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

Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients

RNU4ATAC相关剪接体病的表型谱:4例新病例及对既往报道患者的综合重新评估

Lovric, Svjetlana; Berking, Ann-Cathrine; Ringshausen, Felix C; Körholz, Julia; Porrmann, Joseph; Hütter, Sylvia; Bräsen, Jan H; di Donato, Nataliya; Schmidt-Ott, Kai M; Witte, Torsten; von Hardenberg, Sandra; Sogkas, Georgios

Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up

FAM111B相关皮肤异色症及表型谱扩展中的泛素-蛋白酶体系统失调:新病例报告和长期随访

Virginie Vignard,Mike Maillasson,Anne Bigot,Sébastien Küry,Thomas Besnard,Martin Broly,Aurélie Guého,Emmanuelle Com,Erica Davis,Wallid Deb,Laëtitia Florenceau,Karen Sobriel,Grégoire Ménard,Betty Gardie,Alice Goldenberg,Joseph Porrmann,Randal Richardson,Léa Ruffier,Smail Hadj-Rabia,Stéphane Bézieau,Sébastien Barbarot,Frédéric Ebstein,Sandra Mercier

Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC

长读长基因组和RNA测序解析了APC基因中致病性内含子生殖系LINE-1插入突变。

Alexandra A Baumann # ,Lisanne I Knol # ,Marie Arlt ,Tim Hutschenreiter ,Anja Richter ,Thomas J Widmann ,Marcus Franke ,Karl Hackmann ,Sylke Winkler ,Daniela Richter ,Isabel Spier ,Stefan Aretz ,Daniela Aust ,Joseph Porrmann ,Doreen William ,Evelin Schröck ,Hanno Glimm ,Arne Jahn

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

CNOT3相关神经发育障碍的综合分析:表型和基因型特征

Engel, Camille; Rendek, Michaela; Assoumani, Jessica; Argilli, Emanuela; Ariani, Francesca; Avice-Denizet, Anne-Laude; Bijlsma, Emilia K; Blanc, Pierre; Bruno, Lucia Pia; Callewaert, Bert; Capra, Valeria; Carullo, Michele; Chesneau, Bertrand; Coppens, Sandra; Curry, Cynthia; Dale, Breanne; Dahlen, Eric; Delahaye-Duriez, Andrée; Denommé-Pichon, Anne-Sophie; Demeer, Bénédicte; Dvořáková, Lenka; Fischer, Jan; Geneviève, David; Giacomini, Thea; Handrup, Mette M; Heron, Delphine; Hüning, Irina; Iacomino, Michelle; Isidor, Bertrand; Keren, Boris; Kmoch, Stanislav; Koolen, David A; Kübler, Andrea; Laštůvková, Jana; Le, Carolyn; Levy, Jonathan; Rizzo, Caterina Lo; Maitz, Silvia; Marlin, Sandrine; Mignot, Cyril; Mirzaa, Ghayda; Nagel, Inga; Neuens, Sebastian; Nosková, Lenka; Pao, Emily; Pecková, Anna; Plaisancie, Julie; Porrmann, Joseph; Privitera, Flavia; Reis, André; Renieri, Alessandra; Rio, Marlène; Rippert, Alyssa; Ryba, Lukáš; Scala, Marcello; Schieving, Jolanda H; Sherr, Elliott H; Shuen, Andrew; Sidlow, Richard; Smol, Thomas; Soblet, Julie; Striano, Pasquale; Suri, Mohnish; Syryn, Hannes; Tran Mau-Them, Frédéric; Travessa, Andre M; Van Gils, Julien; Vasileiou, Georgia; Verseput, Jolijn J A; Vilain, Catheline; Vincent-Delorme, Catherine; Vyhnálková, Emílie; Wakeling, Emma L; Zacher, Pia; Zara, Federico; Kuentz, Paul; Piard, Juliette

Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature

通过确定表观遗传特征,验证 CDK13 中的低活性变异是常染色体隐性遗传 CHDFIDD 的病因

Fischer, Jan; Alders, Mariëlle; Mannens, Marcel M A M; Genevieve, David; Hackmann, Karl; Schröck, Evelin; Sadikovic, Bekim; Porrmann, Joseph

Mobile Ground-Truth 3D Detection Environment for Agricultural Robot Field Testing

用于农业机器人田间测试的移动式地面实况三维检测环境

Barrelmeyer, Daniel; Stiene, Stefan; Jose, Jannik; Porrmann, Mario

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype

进一步阐明 AUTS2 HX 重复结构域相关表型

Erdogan, Esin Nur; Cheng, Chi Vicky; Caraffi, Stefano G; Ivanovski, Ivan; Piatelli, Gianluca; Errichiello, Edoardo; Papavasiliou, Antigone S; Vasileiou, Georgia; Reis, André; Prince, Bradley; Hickey, Scott E; Koboldt, Daniel C; Schneider, Michael C; Porrmann, Joseph; Di Donato, Nataliya; Leis, Thomas; Perry, M Scott; Humberson, Jennifer; Rotenberg, Joshua; Bakhtiari, Somayeh; Magee, Helen; Kheradmand, Shaydah; Kruer, Michael C; Swale, Andrew; Weber, Astrid; Landes, Caren; Zuffardi, Orsetta; Garavelli, Livia; van Haeringen, Arie; Ruivenkamp, Claudia A L; Pauly, Melissa; Au, Ping Yee Billie; Dobyns, William B; Aldinger, Kimberly A

17.6% of patients in a German cohort with exocrine pancreatic cancer were diagnosed with a genetic tumor syndrome-a case for universal genetic testing?

德国一项针对外分泌性胰腺癌患者的研究发现,17.6% 的患者被诊断患有遗传性肿瘤综合征——这是否意味着需要进行普遍的基因检测?

William, D; Bermúdez, M; Kübler, A; Kahlert, C; Distler, M; Weitz, J; Uhrig, S; Fröhlich, M; Hutter, B; Aust, D; Baretton, G; Wimberger, P; Kast, K; Meisel, C; Gieldon, L; Porrmann, J; Wagner, J; Arlt, M; Franke, M; Fischer, J; Hackmann, K; Kreutzfeldt, S; Mock, A; Heilig, C E; Lipka, D B; Teleanu, M-V; Schlenk, R F; Brors, B; Hübschmann, D; Paramasivam, N; Richter, D; Beck, K; Pfütze, K; Buchhalter, I; Weichert, W; Herold, T; Spiekermann, K; Jost, P J; Keilholz, U; Klauschen, F; Bauer, S; Siveke, J T; Kindler, T; Boerries, M; Illert, A L; Bitzer, M; Schulze-Osthoff, K; Schirmacher, P; Stenzinger, A; Horak, P; Heining, C; Folprecht, G; Fröhling, S; Glimm, H; Schröck, E; Jahn, A

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

扩大 FINCA 综合征的表型和分子谱:15 名新个体中的双等位基因 NHLRC2 变异

Henrike L Sczakiel, Max Zhao, Brigitte Wollert-Wulf, Magdalena Danyel, Nadja Ehmke, Corinna Stoltenburg, Nadirah Damseh, Motee Al-Ashhab, Tugce B Balci, Matthew Osmond, Andrea Andrade, Jens Schallner, Joseph Porrmann, Kimberly McDonald, Mingjuan Liao, Henry Oppermann, Konrad Platzer, Nadine Dierksen

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea

KCNK3基因的功能获得性突变会导致一种伴有睡眠呼吸暂停的发育障碍

Sörmann, Janina; Schewe, Marcus; Proks, Peter; Jouen-Tachoire, Thibault; Rao, Shanlin; Riel, Elena B; Agre, Katherine E; Begtrup, Amber; Dean, John; Descartes, Maria; Fischer, Jan; Gardham, Alice; Lahner, Carrie; Mark, Paul R; Muppidi, Srikanth; Pichurin, Pavel N; Porrmann, Joseph; Schallner, Jens; Smith, Kirstin; Straub, Volker; Vasudevan, Pradeep; Willaert, Rebecca; Carpenter, Elisabeth P; Rödström, Karin E J; Hahn, Michael G; Müller, Thomas; Baukrowitz, Thomas; Hurles, Matthew E; Wright, Caroline F; Tucker, Stephen J