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

Deep genome sequencing reveals extensive genetic heterogeneity in early human placentas.

深度基因组测序揭示了早期人类胎盘中广泛的遗传异质性

Miceikaite Ieva, Fagerberg Christina, Brasch-Andersen Charlotte, Torring Pernille M, Schlott Kristiansen Britta, Hao Qin, Sperling Lene, Larsen Martin J

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

关于“CERT1突变通过破坏鞘脂稳态扰乱人类发育”一文的更正

Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Tran Mau-Them, Frederic; Maddocks, Alexis Br; Bain, Jennifer M; Bhat, Musadiq A; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L; Friez, Michael J; Richardson, Ellen B; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Gupta, Yask; Lim, Tze Y; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E; Jakšić, Ana Marija; McCabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A

Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant

一名表型正常的男性携带 BRCA1 外显子 20 重复,该重复与 BRCA1 移码变异呈反式关系。

Block, Ines; Mateu-Regué, Àngels; Do, Thi Tuyet Nhu; Miceikaite, Ieva; Sdogati, Daniel; Larsen, Martin J; Hao, Qin; Nielsen, Henriette Roed; Boonen, Susanne E; Skytte, Anne-Bine; Jensen, Uffe Birk; Høffding, Louise K; De Nicolo, Arcangela; Viel, Alessandra; Tudini, Emma; Parsons, Michael T; Hansen, Thomas V O; Rossing, Maria; Kruse, Torben A; Spurdle, Amanda B; Thomassen, Mads

Ensemble-based classification using microRNA expression identifies a breast cancer patient subgroup with an ultralow long-term risk of metastases

基于microRNA表达的集成学习分类方法识别出一个乳腺癌患者亚组,该亚组具有极低的长期转移风险。

Block, Ines; Burton, Mark; Sørensen, Kristina P; Larsen, Martin J; Do, Thi T N; Bak, Martin; Cold, Søren; Thomassen, Mads; Tan, Qihua; Kruse, Torben A

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

CERT1基因突变通过破坏鞘脂稳态来扰乱人类发育。

Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Tran Mau-Them, Frederic; Maddocks, Alexis Br; Bain, Jennifer M; Bhat, Musadiq A; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L; Friez, Michael J; Richardson, Ellen B; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Gupta, Yask; Lim, Tze Y; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E; Jakšić, Ana Marjia; McCabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A

Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

非BRCA1/BRCA2高危家族性乳腺癌与BRCA基因的高发率无关。

Andersen, Lars V B; Larsen, Martin J; Davies, Helen; Degasperi, Andrea; Nielsen, Henriette Roed; Jensen, Louise A; Kroeldrup, Lone; Gerdes, Anne-Marie; Lænkholm, Anne-Vibeke; Kruse, Torben A; Nik-Zainal, Serena; Thomassen, Mads

Comparison of the Metastasis Predictive Potential of mRNA and Long Non-Coding RNA Profiling in Systemically Untreated Breast Cancer.

比较 mRNA 和长链非编码 RNA 分析在系统性未治疗乳腺癌中对转移的预测潜力。

Do Thi T N, Block Ines, Burton Mark, Sørensen Kristina P, Larsen Martin J, Bak Martin, Cold Søren, Thomassen Mads, Tan Qihua, Kruse Torben A

Global Gene Expression Profiling and Transcription Factor Network Analysis of Cognitive Aging in Monozygotic Twins

单卵双胞胎认知老化的全基因组表达谱和转录因子网络分析

Mohammadnejad, Afsaneh; Li, Weilong; Lund, Jesper Beltoft; Li, Shuxia; Larsen, Martin J; Mengel-From, Jonas; Michel, Tanja Maria; Christiansen, Lene; Christensen, Kaare; Hjelmborg, Jacob; Baumbach, Jan; Tan, Qihua

Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children.

外显子组测序揭示了 NCOR1、IGF2BP1、SGLT2 和 NEK11 中的 DNA 变异可能是儿童酮症性低血糖症的新病因

Alhaidan Yazeid, Larsen Martin J, Schou Anders Jørgen, Stenlid Maria H, Al Balwi Mohammed A, Christesen Henrik Thybo, Brusgaard Klaus

A Genome-Wide Integrative Association Study of DNA Methylation and Gene Expression Data and Later Life Cognitive Functioning in Monozygotic Twins

同卵双胞胎DNA甲基化和基因表达数据与晚年认知功能的全基因组整合关联研究

Soerensen, Mette; Hozakowska-Roszkowska, Dominika Marzena; Nygaard, Marianne; Larsen, Martin J; Schwämmle, Veit; Christensen, Kaare; Christiansen, Lene; Tan, Qihua