N. Waseem

发表

Start of UK Confidential Haemophilia A Database: Analysis of 142 Patients by Solid Phase Fluorescent Chemical Cleavage of Mismatch

F. Giannelli, P. Green, N. Waseem, 1999, Thrombosis and Haemostasis.

cause of severe hemophilia A Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent

P. Green, F. Giannelli, N. Waseem, 2013 .

Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.

P. Green, F. Giannelli, N. Waseem, 2002, Blood.

Human-Saccharomyces cerevisiae Proliferating Cell Nuclear Antigen Hybrids

B. Stillman, M. McGurk, V. Ellison, 2001, The Journal of Biological Chemistry.

Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients

P. Green, B. Colvin, F. Giannelli, 1999, British journal of haematology.

Diagnostic importance of the two‐stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954 → Leu substitution in the factor VIII A3 domain

D. Keeling, J. Lloyd, N. Waseem, 1999, British journal of haematology.

RDH12 retinopathy: novel mutations and phenotypic description

Dorothy A. Thompson, G. Holder, S. Bhattacharya, 2011, Molecular vision.

An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.

Dorothy A. Thompson, G. Holder, S. Bhattacharya, 2007, Investigative ophthalmology & visual science.

Isolated rod dysfunction associated with a novel genotype of CNGB1

G. Holder, G. Arno, A. Webster, 2019, American journal of ophthalmology case reports.

Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa.

D. Sharon, U. Wolfrum, J. Sosna, 2013, American journal of human genetics.

Mutant p 53 but not Hepatitis B Virus X Protein Is Present in Hepatitis B Virus .-related Human Hepatocellular Carcinoma '

M. Golding, N. Waseem, M. Alison, 2022 .

Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular RPE Atrophy

Amna Z. Shah, C. Ponting, E. Zrenner, 2018 .

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.

Ivana K. Kim, G. Abecasis, J. Haines, 2014, Human molecular genetics.

A clinical and molecular characterisation of CRB1-associated maculopathy

G. Holder, O. Mahroo, K. Carss, 2018, European Journal of Human Genetics.

A study of cell proliferation in formalin‐fixed, wax‐embedded bone marrow trephine biopsies using the monoclonal antibody PC10, reactive with proliferating cell nuclear antigen (PCNA)

D. Lane, D. Jones, N. Waseem, 1992, The Journal of pathology.

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

Amna Z. Shah, H. Cordell, M. Simpson, 2020, PLoS genetics.

Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene

A. Bird, A. Webster, R. Ali, 2006, British Journal of Ophthalmology.

Identification of a novel keratin epitope: evidence for association between non-helical sub-domains L12 during filament assembly.

A. Waseem, N. Waseem, K. White, 1997, The international journal of biochemistry & cell biology.

Mutation detection in factor VIII cDNA from lymphocytes of hemophilia A patients by solid phase fluorescent chemical cleavage of mismatch.

P. Green, F. Giannelli, N. Waseem, 2002, Methods in molecular biology.

Intracellular localization of the hepatitis B virus HBx protein.

R. Goldin, N. Waseem, J. Hoare, 2001, The Journal of general virology.

Lack of Association of IVS8+4 C/T and IVS8+32 T/C Polymorphisms in the OPA1 Gene With Normal Tension Glaucoma in Patients From Singapore, India and Japan

S. Bhattacharya, T. Aung, E. Vithana, 2005 .

Transcriptome Analysis Reveals Vimentin-Induced Disruption of Cell–Cell Associations Augments Breast Cancer Cell Migration

W. A. Yeudall, M. Teh, A. Waseem, 2022, Cells.

Proliferating cell nuclear antigen (PCNA) immunolocalization in paraffin sections: An index of cell proliferation with evidence of deregulated expression in some, neoplasms

D. Lane, R. Camplejohn, P. Hall, 1990, The Journal of pathology.

Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using single-nucleotide polymorphism markers.

S. Tuft, S. Bhattacharya, P. Hysi, 2010, A M A Archives of Ophthalmology.

Monoclonal antibody analysis of the proliferating cell nuclear antigen (PCNA). Structural conservation and the detection of a nucleolar form.

D. Lane, N. Waseem, D. Lane, 1990, Journal of cell science.

Mutant p53 but not hepatitis B virus X protein is present in hepatitis B virus-related human hepatocellular carcinoma.

M. Golding, N. Waseem, M. Alison, 1995, Cancer research.

Prognostic value of proliferating cell nuclear antigen in gastric carcinoma.

D. Lane, P. Hall, D. Levison, 1991, Journal of clinical pathology.

Haemophilia A mutations in the UK: results of screening one‐third of the population

P. Green, F. Giannelli, P. Green, 2008, British journal of haematology.

Vimentin Is at the Heart of Epithelial Mesenchymal Transition (EMT) Mediated Metastasis

M. Teh, A. Waseem, N. Waseem, 2021, Cancers.

Molecular and Clinical Findings in Patients With Knobloch Syndrome.

G. Holder, Rui Chen, G. Arno, 2016, JAMA ophthalmology.

Whole Exome Sequencing Reveals Novel Candidate Genes in Familial Forms of Glaucomatous Neurodegeneration

A. Rao, K. Ray, N. Waseem, 2023, Genes.

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

G. Abecasis, A. Swaroop, D. Breuer, 2009, American journal of human genetics.

A 112 kb deletion in chromosome 19q13.42 leads to retinitis pigmentosa.

S. Bhattacharya, A. Webster, N. Waseem, 2011, Investigative ophthalmology & visual science.

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

J. Sahel, S. Bhattacharya, V. Moskova-Doumanova, 2010, BMC Medical Genetics.

Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.

A. Bird, S. Bhattacharya, A. Webster, 2007, Investigative ophthalmology & visual science.

Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma

Jost B Jonas, Ronnie George, Lingam Vijaya, 2012, Nature Genetics.

A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity

U. Wolfrum, K. Nagel-Wolfrum, V. Plagnol, 2013, Human mutation.

Isolation and analysis of the fission yeast gene encoding polymerase delta accessory protein PCNA.

P. Nurse, K. Labib, N. Waseem, 1992, The EMBO journal.

Isolation, sequence and expression of the gene encoding human keratin 13.

B. Doğan, I. Leigh, A. Waseem, 1998, Gene.

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

Amna Z. Shah, C. Ponting, A. Swaroop, 2007, American journal of human genetics.

A clinical and molecular characterisation of CRB1-associated maculopathy

G. Holder, O. Mahroo, K. Carss, 2018, European Journal of Human Genetics.

Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice

A. Swaroop, S. Bhattacharya, J. Heckenlively, 2010, Proceedings of the National Academy of Sciences.

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Colin A. Johnson, Michael A. Beer, R. Gibbs, 2009, Nature Genetics.

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy

G. Holder, S. Bhattacharya, F. Alkuraya, 2010, Molecular vision.

Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.

G. Holder, S. Bhattacharya, A. Webster, 2011, Investigative ophthalmology & visual science.

Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans

S. Bhattacharya, A. Moore, W. Emmett, 2013, European Journal of Human Genetics.

RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

G. Holder, V. Plagnol, P. Sergouniotis, 2013, Human mutation.

A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.

Kang Zhang, Nicholas Katsanis, Donald J Zack, 2010, American journal of human genetics.

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

S. R. Krishnadas, Chaw Chaw Khaing, Y. Teo, 2016, Nature Genetics.

Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma

Arijit Mukhopadhyay, Kunal Ray, Shomi S. Bhattacharya, 2016, BMC Medical Genomics.

ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma

Y. Teo, J. Jonas, T. Wong, 2014, PLoS genetics.

Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects

J. Klein-Seetharaman, S. Bhattacharya, M. Ganapathiraju, 2006, Vision Research.

Conformational changes in the rod domain of human keratin 8 following heterotypic association with keratin 18 and its implication for filament stability.

E. Lane, I. Leigh, A. Waseem, 2004, Biochemistry.

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.

S. Bhattacharya, I. Lopez, H. Ren, 2015, Investigative ophthalmology & visual science.

NMNAT1 mutations cause Leber congenital amaurosis

Marni J. Falk, J. Sahel, E. Berson, 2012, Nature Genetics.

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.

Colin A. Johnson, Eamonn Sheridan, Carmel Toomes, 2015, American journal of human genetics.

Expression of PRPF31 and TFPT: regulation in health and retinal disease.

Amna Z. Shah, S. Bhattacharya, G. Alfano, 2012, Human molecular genetics.

Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration

J. Marsh, K. Carss, G. Arno, 2018, Ophthalmic genetics.

Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction.

S. Bhattacharya, F. Fitzke, R. Andrews, 2006, Investigative ophthalmology & visual science.

Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.

W. Berger, S. Bhattacharya, A. Moore, 2010, Investigative ophthalmology & visual science.

Alterations of the 5 ’ untranslated leader region of SLC 16 A 12 lead to age-related cataract

W. Berger, S. Bhattacharya, A. Moore, 2010 .

Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.

R. Kaneva, A. Wright, S. Bhattacharya, 2006, Molecular vision.

NMNAT 1 Mutations Cause Leber Congenital Amaurosis

Marni J. Falk, J. Sahel, E. Berson, 2013 .

A keratin antibody recognizing a heterotypic complex: epitope mapping to complementary locations on both components of the complex.

E. Lane, A. Waseem, N. Waseem, 1996, Experimental cell research.

A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract

S. Bhattacharya, A. Moore, P. Francis, 2011, Molecular vision.

Mutation analysis and genetic service: the construction and use of national confidential databases of mutations and pedigrees.

F. Giannelli, P. Green, N. Waseem, 1997, Genetic testing.

Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1

O. Mahroo, G. Arno, M. Michaelides, 2022, Investigative ophthalmology & visual science.

RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

G. Holder, V. Plagnol, P. Sergouniotis, 2013, Human mutation.

Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma

Y. Teo, Liang Xu, J. Jonas, 2012, Nature Genetics.

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

Xinjing Wang, F. Raymond, G. Arno, 2018, Investigative ophthalmology & visual science.