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

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans

CELSR1基因的双等位基因变异会导致人类脑畸形、神经发育障碍和癫痫。

Bonardi, Claudia M; Møller, Rikke S; Ruiz-Reig, Nuria; Chai, Guoliang; Madsen, Camilla G; Bayat, Allan; Hammer, Trine B; Fenger, Christina D; Gardella, Elena; Gawlinski, Pawel; Dawidziuk, Mateusz; Wiszniewski, Wojciech; Bekiesinska-Figatowska, Monika; Cabet, Sara; Rossi, Massimiliano; Lesca, Gaetan; Gouy, Evan; Jepsen, Birgit; Mieszczanek, Tomasz S; Sanchez Russo, Rossana; Barr, Eileen E; Õunap, Katrin; Ilves, Pilvi; Wojcik, Monica H; Aittaleb, Mohamed; Brusgaard, Klaus; Tissir, Fadel; Rubboli, Guido

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders

神经元黏附分子星形胶质细胞1基因(ASTN1)的双等位基因变异会导致多种神经发育障碍

Levine, Jesse M; Calame, Daniel G; Sangermano, Riccardo; Du, Haowei; Saad, Ahmed; Lisfeld, Jasmin; Bierhals, Tatjana; Denecke, Jonas; Uctepe, Eyyup; Celik, Merve Yoldas; Yesilyurt, Ahmet; Yildiz Er, Hilal; Yilmaz Gulec, Elif; Mushiba, Aziza; Almontashiri, Naif; Gawlinski, Pawel; Wiszniewski, Wojciech; Karaca, Ender; Alabdi, Lama; Pehlivan, Davut; Marafi, Dana; Zaki, Maha S; Alkuraya, Fowzan S; Gleeson, Joseph G; Jhangiani, Shalini N; Gibbs, Richard A; Posey, Jennifer E; Bujakowska, Kinga M; Lupski, James R

High Salt Intake Affects Visceral Adipose Tissue Homeostasis: Beneficial Effects of GLP-1 Agonists

高盐摄入影响内脏脂肪组织稳态:GLP-1受体激动剂的有益作用

Touceda, Vanessa; Cacciagiú, Leonardo; Moglie, Ignacio Barbani; Wiszniewski, Morena; Sanchez, Valeria; De Lucca, Romina C; Vidal, Agustina; Finocchietto, Paola; Friedman, Silvia; González, Germán E; Miksztowicz, Verónica

Divergent Hepatic and Adipose Tissue Effects of Kupffer Cell Depletion in a Male Rat Model of Metabolic-Associated Steatohepatitis.

代谢相关性脂肪性肝炎雄性大鼠模型中库普弗细胞耗竭对肝脏和脂肪组织的影响存在差异

Wiszniewski Morena, Mori Diego, Sanchez Puch Silvia I, Martinez Calejman Camila, Cymeryng Cora B, Repetto Esteban M

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

CSMD1 中的双等位基因变异与一种神经发育障碍有关,该障碍会导致智力障碍和各种皮质畸形

Elizabeth A Werren, Emily R Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Pawel Gawlinski, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, K L I van Gassen, Jacques C Giltay, Re

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

CSMD1基因的双等位基因变异与一种神经发育障碍有关,该障碍伴有智力障碍和不同程度的皮质畸形。

Elizabeth A Werren,Emily R Peirent,Henna Jantti,Alba Guxholli,Kinshuk Raj Srivastava,Naama Orenstein,Vinodh Narayanan,Wojciech Wiszniewski,Mateusz Dawidziuk,Pawel Gawlinski,Muhammad Umair,Amjad Khan,Shahid Niaz Khan,David Geneviève,Daphné Lehalle,K L I van Gassen,Jacques C Giltay,Renske Oegema,Richard H van Jaarsveld,Rafiullah Rafiullah,Gudrun A Rappold,Rachel Rabin,John G Pappas,Marsha M Wheeler,Michael J Bamshad,Yao-Chang Tsan,Matthew B Johnson,Catherine E Keegan,Anshika Srivastava #,Stephanie L Bielas #

Practice Patterns and Barriers to Vascular Genetic Testing Among Vascular Surgeons

血管外科医生血管基因检测的实践模式和障碍

Dittman, James M; Prakash, Siddharth K; Gupta, Prem Chand; Wiszniewski, Wojciech; Singh, Niten; Smeds, Matthew R; Shalhub, Sherene

Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism

先天性辅酶Q5相关疾病:致病基因关联、核心表型和分子机制

Dawidziuk, Mateusz; Podwysocka, Aleksandra; Jurek, Marta; Obersztyn, Ewa; Bekiesinska-Figatowska, Monika; Goszczanska-Ciuchta, Alicja; Bukowska-Olech, Ewelina; Rygiel, Agnieszka Magdalena; Guilbride, Dorothy Lys; Wiszniewski, Wojciech; Gawlinski, Pawel

A. thaliana Hybrids Develop Growth Abnormalities through Integration of Stress, Hormone and Growth Signaling

拟南芥杂交种通过整合压力、激素和生长信号导致生长异常

Katelyn Sageman-Furnas, Markus Nurmi, Meike Contag, Björn Plötner, Saleh Alseekh, Andrew Wiszniewski, Alisdair R Fernie, Lisa M Smith, Roosa A E Laitinen

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

外显子组测序揭示了新的变异,并扩展了先天性小头畸形的遗传图谱

Dawidziuk, Mateusz; Gambin, Tomasz; Bukowska-Olech, Ewelina; Antczak-Marach, Dorota; Badura-Stronka, Magdalena; Buda, Piotr; Budzynska, Edyta; Castaneda, Jennifer; Chilarska, Tatiana; Czyzyk, Elzbieta; Eckersdorf-Mastalerz, Anna; Fijak-Moskal, Jolanta; Gieruszczak-Bialek, Dorota; Glodek-Brzozowska, Ewelina; Goszczanska-Ciuchta, Alicja; Grzeszykowska-Podymniak, Malgorzata; Gurda, Barbara; Jakubiuk-Tomaszuk, Anna; Jamroz, Ewa; Janeczko, Magdalena; Jedlińska-Pijanowska, Dominika; Jurek, Marta; Karolewska, Dagmara; Kazmierczak, Adela; Kleist, Teresa; Kochanowska, Iwona; Krajewska-Walasek, Malgorzata; Kufel, Katarzyna; Kutkowska-Kaźmierczak, Anna; Lipiec, Agata; Maksym-Gasiorek, Dorota; Materna-Kiryluk, Anna; Mazurkiewicz, Hanna; Milewski, Michał; Pavina-Guglas, Tatsiana; Pietrzyk, Aleksandra; Posmyk, Renata; Pyrkosz, Antoni; Rudzka-Dybala, Mariola; Slezak, Ryszard; Wisniewska, Marzena; Zalewska-Miszkurka, Zofia; Szczepanik, Elzbieta; Obersztyn, Ewa; Bekiesinska-Figatowska, Monika; Gawlinski, Pawel; Wiszniewski, Wojciech