Journal of genetic medicine (1226-1769) | AMiner期刊详情 | AMiner

Journal of genetic medicine (1226-1769) | AMiner期刊详情 | AMiner

年发文量

研究主题

论文（344）

排序

时间引用

1Exploring Functional Genetic Variants Underlying Hyperthyroidism and Hypothyroidism in a Korean Population

Gaeun Kim, Hyun-Jung Park, Eun-Jung Kim

2025

引用

2Reclassification of BRCA1/2 Gene Variants of Uncertain Significance According to American College of Medical Genetics and Genomics Guidelines

Kyung Bae Lee, In soo Rheem, Jae Kyung Kim

2025

引用

3Cloud Computing in Population-Scale Genomics: Strategies, Challenges, and Future Directions

Seungsoo Kim, Taekeun Kim, Seungwon Lee, Hae Seo, Jeyun Kang, Dawon Kang, Ina Jeon,Jungmin Choi

2025

引用

4Co-occurrence of Marfan Syndrome and Long QT Syndrome in an Adolescent and Her Family

Chanki Kim,Jihye You

2025

引用

5PIK3CA -Related Overgrowth Spectrum: from Genetic Mechanisms to Targeted Treatment with Alpelisib

Ye Jee Shim, Jang Hyuk Cho

2025

引用

6Novel NUS1 Deletion and 20q13.33 Duplication in a Pediatric Patient with Neurodevelopmental Disorder and Ataxia: A Case Report

Ki-Soo Kang,Kyoung Hee Han, So Young Lee,Jun Hwan Choi, Hyun Jung Lee

2025

引用

7Genetic Testing Strategies for Diagnosing Hereditary Cancer Syndromes: from Somatic Testing to Germline Testing with Illustrative BRCA Cases

Min-Kyung So, Boeun Yoo, Jungwon Huh

2025

引用

8Twin Case of Infantile Cortical Hyperostosis (caffey Disease) with the COL1A1 Mutation and Literature Review in Korea

Ji Hye Shin, Mea-Young Chang, Mi Hyeon Gang, Han Hyuk Lim

2025

引用

9Investigating the Utility of Large Language Models for Image-Based Rare Disease Phenotyping

Jihoon G. Yoon

2025

引用

10The Legal Regulatory Structure of Human Biobanks in Korea: Present and Future

Na-Kyoung Kim

2025

引用

11Clinical Manifestation and Molecular Analysis of Two Infants with Pseudohypoaldosteronism Type 1

You Min Kim, Young Hyun Kim, Jin Kyung Kim

2025

引用

12CHIP Variants and Immunophenotypic Features of HLA-DR(–) Acute Myeloid Leukemia Without PML::RARA Fusion Gene

Youngeun Lee,Hye Ryoun Kim

2025

引用

13Chromosomal Microarray Analysis in Pregnancies with Prenatal Ultrasound Abnormalities According to the Involved Organ Systems

Na Kyung Yu, Bohye Gil,Kirim Hong,Soo Hyun Kim,Hee-Jin Park,Moon Young Kim,Dong Hyun Cha,You Jung Han

2024

引用

14Recent Advances in Neurofibromatosis Type 1 Research: Towards Tailored Therapeutics and Treatment Strategies

Su Jung Park

2024

引用

15Molecular and Clinical Delineation of Patients with Fatty Acid Oxidation Disorder: A Single Center’s Experience

Minji Kim,Sukdong Yoo,Chong Kun Cheon

2024

引用

16Antisense Oligonucleotides in Rare Neurogenetic Disorders

Hui Jin Shin,Ara Ko, Ji Young Oh,Hoon-Chul Kang

2024

引用

17Salih Myopathy and Feingold Syndrome Type 1 Caused by the TTN and MYCN Mutation in an Infant with Congenital Hypotonia

Eunseong Seo, Dohyung Kim,Soojin Hwang,June-Young Koh,Young Seok Ju,Gu-Hwan Kim,Beom Hee Lee

2024

引用

18Late-onset Drug Resistant Epilepsy in an Adolescent with Allan-Herndon-Dudley Syndrome

Soyoung Park,Young-Lim Shin,Go Hun Seo,Yong Hee Hong

Other SectionsAbstractINTRODUCTIONCASEDISCUSSIONACKNOWLEDGEMENTSFUNDINGAUTHORS' CONTRIBUTIONSFigureReference

2024

引用

19Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episode with M.3243a>g Variant Involving the Cerebellum and Basal Ganglia

Chungmo Koo,Jaejin Yang,Jeong Rye Kim,Jeesuk Yu

Other SectionsAbstractINTRODUCTIONCASEDISCUSSIONACKNOWLEDGEMENTSFUNDINGAUTHORS' CONTRIBUTIONSFigureReference

2024

引用

20Mutation Spectrum of NF1 Gene in Korean Unrelated Patients with Neurofibromatosis 1: Six Novel Pathogenic Variants

Sung Hee Han, Eun Joo Kang, Mina Yang, Suekyeung Kim, Sang Gon Lee, Eun Hee Lee

Other SectionsAbstractINTRODUCTIONMATERIALS AND METHODSRESULTSDISCUSSIONACKNOWLEDGEMENTSFUNDINGAUTHORS' CONTRIBUTIONSTableReference

2024

引用

高被引作者

作者	引用	发文
Han-Wook Yoo	212	40
Gu-Hwan Kim	169	31
Beom-hee Lee	156	29
Ji Hae Kang	126	1
Doo Kwun Kim	126	1
Mj Roses	102	1
SH APPEL	102	1
Se Miller	102	1
Allen David Roses	102	1
Hyun MEE Ryu	93	29

高产作者

作者	引用	发文
Han-Wook Yoo	212	40
Gu-Hwan Kim	169	31
Beom-hee Lee	156	29
Hyun MEE Ryu	93	29
S Y Park	68	22
Ko Jung Min	89	21
Go Hun Seo	9	14
Cha Dong Hyun	13	14
Han You Jung	18	13
Moon Young Kim	41	13

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