Heon Yung Gee (Yujin Sub)

Loop profile Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 47

Top Topics

Top Venues

Experimental & molecular medicine

Journal of clinical medicine

Nature communications

Scientific reports

This page only lists publications with an associated author ORCID identifier.

Publications

Minseong Kim, Hojun Choi, Deok-Jin Jang, Hye-Jung Kim, Heon Yung Gee, Chulhee Choi
Exploring the clinical transition of engineered exosomes designed for intracellular delivery of therapeutic proteins. Stem cells translational medicine 13 (7) (2024)
Joonho Jung, Seung Hyun Jang, Dongju Won, Heon Yung Gee, Jae Young Choi, Jinsei Jung
Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants of WFS1 . Journal of clinical medicine 13 (16) (2024)
Yura Lee, Kwang H Kim, Jihwan Park, Hyun Mi Kang, Sung-Hee Kim, Haengdueng Jeong, Buhyun Lee, Nakyum Lee, Yejin Cho, Gyeong Dae Kim, Seyoung Yu, Heon Yung Gee, Jinwoong Bok, Maxwell S Hamilton, Leslie S Gewin, Bruce J Aronow, Kyung Min Lim, D Borden Lacy, Ki Taek Nam
Regenerative Role of Lrig1+ Cells in Kidney Repair. Journal of the American Society of Nephrology : JASN (2024)
Dong Ki Lee, Jongwook Oh, Hyun Woo Park, Heon Yung Gee
Anchorage Dependence and Cancer Metastasis. Journal of Korean medical science 39 (19) (2024)
Minseong Kim, Hojun Choi, Deok-Jin Jang, Hye-Jung Kim, Heon Yung Gee, Chulhee Choi
Exploring the clinical transition of engineered exosomes designed for intracellular delivery of therapeutic proteins. Stem cells translational medicine 13 (7) (2024)
Dong Ki Lee, Jongwook Oh, Hyun Woo Park, Heon Yung Gee
Anchorage Dependence and Cancer Metastasis. Journal of Korean medical science 39 (19) (2024)
Ji Hyuk Han, Seong Hoon Bae, Sun Young Joo, Jung Ah Kim, Se Jin Kim, Seung Hyun Jang, Dongju Won, Heon Yung Gee, Jae Young Choi, Jinsei Jung, Sung Huhn Kim
Characterization of Vestibular Phenotypes in Patients with Genetic Hearing Loss. Journal of clinical medicine 13 (7) (2024)
Ji Hyuk Han, Seong Hoon Bae, Sun Young Joo, Jung Ah Kim, Se Jin Kim, Seung Hyun Jang, Dongju Won, Heon Yung Gee, Jae Young Choi, Jinsei Jung, Sung Huhn Kim
Characterization of Vestibular Phenotypes in Patients with Genetic Hearing Loss. Journal of clinical medicine 13 (7) (2024)
Joonho Jung, Seung Hyun Jang, Dongju Won, Heon Yung Gee, Jae Young Choi, Jinsei Jung
Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants of WFS1 . Journal of clinical medicine 13 (16) (2024)
Minseong Kim, Hojun Choi, Deok-Jin Jang, Hye-Jung Kim, Yujin Sub, Heon Yung Gee, Chulhee Choi
Exploring the clinical transition of engineered exosomes designed for intracellular delivery of therapeutic proteins. Stem cells translational medicine (2024)
Ji Hyuk Han, Seong Hoon Bae, Sun Young Joo, Jung Ah Kim, Se Jin Kim, Seung Hyun Jang, Dongju Won, Heon Yung Gee, Jae Young Choi, Jinsei Jung, Sung Huhn Kim
Characterization of Vestibular Phenotypes in Patients with Genetic Hearing Loss. Journal of clinical medicine 13 (7) (2024)
Jung Ah Kim, Sung-Hee Kim, Jeong Jin Kim, Hyun Ah Noh, Su-Bin Lee, Haengdueng Jeong, Jiseon Kim, Donghun Jeon, Jung Seon Seo, Dain On, Suhyeon Yoon, Sang Gyu Lee, Youn Woo Lee, Hui Jeong Jang, In Ho Park, Jooyeon Oh, Sang-Hyuk Seok, Yu Jin Lee, Seung-Min Hong, Se-Hee An, Joon-Yong Bae, Jung-Ah Choi, Seo Yeon Kim, Young Been Kim, Ji-Yeon Hwang, Hyo-Jung Lee, Hong Bin Kim, Dae-Gwin Jeong, Dae-Sub Song, Man Ki Song, Man-Seong Park, Kang-Seuk Choi, Jun Won Park, Jun-Won Yun, Jeon-Soo Shin, Ho-Young Lee, Sin-Hyeog Im, Jun-Young Seo, Ki Taek Nam, Heon Yung Gee, Je-Kyung Seong
Immune Cells Are Differentially Affected by SARS-CoV-2 Viral Loads in K18-hACE2 Mice. Immune network 24 (2) (2024)
Minseong Kim, Hojun Choi, Deok-Jin Jang, Hye-Jung Kim, Heon Yung Gee, Chulhee Choi
Exploring the clinical transition of engineered exosomes designed for intracellular delivery of therapeutic proteins. Stem cells translational medicine 13 (7) (2024)
Jung Ah Kim, Sung-Hee Kim, Jeong Jin Kim, Hyun Ah Noh, Su-Bin Lee, Haengdueng Jeong, Jiseon Kim, Donghun Jeon, Jung Seon Seo, Dain On, Suhyeon Yoon, Sang Gyu Lee, Youn Woo Lee, Hui Jeong Jang, In Ho Park, Jooyeon Oh, Sang-Hyuk Seok, Yu Jin Lee, Seung-Min Hong, Se-Hee An, Joon-Yong Bae, Jung-Ah Choi, Seo Yeon Kim, Young Been Kim, Ji-Yeon Hwang, Hyo-Jung Lee, Hong Bin Kim, Dae-Gwin Jeong, Dae-Sub Song, Man Ki Song, Man-Seong Park, Kang-Seuk Choi, Jun Won Park, Jun-Won Yun, Jeon-Soo Shin, Ho-Young Lee, Sin-Hyeog Im, Jun-Young Seo, Ki Taek Nam, Heon Yung Gee, Je-Kyung Seong
Immune Cells Are Differentially Affected by SARS-CoV-2 Viral Loads in K18-hACE2 Mice. Immune network 24 (2) (2024)
Yura Lee, Kwang H Kim, Jihwan Park, Hyun Mi Kang, Sung-Hee Kim, Haengdueng Jeong, Buhyun Lee, Nakyum Lee, Yejin Cho, Gyeong Dae Kim, Seyoung Yu, Heon Yung Gee, Jinwoong Bok, Maxwell S Hamilton, Leslie S Gewin, Bruce J Aronow, Kyung Min Lim, D Borden Lacy, Ki Taek Nam
Regenerative Role of Lrig1+ Cells in Kidney Repair. Journal of the American Society of Nephrology : JASN (2024)
Jongwook Oh, Hyun Ju Oh, Kyung-Do Han, Heon Yung Gee, Ji-Hyun Lee
Increased Risk of Renal Malignancy in Patients with Moderate to Severe Atopic Dermatitis. Cancers 15 (20) (2023)
Dong Yun Kim, Jun Yong Park, Heon Yung Gee
Lactobacillus plantarum ameliorates NASH-related inflammation by upregulating L-arginine production. Experimental & molecular medicine (2023)
Sun Young Joo, Seung Hyun Jang, Jung Ah Kim, Se Jin Kim, Bonggi Kim, Hye-Youn Kim, Jae Young Choi, Heon Yung Gee, Jinsei Jung
Prevalence and Clinical Characteristics of Mitochondrial DNA Mutations in Korean Patients With Sensorineural Hearing Loss. Journal of Korean medical science 38 (48) (2023)
Kyung Seok Oh, Jae Won Roh, Sun Young Joo, Kunhi Ryu, Jung Ah Kim, Se Jin Kim, Seung Hyun Jang, Young Ik Koh, Da Hye Kim, Hye-Youn Kim, Murim Choi, Jinsei Jung, Wan Namkung, Joo Hyun Nam, Jae Young Choi, Heon Yung Gee
Overlooked KCNQ4 variants augment the risk of hearing loss. Experimental & molecular medicine (2023)
Minjin Kang, Jung Ah Kim, Mee Hyun Song, Sun Young Joo, Se Jin Kim, Seung Hyun Jang, Ho Lee, Je-Kyung Seong, Jae Young Choi, Heon Yung Gee, Jinsei Jung
Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss. Cells 12 (18) (2023)
Young Ik Koh, Kyung Seok Oh, Jung Ah Kim, Byunghwa Noh, Hye Ji Choi, Sun Young Joo, John Hoon Rim, Hye-Youn Kim, Dong Yun Kim, Seyoung Yu, Da Hye Kim, Sang-Guk Lee, Jinsei Jung, Jae Young Choi, Heon Yung Gee
OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin. Autophagy 18 (11) (2022)
Jeongeun Lee, Jean Lee, Sungwon Jeon, Jeongha Lee, Insu Jang, Jin Ok Yang, Soojin Park, Byungwook Lee, Jinwook Choi, Byung-Ok Choi, Heon Yung Gee, Jaeseong Oh, In-Jin Jang, Sanghyuk Lee, Daehyun Baek, Youngil Koh, Sung Soo Yoon, Young-Joon Kim, Jong-Hee Chae, Woong-Yang Park, Jong Hwa Bhak, Murim Choi
A database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population. Experimental & molecular medicine 54 (11) (2022)
Sun Young Joo, Gina Na, Jung Ah Kim, Jee Eun Yoo, Da Hye Kim, Se Jin Kim, Seung Hyun Jang, Seyoung Yu, Hye-Youn Kim, Jae Young Choi, Heon Yung Gee, Jinsei Jung
Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains. Biomedicines 10 (4) (2022)
Jung Min Kim, John Hoon Rim, Da Hye Kim, Hye-Youn Kim, Sung Kyoung Choi, Dong Yun Kim, Yo Jun Choi, Seyoung Yu, Jae Hee Cheon, Heon Yung Gee
Microbiome analysis reveals that Ralstonia is responsible for decreased renal function in patients with ulcerative colitis. Clinical and translational medicine 11 (3) (2022)
Jung Ah Kim, Sung-Hee Kim, Jung Seon Seo, Hyun Ah Noh, Haengdueng Jeong, Jiseon Kim, Donghun Jeon, Jeong Jin Kim, Dain On, Suhyeon Yoon, Sang Gyu Lee, Youn Woo Lee, Hui Jeong Jang, In Ho Park, Jooyeon Oh, Sang-Hyuk Seok, Yu Jin Lee, Seung-Min Hong, Se-Hee An, Joon-Yong Bae, Jung-Ah Choi, Seo Yeon Kim, Young Been Kim, Ji-Yeon Hwang, Hyo-Jung Lee, Hong Bin Kim, Dae-Gwin Jeong, Dae-Sub Song, Man Ki Song, Man-Seong Park, Kang-Seuk Choi, Jun Won Park, Jun-Won Yun, Jeon-Soo Shin, Ho-Young Lee, Jun-Young Seo, Ki Taek Nam, Heon Yung Gee, Je-Kyung Seong
Temporal Transcriptome Analysis of SARS-CoV-2-Infected Lung and Spleen in Human ACE2-Transgenic Mice. Molecules and cells (2022)
Sang-Yeon Lee, Hyun Been Choi, Mina Park, Il Soon Choi, Jieun An, Ami Kim, Eunku Kim, Nahyun Kim, Jin Hee Han, Min Young Kim, Seung Min Lee, Doo-Yi Oh, Bong Jik Kim, Nayoung Yi, Nayoung K D Kim, Chung Lee, Woong-Yang Park, Young Ik Koh, Heon Yung Gee, Hyun Sung Cho, Tong Mook Kang, Byung Yoon Choi
Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss. Experimental & molecular medicine 53 (7) (2021)
John Hoon Rim, Jae Young Choi, Jinsei Jung, Heon Yung Gee
Activation of KCNQ4 as a Therapeutic Strategy to Treat Hearing Loss. International journal of molecular sciences 22 (5) (2021)
Kyung Won Kim, Dong Yun Kim, Dankyu Yoon, Ka-Kyung Kim, Haerin Jang, Nathan Schoettler, Eun Gyul Kim, Mi Na Kim, Jung Yeon Hong, Jeom-Kyu Lee, Sangwoo Kim, Carole Ober, Heon Yung Gee, Myung Hyun Sohn
Genome-wide association study identifies TNFSF15 associated with childhood asthma. Allergy (2021)
John Hoon Rim, Byunghwa Noh, Young Ik Koh, Sun Young Joo, Kyung Seok Oh, Kyumin Kim, Jung Ah Kim, Da Hye Kim, Hye-Youn Kim, Jee Eun Yoo, Seung-Tae Lee, Jin Woong Bok, Min Goo Lee, Jinsei Jung, Jae Young Choi, Heon Yung Gee
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation. Human genetics (2021)
Ji-Hee Kim, Kyu-Hee Hwang, Bao T N Dang, Minseob Eom, In Deok Kong, Yousang Gwack, Seyoung Yu, Heon Yung Gee, Lutz Birnbaumer, Kyu-Sang Park, Seung-Kuy Cha
Insulin-activated store-operated Ca2+ entry via Orai1 induces podocyte actin remodeling and causes proteinuria. Nature communications 12 (1) (2021)
So Ra Kim, Sang Guk Lee, Soo Hyun Kim, Jin Hee Kim, Eunhye Choi, Wonhee Cho, John Hoon Rim, Inhwa Hwang, Chan Joo Lee, Minyoung Lee, Chang-Myung Oh, Justin Y Jeon, Heon Yung Gee, Jeong Ho Kim, Byung-Wan Lee, Eun Seok Kang, Bong-Soo Cha, Myung-Shik Lee, Je-Wook Yu, Jin Won Cho, Jung-Sun Kim, Eun Young Lee
SGLT2 inhibition modulates NLRP3 inflammasome activity via ketones and insulin in diabetes with cardiovascular disease. Nature communications 11 (1) (2020)
John Hoon Rim, Yo Jun Choi, Heon Yung Gee
Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation. Biomolecules 10 (3) (2020)
Eugen Widmeier, Seyoung Yu, Anish Nag, Youn Wook Chung, Makiko Nakayama, Lucía Fernández-Del-Río, Hannah Hugo, David Schapiro, Florian Buerger, Won-Il Choi, Martin Helmstädter, Jae-Woo Kim, Ji-Hwan Ryu, Min Goo Lee, Catherine F Clarke, Friedhelm Hildebrandt, Heon Yung Gee
ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment. Journal of the American Society of Nephrology : JASN 31 (6) (2020)
Seyoung Yu, Won-Il Choi, Yo Jun Choi, Hye-Youn Kim, Friedhelm Hildebrandt, Heon Yung Gee
PLCE1 regulates the migration, proliferation, and differentiation of podocytes. Experimental & molecular medicine 52 (4) (2020)
Jiyoon Kim, Hyeyon Kim, Shin Hye Noh, Dong Geon Jang, Shi-Young Park, Dongkook Min, Hyunki Kim, Hee-Seok Kweon, Hoguen Kim, Sowon Aum, Sookyung Seo, Cheol Soo Choi, Hail Kim, Jae Woo Kim, Seok Jun Moon, Heon Yung Gee, Min Goo Lee
Grasp55-/- mice display impaired fat absorption and resistance to high-fat diet-induced obesity. Nature communications 11 (1) (2020)
John Hoon Rim, Joon Suk Lee, Jinsei Jung, Ji-Hyun Lee, Seung-Tae Lee, Jong Rak Choi, Jae Young Choi, Min Goo Lee, Heon Yung Gee
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency. Scientific reports 9 (1) (2019)
Jinsei Jung, Haiyue Lin, Young Ik Koh, Kunhi Ryu, Joon Suk Lee, John Hoon Rim, Hye Ji Choi, Hak Joon Lee, Hye-Youn Kim, Seyoung Yu, Hyunsoo Jin, Ji-Hyun Lee, Min Goo Lee, Wan Namkung, Jae Young Choi, Heon Yung Gee
Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment. Experimental & molecular medicine 51 (8) (2019)
Sumeda Nandadasa, Caroline M Kraft, Lauren W Wang, Anna O'Donnell, Rushabh Patel, Heon Yung Gee, Kay Grobe, Timothy C Cox, Friedhelm Hildebrandt, Suneel S Apte
Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis. Nature communications 10 (1) (2019)
Do Hyeon Cha, Heon Yung Gee, Raul Cachau, Jong Mun Choi, Daeui Park, Sun Ha Jee, Seungho Ryu, Kyeong Kyu Kim, Hong-Hee Won, Sophie Limou, Woojae Myung, Cheryl A Winkler, Sung Kweon Cho
Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes. Scientific reports 9 (1) (2019)
Kyeong Jee Cho, Shin Hye Noh, Soo Min Han, Won-Il Choi, Hye-Youn Kim, Seyoung Yu, Joon Suk Lee, John Hoon Rim, Min Goo Lee, Friedhelm Hildebrandt, Heon Yung Gee
ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. PLoS genetics 14 (3) (2018)
Dong Hoon Shin, Jinsei Jung, Young Ik Koh, John Hoon Rim, Joon Suk Lee, Hye Ji Choi, Sun Young Joo, Seyoung Yu, Do Hyeon Cha, Seung Yeon Lee, Ji Hyun Lee, Min Goo Lee, Jae Young Choi, Heon Yung Gee
A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators. Human mutation 40 (3) (2018)
Shazia Ashraf, Hiroki Kudo, Jia Rao, Atsuo Kikuchi, Eugen Widmeier, Jennifer A Lawson, Weizhen Tan, Tobias Hermle, Jillian K Warejko, Shirlee Shril, Merlin Airik, Tilman Jobst-Schwan, Svjetlana Lovric, Daniela A Braun, Heon Yung Gee, David Schapiro, Amar J Majmundar, Carolin E Sadowski, Werner L Pabst, Ankana Daga, Amelie T van der Ven, Johanna M Schmidt, Boon Chuan Low, Anjali Bansal Gupta, Brajendra K Tripathi, Jenny Wong, Kirk Campbell, Kay Metcalfe, Denny Schanze, Tetsuya Niihori, Hiroshi Kaito, Kandai Nozu, Hiroyasu Tsukaguchi, Ryojiro Tanaka, Kiyoshi Hamahira, Yasuko Kobayashi, Takumi Takizawa, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Naonori Kumagai, Kazumoto Iijima, Henry Fehrenbach, Jameela A Kari, Sherif El Desoky, Sawsan Jalalah, Radovan Bogdanovic, Nataša Stajić, Hildegard Zappel, Assel Rakhmetova, Sharon-Rose Wassmer, Therese Jungraithmayr, Juergen Strehlau, Aravind Selvin Kumar, Arvind Bagga, Neveen A Soliman, Shrikant M Mane, Lewis Kaufman, Douglas R Lowy, Mohamad A Jairajpuri, Richard P Lifton, York Pei, Martin Zenker, Shigeo Kure, Friedhelm Hildebrandt
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. Nature communications 9 (1) (2018)
Jinsei Jung, Hyun Been Choi, Young Ik Koh, John Hoon Rim, Hye Ji Choi, Sung Huhn Kim, Jae Hyun Lee, Jieun An, Ami Kim, Joon Suk Lee, Sun Young Joo, Seyoung Yu, Jae Young Choi, Tong Mook Kang, Heon Yung Gee
Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss. Scientific reports 8 (1) (2018)
Hao Lu, Maria C Rondón Galeano, Elisabeth Ott, Geraldine Kaeslin, P Jaya Kausalya, Carina Kramer, Nadina Ortiz-Brüchle, Nadescha Hilger, Vicki Metzis, Milan Hiersche, Shang Yew Tay, Robert Tunningley, Shubha Vij, Andrew D Courtney, Belinda Whittle, Elke Wühl, Udo Vester, Björn Hartleben, Steffen Neuber, Valeska Frank, Melissa H Little, Daniel Epting, Peter Papathanasiou, Andrew Charles Perkins, Graham Daniel Wright, Walter Hunziker, Heon Yung Gee, Edgar A Otto, Klaus Zerres, Friedhelm Hildebrandt, Sudipto Roy, Carol Wicking, Carsten Bergmann
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nature genetics 49 (7) (2017)
John Hoon Rim, Taemi Youk, Jung Gu Kang, Byung Kyu Park, Heon Yung Gee, Jeong-Ho Kim, Jongha Yoo
Fecal Occult Blood Test Results of the National Colorectal Cancer Screening Program in South Korea (2006-2013). Scientific reports 7 (1) (2017)
Daniela A Braun, Jia Rao, Geraldine Mollet, David Schapiro, Marie-Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Jennifer A Lawson, Denny Schanze, Shazia Ashraf, Jeremy F P Ullmann, Charlotte A Hoogstraten, Nathalie Boddaert, Bruno Collinet, Gaëlle Martin, Dominique Liger, Svjetlana Lovric, Monica Furlano, I Chiara Guerrera, Oraly Sanchez-Ferras, Jennifer F Hu, Anne-Claire Boschat, Sylvia Sanquer, Björn Menten, Sarah Vergult, Nina De Rocker, Merlin Airik, Tobias Hermle, Shirlee Shril, Eugen Widmeier, Heon Yung Gee, Won-Il Choi, Carolin E Sadowski, Werner L Pabst, Jillian K Warejko, Ankana Daga, Tamara Basta, Verena Matejas, Karin Scharmann, Sandra D Kienast, Babak Behnam, Brendan Beeson, Amber Begtrup, Malcolm Bruce, Gaik-Siew Ch'ng, Shuan-Pei Lin, Jui-Hsing Chang, Chao-Huei Chen, Megan T Cho, Patrick M Gaffney, Patrick E Gipson, Chyong-Hsin Hsu, Jameela A Kari, Yu-Yuan Ke, Cathy Kiraly-Borri, Wai-Ming Lai, Emmanuelle Lemyre, Rebecca Okashah Littlejohn, Amira Masri, Mastaneh Moghtaderi, Kazuyuki Nakamura, Fatih Ozaltin, Marleen Praet, Chitra Prasad, Agnieszka Prytuła, Elizabeth R Roeder, Patrick Rump, Rhonda E Schnur, Takashi Shiihara, Manish D Sinha, Neveen A Soliman, Kenza Soulami, David A Sweetser, Wen-Hui Tsai, Jeng-Daw Tsai, Rezan Topaloglu, Udo Vester, David H Viskochil, Nithiwat Vatanavicharn, Jessica L Waxler, Klaas J Wierenga, Matthias T F Wolf, Sik-Nin Wong, Sebastian A Leidel, Gessica Truglio, Peter C Dedon, Annapurna Poduri, Shrikant Mane, Richard P Lifton, Maxime Bouchard, Peter Kannu, David Chitayat, Daniella Magen, Bert Callewaert, Herman van Tilbeurgh, Martin Zenker, Corinne Antignac, Friedhelm Hildebrandt
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nature genetics 49 (10) (2017)
Ikhyun Jun, Joon Suk Lee, Ji Hwan Lee, Christopher Seungkyu Lee, Seung-Il Choi, Heon Yung Gee, Min Goo Lee, Eung Kweon Kim
Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy. Scientific reports 7 (1) (2017)