[HTML][HTML] Clinical exome sequencing of 1000 families with complex immune phenotypes: toward comprehensive genomic evaluations
Background Prospective genetic evaluation of patients at our referral research hospital
presents clinical research challenges. Objective This study sought not only a single-gene …
presents clinical research challenges. Objective This study sought not only a single-gene …
Guideline for feedback of individual genetic research findings for genomics research in Africa
A Matimba, S Ali, K Littler, E Madden, P Marshall… - BMJ Global …, 2022 - gh.bmj.com
As human genomics research in Africa continues to generate large amounts of data, ethical
issues arise regarding how actionable genetic information is shared with research …
issues arise regarding how actionable genetic information is shared with research …
Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 …
T Alix, C Chéry, T Josse, JP Bronowicki, F Feillet… - Human Genomics, 2023 - Springer
Background Clinical exome sequencing (CES) provides a comprehensive and effective
analysis of relevant disease-associated genes in a cost-effective manner compared to whole …
analysis of relevant disease-associated genes in a cost-effective manner compared to whole …
A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia
CT Chear, BAK El Farran, M Sham, K Ramalingam… - Genes, 2022 - mdpi.com
Background: Inborn errors of immunity (IEIs) are comprised of heterogeneous groups of
genetic disorders affecting immune function. In this report, a 17-month-old Malay patient …
genetic disorders affecting immune function. In this report, a 17-month-old Malay patient …
Diagnostic yield of next-generation sequencing in suspect primary immunodeficiencies diseases: a systematic review and meta-analysis
Y Chen, D Li, J Yin, J Xiong, M Xu, Q Qi… - Clinical and Experimental …, 2024 - Springer
To determine the diagnostic yield of Next-generation sequencing (NGS) in suspect Primary
Immunodeficiencies Diseases (PIDs). This systematic review was conducted following …
Immunodeficiencies Diseases (PIDs). This systematic review was conducted following …
Peripheral‐blood cytopenia, an early indicator of inborn errors of immunity
HM Cornelissen, EM Musekwa… - British Journal of …, 2022 - Wiley Online Library
Inborn errors of immunity (IEI) are inherited monogenic disorders resulting in defective
immune response. Non‐infectious presentations are increasingly more apparent. Widely …
immune response. Non‐infectious presentations are increasingly more apparent. Widely …
Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs)
XP Peng, MS Al-Ddafari, A Caballero-Oteyza… - Clinical …, 2023 - Elsevier
The advent of next-generation sequencing (NGS) technologies has greatly expanded our
understanding of both the clinical spectra and genetic landscape of inborn errors of …
understanding of both the clinical spectra and genetic landscape of inborn errors of …
Genetic diagnosis of inborn errors of immunity using clinical exome sequencing
SS Kwon, YK Cho, S Hahn, J Oh, D Won… - Frontiers in …, 2023 - frontiersin.org
Inborn errors of immunity (IEI) include a variety of heterogeneous genetic disorders in which
defects in the immune system lead to an increased susceptibility to infections and other …
defects in the immune system lead to an increased susceptibility to infections and other …
Genetic causes, clinical features, and survival of underlying inborn errors of immunity in omani patients: a single-center study
S Al-Tamemi, S Al-Zadjali, Z Bruwer… - Journal of Clinical …, 2023 - Springer
Purpose Early identification of inborn errors of immunity (IEIs) is crucial due to the significant
risk of morbidity and mortality. This study aimed to describe the genetic causes, clinical …
risk of morbidity and mortality. This study aimed to describe the genetic causes, clinical …
Development of a coding SNP panel for tracking the origin of whole-exome sequencing samples
Y Huang, Y Xiao, S Qu, J Xue, L Zhang, L Wang… - BMC genomics, 2024 - Springer
Whole-exome sequencing (WES) is widely used to diagnose complex genetic diseases and
rare conditions. The implementation of a robust and effective quality control system for …
rare conditions. The implementation of a robust and effective quality control system for …