期影响因子

Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia

一名患有遗传性出血性毛细血管扩张症的患者体内存在多个病灶特异性体细胞突变和ACVRL1双等位基因缺失

期刊:European Journal of Human Genetics

影响因子:4.6

doi:10.1038/s41431-025-01962-2

Darre Haahr, Pernille; Hao, Qin; Brusgaard, Klaus; Larsen, Martin Jakob; Lange, Bibi; Fialla, Annette Dam; Kofoed, Mikkel Seremet; Kjeldsen, Jens; Schultz, Nicolai Aagaard; Kjeldsen, Anette Drøhse; Tørring, Pernille Mathiesen

细胞生物学

发表日期：2026

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Multiomic profiling of glioblastoma metabolic lesions reveals complex intratumoral genomic evolution and dipeptidase-1-driven vascular proliferation

胶质母细胞瘤代谢病变的多组学分析揭示了复杂的肿瘤内基因组演变和二肽酶-1驱动的血管增殖

期刊:Neuro-Oncology

影响因子:13.4

doi:10.1093/neuonc/noaf071

Anand, Atul; Petersen, Jeanette Krogh; Andersen, Lars van Brakel; Burton, Mark; Oudenaarden, Clara Rosa Levina; Larsen, Martin Jakob; Erichsen, Philip Ahle; Pedersen, Christian Bonde; Poulsen, Frantz Rom; Grupe, Peter; Kruse, Torben A; Thomassen, Mads; Kristensen, Bjarne Winther

细胞生物学

发表日期：2025

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Mutational landscape of atherosclerotic plaques reveals large clonal cell populations.

动脉粥样硬化斑块的突变图谱揭示了大量的克隆细胞群

期刊:JCI Insight

影响因子:6.1

doi:10.1172/jci.insight.188281

Steffensen Lasse Bach, Kavan Stephanie, Jensen Pia SÃ¸ndergaard, Pedersen Matilde Kvist, BÃ¸ttger Steffen MÃ¸ller, Larsen Martin Jakob, Dembic Maja, Bergman Otto, Matic Ljubica, Hedin Ulf, Andersen Lars van Brakel, Lindholt Jes Sanddal, Houlind Kim Christian, Riber Lars Peter, Thomassen Mads, Rasmussen Lars Melholt

细胞生物学

发表日期：2025

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Preliminary evaluation of ShallowHRD performance compared to HRDetect in familial breast cancer tumors

初步评估 ShallowHRD 与 HRDetect 在家族性乳腺癌肿瘤中的性能比较

期刊:Scientific Reports

影响因子:3.9

doi:10.1038/s41598-025-14122-9

Adel Jensen, Louise; Baekgaard, Caroline Hey; Larsen, Mie Bohnensack; Boonen, Susanne Eriksen; Bak Jylling, Anne Marie; Hikmat, Zainab; Hao, Qin; van Overeem Hansen, Thomas; Pedersen, Inge Søkilde; Larsen, Martin Jakob; Thomassen, Mads

发表日期：2025

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Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip

对28个丹麦裔家庭进行全外显子组测序，揭示了发育性髋关节发育不良的新候选基因和通路。

期刊:Molecular Genetics and Genomics

影响因子:2.1

doi:10.1007/s00438-022-01980-5

Dembic, Maja; van Brakel Andersen, Lars; Larsen, Martin Jakob; Mechlenburg, Inger; Søballe, Kjeld; Hertz, Jens Michael

发育与干细胞

发表日期：2023

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Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients

全基因组测序可识别家族性胰腺癌患者中的罕见基因变异

期刊:Annals of Human Genetics

影响因子:1.2

doi:10.1111/ahg.12464

Tan, Ming; Brusgaard, Klaus; Gerdes, Anne-Marie; Larsen, Martin Jakob; Mortensen, Michael Bau; Detlefsen, Sönke; de Muckadell, Ove B Schaffalitzky; Joergensen, Maiken Thyregod

发表日期：2022

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Identification of metastasis driver genes by massive parallel sequencing of successive steps of breast cancer progression

通过对乳腺癌进展各个阶段进行大规模平行测序来鉴定转移驱动基因

期刊:PLoS One

影响因子:2.6

doi:10.1371/journal.pone.0189887

Krøigård, Anne Bruun; Larsen, Martin Jakob; Lænkholm, Anne-Vibeke; Knoop, Ann S; Jensen, Jeanette Dupont; Bak, Martin; Mollenhauer, Jan; Thomassen, Mads; Kruse, Torben A

发表日期：2018

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Genomic Analyses of Breast Cancer Progression Reveal Distinct Routes of Metastasis Emergence

乳腺癌进展的基因组分析揭示了不同的转移途径

期刊:Scientific Reports

影响因子:3.9

doi:10.1038/srep43813

Krøigård, Anne Bruun; Larsen, Martin Jakob; Brasch-Andersen, Charlotte; Lænkholm, Anne-Vibeke; Knoop, Ann S; Jensen, Jeanette Dupont; Bak, Martin; Mollenhauer, Jan; Thomassen, Mads; Kruse, Torben A

发表日期：2017

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DamX Controls Reversible Cell Morphology Switching in Uropathogenic Escherichia coli

DamX 控制泌尿道致病性大肠杆菌的可逆细胞形态转换

影响因子:4.7

doi:10.1128/mBio.00642-16

Khandige, Surabhi; Asferg, Cecilie Antoinette; Rasmussen, Karina Juhl; Larsen, Martin Jakob; Overgaard, Martin; Andersen, Thomas Emil; Møller-Jensen, Jakob

细胞生物学

发表日期：2016

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