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

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort

SCA27B的临床、遗传和影像学特征:来自荷兰大型队列研究的启示

van Prooije, Teije H; Pennings, Maartje; Maas, Roderick P P W M; de Vries, Jeroen; Verschuuren-Bemelmans, Corien; Odekerken, Vincent; Darweesh, Sirwan K L; Huisman, Mark; Oosterloo, Mayke; Buijink, Arthur; van de Wardt, Jaron; Vanhoutte, Els; Wong, Tsz Hang; Koens, Lisette; de Boer, Eva; van Gaalen, Judith; Beudel, Martijn; Roos, Dareia S; Hoff, Jorrit I; Cornelissen, Thimo; Schouten, Meyke; Gardeichik, Thatjana; van der Looij, Erica; Klein, Christine; Trinh, Joanne; Kamsteeg, Erik-Jan; van de Warrenburg, Bart

Spatial Analysis of Intraductal Papillary Mucinous Neoplasms Defines a Paradoxical Keratin 17-positive, Low-grade Epithelial Population Harboring Malignant Features

导管内乳头状黏液性肿瘤的空间分析揭示了一种矛盾的角蛋白17阳性、低级别上皮细胞群,该细胞群具有恶性特征。

Li, Jay; Branch, Georgina; Macchia, Justin; Elhossiny, Ahmed M; Arya, Nandini; Liang, Julia; Kadiyala, Padma; Peterson, Nicole; Kwon, Richard; Machicado, Jorge D; Wamsteker, Erik-Jan; Schulman, Allison; Philips, George; Menees, Stacy; Xia, Jonathan; Singhi, Aatur D; Sahai, Vaibhav; Fang, Jiayun M; Frankel, Timothy L; Bednar, Filip; Pasca di Magliano, Marina; Shi, Jiaqi; Carpenter, Eileen S

Autosomal Dominant FTH1 Variant Causing Pontocerebellar Hypoplasia and Late-Onset Neuroferritinopathy: A Case Report

常染色体显性遗传FTH1变异导致脑桥小脑发育不全和迟发性神经铁蛋白病:病例报告

Hebbink, Jasmijn Annemiek; Niermeijer, Jikke-Mien F; Vroegindeweij, Elene; de Vries, Bert B A; Pegge, Sjoert; Kamsteeg, Erik-Jan; Willemsen, Michel A A P

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

The expanding clinical and genetic spectrum of DYNC1H1-related disorders

DYNC1H1相关疾病的临床和遗传谱不断扩大

Möller, Birk; Becker, Lena-Luise; Saffari, Afshin; Afenjar, Alexandra; Coci, Emanuele G; Williamson, Rachel; Ward-Melver, Catherine; Gibaud, Marc; Sedláčková, Lucie; Laššuthová, Petra; Libá, Zuzana; Vlčková, Markéta; William, Nancy; Klee, Eric W; Gavrilova, Ralitza H; Lévy, Jonathan; Capri, Yline; Scavina, Mena; Körner, Robert Walter; Valivullah, Zaheer; Weiß, Claudia; Möller, Greta Marit; Frazier, Zoë; Roberts, Amy; Gener, Blanca; Scala, Marcello; Striano, Pasquale; Zara, Federico; Thiel, Moritz; Sinnema, Margje; Kamsteeg, Erik-Jan; Donkervoort, Sandra; Duboc, Veronique; Zaafrane-Khachnaoui, Khaoula; Elkhateeb, Nour; Selim, Laila; Margot, Henri; Marin, Victor; Beneteau, Claire; Isidor, Bertrand; Cogne, Benjamin; Keren, Boris; Küsters, Benno; Beggs, Alan H; Sveden, Abigail; Chopra, Maya; Genetti, Casie A; Nicolai, Joost; Dötsch, Jörg; Koy, Anne; Bönnemann, Carsten G; von der Hagen, Maja; von Kleist-Retzow, Jürgen-Christoph; Voermans, Nicol C; Jungbluth, Heinz; Dafsari, Hormos Salimi

Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle

显性横纹肌溶解症与复发性 ATP2A2 变异体有关,该变异体可降低肌肉中 SERCA2 的功能。

Malaichamy, Sivasankar; Idoux, Romane; Polavarapu, Kiran; Šikić, Katarina; Holla, Elisa; Thompson, Rachel; Spendiff, Sally; Schänzer, Anne; Küsters, Benno; Freeman, Emily; Hentschel, Andreas; O'Neil, Daniel; Carmona-Martinez, Ricardo; Dobelmann, Vera; Tucht, Calvin; Schouten, Meyke; Ruck, Tobias; Schara-Schmidt, Ulrike; Kamsteeg, Erik-Jan; Ramadža, Danijela Petković; Jakovčević, Antonia; Žigman, Tamara; Čavka, Mislav; Karcagi, Veronika; Herczegfalvi, Agnes; Laurie, Steven; Matalonga, Leslie; Beltran, Sergi; Horvath, Rita; Voermans, Nicol; Roos, Andreas; Barić, Ivo; Lochmüller, Hanns

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

DNA结合亲和力和特异性决定了BCL11B相关疾病的表型多样性

Lessel, Ivana; Baresic, Anja; Chinn, Ivan K; May, Jonathan; Goenka, Anu; Chandler, Kate E; Posey, Jennifer E; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K; Gangi, Silvana; George-Abraham, Jaya K; Gucsavas-Calikoglu, Muge; Haack, Tobias B; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J; Jorge, Alexander A L; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M; Leppälä, Juha; Luu, Sharon M; Lyon, Gholson J; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K G; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R; Tolosa, Eva; Lessel, Davor

Automated detection of interictal epileptiform discharges with few electroencephalographic channels

利用少量脑电图通道自动检测发作间期癫痫样放电

Alkofer, Moritz; Yang, Chaoqi; Ganglberger, Wolfgang; Beal, Jules; Hegde, Manu; Kang, Joon-Yi; Yoo, Ji Yeoun; Gelfand, Michael A; Thio, Liu Lin; Kutluay, Ekrem; Campbell, Zeke; Schmitt, Sarah; Gleichgerrcht, Ezequiel; Waterhouse, Elizabeth; Lopez, Maria R; Eisenschenk, Stephan; Galanti, Mattia; Singh, Rani K; Wills, Kristin E; Meulenbrugge, Erik-Jan; Dlugos, Dennis; Dean, Brian; Halford, Jonathan J; Goldenholz, Daniel; Jing, Jin; Thomas, Robert; Westover, M Brandon

Multisample motif discovery and visualization for tandem repeats

串联重复序列的多样本基序发现和可视化

Zhang, Yaran; Hulsman, Marc; Salazar, Alex; Tesi, Niccolò; Knoop, Lydian; van der Lee, Sven; Wijesekera, Sanduni; Krizova, Jana; Kamsteeg, Erik-Jan; Holstege, Henne

Optical genome mapping enables accurate testing of large repeat expansions

光学基因组图谱能够对大片段重复序列扩增进行精确检测

van der Sanden, Bart; Neveling, Kornelia; Shukor, Syukri; Gallagher, Michael D; Lee, Joyce; Burke, Stephanie L; Pennings, Maartje; van Beek, Ronald; Oorsprong, Michiel; Kater-Baats, Ellen; Kamping, Eveline; Tieleman, Alide A; Voermans, Nicol C; Scheffer, Ingrid E; Gecz, Jozef; Corbett, Mark A; Vissers, Lisenka E L M; Pang, Andy Wing Chun; Hastie, Alex; Kamsteeg, Erik-Jan; Hoischen, Alexander