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H

Hane Lee

Zahedan University of Medical Sciences

56H指数
234论文数
1.3W被引数
收录论文 91
发表时间
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De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorderPCBP1基因中的全新变异导致神经发育障碍
errMolecular Psychiatry
IF10.1
err2026-09-16
err0
PREAI
errWallid Deb; Thomas Besnard; Florence Desprez; Benjamin Cogné; Laura Do Souto Ferreira; Virginie Vignard; Sylviane Marouillat; Louis Januel; Svetlana Gorokhova; Tiffany Busa; Victor Morel; Benjamin Dauriat; Vincent Des Portes; Eyyüp Üçtepe; Özlem Akgün Doğan; Ahmet Yeşilyurt; Yasemin Alanay; Anne M. Slavotinek; Yu An; Hane Lee; Jessy Hary; Peter Kannu; Taryn B. Athey; Ingrid M. B. H. van de Laar; Marjon A. van Slegtenhorst; Patricia Dickson; Rachel Slaugh; Fadi F. Hamdan; Jean-François Soucy; Jacques L. Michaud; Alison M. Muir; Rebecca Buchert; Tobias B. Haack; Dominic Imort; Sérgio B. Sousa; Belinda Campos-Xavier; Pedro M. Almeida; Borut Peterlin; Sophie Kaspar; Christian Netzer; Hans Zempel; Meghan C. Towne; Roger L. Ladda; Susan L. Sell; Lina Quteineh; Romane Meurs; Stylianos E. Antonarakis; Pawel Gawlinski; Xiaofei Song; Wojciech Wiszniewski; Daniel G. Calame; Jennifer E. Posey; Frederic Ebstein; James R. Lupski; Bertrand Isidor; Stéphane Bézieau; Frédéric Laumonnier; Sébastien Küry
err分享
err收藏
A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case Report在伊朗家庭中导致轻度1型科恩格尔德-兰格综合征的一种新生起始丢失变异：病例报告
errJournal of Medical Case Reports
IF0.8
err2026-05-02
err0
PREAI
errMir, Atefeh; Abbasi, Zahra; Song, Yongjun; Lee, Hane; Khajeh, Ali; Jahantigh, Mojdeh; Hajigholami, Samira; Khedri, Shadi; Tabatabaiefar, Mohammad-Amin
err分享
err收藏
Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children全外显子组测序揭示希腊儿童先天性肾实质异常相关的高潜力基因
errChildren-Basel
IF2.1
err2026-05-01
err0
PREAI
errZisi, Anna; Kostoulas, Charilaos; Sesse, Athanasia; Kosmeri, Chrysoula; Serbis, Anastasios; Lee, Hane; Georgiou, Ioannis; Siomou, Ekaterini
err分享
err收藏
First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2首例由YARS2基因反密码子结合域致病性变异引起的拉丁美洲MLASA2病例
errInternational Journal of Molecular Sciences 2025, Vol. 26, Page 12039
IF4.9
err2025-12-14
err0
errOAAI
errJosé Rafael Villafán-Bernal; Jhonatan Rosas-Hernández; Humberto García-Ortiz; Angélica Martínez-Hernández; Cecilia Contreras-Cubas; Israel Guerrero-Contreras; Hane Lee; Go Hun Seo; Alessandra Carnevale; Francisco Barajas-Olmos; Lorena Orozco
err分享
err收藏
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价值：一项1452个韩国家庭单中心研究的启示
errnpj Genomic Medicine
IF4.8
err2025-12-08
err0
errOAAI
errSeungbok Lee; Go Hun Seo; Soo Yeon Kim; Se Song Jang; Seoyun Jang; Songji Choi; Hyungjin Chin; Seung Jae Lee; Dong Eon Oh; Seung Woo Ryu; Jihye Kim; Dongseok Moon; Seokhui Jang; Byung Chan Lim; Jangsup Moon; Heonjong Han; Hane Lee; Jong-Hee Chae
err分享
err收藏
Corneal Myofibromatous and Pterygium-Like Changes in a Family With a PDGFRB Variant携带PDGFRB变异的一个家庭中的角膜肌成纤维细胞样和翼状胬肉样改变
errCORNEA
IF2.1
err2025-10-01
err1
PREAI
errRaber, Irving M.; Khalili, Ashley; Khang, Rin; Buch, Preema M.; Eagle Jr, Ralph C.; Seo, Go Hun; Lee, Hane; Milman, Tatyana
err分享
err收藏
Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia双亲遗传和雄性遗传性体细胞嵌合体伴有非综合征性重症新生儿高胰岛素血症的表现
errInternational Journal of Molecular Sciences 2025, Vol. 26, Page 7985
IF4.9
err2025-08-20
err0
PREAI
errMiguel Angel Alcántara-Ortigoza; Marcela Vela-Amieva; Ariadna González-del Angel; Miriam Erandi Reyna-Fabián; Liliana Fernández-Hernández; Bernardette Estandía-Ortega; Sara Guillén-López; Lizbeth López-Mejía; Isabel Ibarra-González; María de la Luz Ruiz-Reyes; Raúl Calzada-de León; Mauricio Rojas-Maruri; Flora Zárate-Mondragón; Go Hun-Seo; Hane Lee
err分享
err收藏
A programmed decline in ribosome levels governs human early neurodevelopment程序性核糖体水平下降调控人类早期神经发育
errNature Cell Biology
IF19.1
err2025-08-04
err0
errOAAI
errChunyang Ni; Yudong Wei; Barbara Vona; Dayea Park; Yulei Wei; Daniel A. Schmitz; Yi Ding; Masahiro Sakurai; Emily Ballard; Leijie Li; Yan Liu; Ashwani Kumar; Chao Xing; Shenlu Qin; Sangin Kim; Martina Foglizzo; Jianchao Zhao; Hyung-Goo Kim; Cumhur Ekmekci; Ehsan Ghayoor Karimiani; Shima Imannezhad; Fatemeh Eghbal; Reza Shervin Badv; Eva Maria Christina Schwaibold; Mohammadreza Dehghani; Mohammad Yahya Vahidi Mehrjardi; Zahra Metanat; Hosein Eslamiyeh; Ebtissal Khouj; Saleh Mohammed Nasser Alhajj; Aziza Chedrawi; Khushnooda Ramzan; Jamil A. Hashmi; Majed M. Alluqmani; Sulman Basit; Danai Veltra; Nikolaos M. Marinakis; Georgios Niotakis; Pelagia Vorgia; Christalena Sofocleous; Hane Lee; Won Chan Jeong; Muhammad Umair; Muhammad Bilal; César Augusto Pinheiro Ferreira Alves; Matthew Sieber; Michael Kruer; Henry Houlden; Fowzan S. Alkuraya; Elton Zeqiraj; Roger A. Greenberg; Can Cenik; Leqian Yu; Reza Maroofian; Jun Wu; Michael Buszczak
err分享
err收藏
Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2开发一种疾病特异性可及性转录特征作为眼动失用2型共济失调的生物标志物
errMOLECULAR MEDICINE
IF6.4
err2025-05-24
err0
errOAAI
errNgo, Kathie J.; Wong, Darice Y.; Huang, Alden Y.; Lee, Hane; Nelson, Stanley F.; Fogel, Brent L.
err分享
err收藏
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven CountriesNEUROMYODredger：七国全外显子组测序在神经发育和神经肌肉疾病诊断中的应用
errCLINICAL GENETICS
IF2.3
err2025-02-25
err0
errOAAI
errEdoardo Malfatti; Alexandru Caramizaru; Hane Lee; JiHye Kim; Hussein Shoaito; Alessandra Pennisi; Sarah Souvannanorath; François-Jérôme Authier; Andreea Dumitrescu; Nagia Fahmy; Rosa Elena Escobar-Cedillo; Antonio Miranda-Duarte; Alexandra Berenice Luna-Angulo; Sonia Nouioua; Ouissem Benchaabi; Meriem Tazir; Sihem Hallal; Peggy Martinez; Claudia Castiglioni; Amelia Dobrescu; Homa Tajsharghi
err分享
err收藏
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders对18,994名怀疑患有罕见孟德尔疾病的具有不同族裔背景的患者进行外显子测序
errNPJ GENOMIC MEDICINE
IF4.8
err2025-01-22
err0
errOAAI
errHan, 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
err分享
err收藏
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program
errHUMAN MUTATION
IF3.7
err2025-01-01
err0
errOAAI
errKhang, Rin; Lee, Hane; Kim, Jihye; Moon, Dongseok; Jang, Seokhui; Lee, Eugene; Song, Yongjun; Ryu, Seung Woo; Lee, Sohyun; Han, Heonjong; Kim, Sukwon; Jang, Sohyun; Sohn, Young Bae; Kim, Won Seop; Lee, Ji-Eun; Kim, Juwon; Cho, Yonggon; Lee, Bo Lyun; Lim, Han Hyuk; Kook, Hoon; Kang, Ki-Soo; Kwon, Soonhak; Lee, Jiwon; Seo, Go Hun; Oh, Seung Hwan; Cheon, Chong Kun
err分享
err收藏
Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans
errHUMAN GENETICS
IF3.6
err2024-11-06
err0
errOAAI
errCortes-Gonzalez, Vianney; Rodriguez-Morales, Miguel; Ataliotis, Paris; Mayer, Claudine; Plaisancie, Julie; Chassaing, Nicolas; Lee, Hane; Rozet, Jean-Michel; Cavodeassi, Florencia; Taie, Lucas Fares
err分享
err收藏
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy顶端神经祖细胞对称细胞分裂的丧失导致DENND5A-related发育和癫痫性脑病
errNATURE COMMUNICATIONS
IF15.7
err2024-08-22
err0
errOAAI
errBanks, Emily; Francis, Vincent; Lin, Sheng-Jia; Kharfallah, Fares; Fonov, Vladimir; Levesque, Maxime; Han, Chanshuai; Kulasekaran, Gopinath; Tuznik, Marius; Bayati, Armin; Al-Khater, Reem; Alkuraya, Fowzan S.; Argyriou, Loukas; Babaei, Meisam; Bahlo, Melanie; Bakhshoodeh, Behnoosh; Barr, Eileen; Bartik, Lauren; Bassiony, Mahmoud; Bertrand, Miriam; Braun, Dominique; Buchert, Rebecca; Budetta, Mauro; Cadieux-Dion, Maxime; Calame, Daniel G.; Cope, Heidi; Cushing, Donna; Efthymiou, Stephanie; Abd Elmaksoud, Marwa; El Said, Huda G.; Froukh, Tawfiq; Gill, Harinder K.; Gleeson, Joseph G.; Gogoll, Laura; Goh, Elaine S-Y; Gowda, Vykuntaraju K.; Haack, Tobias B.; Hashem, Mais O.; Hauser, Stefan; Hoffman, Trevor L.; Hogue, Jacob S.; Hosokawa, Akimoto; Houlden, Henry; Huang, Kevin; Huynh, Stephanie; Karimiani, Ehsan G.; Kaulfuss, Silke; Korenke, G. Christoph; Kritzer, Amy; Lee, Hane; Lupski, James R.; Marco, Elysa J.; McWalter, Kirsty; Minassian, Arakel; Minassian, Berge A.; Murphy, David; Neira-Fresneda, Juanita; Northrup, Hope; Nyaga, Denis M.; Oehl-Jaschkowitz, Barbara; Osmond, Matthew; Person, Richard; Pehlivan, Davut; Petree, Cassidy; Sadleir, Lynette G.; Saunders, Carol; Schoels, Ludger; Shashi, Vandana; Spillmann, Rebecca C.; Srinivasan, Varunvenkat M.; Torbati, Paria N.; Tos, Tulay; Network, Undiagnosed Diseases; Zaki, Maha S.; Zhou, Dihong; Zweier, Christiane; Trempe, Jean-Francois; Durcan, Thomas M.; Gan-Or, Ziv; Avoli, Massimo; Alves, Cesar; Varshney, Gaurav K.; Maroofian, Reza; Rudko, David A.; McPherson, Peter S.
err分享
err收藏
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing
errNEUROLOGY-GENETICS
IF3.7
err2024-06-01
err1
errOAAI
errWatson, Sonya; Ngo, Kathie J.; Stevens, Hannah A.; Wong, Darice Y.; Kim, Jihye; Song, Yongjun; Han, Beomman; Hyun, Seong-In; Khang, Rin; Ryu, Seung Woo; Lee, Eugene; Seo, Gohun; Lee, Hane; Lajonchere, Clara; Fogel, Brent L.
err分享
err收藏
Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes
errJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
err2024-05-08
err1
errOAAI
errMartinez-Mayer, Julian; Vishnopolska, Sebastian; Perticarari, Catalina; Garcia, Lucia Iglesias; Hackbartt, Martina; Martinez, Marcela; Zaiat, Jonathan; Jacome-Alvarado, Andrea; Braslavsky, Debora; Keselman, Ana; Bergada, Ignacio; Marino, Roxana; Ramirez, Pablo; Garrido, Natalia Perez; Ciaccio, Marta; Di Palma, Maria Isabel; Belgorosky, Alicia; Forclaz, Maria Veronica; Benzrihen, Gabriela; D'Amato, Silvia; Cirigliano, Maria Lujan; Miras, Mirta; Nunez, Alejandra Paez; Castro, Laura; Mallea-Gil, Maria Susana; Ballarino, Carolina; Latorre-Villacorta, Laura; Casiello, Ana Clara; Hernandez, Claudia; Figueroa, Veronica; Alonso, Guillermo; Morin, Analia; Guntsche, Zelmira; Lee, Hane; Lee, Eugene; Song, Yongjun; Marti, Marcelo Adrian; Perez-Millan, Maria Ines
err分享
err收藏
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-01-01
err3
errOAAI
errSalpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S.; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N.; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Cali, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C.; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G.; Abdel-Hamid, Mohamed S.; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Rafat, Karima; Marinakis, Nikolaos M.; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Zand, Farhad Khadivi; Toosi, Mehran Beiraghi; Babaei, Meisam; Jackson, Adam; Bertoli-Avella, Aida; Pagnamenta, Alistair T.; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K.; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K.; Green, Rachel; Alkuraya, Fowzan S.; Jepson, James E. C.; Houlden, Henry
err分享
err收藏
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-12-01
err6
errOAAI
errEngal, Eden; Oja, Kaisa Teele; Maroofian, Reza; Geminder, Ophir; Le, Thuy-Linh; Marzin, Pauline; Guimier, Anne; Mor, Evyatar; Zvi, Naama; Elefant, Naama; Zaki, Maha S.; Gleeson, Joseph G.; Muru, Kai; Pajusalu, Sander; Wojcik, Monica H.; Pachat, Divya; Elmaksoud, Marwa Abd; Jeong, Won Chan; Lee, Hane; Bauer, Peter; Zifarelli, Giovanni; Houlden, Henry; Daana, Muhannad; Elpeleg, Orly; Amiel, Jeanne; Lyonnet, Stanislas; Gordon, Christopher T.; Harel, Tamar; Ounap, Katrin; Salton, Maayan; Mor-Shaked, Hagar
err分享
err收藏
Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2023-05-31
err2
errOAAI
errChang, Yin-Hsi; Kang, Eugene Yu-Chuan; Liu, Laura; Jenny, Laura. A. A.; Khang, Rin; Seo, Go Hun; Lee, Hane; Chen, Kuan-Jen; Wu, Wei-Chi; Hsiao, Meng-Chang; Wang, Nan-Kai
err分享
err收藏
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis
errEMBO MOLECULAR MEDICINE
IF8.3
err2023-04-17
err3
errOAAI
errWong, Samantha; Tan, Yu Xuan; Loh, Abigail Yi Ting; Tan, Kiat Yi; Lee, Hane; Aziz, Zainab; Nelson, Stanley F.; Ozkan, Engin; Kayserili, Hülya; Escande-Beillard, Nathalie; Reversade, Bruno
err分享
err收藏

研究方向

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合作学者
合作期刊
R
Richard A. Gibbs
H 指数: 190 · 论文数: 1.3K
D
Daniel H. Geschwind
H 指数: 188 · 论文数: 968
H
Håkon Håkonarson
H 指数: 177 · 论文数: 1.5K
A
Antoni Ribas
H 指数: 158 · 论文数: 1.7K
S
Steven M. Holland
H 指数: 155 · 论文数: 1.9K
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