Author

Maureen Boxer

Observed names: Boxer, M, M Boxer

Observed institutions: University of Dundee, Great Ormond Street Hospital, Ninewells Hospital, University College London, UConn Health

OpenAlex ID: A5111777089

Update of the UMD-FBN1mutation database and creation of anFBN1polymorphism database

2003 · Gwenaëlle Collod-Béroud, Saga Le Bourdelles, et al. · Human Mutation · 335

Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias

1997 · Douglas J. Clarke, Nabil Moghrabi, et al. · Clinica Chimica Acta · 137

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom

2001 · Karen E Heath, Steve E Humphries, et al. · European Journal of Human Genetics · 107

Family history of severe cardiovascular disease in Marfan syndrome is associated with increased aortic diameter and decreased survival

1995 · David I. Silverman, Jonathon Gray, et al. · Journal of the American College of Cardiology · 105

Genetic analysis of microsomal epoxide hydrolase in patients with carbamazepine hypersensitivity

1995 · Victoria J. Green, Munir Pirmohamed, et al. · Biochemical Pharmacology · 88

Identification of an A-to-G Missense Mutation in Exon 2 of the UGT1 Gene Complex That Causes Crigler-Najjar Syndrome Type 2

1993 · Nabil Moghrabi, Douglas J. Clarke, et al. · Genomics · 82

Absence of exon 15BRAF germline mutations in familial melanoma

2003 · Julie Lang, Maureen Boxer, et al. · Human Mutation · 66

Isolation of a Human YAC Contig Encompassing a Cluster of UGT2 Genes and Its Regional Localization to Chromosome 4q13

1994 · Gemma Monaghan, Douglas J. Clarke, et al. · Genomics · 59

Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis.

1993 · N Moghrabi, D J Clarke, et al. · PubMed · 51

Structure of the human UGT2B4 gene encoding a bile acid UDP-glucuronosyltransferase

1997 · Gemma Monaghan, Brian Burchell, et al. · Mammalian Genome · 31

Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial marfan syndrome phenotype

1998 · Cheryl Black, Anne P. Withers, et al. · Human Mutation · 28

Localization of a bile acid UDP-glucuronosyltransferase gene (UGT2B) to chromosome 4 using the polymerase chain reaction

1992 · Gemma Monaghan, Sue Povey, et al. · Genomics · 25

A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype

1997 · Patrick Booms, Anne P. Withers, et al. · Human Genetics · 17

Compartmentation of PO4 - Uptake and 32P Efflux in the Rhizoid Cells of Chara hispida L.

1985 · Rainer Joachim Box, Maureen Boxer, et al. · Biochemie und Physiologie der Pflanzen · 9

Three Mspl polymorphisms at the UGT1 locus

1993 · Nabil Moghrabi, Maureen Boxer, et al. · Human Molecular Genetics · 1

Works count: 17

Citation count: 1,141

H-index: 13

I10-index: 13