- Exome Sequencing in Mendelian Disorders
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Lee JK
- KMID: 2184476
- J Genet Med.
- 2010 Dec;7(2):119-124.
More than 7,000 rare Mendelian diseases have been reported, but less than half of all rare monogenic disorders has been discovered. In addition, the majority of mutations that are known... -
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- Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases
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Goh G, Choi M
- KMID: 2053299
- Genomics Inform.
- 2012 Dec;10(4):214-219.
- doi: 10.5808/GI.2012.10.4.214
The recent advent of next-generation sequencing technologies has dramatically changed the nature of biomedical research. Human genetics is no exception-it has never been easier to interrogate human patient genomes at... -
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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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- Clinical genetics of defects in thyroid hormone synthesis
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Kwak MJ
- KMID: 2432279
- Ann Pediatr Endocrinol Metab.
- 2018 Dec;23(4):169-175.
- doi: 10.6065/apem.2018.23.4.169
Thyroid dyshormonogenesis is characterized by impairment in one of the several stages of thyroid hormone synthesis and accounts for 10%–15% of congenital hypothyroidism (CH). Seven genes are known to be... -
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- 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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- Bioinformatics Interpretation of Exome Sequencing: Blood Cancer
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Kim J, Lee YG, Kim N
- KMID: 1806267
- Genomics Inform.
- 2013 Mar;11(1):24-33.
- doi: 10.5808/GI.2013.11.1.24
We had analyzed 10 exome sequencing data and single nucleotide polymorphism chips for blood cancer provided by the PGM21 (The National Project for Personalized Genomic Medicine) Award program. We had... -
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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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- 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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- Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing
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Ko J, Lee HJ, Lee JS, Yoon JS
- KMID: 2418951
- Yonsei Med J.
- 2017 Sep;58(5):1078-1080.
- doi: 10.3349/ymj.2017.58.5.1078
A 3-year-old girl presented with congenital orbital fibrosis. We performed molecular genetic analysis by whole exome and mitochondrial genome sequencing. No pathologic mutation was identified in the present case. To... -
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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 of a Patient with Duchenne Muscular Dystrophy
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Choi BS, Hwang SK
- KMID: 2329273
- J Korean Child Neurol Soc.
- 2014 Mar;22(1):25-28.
Duchenne muscular dystrophy (DMD) is the most common and lethal dystrophy in childhood, caused by mutations in the dystrophin (DMD) gene. Multiplex ligation dependent probe amplification (MLPA) or array comparative... -
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- Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing
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Jeon GW, Lee MN, Jung JM, Hong SY, Kim YN, Sin JB, Ki CS
- KMID: 1791906
- Ann Lab Med.
- 2014 Mar;34(2):134-138.
- doi: 10.3343/alm.2014.34.2.134
BACKGROUND: Atelosteogenesis type I (AO-I) is a rare lethal skeletal dysplastic disorder characterized by severe short-limbed dwarfism and dislocated hips, knees, and elbows. AO-I is caused by mutations in the... -
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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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- 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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- 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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- Kabuki syndrome: clinical and molecular characteristics
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Cheon CK, Ko JM
- KMID: 2284511
- Korean J Pediatr.
- 2015 Sep;58(9):317-324.
- doi: 10.3345/kjp.2015.58.9.317
Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies,... -
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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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- 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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- Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants
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Kim K, Seong MW, Chung WH, Park SS, Leem S, Park W, Kim J, Lee K, Park RW, Kim N
- KMID: 2009144
- Genomics Inform.
- 2015 Jun;13(2):31-39.
- doi: 10.5808/GI.2015.13.2.31
Sequencing depth, which is directly related to the cost and time required for the generation, processing, and maintenance of next-generation sequencing data, is an important factor in the practical utilization... -
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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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