Clark B - Search Results

1

The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper.

Roy NBA, Da Costa L, Russo R, Bianchi P, Del Mar Mañú-Pereira M, Fermo E, Andolfo I, Clark B, Proven M, Sanchez M, van Wijk R, van der Zwaag B, Layton M, Rees D, Iolascon A. Roy NBA, et al. Among authors: clark b. Hemasphere. 2022 Jun 6;6(6):e739. doi: 10.1097/HS9.0000000000000739. eCollection 2022 Jun. Hemasphere. 2022. PMID: 35686139 Free PMC article. No abstract available.

2

The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper.

Roy NBA, Da Costa L, Russo R, Bianchi P, Mañú-Pereira MDM, Fermo E, Andolfo I, Clark B, Proven M, Sanchez M, van Wijk R, van der Zwaag B, Layton M, Rees D, Iolascon A; British Society for Haematology/ European Hematology Association. Roy NBA, et al. Among authors: clark b. Br J Haematol. 2022 Aug;198(3):459-477. doi: 10.1111/bjh.18191. Epub 2022 Jun 6. Br J Haematol. 2022. PMID: 35661144 No abstract available.

3

Development of a novel test of splenic function for use in a clinical diagnostic laboratory.

Khan AA, Laas CE, Brewin JN, Potter V, Cao H, Vickers MA, Clark B, Rees DC. Khan AA, et al. Among authors: clark b. Br J Haematol. 2025 Jan;206(1):320-330. doi: 10.1111/bjh.19950. Epub 2024 Dec 10. Br J Haematol. 2025. PMID: 39658245

4

Improving the laboratory diagnosis of pyruvate kinase deficiency.

Laas C, Lambert C, Senior McKenzie T, Sheldon E, Davidson P, Rees D, Clark B. Laas C, et al. Among authors: clark b. Br J Haematol. 2021 Jun;193(5):994-1000. doi: 10.1111/bjh.17483. Epub 2021 May 2. Br J Haematol. 2021. PMID: 33937978

5

A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report.

Sivashangar A, Gooneratne L, Clark B, Rees D, Jayasinghe S, Laas C. Sivashangar A, et al. Among authors: clark b. J Med Case Rep. 2021 Jul 27;15(1):374. doi: 10.1186/s13256-021-02972-6. J Med Case Rep. 2021. PMID: 34311792 Free PMC article.

6

Next generation sequencing identifies a novel rearrangement in the HBB cluster permitting to-the-base characterization.

Shooter C, Rooks H, Thein SL, Clark B. Shooter C, et al. Among authors: clark b. Hum Mutat. 2015 Jan;36(1):142-50. doi: 10.1002/humu.22707. Hum Mutat. 2015. PMID: 25331561

7

Next-generation sequencing as a tool for breakpoint analysis in rearrangements of the globin gene clusters.

Clark BE, Shooter C, Smith F, Brawand D, Thein SL. Clark BE, et al. Int J Lab Hematol. 2017 May;39 Suppl 1:111-120. doi: 10.1111/ijlh.12680. Int J Lab Hematol. 2017. PMID: 28447426 Review.

8

A patient with the rare alpha-1-antitrypsin variant (Z)bristol in compound heterozygosity with the Z mutation.

Bates KJ, Puxley M, Hill M, Kalsheker N, Barlow A, Clark BE, Sherwood RA. Bates KJ, et al. Among authors: clark be. Ann Clin Biochem. 2013 Nov;50(Pt 6):618-21. doi: 10.1177/0004563213484303. Epub 2013 Jul 15. Ann Clin Biochem. 2013. PMID: 23858502

9

A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders.

Cutts A, Vavoulis DV, Petrou M, Smith F, Clark B, Henderson S, Schuh A. Cutts A, et al. Among authors: clark b. Blood. 2019 Oct 3;134(14):1190-1193. doi: 10.1182/blood.2019002099. Epub 2019 Aug 23. Blood. 2019. PMID: 31444163 Free PMC article. No abstract available.

10

Two novel mutations (HBG1: c.-250C > T and HBG2: c.-250C > T) associated with hereditary persistence of fetal hemoglobin.

Toma S, Tenorio M, Oakley M, Thein SL, Clark BE. Toma S, et al. Hemoglobin. 2014;38(1):67-9. doi: 10.3109/03630269.2013.848365. Epub 2013 Oct 21. Hemoglobin. 2014. PMID: 24144231

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