Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment
MC Nurchis, G Altamura, MT Riccardi, FC Radio… - Archives of Public …, 2023 - Springer
Background About 80% of the roughly 7,000 known rare diseases are single gene
disorders, about 85% of which are ultra-rare, affecting less than one in one million …
disorders, about 85% of which are ultra-rare, affecting less than one in one million …
Genetic testing in Egyptian patients with inborn errors of immunity: a single-center experience
RE El Hawary, SS Meshaal, DS Abd Elaziz… - Journal of Clinical …, 2022 - Springer
Background Inborn errors of immunity (IEI) are a group of heterogeneous disorders with
geographic and ethnic diversities. Although IEI are common in Egypt, genetic diagnosis is …
geographic and ethnic diversities. Although IEI are common in Egypt, genetic diagnosis is …
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 …
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 …
Revealing chronic granulomatous disease in a patient with williams-beuren syndrome using whole exome sequencing
AM Ripen, MY Chiow, PR Rama Rao… - Frontiers in …, 2021 - frontiersin.org
Blended phenotypes exhibited by a patient may present a challenge to the establishment of
diagnosis. In this study, we report a seven-year-old Murut girl with unusual features of …
diagnosis. In this study, we report a seven-year-old Murut girl with unusual features of …
Visual inspection reveals a novel pathogenic mutation in PKD1 missed by the variant caller in whole‑exome sequencing
BT Koay, MY Chiow, J Ismail… - Molecular …, 2022 - spandidos-publications.com
Autosomal dominant polycystic kidney disease (ADPKD) is the most common type of
inherited cystic kidney disease. The feasibility of whole‑exome sequencing (WES) to obtain …
inherited cystic kidney disease. The feasibility of whole‑exome sequencing (WES) to obtain …
Clinical & Experimental Immunology: Highlights of 2020
LS Taams, RS Taylor - Clinical & Experimental Immunology, 2021 - academic.oup.com
Against the backdrop of the global coronavirus disease (COVID-19) pandemic in the past
year we have seen huge changes to the way we communicate and share research, not just …
year we have seen huge changes to the way we communicate and share research, not just …
Primary Immunodeficiency Disease in Malaysia: Where Are We Now?
Abstract Primary Immunodeficiency Diseases (PIDs), also called Inborn Errors of Immunity
(IEI), are a group of diseases caused by a single gene defect affecting the differentiation or …
(IEI), are a group of diseases caused by a single gene defect affecting the differentiation or …