- Thrombocythemia 1 With THPO Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in Korea
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Jung N, Kim DH, Ha JS, Shim YJ
- KMID: 2470334
- Ann Lab Med.
- 2020 Jul;40(4):341-344.
- doi: 10.3343/alm.2020.40.4.341
No abstract available. -
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- A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
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Lee MJ, Suh CR, Shin JH, Lee JH, Lee Y, Eun BL, Yoo KH, Shim JO
- KMID: 2462099
- Pediatr Gastroenterol Hepatol Nutr.
- 2019 Nov;22(6):581-587.
- doi: 10.5223/pghn.2019.22.6.581
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystemic disease that is associated with the liver, kidney, skin, and central nervous and musculoskeletal systems. ARC occurs as a result... -
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- De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
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Han KH, Park JE, Ki CS
- KMID: 2451970
- Korean J Pediatr.
- 2019 May;62(5):193-197.
- doi: 10.3345/kjp.2018.06772
Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (α3, α4, and α5). ATS is characterized by persistent microscopic... -
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- Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1
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Kim YA, Jin HY, Kim YM
- KMID: 2441911
- J Korean Med Sci.
- 2019 Mar;34(9):e54.
- doi: 10.3346/jkms.2019.34.e54
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive disorder caused by a defect in the immunoglobulin mu binding protein 2 (IGHMBP2) gene, leading to... -
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- Whole Exome Sequencing in the Accurate Diagnosis of Bilateral Breast Cancer: a Case Study
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Li X, Yang M, Zhang Q, Fan Y, Zhu T, Chen F, Wang K
- KMID: 2441858
- J Breast Cancer.
- 2019 Mar;22(1):131-140.
- doi: 10.4048/jbc.2019.22.e10
When faced with a case of bilateral breast cancer (BBC), understanding how to differentiate bilateral primary breast cancer from contralateral metastatic breast cancer is essential for treatment, but clear identification... -
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- Founder Mutations for Early Onset Melanoma as Revealed by Whole Exome Sequencing Suggests That This is Not Associated with the Increasing Incidence of Melanoma in Poland
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Dębniak T, Scott RJ, Lea RA, Górski B, Masojć B, Cybulski C, Kram A, Maleszka R, Gromowski , Paszkowska-Szczur K, Kashyap A, Lener MR, Malińska , Rogoża E, Murawa D, Rudnicka H, Deptuła J, Lubiński
- KMID: 2437624
- Cancer Res Treat.
- 2019 Jan;51(1):337-344.
- doi: 10.4143/crt.2018.157
PURPOSE: Germline mutations within melanoma susceptibility genes are present only in minority of melanoma patients and it is expected that additional genes will be discovered with next generation sequence technology... -
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- Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer
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Yoon KA, Woo SM, Kim YH, Kong SY, Han SS, Park SJ, Lee WJ
- KMID: 2439225
- Genomics Inform.
- 2018 Dec;16(4):e35.
- doi: 10.5808/GI.2018.16.4.e35
Biliary tract cancer (BTC) is a rare cancer and is associated with a poor prognosis. To understand the genetic characteristics of BTC, we analyzed whole-exome sequencing data and identified somatic... -
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- Early Diagnosis of KBG Syndrome Using Diagnostic Exome Sequencing
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Hong JH, Kim SH, Lee ST, Choi JR, Kang HC, Lee JS, Kim HD
- KMID: 2437112
- J Korean Child Neurol Soc.
- 2018 Dec;26(4):272-275.
- doi: 10.26815/jkcns.2018.26.4.272
KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause... -
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- Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing
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Gill I, Kim JH, Moon JH, Kim YJ, Kim NS
- KMID: 2435947
- J Genet Med.
- 2018 Dec;15(2):87-91.
- doi: 10.5734/JGM.2018.15.2.87
X-linked dominant mutations in lysosome-associated membrane protein 2 (LAMP2) gene have been shown to be the cause of Danon disease, which is a rare disease associated with clinical triad of... -
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- The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing
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Choi EM, Lee DH, Kang SJ, Shim YJ, Kim HS, Kim JS, Jeong JI, Ha JS, Jang JH
- KMID: 2433730
- Korean J Pediatr.
- 2018 Dec;61(12):403-406.
- doi: 10.3345/kjp.2018.06289
Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in... -
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- An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing
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Kim J, Cho SY, Yang A, Jang JH, Choi Y, Lee JE, Jin DK
- KMID: 2396141
- Ann Pediatr Endocrinol Metab.
- 2017 Sep;22(3):203-207.
- doi: 10.6065/apem.2017.22.3.203
Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals... -
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- Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family
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Kim YR, Park JB, Lee YJ, Hong MJ, Kim HT, Kim HJ
- KMID: 2389469
- Ann Rehabil Med.
- 2017 Jun;41(3):505-510.
- doi: 10.5535/arm.2017.41.3.505
Diagnostic exome sequencing (DES) is a powerful tool to analyze the pathogenic variants leading to development delay (DD) and intellectual disability (ID). Recently, heterozygous de novo mutation of the histone... -
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- Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing
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Laroussi N, Messaoud O, Chargui M, Ben Fayala C, Elahlafi A, Mokni M, Bashamboo , McElreavey K, Boubaker M, Yacoub Youssef H, Abdelhak S
- KMID: 2394857
- Ann Dermatol.
- 2017 Apr;29(2):243-246.
- doi: 10.5021/ad.2017.29.2.243
No abstract available. -
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- Whole Exome Sequencing in a Korean Child with Joubert Syndrome-related Disorders
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Lee JH, Oh IK, Yoon MJ, Yoon KH
- KMID: 2363007
- Lab Med Online.
- 2017 Jan;7(1):45-48.
- doi: 10.3343/lmo.2017.7.1.45
Joubert syndrome and Joubert syndrome-related disorders (JSRDs) are rare autosomal recessive or X-linked disorders characterized by cerebellar vermis hypoplasia and a brain stem malformation, which presents as the “molar tooth... -
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- Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report
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Oh JY, Do HJ, Lee S, Jang JH, Cho EH, Jang DH
- KMID: 2371347
- Ann Rehabil Med.
- 2016 Dec;40(6):1129-1134.
- doi: 10.5535/arm.2016.40.6.1129
Next-generation sequencing, such as whole-genome sequencing, whole-exome sequencing, and targeted panel sequencing have been applied for diagnosis of many genetic diseases, and are in the process of replacing the traditional... -
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- Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy
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Kang HG, Lee HK, Ahn YH, Joung JG, Nam J, Kim NK, Ko JM, Cho MH, Shin JI, Kim J, Park HW, Park YS, Ha IS, Chung WY, Lee DY, Kim SY, Park WY, Cheong HI
- KMID: 2361538
- Exp Mol Med.
- 2016 Aug;48(8):e251.
- doi: 10.1038/emm.2016.63
Nephronophthisis-related ciliopathy (NPHP-RC) is a common genetic cause of end-stage renal failure during childhood and adolescence and exhibits an autosomal recessive pattern of inheritance. Genetic diagnosis is quite limited owing... -
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- Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology
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Sener EF, Canatan H, Ozkul Y
- KMID: 2316642
- Psychiatry Investig.
- 2016 May;13(3):255-264.
- doi: 10.4306/pi.2016.13.3.255
Autism spectrum disorders (ASD) is characterized by three core symptoms with impaired reciprocal social interaction and communication, a pattern of repetitive behavior and/or restricted interests in early childhood. The prevalence... -
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- A Case of Nasu-Hakola Disease without Fractures or Consanguinity Diagnosed Using Exome Sequencing and Treated with Sodium Valproate
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Yamazaki K, Yoshino Y, Mori Y, Ochi S, Yoshida T, Ishimaru T, Ueno SI
- KMID: 2171038
- Clin Psychopharmacol Neurosci.
- 2015 Dec;13(3):324-326.
- doi: 10.9758/cpn.2015.13.3.324
Nasu-Hakola disease (NHD) is a rare autosomal recessive neuropsychiatric disorder characterized by bone cysts, fractures, and cognitive impairment. Two genes are responsible for the development of NHD; TYROBP and TREM2.... -
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- Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing
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Kim MK, Kwak SH, Kang S, Jung HS, Cho YM, Kim SY, Park KS
- KMID: 2174018
- Diabetes Metab J.
- 2015 Oct;39(5):439-443.
- doi: 10.4093/dmj.2015.39.5.439
BACKGROUND: Alstrom syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness. Alstrom syndrome is caused by a mutation in the ALMS1 gene,... -
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- Exome sequencing in a breast cancer family without BRCA mutation
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Noh JM, Kim J, Cho DY, Choi DH, Park W, Huh SJ
- KMID: 2138885
- Radiat Oncol J.
- 2015 Jun;33(2):149-154.
- doi: 10.3857/roj.2015.33.2.149
PURPOSE: We performed exome sequencing in a breast cancer family without BRCA mutations. MATERIALS AND METHODS: A family that three sisters have a history of breast cancer was selected for analysis.... -
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