Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón +10 more
wiley +1 more source
Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis. [PDF]
J Clin ImmunolLee JK +8 more
europepmc +1 more source
Elements of genetic counseling for inborn errors of metabolism
, 2019 Natalie Beck, Carolyn Applegate
openalex +2 more sources
Toll-like Receptors in Inborn Errors of Immunity in Children: Diagnostic Potential and Therapeutic Frontiers-A Review of the Latest Data. [PDF]
CellsJurczuk A +4 more
europepmc +1 more source
Inborn errors of IL-6 family cytokine responses
Current Opinion in Immunology, 2021 Yin-Huai Chen +4 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson +3 more
wiley +1 more source
Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience. [PDF]
J Clin MedDeudero A +18 more
europepmc +1 more source
Clinical and laboratory approach to a neonate suspected of an inborn error of metabolism
, 1999 Ellen S. Kang
openalex +1 more source
Cystinuria: an inborn cause of urolithiasis [PDF]
, 2012 Thomas Eggermann +2 more
openalex +1 more source