Genetic and clinical characteristics of PROM1-related retinal degeneration in Korean
Hwang, Sungsoon, Kang, Se Woong, Jang, Ja-Hyun, Kim, Sang Jin
Published in Scientific reports (11.12.2023)
Published in Scientific reports (11.12.2023)
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The novel missense variant c.350G>T on the ABOB.01 allele associated with a Bel phenotype
Kim, Tae Yeul, Yu, HongBi, Chung, Yoo Na, Jang, Ja‐Hyun, Cho, Duck
Published in Transfusion (Philadelphia, Pa.) (01.10.2020)
Published in Transfusion (Philadelphia, Pa.) (01.10.2020)
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Journal Article
Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach
Jang, Ja-Hyun, Lee, Taeheon, Bang, Sunghee, Kim, Young-Eun, Cho, Eun-Hae
Published in Journal of human genetics (01.09.2017)
Published in Journal of human genetics (01.09.2017)
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Journal Article
Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines
Yoon, Eungjun, Lee, Jong Kwon, Park, Taek Kyu, Chang, Sung-A, Huh, June, Kim, Jong-Won, Kim, Duk-Kyung, Jang, Ja-Hyun
Published in Journal of medical genetics (01.01.2024)
Published in Journal of medical genetics (01.01.2024)
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Evaluation of the Kaira COVID-19/Flu/RSV Detection Kit for detection of SARS-CoV-2, influenza A/B, and respiratory syncytial virus: A comparative study with the PowerChek SARS-CoV-2, influenza A&B, RSV Multiplex Real-time PCR Kit
Kim, Tae Yeul, Bae, Go Eun, Kim, Ji-Youn, Kang, Minhee, Jang, Ja-Hyun, Huh, Hee Jae, Chung, Doo Ryeon, Lee, Nam Yong
Published in PloS one (14.12.2022)
Published in PloS one (14.12.2022)
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Genome-wide copy number alteration and VEGFA amplification of circulating cell-free DNA as a biomarker in advanced hepatocellular carcinoma patients treated with Sorafenib
Oh, Chung Ryul, Kong, Sun-Young, Im, Hyeon-Su, Kim, Hwa Jung, Kim, Min Kyeong, Yoon, Kyong-Ah, Cho, Eun-Hae, Jang, Ja-Hyun, Lee, Junnam, Kang, Jihoon, Park, Sook Ryun, Ryoo, Baek-Yeol
Published in BMC cancer (01.04.2019)
Published in BMC cancer (01.04.2019)
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Optimization of extraction-free protocols for SARS-CoV-2 detection using a commercial rRT-PCR assay
Kang, Minhee, Jeong, Eunjung, Kim, Ji-Yeon, Yun, Sun Ae, Jang, Mi-Ae, Jang, Ja-Hyun, Kim, Tae Yeul, Huh, Hee Jae, Lee, Nam Yong
Published in Scientific reports (21.11.2023)
Published in Scientific reports (21.11.2023)
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Journal Article
Short tandem repeat expansions in cortical layer‐specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder
Kim, Jae Hyun, Koh, In Gyeong, Lee, Hyeji, Lee, Gang‐Hee, Song, Da‐Yea, Kim, Soo‐Whee, Kim, Yujin, Han, Jae Hyun, Bong, Guiyoung, Lee, Jeewon, Byun, Heejung, Son, Ji Hyun, Kim, Ye Rim, Lee, Yoojeong, Kim, Justine Jaewon, Park, Jung Woo, Kim, Il Bin, Choi, Jung Kyoon, Jang, Ja‐Hyun, Trost, Brett, Lee, Junehawk, Kim, Eunjoon, Yoo, Hee Jeong, An, Joon‐Yong
Published in Psychiatry and clinical neurosciences (01.07.2024)
Published in Psychiatry and clinical neurosciences (01.07.2024)
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Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline
Kim, Jee Ah, Kwon, Won Kyung, Kim, Jong-Won, Jang, Ja-Hyun
Published in Journal of human genetics (01.10.2022)
Published in Journal of human genetics (01.10.2022)
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Journal Article
Clinical feature, GALC variant spectrum, and genotype–phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years
Hwang, Narae, Kim, Sang‐Mi, Kim, Young‐Gon, Ha, Changhee, Lee, Jeehun, Choi, Byung‐Ok, Sung, Won Jae, Kim, Seung Hyun, Kim, Young Mi, Lee, Yong‐Wha, Kim, Jieun, Kim, Jong‐Won, Jang, Ja‐Hyun, Lee, Jiwon, Park, Hyung‐Doo
Published in Clinical genetics (01.08.2024)
Published in Clinical genetics (01.08.2024)
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Overcoming challenges associated with identifying FBN1 deep intronic variants through whole‐genome sequencing
Kim, Jee Ah, Jang, Mi‐Ae, Jang, Shin Yi, Kim, Duk‐Kyung, Kim, Young‐gon, Kim, Jong‐Won, Park, Taek Kyu, Jang, Ja‐Hyun
Published in Journal of clinical laboratory analysis (01.01.2024)
Published in Journal of clinical laboratory analysis (01.01.2024)
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Journal Article
Reclassification of variants of tumor suppressor genes based on Sanger RNA sequencing without NMD inhibition
Ha, Changhee, Jang, Ja-Hyun, Kim, Young-gon, Kim, Jong-Won
Published in Frontiers in genetics (12.10.2023)
Published in Frontiers in genetics (12.10.2023)
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Journal Article
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing
Kim, Yoo‐Mi, Lee, Yun‐Jin, Park, Jae Hong, Lee, Hyoung‐Doo, Cheon, Chong Kun, Kim, Su‐Young, Hwang, Jae‐Yeon, Jang, Ja‐Hyun, Yoo, Han‐Wook
Published in Clinical genetics (01.12.2017)
Published in Clinical genetics (01.12.2017)
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Journal Article
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism
Kim, Ja Hye, Seo, Go Hun, Kim, Gu-Hwan, Huh, Juyoung, Hwang, Il Tae, Jang, Ja-Hyun, Yoo, Han-Wook, Choi, Jin-Ho
Published in Experimental and clinical endocrinology & diabetes (01.09.2019)
Published in Experimental and clinical endocrinology & diabetes (01.09.2019)
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A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re‐evaluating primer sequences
Kim, Sang‐Mi, Noh, Eu Seon, Park, Jong‐Ho, Park, Hyung‐Doo, Lee, Soo‐Youn, Jang, Ja‐Hyun, Cho, Sung Yoon
Published in Annals of human genetics (01.11.2022)
Published in Annals of human genetics (01.11.2022)
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