1.
Br J Haematol
; 198(4): 654-667, 2022 08.
Article
in English
| MEDLINE
| ID: mdl-35687716
2.
Haemophilia
; 25(1): 116-126, 2019 Jan.
Article
in English
| MEDLINE
| ID: mdl-30664826
ABSTRACT
This paper sets out good practice for clinicians involved in interpreting variant reports for patients with inherited bleeding disorders. It is aimed primarily at doctors, nurses and allied healthcare professionals who may not have had specific training in genetic testing methodology or reporting. It deals with uncertainty in classification of variant pathogenicity and the handling of incidental findings.
Subject(s)
Blood Coagulation Disorders, Inherited/diagnosis , Genetic Testing , Blood Coagulation Disorders, Inherited/genetics , Breath Tests , Chromosome Aberrations , Genotype , Humans , Mosaicism , Pedigree , Phenotype , Uncertainty , United Kingdom
3.
Br J Haematol
; 133(2): 214-6, 2006 Apr.
Article
in English
| MEDLINE
| ID: mdl-16611318