S. McQuaid

发表

Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and Ireland.

W. Grody, S. Patton, Z. Deans, 2006, Genetic testing.

Diagnostic DHPLC Quality Assurance (DDQA): A collaborative approach to the generation of validated and standardized methods for DHPLC‐based mutation screening in clinical genetics laboratories

E. Dequeker, G. Matthijs, G. Michils, 2005, Human mutation.

Transcriptional activation of the glutathione S-transferase pi gene in human ureteric and bladder carcinomas.

A. O'brien, M. Butler, S. McQuaid, 1988, Cancer letters.

Long-term dosing studies using mutagenic carcinogens indicate a highly significant correlation between elevations in the level of rat glutathione S-transferase P messenger RNA and liver tumours of hepatocellular origin.

M. Kelly, S. McQuaid, S. Russell, 1988, The Biochemical journal.

Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC

N. Freimer, R. Sinke, D. Barton, 1999, Human Genetics.

Quality assurance of novel diagnostic technologies: a collaborative effort towards the generation of "generic SOPs" for DHPLC analysis

E. Dequeker, G. Matthijs, G. Michils, 2003 .

A novel mutation and novel features in Nijmegen breakage syndrome

A. Green, E. Shoubridge, A. Munnich, 2001, Journal of medical genetics.

Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

Richard J. Thompson, N. Freimer, L. Pawlikowska, 2010, Journal of hepatology.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders

V. Biancalana, P. Steinbach, S. McQuaid, 2014, European Journal of Human Genetics.

Observations on the structure of two human 7SK pseudogenes and on homologous transcripts in vertebrate species.

P. Humphries, M. Humphries, P. McWilliam, 1987, The Biochemical journal.

Observations on the transcriptional activity of the glutathione S-transferase pi gene in human haematological malignancies and in the peripheral leucocytes of cancer patients under chemotherapy.

E. Lawlor, S. McCann, P. Daly, 1989, British Journal of Cancer.

Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland

D. Barton, C. Férec, M. Audrézet, 2003, Human mutation.

“True” sporadic ALS associated with a novel SOD‐1 mutation

Orla Hardiman, O. Hardiman, B. Traynor, 2002, Annals of neurology.

Typical Friedreich's ataxia without GAA expansions and GAA expansions without typical Friedreich's ataxia

D. Barton, M. King, A. Kelly, 2000, Journal of Neurology.

Association of foreign DNA with porcine spermatozoa.

F. Gannon, R. Powell, J. Houghton, 1991, Archives of andrology.

Analysis of transcripts homologous to acyl-CoA oxidase and enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase induced in rat liver by methylclofenapate.

C. Elcombe, S. McQuaid, S. Russell, 1987, Cancer letters.

8th Meeting of the Irish Society of Human Genetics, Monday 19th September 2005

M. Gill, S. Ennis, N. Miller, 2006, Ulster medical journal.

Fluorescent sequencing protocols for the ALF.

S. McQuaid, 2001, Methods in molecular biology.