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

DoBSeqWF: a framework for sensitive detection of individual genetic variation in pooled sequencing data

DoBSeqWF:一种用于灵敏检测混合测序数据中个体遗传变异的框架

Cort Nielsen, Mads; Hagen, Christian Munch; Stoltze, Ulrik Kristoffer; Hansen, Thomas van Overeem; Nyegaard, Mette; Hjalgrim, Henrik; Bækvad-Hansen, Marie; Byrjalsen, Anna; Schmiegelow, Kjeld; Wadt, Karin; Bybjerg-Grauholm, Jonas; Rasmussen, Simon

Case report: Onychopapilloma in a patient with BAP1 tumor predisposition syndrome-a useful clinical marker?

病例报告:BAP1肿瘤易感综合征患者的甲乳头状瘤——一种有用的临床标志物?

Sjøstrøm, Emilie; Ahlborn, Lise Barlebo; Eliesen, Elisabeth Victoria; Wadt, Karin; Lei, Ulrikke; Byrjalsen, Anna

Re-evaluating hereditary breast and ovarian cancer risk: clinical impact of updated multigene panel sequencing and genetic counseling

重新评估遗传性乳腺癌和卵巢癌风险:更新的多基因panel测序和遗传咨询的临床影响

Gislinge, Julie Isabelle Plougmann; Byrjalsen, Anna; Naver, Klara Vinsand; Clausen, Helle Vibeke; Ravn, Pernille; Petersen, Kresten Rubeck; Wadt, Karin A W

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis

血液系统恶性肿瘤易感基因DDX41的双等位基因种系变异通过扰乱视网膜稳态导致视网膜营养不良。

Mars, Zoéline; Zanetti, Andrea; Kaminska, Karolina; Miyagawa, Takero; Liu, Duanya; Antonio, Aline; Arno, Gavin; Audo, Isabelle; Ayuso, Carmen; Muhammad Jafar Hussain, Hafiz; Bao, Xuan; Barberán-Martínez, Pilar; Bocquet, Béatrice; Boguszewska-Chachulska, Anna; Condroyer, Christel; David, Pierre; Dollfus, Hélène; Fares-Taie, Lucas; Fernández-Caballero, Lidia; García-García, Gema; Michel, Victor; Guerrera, Chiara Ida; Jung, Vincent; Kessel, Line; Gioja, Louise; Lin, Siying; Matczynska, Ewa; Millán, Jose M; Moye, Abigail R; Martín-Gutiérrez, M Pilar; Quinodoz, Mathieu; Robert, Matthieu P; Roger, Jerome E; Sousa-Luis, Rui; Swafiri, Saoud Tahsin; Teper, Slawomir; Meunier, Isabelle; Patat, Olivier; Pennesi, Mark E; Wadt, Karin A W; Wang, Meng; Webster, Andrew R; Yang, Paul; Yumei, Li; Zeitz, Christina; Rieux-Laucat, Frederic; Giraudier, Stéphane; Chen, Rui; Fica, Sebastian M; Rivolta, Carlo; Sebert, Marie; Rozet, Jean-Michel; Perrault, Isabelle

CD19 exon 2 skipping is a potential prognostic correlate of anti-CD19 CAR-T therapy relapse

CD19 外显子 2 跳跃是抗 CD19 CAR-T 疗法复发的潜在预后相关因素

Dam, Søren Helweg; Moranzoni, Giorgia; Høie, Magnus Haraldson; Modvig, Signe; Wadt, Karin A W; Als-Nielsen, Bodil; Schmiegelow, Kjeld; Vitting-Seerup, Kristoffer; Barnkob, Mike Bogetofte; Olsen, Lars Rønn

Data-driven discovery of gene expression markers distinguishing pediatric acute lymphoblastic leukemia subtypes

基于数据驱动的基因表达标记物发现,用于区分儿童急性淋巴细胞白血病亚型

Nourbakhsh, Mona; Tom, Nikola; Schrøder Lassen, Anna; Brasch Lind Petersen, Helene; Stoltze, Ulrik Kristoffer; Wadt, Karin; Schmiegelow, Kjeld; Tiberti, Matteo; Papaleo, Elena

Time trends, uptake, and oncological effects of risk-reducing surgeries in 3067 Danish BRCA1/2 carriers: a population-based study with matched controls

一项基于人群并设有匹配对照组的研究:3067 名丹麦 BRCA1/2 基因携带者接受风险降低手术的时间趋势、接受率和肿瘤学效应。

Willert, Cecilie Balslev; Mellemkjær, Lene; Tolver, Anders; Gerdes, Anne-Marie Axø; Rosthøj, Susanne; Wadt, Karin; Kroman, Niels; Bidstrup, Pernille Envold; Hölmich, Lisbet Rosenkrantz

Timely germline BRCA testing after invasive breast cancer promotes contralateral risk-reducing mastectomy and improves survival: an observational retrospective study

及时进行生殖系 BRCA 基因检测可促进对侧风险降低性乳房切除术并提高生存率:一项观察性回顾性研究

Kostov, Aleksandar M; Jensen, Maj-Britt; Ejlertsen, Bent; Thomassen, Mads; Rossing, Maria; Pedersen, Inge S; Petersen, Annabeth H; Christensen, Lise Lotte; Wadt, Karin A W; Berrocal-Almanza, Luis C; Miranda, Miguel; Lænkholm, Anne-Vibeke

Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000

丹麦乳腺癌患者接受生殖系BRCA基因检测:2000年以来的进展

Kostov, Aleksandar M; Jensen, Maj-Britt; Ejlertsen, Bent; Thomassen, Mads; Rossing, Caroline Maria; Pedersen, Inge S; Petersen, Annabeth H; Christensen, Lise Lotte; Wadt, Karin A W; Lænkholm, Anne-Vibeke

The evolutionary impact of childhood cancer on the human gene pool

儿童癌症对人类基因库的进化影响

Stoltze, Ulrik Kristoffer; Foss-Skiftesvik, Jon; Hansen, Thomas van Overeem; Rasmussen, Simon; Karczewski, Konrad J; Wadt, Karin A W; Schmiegelow, Kjeld