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gene sequencing

MedGen UID:
1054424
•Concept ID:
CN378577
•
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

Gut microbiota and allergic diseases in children.
Akagawa S, Kaneko K
Allergol Int 2022 Jul;71(3):301-309. Epub 2022 Mar 18 doi: 10.1016/j.alit.2022.02.004. PMID: 35314107
Pathogenic Aspects of Inherited Platelet Disorders.
Boeckelmann D, Glonnegger H, Sandrock-Lang K, Zieger B
Hamostaseologie 2021 Dec;41(6):460-468. Epub 2021 Dec 23 doi: 10.1055/a-1665-6249. PMID: 34942659
Ocular Surface Microbiome in Health and Disease.
Gomes JÁP, Frizon L, Demeda VF
Asia Pac J Ophthalmol (Phila) 2020 Dec;9(6):505-511. doi: 10.1097/APO.0000000000000330. PMID: 33323705
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

Diagnosis

Sanger and Next-Generation Sequencing of AAT.
Barzon V, Ferrarotti I, Ottaviani S
Methods Mol Biol 2024;2750:57-67. doi: 10.1007/978-1-0716-3605-3_6. PMID: 38108967
Esophageal cancer and bacterial part of gut microbiota - A multidisciplinary point of view.
Muszyński D, Kudra A, Sobocki BK, Folwarski M, Vitale E, Filetti V, Dudzic W, Kaźmierczak-Siedlecka K, Połom K
Front Cell Infect Microbiol 2022;12:1057668. Epub 2022 Nov 16 doi: 10.3389/fcimb.2022.1057668. PMID: 36467733Free PMC Article
Toward more streamlined testing in pediatric oncology.
Walsh MF
Sci Adv 2022 Apr 22;8(16):eabq2807. Epub 2022 Apr 20 doi: 10.1126/sciadv.abq2807. PMID: 35442743Free PMC Article
Pathogenic Aspects of Inherited Platelet Disorders.
Boeckelmann D, Glonnegger H, Sandrock-Lang K, Zieger B
Hamostaseologie 2021 Dec;41(6):460-468. Epub 2021 Dec 23 doi: 10.1055/a-1665-6249. PMID: 34942659
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

Therapy

Physical activity, sedentary behavior and microbiome: A systematic review and meta-analysis.
Pérez-Prieto I, Plaza-Florido A, Ubago-Guisado E, Ortega FB, Altmäe S
J Sci Med Sport 2024 Nov;27(11):793-804. Epub 2024 Jul 9 doi: 10.1016/j.jsams.2024.07.003. PMID: 39048485
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
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
PARP inhibition in castration-resistant prostate cancer.
Nappi L, Gleave ME
Future Oncol 2016 Mar;12(5):577-80. Epub 2016 Jan 21 doi: 10.2217/fon.16.1. PMID: 26792387
FAP neuropathy and emerging treatments.
Adams D, Théaudin M, Cauquil C, Algalarrondo V, Slama M
Curr Neurol Neurosci Rep 2014 Mar;14(3):435. doi: 10.1007/s11910-013-0435-3. PMID: 24482069

Prognosis

Clinical features, genomic profiling, and outcomes of adult patients with unifocal Langerhans cell histiocytosis.
Lang M, Cai HC, Lin H, Chang L, Dai JW, Chen J, Duan MH, Zhou DB, Goyal G, Cao XX
Orphanet J Rare Dis 2023 Nov 30;18(1):372. doi: 10.1186/s13023-023-02989-8. PMID: 38037140Free 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
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
Sepsis Diagnostics in the Era of "Omics" Technologies.
Průcha M, Zazula R, Russwurm S
Prague Med Rep 2018;119(1):9-29. doi: 10.14712/23362936.2018.2. PMID: 29665344
The gut microbiota in IBD.
Manichanh C, Borruel N, Casellas F, Guarner F
Nat Rev Gastroenterol Hepatol 2012 Oct;9(10):599-608. Epub 2012 Aug 21 doi: 10.1038/nrgastro.2012.152. PMID: 22907164

Clinical prediction guides

Clinical features, genomic profiling, and outcomes of adult patients with unifocal Langerhans cell histiocytosis.
Lang M, Cai HC, Lin H, Chang L, Dai JW, Chen J, Duan MH, Zhou DB, Goyal G, Cao XX
Orphanet J Rare Dis 2023 Nov 30;18(1):372. doi: 10.1186/s13023-023-02989-8. PMID: 38037140Free PMC Article
The airway microbiota of neonates colonized with asthma-associated pathogenic bacteria.
Thorsen J, Li XJ, Peng S, Sunde RB, Shah SA, Bhattacharyya M, Poulsen CS, Poulsen CE, Leal Rodriguez C, Widdowson M, Neumann AU, Trivedi U, Chawes B, Bønnelykke K, Bisgaard H, Sørensen SJ, Stokholm J
Nat Commun 2023 Oct 20;14(1):6668. doi: 10.1038/s41467-023-42309-z. PMID: 37863895Free PMC Article
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
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
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

Non-culture-based studies of the appendiceal microbiota: a systematic review.
Antonsen J, Winther-Jensen M, Krogsbøll LT, Jess T, Jorgensen LN, Allin KH
Future Microbiol 2023 Feb;18:205-216. Epub 2023 Mar 14 doi: 10.2217/fmb-2022-0194. PMID: 36916537
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
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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    Clinical resources

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