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Lista de obras de 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.

artículo científico publicado en 2009

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

artículo científico

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

artículo científico publicado en 2017

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

artículo científico publicado en 2004

A census of human cancer genes

artículo científico publicado en 2004

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 1999

A genome wide linkage search for breast cancer susceptibility genes

artículo científico publicado en 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.

artículo científico publicado en 2014

A genome-wide association study of testicular germ cell tumor

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 1998

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

ATM and breast cancer susceptibility

artículo científico publicado en 2006

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

artículo científico publicado en 2006

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)

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Association analysis identifies 65 new breast cancer risk loci.

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2005

Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

artículo científico publicado en 2017

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

artículo científico publicado en 2006

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2014

Chromosome 6p22 locus associated with clinically aggressive neuroblastoma

artículo científico publicado en 2008

Clinical Annotation Reference Templates: a resource for consistent variant annotation

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

artículo científico publicado en 2002

Clinical features of NSD1-positive Sotos syndrome

artículo científico publicado en 2004

Common germline polymorphisms associated with breast cancer-specific survival

artículo científico publicado en 2015

Common variations in BARD1 influence susceptibility to high-risk neuroblastoma

artículo científico publicado en 2009

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)

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 1998

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

artículo científico publicado en 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.

artículo científico publicado en 2008

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

artículo científico publicado en 2004

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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.

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico

EZH2-Related Overgrowth ⬇️

artículo científico publicado el 2 de agosto de 2018

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

artículo científico publicado en 2003

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2002

Evaluation ofRAD50 in familial breast cancer predisposition

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

artículo científico publicado en 1996

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

artículo científico publicado en 2000

Exploring the link between MORF4L1 and risk of breast cancer

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 2000

Familial gigantism caused by an NSD1 mutation

artículo científico publicado en 2005

Familial vocal fold paralysis

artículo científico publicado en 2002

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

Gene-gene interactions in breast cancer susceptibility

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

Genome-wide association study identifies novel breast cancer susceptibility loci

artículo científico publicado en 2007

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

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

artículo científico publicado el 30 de mayo de 2011

Genomic variant sharing: a position statement

artículo científico publicado en 2019

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

artículo científico publicado en 2005

Germline RAD51C mutations confer susceptibility to ovarian cancer

Germline mutations in RAD51D confer susceptibility to ovarian cancer

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado el 1 de octubre de 1998

Human chromosome 7: DNA sequence and biology

artículo científico publicado en 2003

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Identification of novel genetic markers of breast cancer survival

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2019

Integrative genomics identifies LMO1 as a neuroblastoma oncogene

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 1999

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

artículo científico publicado en 2000

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

artículo científico publicado en 2001

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

artículo científico publicado en 1999

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

artículo científico publicado en 2002

Mainstreaming genetic testing of cancer predisposition genes

artículo científico publicado en 2014

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

artículo científico publicado en 2012

Mechanisms predisposing to childhood overgrowth and cancer

artículo científico publicado en 2005

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2007

MicroRNA related polymorphisms and breast cancer risk

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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 ⬇️

artículo científico publicado en 2014

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

artículo científico publicado en 2005

Mutation and association analysis of GEN1 in breast cancer susceptibility

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico

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

artículo científico publicado en 2015

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

artículo científico publicado en 2003

Mutations in the transcriptional repressor REST predispose to Wilms tumor

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 2009

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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 2007

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

artículo científico publicado en 2006

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

artículo científico publicado en 2005

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

artículo científico publicado en 2014

Penetrance of Mutations in the Familial Wilms Tumor Gene FWT1

article

Periodontal treatment of two siblings with juvenile hyaline fibromatosis

artículo científico publicado en 2005

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

Realizing the promise of cancer predisposition genes

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2001

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.

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Skeletal muscle involvement in infantile systemic hyalinosis

article

Sotos syndrome

artículo científico publicado en 2006

Stratification of Wilms tumor by genetic and epigenetic analysis

artículo científico publicado en 2012

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

artículo científico publicado en 2006

Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour

artículo científico publicado en 2006

THE GENETICS OF BREAST CANCER SUSCEPTIBILITY

article

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

The NSD1 and EZH2 overgrowth genes, similarities and differences

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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.

artículo científico publicado en 1999

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21

artículo científico publicado en 2002

The integration of BRCA testing into oncology clinics

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado en 2003

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

artículo científico publicado en 2010

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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