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P. Mayne · SciRah

Researcher profile · Semantic Scholar

P. Mayne

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P. Mayne — researcher profile on SciRah

h-index: 20
Works: 73
Citations: 2,049

Most-cited papers

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
D. McHugh, C. Cameron, J. Abdenur, M. Abdulrahman +242 more
2011Genetics in Medicine338 citations Open access
Semantic Scholar
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
A. Morris, V. Kožich, S. Santra, G. Andria +19 more
2016Journal of Inherited Metabolic Disease307 citations Open access
Semantic Scholar
Impact of the MTHFR C677T polymorphism on risk of neural tube defects: case-control study
P. Kirke, J. Mills, A. Molloy, L. Brody +7 more
2004British medical journal145 citations Open access
Semantic Scholar
Methylenetetrahydrofolate reductase thermolabile variant and oral clefts.
James L. Mills, Peadar N. Kirke, Anne M. Molloy, Helen Burke +5 more
1999American journal of medical genetics144 citations
Semantic Scholar
Newborn screening for homocystinuria: Irish and world experience
E. Naughten, S. Yap, P. Mayne
1998European Journal of Pediatrics124 citations
Semantic Scholar
Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment
K. Coss, P. Doran, C. Owoeye, M. Codd +6 more
2013Journal of Inherited Metabolic Disease103 citations
Semantic Scholar
Plasma alkaline phosphatase activity: a screening test for rickets in preterm neonates.
I. Kovar, P. Mayne, D. Barltrop
1982The Lancet93 citations
Semantic Scholar
N-terminal pro-B-type natriuretic peptide: a measure of significant patent ductus arteriosus
I. Farombi-Oghuvbu, T. Matthews, P. Mayne, H. Guérin +1 more
2007Archives of Disease in Childhood: Fetal and Neonatal Edition76 citations Open access
Semantic Scholar
Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers
M. Murphy, B. McHugh, O. Tighe, P. Mayne +3 more
1999European Journal of Human Genetics75 citations
Semantic Scholar
Genetic Hemochromatosis, a Celtic Disease: Is It Now Time for Population Screening?
V. Byrnes, E. Ryan, S. Barrett, P. Kenny +2 more
2001Genetic Testing70 citations
Semantic Scholar
Incidence of Congenital Hypothyroidism Over 37 Years in Ireland
N. McGrath, C. Hawkes, C. McDonnell, D. Cody +3 more
2018Pediatrics62 citations Open access
Semantic Scholar
Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28
W. Reardon, V. Donoghue, A. Murphy, M. King +3 more
2010European Journal of Pediatrics54 citations
Semantic Scholar
Optimal Timing of Repeat Newborn Screening for Congenital Hypothyroidism in Preterm Infants to Detect Delayed Thyroid‐Stimulating Hormone Elevation
N. McGrath, C. Hawkes, P. Mayne, N. Murphy
2019Jornal de Pediatria51 citations
Semantic Scholar
Can Neonatal TSH Screening Reflect Trends in Population Iodine Intake?
R. Burns, P. Mayne, C. O'Herlihy, Derek F. Smith +3 more
2008Thyroid48 citations
Semantic Scholar
Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency
P. Fitzsimons, C. Alston, P. Bonnen, J. Hughes +13 more
2018American Journal of Medical Genetics. Part A44 citations Open access
Semantic Scholar
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe
O. Tighe, Donncha S. Dunican, C. O'Neill, G. Bertorelle +24 more
2003Human Mutation34 citations Open access
Semantic Scholar
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency
J. Krijt, J. Kopecká, A. Hnízda, S. Moat +3 more
2010Journal of Inherited Metabolic Disease33 citations Open access
Semantic Scholar
The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations
Jonathan M. Flanagan, G. McMahon, S. H. Brendan Chia, P. Fitzpatrick +18 more
2010Heredity22 citations Open access
Semantic Scholar
Maple Syrup Urine Disease (MSUD): Clinical outcomes, metabolic control and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.
Daniel O'Reilly, E. Crushell, J. Hughes, S. Ryan +14 more
2020Journal of Inherited Metabolic Disease20 citations
Semantic Scholar
The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited
K. O'Donnell, C. O'Neill, O. Tighe, G. Bertorelle +3 more
2002European Journal of Human Genetics20 citations Open access
Semantic Scholar
Negative screening tests in classical galactosaemia caused by S135L homozygosity
E. Crushell, J. Chukwu, P. Mayne, J. Blatný +1 more
2009Journal of Inherited Metabolic Disease18 citations
Semantic Scholar
PLASMA ALKALINE PHOSPHATASE ACTIVITY IN THE PRETERM NEONATE
I. Kovar, P. Mayne
1981Acta Paediatrica Scandinavica18 citations
Semantic Scholar
Factor V Leiden (Arg506Gln), a Confounding Genetic Risk Factor but not Mandatory for the Occurrence of Venous Thromboembolism in Homozygotes and Obligate Heterozygotes for Cystathionine β-synthase Deficiency
Sufin Yap, K. A. O'Donnell, C. O'Neill, P. Mayne +2 more
1999Thrombosis and Haemostasis16 citations
Semantic Scholar
Vitamin D Status in Irish Children and Adolescents
A. Carroll, C. Onwuneme, M. McKenna, P. Mayne +2 more
2014La Clinica pediatrica12 citations
Semantic Scholar
l-2-Hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration
S. Saidha, Sinéad M. Murphy, P. Mccarthy, P. Mayne +1 more
2009Journal of Neurology12 citations
Semantic Scholar
Permanent Decompensated Congenital Hypothyroidism in Newborns with Whole-Blood Thyroid-Stimulating Hormone Concentrations between 8 and 10 mU/L: The Case for Lowering the Threshold
N. McGrath, C. Hawkes, P. Mayne, N. Murphy
2018Hormone Research in Paediatrics11 citations
Semantic Scholar
Integrin αIIbβ3 exists in an activated state in subjects with elevated plasma homocysteine levels
S. McGarrigle, S. O'Neill, Geraldine M. Walsh, N. Moran +5 more
2011Platelets9 citations
Semantic Scholar
Mitochondrial cytopathies, phenotypic heterogeneity and a high incidence.
E. Ryan, Mary D. King, P. Rustin, P. Mayne +4 more
2006Irish medical journal9 citations
Semantic Scholar
Further evidence that d-glycerate kinase (GK) deficiency is a benign disorder.
A. Kalim, P. Fitzsimons, C. Till, Malkanthi Fernando +3 more
2017Brain & development (Tokyo. 1979)8 citations
Semantic Scholar
Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake
O. Purcell, A. Coughlan, T. Grant, J. McNulty +7 more
2017Journal of Nutrition and Metabolism7 citations Open access
Semantic Scholar
Homocysteine in assisted reproduction: Does oestradiol influence homocysteine levels?
R. Roopnarinesingh, B. Jackson, Z. Osman, R. Harrison +1 more
2006Journal of Obstetrics and Gynaecology Research6 citations
Semantic Scholar
Prevalence of the factor VR506Q mutation in two Irish control populations: use of a novel nested polymerase chain reaction approach
W. Livingstone, C. Keenan, Barry White, L. Mynett-Johnson +3 more
2000British Journal of Haematology6 citations
Semantic Scholar
Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta-synthase deficiency.
S. Yap, K. A. O'Donnell, C. O'Neill, P. Mayne +2 more
1999Thrombosis and Haemostasis6 citations
Semantic Scholar
Frequency distribution of the Q188R mutation in the Irish galactosaemic population
M. Murphy, D. Sexton, C. O'Neill, D. Croke +2 more
1996Journal of Inherited Metabolic Disease6 citations
Semantic Scholar
'Malignant Phenylketonuria' (PKU) Due to Dihydropteridine Reductase (DHPR) Deficiency.
A. Ventzke, J. Hoffmann, E. Crushell, A. Monavari +2 more
2015Irish medical journal5 citations
Semantic Scholar
Frequency distribution of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Irish population.
O. Tighe, J. M. Flanagan, F. Kernan, C. O'Neill +3 more
2004Molecular Genetics and Metabolism5 citations
Semantic Scholar
The Effect of Haemolysis on the Measurement of Plasma Alkaline Phosphatase Activity
A. Grosset, M. L. Knapp, P. Mayne
1987Annals of Clinical Biochemistry5 citations Open access
Semantic Scholar
Pseudohyperkalaemia
J. Axford, D. S. Rampton, P. Mayne
1985British medical journal5 citations Open access
Semantic Scholar
Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC.
J. M. Flanagan, O. Tighe, C. O'Neill, E. Naughten +2 more
2004Molecular Genetics and Metabolism4 citations
Semantic Scholar
Heat treatment for endocrinological investigations on plasma positive for human immunodeficiency virus (HIV).
M. R. Hancock, M. L. Knapp, H. Ghany, P. Mayne
1987Journal of Clinical Pathology4 citations Open access
Semantic Scholar
Clinical and Developmental Outcomes After 50 Years of Newborn Bloodspot Screening for Classical Galactosaemia in the Republic of Ireland
D. Pereira, E. Loftus, C. Thompson, F. Boyle +15 more
2025JIMD Reports3 citations Open access
Semantic Scholar
Infants Diagnosed with Athyreosis on Scintigraphy May Have a Gland Present on Ultrasound and Have Transient Congenital Hypothyroidism
N. McGrath, C. Hawkes, S. Ryan, P. Mayne +1 more
2021Hormone Research in Paediatrics3 citations
Semantic Scholar
Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection
K. O'Donnell, O. Tighe, C. O'Neill, E. Naughten +4 more
2001Human Mutation2 citations Open access
Semantic Scholar
A workbook of clinical chemistry : case presentation and data interpretation
P. Mayne, A. Day
19942 citations
Semantic Scholar
Development of a radioimmunoassay for measuring gonadotrophin releasing hormone in patients receiving treatment.
V. Mosby, M. L. Knapp, R. Fink, V. Osgood +1 more
1989Journal of Clinical Pathology2 citations Open access
Semantic Scholar
Rickets in low birthweight infants.
Ilya Kovar, Donald Barltrop, P. Mayne
1983Archives of Disease in Childhood2 citations Open access
Semantic Scholar
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population.
Z. Mesbah, Sing K. Ho, P. Fitzsimons, A. Monavari +2 more
2019Irish medical journal1 citations
Semantic Scholar
GP226 Tetrahydrobiopterin disorders in ireland: a case series of 7 patients
Arie Fisher, R. Boruah, P. Mayne, A. Monavari +2 more
2019Abstracts1 citations Open access
Semantic Scholar
Type 1 Tyrosinaemia.
M. Mannion, A. Smith, P. Mayne, A. Monavari
2016Irish medical journal1 citations
Semantic Scholar
A confused child: Question
E. Fitzpatrick, P. Mayne, D. Gill
2007Pediatric nephrology (Berlin, West)1 citations Open access
Semantic Scholar

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C. O'Neill×10
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E. Crushell×9
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D. Croke×8
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