Search filters

List of works by Nazneen Rahman

15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.

scientific article published in February 2009

35th Annual Meeting of the European Association for the Study of Diabetes

article

35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999

article

A Cost-Effectiveness Evaluation of Germline BRCA1 and BRCA2 Testing in UK Women with Ovarian Cancer

scientific article

A WT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome

scientific article published on 21 October 2004

A census of human cancer genes

scientific article

A common coding variant in CASP8 is associated with breast cancer risk

article

A cost analysis of a cancer genetic service model in the UK

scientific article published on 27 February 2016

A discrete event simulation to evaluate the cost effectiveness of germline BRCA1 and BRCA2 testing in UK women with ovarian cancer

scientific article published on 23 June 2016

A gene for lymphedema-distichiasis maps to 16q24.3.

scientific article

A genome wide linkage search for breast cancer susceptibility genes

scientific article published on July 2006

A genome-wide association study identifies susceptibility loci for Wilms tumor

scientific journal article

A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.

scientific article

A genome-wide association study of testicular germ cell tumor

scientific article

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

scientific article

A missense mutation in the BRCA2 gene in three siblings with ovarian cancer

scientific article

A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers

scientific article published on December 2006

A new familial cancer syndrome including predisposition to Wilms tumor and neuroblastoma

A new gene on the X involved in Fanconi anemia

article

A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO

scientific article

A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations.

scientific article published on 30 August 2010

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

scientific article published on 18 June 2018

ATM and breast cancer susceptibility

scientific article

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

scientific article

Absence of evidence for a familial breast cancer susceptibility gene at chromosome 8p12-p22

article

Absence of the TRIP13 c.1060C>T Mutation in Wilms Tumor Patients From Pakistan

scientific article published on 01 April 2020

Abstract S3-01: The TNT trial: A randomized phase III trial of carboplatin (C) compared with docetaxel (D) for patients with metastatic or recurrent locally advanced triple negative or BRCA1/2 breast cancer (CRUK/07/012)

scientific article published on 30 April 2015

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.

scientific article published on 25 November 2016

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

scientific article

Association study of prostate cancer susceptibility variants with risks of invasive ovarian, breast, and colorectal cancer

scientific article

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

scientific article published on 18 August 2011

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

article by Xiang Shu et al published 1 October 2018 in International Journal of Epidemiology

BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years

scientific article published on 14 February 2012

Bayesian refinement of association signals for 14 loci in 3 common diseases

scientific article published on 28 October 2012

Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour

scientific article published in February 2005

Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

scientific article published on 29 May 2017

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

scientific article

Body mass index and breast cancer survival: a Mendelian randomization analysis

scientific article published in December 2017

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

scientific article

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

scientific article

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting

scientific article published on 28 July 2015

Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players

scientific article published on April 2007

Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial

scientific article published on 30 April 2018

Case of interstitial 12q deletion in association with Wilms tumor

Case of interstitial 12q deletion in association with Wilms tumor

Characterizing genetic variants for clinical action

scientific article

Chromosome 6p22 locus associated with clinically aggressive neuroblastoma

scientific article

Clinical Annotation Reference Templates: a resource for consistent variant annotation

Clinical and genetic heterogeneity in peroneal muscular atrophy associated with vocal cord weakness

scientific article published on December 2002

Clinical features of NSD1-positive Sotos syndrome

scientific article

Common germline polymorphisms associated with breast cancer-specific survival

scientific article published on 22 April 2015

Common variations in BARD1 influence susceptibility to high-risk neuroblastoma

scientific article

Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome

article

Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article

Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer

scientific article

Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1

scientific article (publication date: November 1998)

Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12

scientific article (publication date: October 2001)

Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24

Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.

scientific article published on 5 October 2008

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.

scientific article published on 10 October 2004

Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene

scientific article

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article published in PLoS ONE

Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

article by Katrina Tatton-Brown et al published 30 November 2018 in Oncotarget

Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

article

Corrigendum: Mutations in the transcriptional repressor REST predispose to Wilms tumor.

scientific article

Cost-Effectiveness Analysis of Testing for Brca Mutations in Women Diagnosed with Ovarian Cancer and their Female First-Degree Relatives: A Uk Health Service Perspective

scientific article published on 26 October 2014

Cost-Effectiveness Analysis of Testing for Brca1 and Brca2 Mutations In Women Diagnosed With Ovarian Cancer and Their Female First- And Second Degree Relatives Using A Discrete Event Simulation: A Uk Health Service Perspective

scientific article published on 20 October 2015

CoverView: a sequence quality evaluation tool for next generation sequencing data

scientific article

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

scientific article

DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

scientific article

Development of cancer genetic services in the UK: A national consultation

scientific article

Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization

scientific article published on September 2005

EZH2-Related Overgrowth ⬇️

scientific article published on August 2, 2018

Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.

scientific article

Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma

scientific article published on 14 December 2009

Erratum: Corrigendum: A common coding variant in CASP8 is associated with breast cancer risk

scholarly article published in Nature Genetics

Erratum: Corrigendum: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

article

Estrogen Receptor Status Could Modulate the Genomic Pattern in Familial and Sporadic Breast Cancer

Evaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer

scientific article published on 03 May 2019

Evaluation of Fanconi Anemia genes in familial breast cancer predisposition

article

Evaluation of NSD2 and NSD3 in overgrowth syndromes

scientific article published on 01 February 2005

Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium

scientific article

Evaluation ofRAD50 in familial breast cancer predisposition

Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12–q21

scientific article (publication date: August 1996)

Evidence for susceptibility genes to familial Wilms tumour in addition to WT1, FWT1 and FWT2

scientific article published on July 2000

Exploring the link between MORF4L1 and risk of breast cancer

scientific article

Facial dysmorphism and digit anomalies in three siblings with severe developmental delay

scientific article published on April 2011

Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations

scientific article published on July 2007

Familial Wilms tumour resulting from WT1 mutation: intronic polymorphism causing artefactual constitutional homozygosity

scientific article published in May 2000

Familial gigantism caused by an NSD1 mutation

scientific article published in November 2005

Familial vocal fold paralysis

scientific article

Frequency and Heritability ofWT1Mutations in Nonsyndromic Wilms' Tumor Patients: A UK Children’s Cancer Study Group Study

Gene-gene interactions in breast cancer susceptibility

scientific article

Gene-panel sequencing and the prediction of breast-cancer risk

scientific article

Generation of trisomies in cancer cells by multipolar mitosis and incomplete cytokinesis

scientific article

Genetic predisposition to breast cancer: past, present, and future

scientific article published on January 2008

Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism.

scientific article

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

scientific article published in September 2016

Genome-wide association analysis identifies three new breast cancer susceptibility loci

scientific article published on 22 January 2012

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

scientific article

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

scientific article published in April 2013

Genome-wide association study identifies five new breast cancer susceptibility loci

scientific article

Genome-wide association study identifies novel breast cancer susceptibility loci

scientific article published on 28 June 2007

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

scientific article

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

scientific article

Genome‐wide association studies provide new insights into the genetic basis of testicular germ‐cell tumour ⬇️

scientific article published on May 30, 2011

Genomic variant sharing: a position statement

scientific article published on 05 February 2019

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations

scientific article

Germline RAD51C mutations confer susceptibility to ovarian cancer

Germline mutations in RAD51D confer susceptibility to ovarian cancer

scientific article (publication date: 7 August 2011)

Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.

scientific article

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

scientific article published on December 2011

Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma

scientific article published in June 2011

Heterozygosity for mutations in the ataxia telangiectasia gene is not a major cause of radiotherapy complications in breast cancer patients ⬇️

scientific article published on October 1, 1998

Human chromosome 7: DNA sequence and biology

scientific article

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series

article by Elise Ruark et al published 31 August 2018 in Wellcome Open Research

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

scientific article

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

scientific article published on 27 April 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

scientific article

Identification of new Wilms tumour predisposition genes: an exome sequencing study

article

Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14

scientific article published on 12 May 2013

Identification of novel genetic markers of breast cancer survival

scientific article published on 18 April 2015

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients

scientific article published on 13 July 2016

Inherited susceptibility to colorectal adenomas and carcinomas: Evidence for a new predisposition gene on 15q14-q22

article

Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers

scientific article published on 19 April 2019

Integrative genomics identifies LMO1 as a neuroblastoma oncogene

scientific article

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

scientific article

Linkage analysis of 56 multiplex families excludes the Cowden disease gene PTEN as a major contributor to familial breast cancer.

scientific article published in September 1999

Lobular carcinoma in situ of the breast is not caused by constitutional mutations in the E-cadherin gene

scientific article published on February 2000

Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

scientific article

Low frequency of germline E-cadherin mutations in familial and nonfamilial gastric cancer

scientific article published on April 1999

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

scientific article (publication date: May 2002)

Mainstreaming genetic testing of cancer predisposition genes

scientific article

Mammographic breast density and breast cancer: evidence of a shared genetic basis

scientific article

Mechanisms predisposing to childhood overgrowth and cancer

scientific article

Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations.

scientific article published in February 2007

Meta-analysis identifies four new loci associated with testicular germ cell tumor

scientific article published on 12 May 2013

Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation

scientific article published on 15 October 2007

MicroRNA related polymorphisms and breast cancer risk

scientific article

Molecular causes for BUBR1 dysfunction in the human cancer predisposition syndrome mosaic variegated aneuploidy.

scientific article published on June 2010

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

scientific article

Mosaic variegated aneuploidy without microcephaly: Implications for cytogenetic diagnosis

Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25 ⬇️

scientific article

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.

scientific article

Mutation and association analysis of GEN1 in breast cancer susceptibility

scientific article published on 30 May 2010

Mutation of the RAD51C gene in a Fanconi anemia-like disorder

scientific article published on 18 April 2010

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

scientific article

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

scientific article published on May 2017

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

scientific article (publication date: August 2007)

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

scientific article published on 09 March 2014

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

scientific article published on 13 May 2015

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis

scientific article

Mutations in the transcriptional repressor REST predispose to Wilms tumor

scientific article published on 9 November 2015

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains

scientific article published in November 2003

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes

scientific article

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

scientific article published on 29 March 2009

Oncologist-led BRCA 'mainstreaming' in the ovarian cancer clinic: A study of 255 patients and its impact on their management

scientific article published on 25 February 2020

OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.

scientific article published on 3 August 2016

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

scientific article

PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations.

scientific article

Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification

scientific article published in September 2005

Pathway-based analysis of GWAs data identifies association of sex determination genes with susceptibility to testicular germ cell tumors

scientific article

Penetrance of Mutations in the Familial Wilms Tumor Gene FWT1

article

Periodontal treatment of two siblings with juvenile hyaline fibromatosis

scientific article published in September 2005

Prediction of breast cancer risk based on profiling with common genetic variants

scientific article published on 8 April 2015

Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer

scientific article published on 18 April 2012

Realizing the promise of cancer predisposition genes

scientific article

Recognition of and Response to neonatal intrapartum-related complications in home-birth settings in Bangladesh.

scientific article

Refinement of the Gene Locus for Autosomal Dominant Medullary Cystic Kidney Disease Type 1 (MCKD1) and Construction of a Physical and Partial Transcriptional Map of the Region

article

Resolving the full spectrum of human genome variation using Linked-Reads

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.

scientific article published on 30 June 2009

Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome

scientific article

Skeletal muscle involvement in infantile systemic hyalinosis

article

Sotos syndrome

scientific article

Stratification of Wilms tumor by genetic and epigenetic analysis

scientific article

Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice

scientific article published on 20 July 2006

Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour

scientific article

THE GENETICS OF BREAST CANCER SUSCEPTIBILITY

article

Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23.

scientific article

The ICR1000 UK exome series: a resource of gene variation in an outbred population

scientific article published on 22 September 2015

The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis

scientific article

The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing

article

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data

scientific article

The NSD1 and EZH2 overgrowth genes, similarities and differences

scientific article published on 16 April 2013

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing  data quality assurance

scientific article published on 4 April 2018

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

scientific article

The emerging landscape of breast cancer susceptibility

The familial Wilms' tumour susceptibility gene, FWT1, may not be a tumour suppressor gene

article

The gene for cherubism maps to chromosome 4p16.3.

scientific article

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21

scientific article

The integration of BRCA testing into oncology clinics

scientific article published on June 2016

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

article

Update on the Manchester Scoring System for BRCA1 and BRCA2 testing

scientific article published in July 2005

Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility

scientific article

Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer

scientific article

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

scientific article published on 8 November 2013

Wound healing potentials of Thevetia peruviana: Antioxidants and inflammatory markers criteria

scientific article published on 14 February 2017

Paulina is supported by:

About Paulina

Help