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

Spectral Tuning of Hyperbolic Shear Polaritons in Monoclinic Gallium Oxide via Isotopic Substitution

通过同位素取代对单斜氧化镓中双曲剪切极化子的光谱进行调谐

Carini, Giulia; Pradhan, Mohit; Gelžinytė, Elena; Ardenghi, Andrea; Dixit, Saurabh; Obst, Maximilian; Senarath, Aditha S; Mueller, Niclas S; Álvarez-Pérez, Gonzalo; Diaz-Granados, Katja; Kowalski, Ryan A; Niemann, Richarda; Kaps, Felix G; Wetzel, Jakob; Iyer, Raghunandan Balasubramanyam; Mazzolini, Piero; Schubert, Mathias; Klopf, J Michael; Margraf, Johannes T; Bierwagen, Oliver; Wolf, Martin; Reuter, Karsten; Eng, Lukas M; Kehr, Susanne C; Caldwell, Joshua D; Carbogno, Christian; Folland, Thomas G; Wagner, Markus R; Paarmann, Alexander

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants

对疑似患有遗传性癌症的未确诊欧洲患者进行基因组测序:诊断率和候选致病变异的鉴定

Martins, Nelson; Terradas, Mariona; Garcia-Pelaez, José; Sommer, Anna K; Demidov, German; Matalonga, Leslie; Ramos-Muntada, Mireia; Te Paske, Iris B A W; Spier, Isabel; Mensenkamp, Arjen; Schuurs-Hoeijmakers, Janneke; Gullo, Irene; São José, Celina; Pedro, Ana Maria; Gouveia Silva, Raquel; Sousa, Ana Berta; Amoroso Canão, Pedro; Fernandes, Susana; Garrido, Luzia; Dupont, Juliette; Maia, Sofia; Sousa, Gabriela; Irmejs, Arvids; Barili, Valeria; Blatnik, Ana; Rofes, Paula; Brunet, Joan; Capellá, Gabriel; Laurie, Steven; Lázaro, Conxi; Hoogerbrugge, Nicoline; de Voer, Richarda M; Aretz, Stefan; Oliveira, Carla; Valle, Laura

Assessing the Detection Power of Genome-Wide Copy Number Variation Profiles in Prostate Cancer Using Simulated Shallow Whole-Genome Sequencing Data

利用模拟浅层全基因组测序数据评估全基因组拷贝数变异谱在前列腺癌中的检测能力

Pamidimarri Naga, Samhita; Slootbeek, Peter H J; Tolmeijer, Sofie H; Gillissen, Christian; Ligtenberg, Marjolijn J L; Mehra, Niven; de Voer, Richarda M

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

出版商更正:对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

Ultraconfined terahertz phonon polaritons in hafnium dichalcogenides

二硫化铪中的超限太赫兹声子极化子

Kowalski, Ryan A; Mueller, Niclas S; Álvarez-Pérez, Gonzalo; Obst, Maximilian; Diaz-Granados, Katja; Carini, Giulia; Senarath, Aditha; Dixit, Saurabh; Niemann, Richarda; Iyer, Raghunandan B; Kaps, Felix G; Wetzel, Jakob; Klopf, J Michael; Kravchenko, Ivan I; Wolf, Martin; Folland, Thomas G; Eng, Lukas M; Kehr, Susanne C; Alonso-Gonzalez, Pablo; Paarmann, Alexander; Caldwell, Joshua D

Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency.

揭示影响先天性错配修复缺陷个体肿瘤突变模式的诱变过程

Weijers Dilys D, Hinić Snežana, Kroeze Emma, Gorris Mark Aj, Schreibelt Gerty, Middelkamp Sjors, Mensenkamp Arjen R, Bladergroen Reno, Verrijp Kiek, Hoogerbrugge Nicoline, Wesseling Pieter, van der Post Rachel S, Loeffen Jan Lc, Gidding Corrie Em, van Kouwen Mariëtte Ca, de Vries I Jolanda M, van Boxtel Ruben, de Voer Richarda M, Jongmans Marjolijn Cj, Kuiper Roland P

Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes

基于外显子组的癌症易感基因检测可以为具有异质性肿瘤表型的个体提供基因诊断。

Hinić, Snežana; Mensenkamp, Arjen R; Schuurs-Hoeijmakers, Janneke H M; Brugnoletti, Fulvia; Vreede, Lilian; van Veen, Elke M; Mijzen, Barend; van der Post, Rachel S; Genuardi, Maurizio; Ligtenberg, Marjolijn J L; Hoogerbrugge, Nicoline; de Voer, Richarda M

Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9

与MCM8和MCM9基因双等位基因种系变异相关的临床综合征

Helderman, Noah C; Yang, Ting; Palles, Claire; Terlouw, Diantha; Mei, Hailiang; Vorderman, Ruben H P; Cats, Davy; Díaz-Gay, Marcos; Jongmans, Marjolijn C J; Ramdien, Ashwin; van de Beek, Irma; Eleveld, Thomas F; Green, Andrew; Hes, Frederik J; van den Heuvel-Eibrink, Marry M; Van Der Kelen, Annelore; Kliesch, Sabine; Kuiper, Roland P; Lakeman, Inge M M; Lashley, Lisa E E L O; Looijenga, Leendert H J; Oud, Manon S; Steingröver, Johanna; Tenenbaum-Rakover, Yardena; Tops, Carli M; Tüttelmann, Frank; de Voer, Richarda M; Westra, Dineke; Wyrwoll, Margot J; Golubicki, Mariano; Antelo, Marina; Bonjoch, Laia; Terradas, Mariona; Valle, Laura; Alexandrov, Ludmil B; Morreau, Hans; van Wezel, Tom; Castellví-Bel, Sergi; Goldberg, Yael; Nielsen, Maartje

Tumour spectrum, distinguishing features and management recommendations for NTHL1-associated tumour syndrome: a systematic review

NTHL1相关肿瘤综合征的肿瘤谱、鉴别特征及治疗建议:系统评价

Gao, Weilun; Liao, Chuyi; Buchanan, Daniel D; Macrae, Finlay; de Voer, Richarda M