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

Studies on intellectual disability identify variants in established genes as well as confirm candidature of new genes

智力障碍研究不仅发现了已知基因的变异,还证实了新基因的候选资格。

Butt, Amina Iftikhar; Bazai, Fariya Khan; Kakar, Kaleemullah; Daud, Shakeela; Seo, Go Hun; Ahmad, Jamil; Naz, Sadaf

Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families

巴基斯坦近亲结婚家庭中隐性遗传性共济失调和神经病变的分子特征分析

Aslam, Faiza; Wajid, Muhammad; Butt, Amina Iftikhar; Wohler, Elizabeth; Seo, Go Hun; Ji, Weizhen; Lakhani, Saquib A; Sobreira, Nara; Naz, Sadaf

Homozygous FDXR variant in twin sisters with spastic paraparesis followed by acute progressive flaccid quadriparesis

双胞胎姐妹中发现纯合FDXR变异体,表现为痉挛性截瘫,随后出现急性进行性弛缓性四肢瘫痪

Tafakhori, Abbas; Sarvestani, Zahra; Kariminejad, Ariana; Tajsharghi, Homa; Seo, Go Hun; Ryu, Seung Woo; Heydari Havadaragh, Sanaz

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

一种进行性RBL2相关神经发育障碍的临床和遗传特征

Aughey, Gabriel N; Cali, Elisa; Maroofian, Reza; Zaki, Maha S; Pagnamenta, Alistair T; Ali, Zafar; Abdulllah, Uzma; Rahman, Fatima; Menzies, Lara; Shafique, Anum; Suri, Mohnish; Roze, Emmanuel; Aguennouz, Mohammed; Ghizlane, Zouiri; Saadi, Saadia Maryam; Fatima, Ambrin; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Morel, Godelieve; Robin, Stephanie; McFarland, Robert; Altunoglu, Umut; Kraus, Verena; Shoukier, Moneef; Murphy, David; Flemming, Kristina; Yttervik, Hilde; Rhouda, Hajar; Lesca, Gaetan; Chatron, Nicolas; Rossi, Massimiliano; Murtaza, Bibi Nazia; Ur Rehman, Mujaddad; Lord, Jenny; Giacopuzzi, Edoardo; Hayat, Azam; Siraj, Muhammad; Shervin Badv, Reza; Seo, Go Hun; Beetz, Christian; Kayserili, Hülya; Krioulie, Yamna; Chung, Wendy K; Naz, Sadaf; Maqbool, Shazia; Chandler, Kate E; Kershaw, Christopher J; Wright, Thomas; Banka, Siddharth; Gleeson, Joseph G; Taylor, Jenny C; Efthymiou, Stephanie; Baig, Shahid Mahmood; Severino, Mariasavina; Jepson, James E C; Houlden, Henry

Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study

罕见病基因组测序多学科流程的临床应用:一项前瞻性、多中心、观察性队列研究

Hwang, Soojin; Seo, Go Hun; Choi, In Hee; Ryue, Seung-Woo; Oh, Ji Young; Kim, Yoo-Mi; Eun, Baik-Lin; Byeon, Jung Hye; Kang, Eugu; Kim, Myungshin; Kim, Hoon Seok; Lee, Soyoung; Kim, Han Wool; Kim, Dohyung; Khang, Rin; Kim, Jihye; Moon, Dongseok; Jang, Seokhui; Song, Yongjun; Kim, Gu-Hwan; Kim, Kyoung Bo; Park, Jun Hong; Yang, Seo Yeon; Choi, Yoo Kyoung; Ji, Su Min; Kim, Oc-Hee; Park, Mi-Hyun; Park, Hyun-Young; Lee, Beom Hee

Novel SYK Variant Causes Enhanced SYK Autophosphorylation and PI3K Activation in an Antibody-Deficient Patient

新型SYK变异导致抗体缺陷患者体内SYK自磷酸化增强和PI3K激活增强

Edwards, Emily S J; Chatelier, Josh; Snell, Gregory I; Seo, Go Hun; Khang, Rin; O'Hehir, Robyn E; Bosco, Julian J; van Zelm, Menno C

First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2

首例拉丁美洲MLASA2病例,由YARS2反密码子结合域的致病变异引起

Villafán-Bernal, José Rafael; Rosas-Hernández, Jhonatan; García-Ortiz, Humberto; Martínez-Hernández, Angélica; Contreras-Cubas, Cecilia; Guerrero-Contreras, Israel; Lee, Hane; Seo, Go Hun; Carnevale, Alessandra; Barajas-Olmos, Francisco; Orozco, Lorena

Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders

对 18,994 名疑似患有罕见孟德尔遗传病的、来自不同种族的患者进行了外显子组测序。

Han, Heonjong; Seo, Go Hun; Hyun, Seong-In; Kwon, Kisang; Ryu, Seung Woo; Khang, Rin; Lee, Eugene; Kim, JiHye; Song, Yongjun; Jeong, Won Chan; Han, Joohyun; Kim, Dong-Wook; Yang, Soyeon; Lee, Sohyun; Jang, Sohyun; Lee, Jungsul; Lee, Hane

Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families

基因组测序在罕见病中的临床应用:一项纳入1452个韩国家庭的单中心研究的启示

Lee, Seungbok; Seo, Go Hun; Kim, Soo Yeon; Jang, Se Song; Jang, Seoyun; Choi, Songji; Chin, Hyungjin; Lee, Seung Jae; Oh, Dong Eon; Ryu, Seung Woo; Kim, Jihye; Moon, Dongseok; Jang, Seokhui; Lim, Byung Chan; Moon, Jangsup; Han, Heonjong; Lee, Hane; Chae, Jong-Hee

ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches

ELMO2相关骨内血管畸形:新病例及其新的致病变异、临床随访和治疗方法

Karakaya, Mert; Ragab, Iman; Riehmer, Vera; Erger, Florian; Aly, Nihal Hussien; Ryu, Seung Woo; Seo, Go Hun; Hoemberg, Marc; Schultheis, Anne Maria; Netzer, Christian; Decarolis, Boris