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

Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities

进一步证据表明,双等位基因NAV3变异与隐性神经发育障碍相关,该障碍伴有畸形、发育迟缓、智力障碍和行为异常。

Kakar, Naseebullah; Mascarenhas, Selinda; Ali, Asmat; Azmatullah; Ijlal Haider, Syed M; Badiger, Vaishnavi Ashok; Ghofrani, Mobina Shadman; Kruse, Nathalie; Hashmi, Sohana Nadeem; Pozojevic, Jelena; Balachandran, Saranya; Toft, Mathias; Malik, Sajid; Händler, Kristian; Fatima, Ambrin; Iqbal, Zafar; Shukla, Anju; Spielmann, Malte; Radhakrishnan, Periyasamy

Haplotype Phasing of Biallelic WNT10B Variants Using Long-Read Sequencing in Split-Hand/Foot Malformation Syndrome

利用长读长测序技术对裂手/裂足畸形综合征中双等位基因WNT10B变异进行单倍型定相

Pozojevic, Jelena; Kakar, Naseebullah; Sczakiel, Henrike L; Kruse, Nathalie; Händler, Kristian; Balachandran, Saranya; Sreenivasan, Varun; Mensah, Martin A; Spielmann, Malte

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis

评估基因组测序策略:罕见病诊断中的三联体、单例和标准检测

Kaschta, Daniel; Post, Christina; Gaass, Franziska; Al-Tawil, Milad; Arriens, Vincent; Balachandran, Saranya; Bäumer, Tobias; Berge, Valerie; Birgel, Friederike; Dalski, Andreas; Dittmar, Maike; Franke, Andre; Franzenburg, Sören; Fuß, Janina; Gehring, Bettina; Gembicki, Rebecca; Greiten, Bianca; Grohte, Kristin; Hanker, Britta; Händler, Kristian; Harder, Lana; Hellenbroich, Yorck; Herget, Theresia; Herrmann, Gloria; Hiort, Olaf; Hoff, Kirstin; Hoffmann, Birga; Hornig, Nadine; Hüning, Irina; Kautza-Lucht, Monika; Köhler, Juliane; Liegmann, Anna-Sophie; Lisfeld, Jasmin; Löscher, Britt-Sabina; Margraf, Nils G; Meyenborg, Michelle; Möllring, Anna; Muhle, Hiltrud; Penas, Eva Maria Murga; Nommels, Henning; Papingi, Dzhoy; Poggenburg, Imke; Pozojevic, Jelena; Rosenstiel, Philip; Recke, Andreas; Roberts, Kimberly; Rösler, Laelia; Rust, Franka; Salewski, Maj-Britt; Schau-Römer, Katharina; Schlein, Christian; Sreenivasan, Varun K A; Toutouna, Louiza; Utermann-Thüsing, Caroline; van der Ven, Amelie T; Volk, Alexander E; Wehnert, Janne; Wilson, Sandra; Woitschach, Rixa; Yumiceba, Veronica; Zühlke, Christine; Münchau, Alexander; Brüggemann, Norbert; Vater, Inga; Caliebe, Almuth; Nagel, Inga; Spielmann, Malte

STIGMA: Single-cell tissue-specific gene prioritization using machine learning

STIGMA:利用机器学习进行单细胞组织特异性基因优先级排序

Balachandran, Saranya; Prada-Medina, Cesar A; Mensah, Martin A; Glaser, Juliane; Kakar, Naseebullah; Nagel, Inga; Pozojevic, Jelena; Audain, Enrique; Hitz, Marc-Phillip; Kircher, Martin; Sreenivasan, Varun K A; Spielmann, Malte

STIGMA: Single-cell tissue-specific gene prioritization using machine learning

STIGMA:利用机器学习进行单细胞组织特异性基因优先级排序

Balachandran, Saranya; Prada-Medina, Cesar A; Mensah, Martin A; Kakar, Naseebullah; Nagel, Inga; Pozojevic, Jelena; Audain, Enrique; Hitz, Marc-Phillip; Kircher, Martin; Sreenivasan, Varun K A; Spielmann, Malte

LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome

LINE1 介导的雄激素受体转录表观遗传抑制导致雄激素不敏感综合征

Jelena Pozojevic, Radhika Sivaprasad, Joshua Laß, Franziska Haarich, Joanne Trinh, Naseebullah Kakar, Kristin Schulz, Kristian Händler, Annemarie A Verrijn Stuart, Jacques C Giltay, Koen L van Gassen, Almuth Caliebe, Paul-Martin Holterhus, Malte Spielmann, Nadine C Hornig3

Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset

XDP中的嵌合型发散重复序列中断会影响重复序列的稳定性以及疾病的发生

Trinh, Joanne; Lüth, Theresa; Schaake, Susen; Laabs, Björn-Hergen; Schlüter, Kathleen; Laβ, Joshua; Pozojevic, Jelena; Tse, Ronnie; König, Inke; Jamora, Roland Dominic; Rosales, Raymond L; Brüggemann, Norbert; Saranza, Gerard; Diesta, Cid Czarina E; Kaiser, Frank J; Depienne, Christel; Pearson, Christopher E; Westenberger, Ana; Klein, Christine

Single-Cell Sequencing in Neurodegenerative Disorders

神经退行性疾病中的单细胞测序

Pozojevic, Jelena; Spielmann, Malte

Comparative single-cell analysis of the adult heart and coronary vasculature

成人心脏和冠状血管系统的单细胞比较分析

Balachandran, Saranya; Pozojevic, Jelena; Sreenivasan, Varun K A; Spielmann, Malte

Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing

利用纳米孔测序阐明TAF1中与X连锁肌张力障碍-帕金森病(XDP)相关的SVA逆转录转座子内的六核苷酸重复序列数量和甲基化情况

Lüth, Theresa; Laβ, Joshua; Schaake, Susen; Wohlers, Inken; Pozojevic, Jelena; Jamora, Roland Dominic G; Rosales, Raymond L; Brüggemann, Norbert; Saranza, Gerard; Diesta, Cid Czarina E; Schlüter, Kathleen; Tse, Ronnie; Reyes, Charles Jourdan; Brand, Max; Busch, Hauke; Klein, Christine; Westenberger, Ana; Trinh, Joanne