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gene sequencing

MedGen UID:
1054424
•Concept ID:
CN378577
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Disease or Syndrome

Professional guidelines

PubMed

World Health Organization-defined eosinophilic disorders: 2022 update on diagnosis, risk stratification, and management.
Shomali W, Gotlib J
Am J Hematol 2022 Jan 1;97(1):129-148. Epub 2021 Oct 8 doi: 10.1002/ajh.26352. PMID: 34533850
Genetic evaluation in children with short stature.
Zhou E, Hauser BR, Jee YH
Curr Opin Pediatr 2021 Aug 1;33(4):458-463. doi: 10.1097/MOP.0000000000001033. PMID: 34101704Free PMC Article
International Myeloma Working Group consensus criteria for response and minimal residual disease assessment in multiple myeloma.
Kumar S, Paiva B, Anderson KC, Durie B, Landgren O, Moreau P, Munshi N, Lonial S, Bladé J, Mateos MV, Dimopoulos M, Kastritis E, Boccadoro M, Orlowski R, Goldschmidt H, Spencer A, Hou J, Chng WJ, Usmani SZ, Zamagni E, Shimizu K, Jagannath S, Johnsen HE, Terpos E, Reiman A, Kyle RA, Sonneveld P, Richardson PG, McCarthy P, Ludwig H, Chen W, Cavo M, Harousseau JL, Lentzsch S, Hillengass J, Palumbo A, Orfao A, Rajkumar SV, Miguel JS, Avet-Loiseau H
Lancet Oncol 2016 Aug;17(8):e328-e346. doi: 10.1016/S1470-2045(16)30206-6. PMID: 27511158

Recent clinical studies

Etiology

Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.
Maron JL, Kingsmore S, Gelb BD, Vockley J, Wigby K, Bragg J, Stroustrup A, Poindexter B, Suhrie K, Kim JH, Diacovo T, Powell CM, Trembath A, Guidugli L, Ellsworth KA, Reed D, Kurfiss A, Breeze JL, Trinquart L, Davis JM
JAMA 2023 Jul 11;330(2):161-169. doi: 10.1001/jama.2023.9350. PMID: 37432431Free PMC Article
Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment.
Raraigh KS, Aksit MA, Hetrick K, Pace RG, Ling H, O'Neal W, Blue E, Zhou YH, Bamshad MJ, Blackman SM, Gibson RL, Knowles MR, Cutting GR
J Cyst Fibros 2022 May;21(3):463-470. Epub 2021 Nov 12 doi: 10.1016/j.jcf.2021.10.011. PMID: 34782259
The Genetics of Epilepsy.
Perucca P, Bahlo M, Berkovic SF
Annu Rev Genomics Hum Genet 2020 Aug 31;21:205-230. Epub 2020 Apr 27 doi: 10.1146/annurev-genom-120219-074937. PMID: 32339036
Genetics of coronary artery disease: discovery, biology and clinical translation.
Khera AV, Kathiresan S
Nat Rev Genet 2017 Jun;18(6):331-344. Epub 2017 Mar 13 doi: 10.1038/nrg.2016.160. PMID: 28286336Free PMC Article
Rapidly Growing Mycobacteria.
Brown-Elliott BA, Philley JV
Microbiol Spectr 2017 Jan;5(1) doi: 10.1128/microbiolspec.TNMI7-0027-2016. PMID: 28084211Free PMC Article

Diagnosis

Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.
Maron JL, Kingsmore S, Gelb BD, Vockley J, Wigby K, Bragg J, Stroustrup A, Poindexter B, Suhrie K, Kim JH, Diacovo T, Powell CM, Trembath A, Guidugli L, Ellsworth KA, Reed D, Kurfiss A, Breeze JL, Trinquart L, Davis JM
JAMA 2023 Jul 11;330(2):161-169. doi: 10.1001/jama.2023.9350. PMID: 37432431Free PMC Article
Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment.
Raraigh KS, Aksit MA, Hetrick K, Pace RG, Ling H, O'Neal W, Blue E, Zhou YH, Bamshad MJ, Blackman SM, Gibson RL, Knowles MR, Cutting GR
J Cyst Fibros 2022 May;21(3):463-470. Epub 2021 Nov 12 doi: 10.1016/j.jcf.2021.10.011. PMID: 34782259
Antimicrobial treatment of Corynebacterium striatum invasive infections: a systematic review.
Milosavljevic MN, Milosavljevic JZ, Kocovic AG, Stefanovic SM, Jankovic SM, Djesevic M, Milentijevic MN
Rev Inst Med Trop Sao Paulo 2021;63:e49. Epub 2021 Jun 18 doi: 10.1590/S1678-9946202163049. PMID: 34161555Free PMC Article
Lymphatic malformations.
Manning SC, Perkins J
Curr Opin Otolaryngol Head Neck Surg 2013 Dec;21(6):571-5. doi: 10.1097/MOO.0000000000000007. PMID: 24157637
16S rRNA gene sequencing for bacterial identification in the diagnostic laboratory: pluses, perils, and pitfalls.
Janda JM, Abbott SL
J Clin Microbiol 2007 Sep;45(9):2761-4. Epub 2007 Jul 11 doi: 10.1128/JCM.01228-07. PMID: 17626177Free PMC Article

Therapy

Precision Oncology in Pediatric Cancer Surgery.
Lee WG, Kim ES
Surg Oncol Clin N Am 2024 Apr;33(2):409-446. Epub 2023 Dec 26 doi: 10.1016/j.soc.2023.12.008. PMID: 38401917
Gut microbiota changes and its potential relations with thyroid carcinoma.
Yu X, Jiang W, Kosik RO, Song Y, Luo Q, Qiao T, Tong J, Liu S, Deng C, Qin S, Lv Z, Li D
J Adv Res 2022 Jan;35:61-70. Epub 2021 Apr 8 doi: 10.1016/j.jare.2021.04.001. PMID: 35003794Free PMC Article
Antimicrobial treatment of Corynebacterium striatum invasive infections: a systematic review.
Milosavljevic MN, Milosavljevic JZ, Kocovic AG, Stefanovic SM, Jankovic SM, Djesevic M, Milentijevic MN
Rev Inst Med Trop Sao Paulo 2021;63:e49. Epub 2021 Jun 18 doi: 10.1590/S1678-9946202163049. PMID: 34161555Free PMC Article
Bulleidia extructa: An underappreciated anaerobic pathogen.
Morgan MA, Goldstein EJ
Anaerobe 2021 Jun;69:102339. Epub 2021 Feb 14 doi: 10.1016/j.anaerobe.2021.102339. PMID: 33596467
The effect of antibiotics on the composition of the intestinal microbiota - a systematic review.
Zimmermann P, Curtis N
J Infect 2019 Dec;79(6):471-489. Epub 2019 Oct 18 doi: 10.1016/j.jinf.2019.10.008. PMID: 31629863

Prognosis

Roles of oral microbiota and oral-gut microbial transmission in hypertension.
Chen BY, Lin WZ, Li YL, Bi C, Du LJ, Liu Y, Zhou LJ, Liu T, Xu S, Shi CJ, Zhu H, Wang YL, Sun JY, Liu Y, Zhang WC, Lu HX, Wang YH, Feng Q, Chen FX, Wang CQ, Tonetti MS, Zhu YQ, Zhang H, Duan SZ
J Adv Res 2023 Jan;43:147-161. Epub 2022 Mar 19 doi: 10.1016/j.jare.2022.03.007. PMID: 36585105Free PMC Article
Molecular subtyping of small cell lung cancer.
Liang J, Guan X, Bao G, Yao Y, Zhong X
Semin Cancer Biol 2022 Nov;86(Pt 2):450-462. Epub 2022 May 21 doi: 10.1016/j.semcancer.2022.05.010. PMID: 35609720
Gut microbiota changes and its potential relations with thyroid carcinoma.
Yu X, Jiang W, Kosik RO, Song Y, Luo Q, Qiao T, Tong J, Liu S, Deng C, Qin S, Lv Z, Li D
J Adv Res 2022 Jan;35:61-70. Epub 2021 Apr 8 doi: 10.1016/j.jare.2021.04.001. PMID: 35003794Free PMC Article
Spa Typing of Staphylococcus aureus Isolates.
Wang X
Methods Mol Biol 2020;2069:89-94. doi: 10.1007/978-1-4939-9849-4_6. PMID: 31523767
Tumor Microbiome Diversity and Composition Influence Pancreatic Cancer Outcomes.
Riquelme E, Zhang Y, Zhang L, Montiel M, Zoltan M, Dong W, Quesada P, Sahin I, Chandra V, San Lucas A, Scheet P, Xu H, Hanash SM, Feng L, Burks JK, Do KA, Peterson CB, Nejman D, Tzeng CD, Kim MP, Sears CL, Ajami N, Petrosino J, Wood LD, Maitra A, Straussman R, Katz M, White JR, Jenq R, Wargo J, McAllister F
Cell 2019 Aug 8;178(4):795-806.e12. doi: 10.1016/j.cell.2019.07.008. PMID: 31398337Free PMC Article

Clinical prediction guides

Assessing cross-reactivity in allergen immunotherapy.
Weber RW
Allergy Asthma Proc 2022 Jul 1;43(4):314-321. doi: 10.2500/aap.2022.43.210112. PMID: 35818152
Gut microbiota changes and its potential relations with thyroid carcinoma.
Yu X, Jiang W, Kosik RO, Song Y, Luo Q, Qiao T, Tong J, Liu S, Deng C, Qin S, Lv Z, Li D
J Adv Res 2022 Jan;35:61-70. Epub 2021 Apr 8 doi: 10.1016/j.jare.2021.04.001. PMID: 35003794Free PMC Article
Endometrial microbiota composition is associated with reproductive outcome in infertile patients.
Moreno I, Garcia-Grau I, Perez-Villaroya D, Gonzalez-Monfort M, Bahçeci M, Barrionuevo MJ, Taguchi S, Puente E, Dimattina M, Lim MW, Meneghini G, Aubuchon M, Leondires M, Izquierdo A, Perez-Olgiati M, Chavez A, Seethram K, Bau D, Gomez C, Valbuena D, Vilella F, Simon C
Microbiome 2022 Jan 4;10(1):1. doi: 10.1186/s40168-021-01184-w. PMID: 34980280Free PMC Article
Antimicrobial treatment of Corynebacterium striatum invasive infections: a systematic review.
Milosavljevic MN, Milosavljevic JZ, Kocovic AG, Stefanovic SM, Jankovic SM, Djesevic M, Milentijevic MN
Rev Inst Med Trop Sao Paulo 2021;63:e49. Epub 2021 Jun 18 doi: 10.1590/S1678-9946202163049. PMID: 34161555Free PMC Article
The Genetics of Epilepsy.
Perucca P, Bahlo M, Berkovic SF
Annu Rev Genomics Hum Genet 2020 Aug 31;21:205-230. Epub 2020 Apr 27 doi: 10.1146/annurev-genom-120219-074937. PMID: 32339036

Recent systematic reviews

Antimicrobial treatment of Corynebacterium striatum invasive infections: a systematic review.
Milosavljevic MN, Milosavljevic JZ, Kocovic AG, Stefanovic SM, Jankovic SM, Djesevic M, Milentijevic MN
Rev Inst Med Trop Sao Paulo 2021;63:e49. Epub 2021 Jun 18 doi: 10.1590/S1678-9946202163049. PMID: 34161555Free PMC Article
Endometriosis and the microbiome: a systematic review.
Leonardi M, Hicks C, El-Assaad F, El-Omar E, Condous G
BJOG 2020 Jan;127(2):239-249. Epub 2019 Sep 19 doi: 10.1111/1471-0528.15916. PMID: 31454452
The effect of antibiotics on the composition of the intestinal microbiota - a systematic review.
Zimmermann P, Curtis N
J Infect 2019 Dec;79(6):471-489. Epub 2019 Oct 18 doi: 10.1016/j.jinf.2019.10.008. PMID: 31629863
The vaginal microbiota and its association with human papillomavirus, Chlamydia trachomatis, Neisseria gonorrhoeae and Mycoplasma genitalium infections: a systematic review and meta-analysis.
Tamarelle J, Thiébaut ACM, de Barbeyrac B, Bébéar C, Ravel J, Delarocque-Astagneau E
Clin Microbiol Infect 2019 Jan;25(1):35-47. Epub 2018 May 3 doi: 10.1016/j.cmi.2018.04.019. PMID: 29729331Free PMC Article
Genomic Variants Associated With Cancer-Related Fatigue: A Systematic Review.
Tariman JD, Dhorajiwala S
Clin J Oncol Nurs 2016 Oct 1;20(5):537-46. doi: 10.1188/16.CJON.537-546. PMID: 27668374

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