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Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants

结合染色体构象捕获和外显子组测序技术，同时检测结构变异和单核苷酸变异

Maria Gridina ，Timofey Lagunov ，Polina Belokopytova ，Nikita Torgunakov ，Miroslav Nuriddinov ，Artem Nurislamov ，Lyudmila P Nazarenko ，Anna A Kashevarova ，Maria E Lopatkina ，Stanislav Vasilyev ，Andrey Zuev ，Elena O Belyaeva ，Olga A Salyukova ，Aleksandr D Cheremnykh ，Natalia N Sukhanova ，Marina E Minzhenkova ，Zhanna G Markova ，Nina A Demina ，Yana Stepanchuk ，Anna Khabarova ，Alexandra Yan ，Emil Valeev ，Galina Koksharova ，Elena V Grigor'eva ，Natalia Kokh ，Tatiana Lukjanova ，Yulia Maximova ，Elizaveta Musatova ，Elena Shabanova ，Andrey Kechin ，Evgeniy Khrapov ，Uliana Boyarskih ，Oxana Ryzhkova ，Maria Suntsova ，Alina Matrosova ，Mikhail Karoli ，Andrey Manakhov ，Maxim Filipenko ，Evgeny Rogaev ，Nadezhda V Shilova ，Igor N Lebedev ，Veniamin Fishman

Sequencing

发表日期：2025

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Direction and modality of transcription changes caused by TAD boundary disruption in Slc29a3/Unc5b locus depends on tissue-specific epigenetic context

Slc29a3/Unc5b基因座中TAD边界破坏引起的转录变化的方向和方式取决于组织特异性的表观遗传背景。

期刊:Epigenetics & Chromatin

影响因子:3.5

doi:10.1186/s13072-025-00618-1

Salnikov, Paul; Belokopytova, Polina; Yan, Alexandra; Viesná, Emil; Korablev, Alexey; Serova, Irina; Lukyanchikova, Varvara; Stepanchuk, Yana; Torgunakov, Nikita; Tikhomirov, Savelii; Fishman, Veniamin

表观遗传

发表日期：2025

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Structural variants in the Epb41l4a locus: TAD disruption and Nrep gene misregulation as hypothetical drivers of neurodevelopmental outcomes

Epb41l4a基因座的结构变异：TAD破坏和Nrep基因失调可能是神经发育结果的潜在驱动因素

期刊:Scientific Reports

影响因子:3.9

doi:10.1038/s41598-024-52545-y

Salnikov, Paul; Korablev, Alexey; Serova, Irina; Belokopytova, Polina; Yan, Aleksandra; Stepanchuk, Yana; Tikhomirov, Savelii; Fishman, Veniamin

Dual-probe fluorescence spectroscopy for sensitive quantitation of Alzheimer's amyloid pathology

双探针荧光光谱法可灵敏定量阿尔茨海默病淀粉样蛋白病理

期刊:Acta Neuropathologica Communications

影响因子:6.2

doi:10.1186/s40478-022-01456-y

Anastasiia A Stepanchuk, Megan L Morgan, Jeffrey T Joseph, Peter K Stys

Assessing the significance of Palaeolithic engraved cortexes. A case study from the Mousterian site of Kiik-Koba, Crimea

评估旧石器时代雕刻皮层的重要性：以克里米亚基克-科巴莫斯特文化遗址为例

期刊:PLoS One

影响因子:2.6

doi:10.1371/journal.pone.0195049

Majkić, Ana; d'Errico, Francesco; Stepanchuk, Vadim

发表日期：2018

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A decorated raven bone from the Zaskalnaya VI (Kolosovskaya) Neanderthal site, Crimea

来自克里米亚 Zaskalnaya VI（Kolosovskaya）尼安德特人遗址的装饰乌鸦骨头

期刊:PLoS One

影响因子:2.6

doi:10.1371/journal.pone.0173435

Majkić, Ana; Evans, Sarah; Stepanchuk, Vadim; Tsvelykh, Alexander; d'Errico, Francesco

发表日期：2017

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Evidence for symbolic use of ochre by Micoquian Neanderthals in Crimea

克里米亚米科克文化尼安德特人使用赭石进行象征性使用的证据

Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants

结合染色体构象捕获和外显子组测序技术，同时检测结构变异和单核苷酸变异

Direction and modality of transcription changes caused by TAD boundary disruption in Slc29a3/Unc5b locus depends on tissue-specific epigenetic context

Slc29a3/Unc5b基因座中TAD边界破坏引起的转录变化的方向和方式取决于组织特异性的表观遗传背景。

Structural variants in the Epb41l4a locus: TAD disruption and Nrep gene misregulation as hypothetical drivers of neurodevelopmental outcomes

Epb41l4a基因座的结构变异：TAD破坏和Nrep基因失调可能是神经发育结果的潜在驱动因素

Dual-probe fluorescence spectroscopy for sensitive quantitation of Alzheimer's amyloid pathology

双探针荧光光谱法可灵敏定量阿尔茨海默病淀粉样蛋白病理

Assessing the significance of Palaeolithic engraved cortexes. A case study from the Mousterian site of Kiik-Koba, Crimea

评估旧石器时代雕刻皮层的重要性：以克里米亚基克-科巴莫斯特文化遗址为例

A decorated raven bone from the Zaskalnaya VI (Kolosovskaya) Neanderthal site, Crimea

来自克里米亚 Zaskalnaya VI（Kolosovskaya）尼安德特人遗址的装饰乌鸦骨头