A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Works by Ja-Hyun Jang
Results: 73
1
2
Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
3
Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia.
- Published in:
- Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1131888
- By:
- Publication type:
- Article
4
Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.
- Published in:
- Genes, 2021, v. 12, n. 10, p. 1578, doi. 10.3390/genes12101578
- By:
- Publication type:
- Article
5
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.
- Published in:
- Genes, 2021, v. 12, n. 9, p. 1308, doi. 10.3390/genes12091308
- By:
- Publication type:
- Article
6
Communication: Evaluation of the Humasis COVID-19 Antigen Rapid Diagnostic Test for the Diagnosis of SARS-CoV-2 Infection.
- Published in:
- Annals of Clinical & Laboratory Science, 2024, v. 54, n. 1, p. 126
- By:
- Publication type:
- Article
7
The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature Review.
- Published in:
- Annals of Clinical & Laboratory Science, 2020, v. 50, n. 6, p. 818
- By:
- Publication type:
- Article
8
The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in FGD1 Diagnosed via Targeted Gene Panel Sequencing.
- Published in:
- Annals of Clinical & Laboratory Science, 2020, v. 50, n. 5, p. 691
- By:
- Publication type:
- Article
9
Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review.
- Published in:
- Annals of Clinical & Laboratory Science, 2018, v. 48, n. 6, p. 776
- By:
- Publication type:
- Article
10
First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review.
- Published in:
- Annals of Clinical & Laboratory Science, 2018, v. 48, n. 4, p. 522
- By:
- Publication type:
- Article
11
A Novel Inherited Mutation of SCN8A in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing.
- Published in:
- Annals of Clinical & Laboratory Science, 2017, v. 47, n. 6, p. 747
- By:
- Publication type:
- Article
12
Identification of the KCNJ2 Mutation in a Korean Family with Andersen-Tawil Syndrome and Developmental Delay.
- Published in:
- Annals of Clinical & Laboratory Science, 2016, v. 46, n. 1, p. 110
- By:
- Publication type:
- Article
13
Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.
- Published in:
- Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-024-00709-2
- By:
- Publication type:
- Article
14
Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.
- Published in:
- Human Genomics, 2025, v. 1, p. 1, doi. 10.1186/s40246-024-00709-2
- By:
- Publication type:
- Article
15
Reclassification of variants of tumor suppressor genes based on Sanger RNA sequencing without NMD inhibition.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1283611
- By:
- Publication type:
- Article
16
Correlation Between Vanishing White Matter Disease and Novel Heterozygous EIF2B3 Variants Using Next-Generation Sequencing: A Case Report.
- Published in:
- Annals of Rehabilitation Medicine, 2019, v. 43, n. 2, p. 234, doi. 10.5535/arm.2019.43.2.234
- By:
- Publication type:
- Article
17
Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
18
Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.
- Published in:
- Brain Communications, 2023, v. 5, n. 3, p. 1, doi. 10.1093/braincomms/fcad139
- By:
- Publication type:
- Article
19
Genetic and clinical characteristics of PROM1-related retinal degeneration in Korean.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-49131-z
- By:
- Publication type:
- Article
20
Optimization of extraction-free protocols for SARS-CoV-2 detection using a commercial rRT-PCR assay.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-47645-0
- By:
- Publication type:
- Article
21
Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 3, p. 212, doi. 10.1038/jhg.2011.139
- By:
- Publication type:
- Article
22
Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 3, p. 222, doi. 10.1038/jhg.2012.13
- By:
- Publication type:
- Article
23
Unilateral posterior polymorphous corneal dystrophy due to a novel ZEB1 gene mutation in a Korean girl.
- Published in:
- Ophthalmic Genetics, 2022, v. 43, n. 5, p. 724, doi. 10.1080/13816810.2022.2106495
- By:
- Publication type:
- Article
24
Prognostic Implications of Monosomies in Patients With Multiple Myeloma.
- Published in:
- 2017
- By:
- Publication type:
- journal article
25
Clinical feature, GALC variant spectrum, and genotype–phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 2, p. 150, doi. 10.1111/cge.14523
- By:
- Publication type:
- Article
26
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 6, p. 594, doi. 10.1111/cge.13038
- By:
- Publication type:
- Article
27
Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1462, doi. 10.1002/ajmg.a.35357
- By:
- Publication type:
- Article
28
A Trp33Arg Mutation at Exon 1 of the MYH9 Gene in a Korean Patient with May-Hegglin Anomaly.
- Published in:
- Yonsei Medical Journal, 2012, v. 53, n. 3, p. 662, doi. 10.3349/ymj.2012.53.3.662
- By:
- Publication type:
- Article
29
Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2020, v. 25, n. 1, p. 63, doi. 10.6065/apem.2020.25.1.63
- By:
- Publication type:
- Article
30
Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2020, v. 25, n. 1, p. 46, doi. 10.6065/apem.2020.25.1.46
- By:
- Publication type:
- Article
31
First identified Korean family with Tatton-Brown- Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln).
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2019, v. 24, n. 4, p. 253, doi. 10.6065/apem.2019.24.4.253
- By:
- Publication type:
- Article
32
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2019, v. 24, n. 3, p. 199, doi. 10.6065/apem.2019.24.3.199
- By:
- Publication type:
- Article
33
A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2019, v. 24, n. 6, p. 137, doi. 10.6065/apem.2019.24.2.137
- By:
- Publication type:
- Article
34
An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2017, v. 22, n. 3, p. 203, doi. 10.6065/apem.2017.22.3.203
- By:
- Publication type:
- Article
35
Overcoming challenges associated with identifying FBN1 deep intronic variants through whole‐genome sequencing.
- Published in:
- Journal of Clinical Laboratory Analysis, 2024, v. 38, n. 1/2, p. 1, doi. 10.1002/jcla.25009
- By:
- Publication type:
- Article
36
Identification of two novel COL3A1 variants in patients with vascular Ehlers‐Danlos syndrome.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
37
Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1838
- By:
- Publication type:
- Article
38
Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 10, p. N.PAG, doi. 10.1002/mgg3.947
- By:
- Publication type:
- Article
39
Two novel mutations in TTN of a patient with congenital myopathy: A case report.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.866
- By:
- Publication type:
- Article
40
Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.670608
- By:
- Publication type:
- Article
41
TRIP11-PDGFRB fusion in a patient with a therapyrelated myeloid neoplasm with t(5;14)(q33;q32) after treatment for acute promyelocytic leukemia.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
42
Hereditary gene mutations in Korean patients with isolated erythrocytosis.
- Published in:
- Annals of Hematology, 2014, v. 93, n. 6, p. 931, doi. 10.1007/s00277-014-2006-3
- By:
- Publication type:
- Article
43
Genome-wide copy number alteration and VEGFA amplification of circulating cell-free DNA as a biomarker in advanced hepatocellular carcinoma patients treated with Sorafenib.
- Published in:
- 2019
- By:
- Publication type:
- journal article
44
Identification of De Novo Radio-Tartaglia Syndrome and Comparison of Clinical and Molecular Characteristics with Those of 1p36 Deletion Syndrome.
- Published in:
- Annals of Child Neurology, 2025, v. 33, n. 1, p. 8, doi. 10.26815/acn.2024.00717
- By:
- Publication type:
- Article
45
Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-76509-4
- By:
- Publication type:
- Article
46
Functional and Structural Changes in the Membrane-Bound O-Acyltransferase Family Member 7 (MBOAT7) Protein: The Pathomechanism of a Novel MBOAT7 Variant in Patients With Intellectual Disability.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.836954
- By:
- Publication type:
- Article
47
A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re‐evaluating primer sequences.
- Published in:
- Annals of Human Genetics, 2022, v. 86, n. 6, p. 361, doi. 10.1111/ahg.12483
- By:
- Publication type:
- Article
48
Identification of a novel mutation in EXT2 in a fourth‐generation Korean family with multiple osteochondromas and overview of mutation spectrum.
- Published in:
- Annals of Human Genetics, 2019, v. 83, n. 3, p. 160, doi. 10.1111/ahg.12298
- By:
- Publication type:
- Article
49
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.
- Published in:
- PLoS ONE, 2022, v. 17, n. 12, p. 1, doi. 10.1371/journal.pone.0278530
- By:
- Publication type:
- Article
50
Optimal Protocols and Management of Clinical and Genomic Data Collection to Assist in the Early Diagnosis and Treatment of Multiple Congenital Anomalies.
- Published in:
- Children, 2023, v. 10, n. 10, p. 1673, doi. 10.3390/children10101673
- By:
- Publication type:
- Article