227 related articles for article (PubMed ID: 34573280)
1. Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A; Miano M; Lanciotti M; Fioredda F; Guardo D; Palmisani E; Terranova P; Santamaria G; Caroli F; Caorsi R; Volpi S; Gattorno M; Dufour C; Ceccherini I
Genes (Basel); 2021 Aug; 12(9):. PubMed ID: 34573280
[TBL] [Abstract][Full Text] [Related]
2. Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Elsink K; Huibers MMH; Hollink IHIM; Simons A; Zonneveld-Huijssoon E; van der Veken LT; Leavis HL; Henriet SSV; van Deuren M; van de Veerdonk FL; Potjewijd J; Berghuis D; Dalm VASH; Vermont CL; van de Ven AAJM; Lambeck AJA; Abbott KM; van Hagen PM; de Bree GJ; Kuijpers TW; Frederix GWJ; van Gijn ME; van Montfrans JM;
Front Immunol; 2021; 12():780134. PubMed ID: 34992599
[TBL] [Abstract][Full Text] [Related]
3. Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE; Meshaal SS; Abd Elaziz DS; Alkady R; Lotfy S; Eldash A; Erfan A; Chohayeb EA; Saad MM; Darwish RK; Boutros JA; Galal NM; Elmarsafy AM
J Clin Immunol; 2022 Jul; 42(5):1051-1070. PubMed ID: 35482138
[TBL] [Abstract][Full Text] [Related]
4. Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.
Segura-Tudela A; López-Nevado M; Nieto-López C; García-Jiménez S; Díaz-Madroñero MJ; Delgado Á; Cabrera-Marante O; Pleguezuelo D; Morales P; Paz-Artal E; Gil-Niño J; Marco FM; Serrano C; González-Granado LI; Quesada-Espinosa JF; Allende LM
J Clin Immunol; 2024 Feb; 44(3):61. PubMed ID: 38363452
[TBL] [Abstract][Full Text] [Related]
5. Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H; Farwell KD; Vuong H; Lu HM; Mu W; Shahmirzadi L; Tang S; Chen J; Bhide S; Chao EC
PLoS One; 2017; 12(2):e0170843. PubMed ID: 28152038
[TBL] [Abstract][Full Text] [Related]
6. Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.
Pupavac M; Tian X; Chu J; Wang G; Feng Y; Chen S; Fenter R; Zhang VW; Wang J; Watkins D; Wong LJ; Rosenblatt DS
Mol Genet Metab; 2016 Mar; 117(3):363-8. PubMed ID: 26827111
[TBL] [Abstract][Full Text] [Related]
7. Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S; Vázquez-Mosquera ME; González-Vioque E; Álvarez JV; Chans R; Laranjeira F; Martins E; Ferreira AC; Avila-Alvarez A; Couce ML
Genes (Basel); 2021 Aug; 12(8):. PubMed ID: 34440436
[TBL] [Abstract][Full Text] [Related]
8. Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing.
Karimi E; Mahmoudian F; Reyes SOL; Bargir UA; Madkaikar M; Artac H; Sabzevari A; Lu N; Azizi G; Abolhassani H
Mol Immunol; 2021 Sep; 137():57-66. PubMed ID: 34216999
[TBL] [Abstract][Full Text] [Related]
9. Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains.
Wan R; Schieck M; Caballero-Oteyza A; Hofmann W; Cochino AV; Shcherbina A; Sherkat R; Wache-Mainier C; Fernandez A; Sultan M; Illig T; Grimbacher B; Proietti M; Steinemann D
J Clin Immunol; 2022 Jul; 42(5):1083-1092. PubMed ID: 35486341
[TBL] [Abstract][Full Text] [Related]
10. Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs).
Peng XP; Al-Ddafari MS; Caballero-Oteyza A; El Mezouar C; Mrovecova P; Dib SE; Massen Z; Smahi MC; Faiza A; Hassaïne RT; Lefranc G; Aribi M; Grimbacher B
Clin Immunol; 2023 Nov; 256():109758. PubMed ID: 37678716
[TBL] [Abstract][Full Text] [Related]
11. Current genetic diagnostics in inborn errors of immunity.
von Hardenberg S; Klefenz I; Steinemann D; Di Donato N; Baumann U; Auber B; Klemann C
Front Pediatr; 2024; 12():1279112. PubMed ID: 38659694
[TBL] [Abstract][Full Text] [Related]
12. Genetic Mosaicism as a Cause of Inborn Errors of Immunity.
Aluri J; Cooper MA
J Clin Immunol; 2021 May; 41(4):718-728. PubMed ID: 33864184
[TBL] [Abstract][Full Text] [Related]
13. Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.
Engelbrecht C; Urban M; Schoeman M; Paarwater B; van Coller A; Abraham DR; Cornelissen H; Glashoff R; Esser M; Möller M; Kinnear C; Glanzmann B
Front Immunol; 2021; 12():665621. PubMed ID: 34093558
[TBL] [Abstract][Full Text] [Related]
14. Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh A; Schlecht H; Heptinstall LE; Bassett JK; Cartwright E; Bhaskar SS; Urquhart J; Broomfield A; Morris AA; Jameson E; Schwahn BC; Walter JH; Douzgou S; Murphy H; Hendriksz C; Sharma R; Wilcox G; Crushell E; Monavari AA; Martin R; Doolan A; Senniappan S; Ramsden SC; Jones SA; Banka S
Arch Dis Child; 2017 Nov; 102(11):1019-1029. PubMed ID: 28468868
[TBL] [Abstract][Full Text] [Related]
15. Screening for inborn errors of metabolism in psychotic patients using Next Generation Sequencing.
van de Burgt N; van Koningsbruggen S; Behrens L; Leibold N; Martinez-Martinez P; Mannens M; van Amelsvoort T
J Psychiatr Res; 2021 Jun; 138():125-129. PubMed ID: 33848968
[TBL] [Abstract][Full Text] [Related]
16. Next-generation sequencing for inborn errors of immunity.
Lee K; Abraham RS
Hum Immunol; 2021 Nov; 82(11):871-882. PubMed ID: 33715910
[TBL] [Abstract][Full Text] [Related]
17. Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity.
Okano T; Imai K; Naruto T; Okada S; Yamashita M; Yeh TW; Ono S; Tanaka K; Okamoto K; Tanita K; Matsumoto K; Toyofuku E; Kumaki-Matsumoto E; Okamura M; Ueno H; Ogawa S; Ohara O; Takagi M; Kanegane H; Morio T
J Clin Immunol; 2020 Jul; 40(5):729-740. PubMed ID: 32506361
[TBL] [Abstract][Full Text] [Related]
18. Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
Al-Shamsi A; Hertecant JL; Souid AK; Al-Jasmi FA
Orphanet J Rare Dis; 2016 Jul; 11(1):94. PubMed ID: 27391121
[TBL] [Abstract][Full Text] [Related]
19. Genetic screening in a Brazilian cohort with inborn errors of immunity.
Ferreira CS; Francisco Junior RDS; Gerber AL; Guimarães APC; de Carvalho FAA; Dos Reis BCS; Pinto-Mariz F; de Souza MS; de Vasconcelos ZFM; Goudouris ES; Vasconcelos ATR
BMC Genom Data; 2023 Aug; 24(1):47. PubMed ID: 37592284
[TBL] [Abstract][Full Text] [Related]
20. Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Bacquet J; Stojkovic T; Boyer A; Martini N; Audic F; Chabrol B; Salort-Campana E; Delmont E; Desvignes JP; Verschueren A; Attarian S; Chaussenot A; Delague V; Levy N; Bonello-Palot N
BMJ Open; 2018 Oct; 8(10):e021632. PubMed ID: 30373780
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
