Nazneen Rahman

Q: What Schools Are Affiliated With Nazneen Rahman

Nazneen Rahman is affiliated with the following schools: Institute of Cancer Research, University of Oxford, University of Toronto

Nazneen Rahman's AcademicInfluence.com Rankings

Nazneen Rahman

Biology

#11096

World Rank

#14471

Historical Rank

Genetics

#1194

World Rank

#1295

Historical Rank

biology Degrees

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Biology

Why Is Nazneen Rahman Influential?

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According to Wikipedia, Sabera Nazneen Rahman is a geneticist who specialises in cancer research and is a non-executive director for Astra Zeneca. She was previously head of Genetics and Epidemiology at the Institute of Cancer Research.

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Nazneen Rahman's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls (2007) (9208)
A census of human cancer genes (2004) (3087)
Genome-wide association study identifies novel breast cancer susceptibility loci (2007) (2351)
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants (2007) (1421)
Large-scale genotyping identifies 41 new loci associated with breast cancer risk (2013) (1063)
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene (2007) (1005)
Association analysis identifies 65 new breast cancer risk loci (2017) (922)
Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. (1999) (876)
Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations (2002) (860)
Gene-panel sequencing and the prediction of breast-cancer risk. (2015) (747)
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles (2006) (733)
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles (2006) (728)
Genome-wide association study identifies five new breast cancer susceptibility loci (2010) (716)
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer (2007) (629)
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls (2010) (600)
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B (2004) (599)
A common coding variant in CASP8 is associated with breast cancer risk (2007) (591)
Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial (2018) (587)
MicroRNA Related Polymorphisms and Breast Cancer Risk (2014) (557)
The emerging landscape of breast cancer susceptibility (2007) (511)
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2 (2009) (502)
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer (2015) (502)
Germline mutations in RAD51D confer susceptibility to ovarian cancer (2011) (493)
Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants (2015) (471)
Realizing the promise of cancer predisposition genes (2014) (467)
Genome-wide association study of copy number variation in 16,000 cases of eight common diseases and 3,000 shared controls (2010) (465)
CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. (2004) (442)
Mutation of the RAD51C gene in a Fanconi anemia–like disorder (2010) (422)
Bayesian refinement of association signals for 14 loci in 3 common diseases (2012) (416)
Genome-wide association studies identify four ER negative–specific breast cancer risk loci (2013) (411)
A structural variation reference for medical and population genetics (2020) (394)
Breast-cancer risk in families with mutations in PALB2. (2014) (367)
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer (2010) (329)
A genome-wide association study of testicular germ cell tumor (2009) (322)
DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome (2011) (308)
The genetics of breast cancer susceptibility. (1998) (300)
Genetic predisposition to breast cancer: past, present, and future. (2008) (299)
Genome-wide association analysis identifies three new breast cancer susceptibility loci (2012) (291)
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. (2005) (282)
Integrative genomics identifies LMO1 as a neuroblastoma oncogene (2011) (280)
Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. (2008) (280)
Common variations in BARD1 influence susceptibility to high-risk neuroblastoma (2009) (268)
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. (2003) (263)
A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO (2004) (261)
Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour (2006) (251)
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer (2017) (244)
Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability (2014) (243)
ATM and breast cancer susceptibility (2006) (242)
Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism (2015) (241)
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer (2012) (213)
Human Chromosome 7: DNA Sequence and Biology (2003) (208)
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. (2003) (206)
Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma (2009) (197)
Identification of Novel Genetic Markers of Breast Cancer Survival (2015) (185)
Oncostatin M drives intestinal inflammation and predicts response to tumor necrosis factor-neutralizing therapy in patients with inflammatory bowel disease (2017) (184)
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. (2012) (182)
Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization. (2005) (179)
A federated ecosystem for sharing genomic, clinical data (2016) (177)
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 orBRCA1/2breast cancer (CRUK/07/012) (2015) (174)
The gene for cherubism maps to chromosome 4p16.3. (1999) (170)
Resolving the full spectrum of human genome variation using Linked-Reads (2017) (161)
Germline RAD51C mutations confer susceptibility to ovarian cancer (2012) (158)
Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients (2016) (157)
Meta-analysis identifies four new loci associated with testicular germ cell tumor (2013) (155)
Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12–q21 (1996) (150)
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14 (2013) (149)
A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer (2018) (149)
Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. (2003) (146)
Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types. (2016) (146)
A genome wide linkage search for breast cancer susceptibility genes (2006) (146)
Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor (2008) (145)
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability (2017) (138)
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height (2011) (133)
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome (2011) (123)
Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice (2006) (121)
Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. (2009) (116)
Inherited susceptibility to colorectal adenomas and carcinomas: evidence for a new predisposition gene on 15q14-q22. (1999) (116)
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour (2005) (114)
Molecular causes for BUBR1 dysfunction in the human cancer predisposition syndrome mosaic variegated aneuploidy. (2010) (110)
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 (2002) (106)
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype (2013) (103)
A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations (2010) (102)
Frequency and heritability of WT1 mutations in nonsyndromic Wilms' tumor patients: a UK Children's Cancer Study Group Study. (2004) (98)
BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years (2012) (98)
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation (2017) (97)
A gene for lymphedema-distichiasis maps to 16q24.3. (1999) (96)
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer (2016) (95)
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. (2011) (90)
Transcript expression-aware annotation improves rare variant interpretation (2020) (89)
Stratification of Wilms tumor by genetic and epigenetic analysis (2012) (87)
Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. (2016) (87)
Clinical features of NSD1-positive Sotos syndrome (2004) (86)
Evaluating drug targets through human loss-of-function genetic variation (2019) (86)
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth (2007) (85)
Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players. (2007) (85)
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation (2007) (84)
Update on the Manchester Scoring System for BRCA1 and BRCA2 testing (2005) (84)
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. (2003) (84)
Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations (2007) (84)
Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis. (2018) (80)
Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour (2014) (79)
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2019) (78)
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 (2014) (77)
The gene for juvenile hyaline fibromatosis maps to chromosome 4q21. (2002) (75)
Generation of trisomies in cancer cells by multipolar mitosis and incomplete cytokinesis (2010) (73)
Evaluation of Fanconi Anemia genes in familial breast cancer predisposition. (2003) (72)
Evaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer (2019) (71)
The NSD1 and EZH2 Overgrowth Genes, Similarities and Differences (2013) (71)
Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN (2016) (69)
The effect of LRRK2 loss-of-function variants in humans (2020) (69)
Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer (2012) (67)
Genome-wide association studies provide new insights into the genetic basis of testicular germ-cell tumour. (2011) (66)
Low frequency of germline E-cadherin mutations in familial and nonfamilial gastric cancer (1999) (66)
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth (2015) (64)
Heterozygosity for mutations in the ataxia telangiectasia gene is not a major cause of radiotherapy complications in breast cancer patients. (1998) (64)
Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. (2001) (64)
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome (2005) (63)
Evaluation of RAD50 in familial breast cancer predisposition (2006) (63)
Mammographic breast density and breast cancer: evidence of a shared genetic basis. (2012) (61)
A Multicenter Study of Cancer Incidence in CHEK2 1100delC Mutation Carriers (2006) (61)
Mainstreaming genetic testing of cancer predisposition genes. (2014) (61)
Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data (2019) (61)
Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma (2011) (60)
Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23. (2013) (60)
Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC) (2012) (60)
Identification of new Wilms tumour predisposition genes: an exome sequencing study (2019) (59)
Sotos syndrome (2007) (58)
PHOX2B analysis in non‐syndromic neuroblastoma cases shows novel mutations and genotype–phenotype associations (2006) (55)
A Cost-Effectiveness Evaluation of Germline BRCA1 and BRCA2 Testing in UK Women with Ovarian Cancer (2017) (54)
15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q (2009) (53)
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants (2018) (52)
A genome-wide association study identifies susceptibility loci for Wilms tumor (2012) (52)
Evidence for susceptibility genes to familial Wilms tumour in addition to WT1, FWT1 and FWT2 (2000) (52)
Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma (2017) (52)
Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene (2009) (52)
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk. (2015) (51)
CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting (2015) (50)
The integration of BRCA testing into oncology clinics. (2016) (50)
Mechanisms predisposing to childhood overgrowth and cancer. (2005) (49)
Characterizing genetic variants for clinical action (2014) (48)
Mutations in the transcriptional repressor REST predispose to Wilms tumor (2015) (48)
Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13. (2003) (47)
Absence of evidence for a familial breast cancer susceptibility gene at chromosome 8p12-p22 (2000) (45)
Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations (2007) (42)
Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome (2013) (42)
Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome. (2006) (42)
Development of cancer genetic services in the UK: A national consultation (2015) (42)
Gene-gene interactions in breast cancer susceptibility. (2012) (42)
Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification (2005) (42)
Confirmation of FWT1 as a Wilms’ tumour susceptibility gene and phenotypic characteristics of Wilms’ tumour attributable to FWT1 (1998) (41)
Lobular carcinoma in situ of the breast is not caused by constitutional mutations in the E-cadherin gene (2000) (40)
Evaluation of NSD2 and NSD3 in overgrowth syndromes (2005) (39)
Estrogen Receptor Status Could Modulate the Genomic Pattern in Familial and Sporadic Breast Cancer (2007) (38)
Body mass index and breast cancer survival: a Mendelian randomization analysis (2017) (38)
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6 q 14 and 20 q 11 (2012) (36)
Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23‐q24 (2005) (34)
Pathway-based analysis of GWAs data identifies association of sex determination genes with susceptibility to testicular germ cell tumors. (2014) (33)
Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer (2011) (33)
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus (2016) (32)
Common germline polymorphisms associated with breast cancer-specific survival (2015) (31)
Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25. (2015) (31)
A cost analysis of a cancer genetic service model in the UK (2015) (30)
The ICR1000 UK exome series: a resource of gene variation in an outbred population (2015) (29)
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation (2020) (29)
A WT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome (2004) (28)
Variants in CHEK 2 Other than 1100 delC Do Not Make a Major Contribution to Breast Cancer Susceptibility (2003) (27)
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. (2001) (27)
Linkage analysis of 56 multiplex families excludes the Cowden disease genePTEN as a major contributor to familial breast cancer (1999) (27)
Oncologist-led BRCA ‘mainstreaming’ in the ovarian cancer clinic: A study of 255 patients and its impact on their management (2020) (26)
Wound healing potentials of Thevetia peruviana: Antioxidants and inflammatory markers criteria (2017) (24)
Aneuploidy-Cancer Predisposition Syndromes: A New Link between the Mitotic Spindle Checkpoint and Cancer (2005) (22)
Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12. (2001) (21)
Exploring the link between MORF4L1 and risk of breast cancer (2011) (21)
Periodontal treatment of two siblings with juvenile hyaline fibromatosis. (2005) (21)
Familial gigantism caused by an NSD1 mutation (2005) (20)
The familial Wilms' tumour susceptibility gene, FWT1, may not be a tumour suppressor gene (1997) (19)
Mosaic variegated aneuploidy without microcephaly: Implications for cytogenetic diagnosis (2007) (18)
EZH2-Related Overgrowth (2015) (17)
Genomic variant sharing: a position statement (2019) (17)
Familial vocal fold paralysis (2002) (17)
Chromosomal instability by mutations in the novel minor spliceosome component CENATAC (2021) (16)
Association study of prostate cancer susceptibility variants with risks of invasive ovarian, breast, and colorectal cancer. (2008) (16)
Familial Wilms tumour resulting from WT1 mutation: intronic polymorphism causing artefactual constitutional homozygosity (2000) (16)
Biallelic mutations in PALB2 cause Fanconi anemia and predispose to childhood cancer (2007) (15)
Case of interstitial 12q deletion in association with Wilms tumor. (2001) (15)
Mutations in the PP 2 A regulatory subunit B family genes PPP 2 R 5 B , PPP 2 R 5 C and PPP 2 R 5 D cause human overgrowth (2015) (15)
The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data (2017) (15)
An interlaboratory study of complex variant detection (2017) (14)
Abstract S6-01:BRCA1methylation status, silencing and treatment effect in the TNT trial: A randomized phase III trial of carboplatin compared with docetaxel for patients with metastatic or recurrent locally advanced triple negative or BRCA1/2 breast cancer (CRUK/07/012) (2017) (14)
Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2 (2012) (14)
Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression (2018) (14)
A missense mutation in the BRCA2 gene in three siblings with ovarian cancer. (1998) (13)
A new familial cancer syndrome including predisposition to Wilms tumor and neuroblastoma (2010) (12)
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients (2019) (12)
Mutation and association analysis of GEN1 in breast cancer susceptibility (2010) (12)
The Gene for Cherubism Maps to Chromosome (2001) (11)
Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers (2019) (11)
Penetrance of mutations in the familial Wilms tumor gene FWT1. (2000) (10)
Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease ( EDS-VIII ) Is a Distinct , Heterogeneous Disorder with One Predisposition Gene at Chromosome 12 p 13 (2007) (10)
SYSTEMATIC SCREENING FOR PHYTOCHEMICALS OF VARIOUS SOLVENT EXTRACTS OFTHEVETIA PERUVIANA SCHUM. LEAVES AND FRUIT RIND (2014) (10)
SPECTROPHOTOMETRIC SCREENING OF POTENT BACTERICIDAL PROPERTY OF THEVETIA PERUVIANA SCHUM. LEAF AND FRUIT RIND EXTRACTS ON CLINICAL AND PLANT PATHOGENS (2014) (10)
OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis (2016) (10)
Clinical and genetic heterogeneity in peroneal muscular atrophy associated with vocal cord weakness (2002) (10)
IN VITRO CYTOTOXIC ACTIVITY OF CLERODENDRUM INFORTUNATUM L. AGAINST T47D, PC-3, A549 AND HCT-116 HUMAN CANCER CELL LINES AND ITS PHYTOCHEMICAL SCREENING (2015) (10)
Features of NSD1-positive Sotos syndrome. (2004) (8)
Exploring the link between MORF4L1 and risk of breast cancer (2011) (8)
Testicular germ cell tumor susceptibility associated with the UCK 2 locus on chromosome 1 q 23 (2013) (7)
A new gene on the X involved in Fanconi anemia (2004) (7)
PHYTOCHEMICAL PROFILING OF SUCCESSIVE EXTRACTS OF FRUIT AND STEM BARK OF SOLANUM PUBESCENS (2014) (7)
881PDIMPLEMENTATION OF ROUTINE BRCA GENE TESTING OF OVARIAN CANCER (OC) PATIENTS AT ROYAL MARSDEN HOSPITAL. (2014) (6)
The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance (2018) (6)
Skeletal muscle involvement in infantile systemic hyalinosis. (2003) (6)
Distal spinal muscular atrophy with vocal cord paralysis (dSMA-VII) is not linked to the MPD2 locus on chromosome 5q31 (2000) (6)
A genome-wide association study identifies susceptibility loci for Wilms tumor (2012) (6)
The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis. (2016) (5)
CoverView: a sequence quality evaluation tool for next generation sequencing data (2018) (5)
Erratum: Corrigendum: A common coding variant in CASP8 is associated with breast cancer risk (2007) (5)
CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting (2015) (5)
Genomic variant sharing: a position statement. (2019) (4)
Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC) (2012) (4)
Mainstreaming genetic counselling for genetic testing of BRCA1 and BRCA2 in ovarian cancer patients in Malaysia (MaGiC study). (2017) (4)
Antibacterial Activity of Solanum pubescens - An Ethnomedicinal Plant from South Western Region of Andhra Pradesh (2014) (4)
The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing (2018) (4)
Localisation and characterisation of the familial tumour gene, FWT1. (1999) (3)
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans (2021) (3)
Genetic Predisposition to Wilms Tumour (2014) (2)
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. (2015) (2)
Investigating the genetic relationship between Alzheimer’s disease and cancer using GWAS summary statistics (2017) (2)
Corrigendum: Realizing the promise of cancer predisposition genes (2014) (2)
Proffered Papers and Posters Presented at the Seventh International Symposium on Hereditary Breast and Ovarian Cancer—BrcA: From the Personal to the Population (2018) (2)
Chromosomal instability by mutations in a novel specificity factor of the minor spliceosome (2020) (2)
A discrete event simulation to evaluate the cost effectiveness of germline BRCA1 and BRCA2 testing in UK women with ovarian cancer (2016) (2)
Antioxidant and anti-inflammatory potentials of Solanum pubescens Willd an ethnomedicinal plant of South Western Andhra Pradesh, India (2019) (2)
Localisation of the gene for distal Hereditary Motor Neuronopathy-VII to chromosome 2 (2000) (1)
A discrete event simulation to evaluate the cost effectiveness of germline BRCA 1 and BRCA 2 testing in UK women with ovarian cancer (2016) (1)
A pilot study investigating feasibility of mainstreaming germline BRCA1 and BRCA2 testing in high-risk patients with breast and/or ovarian cancer in three tertiary Cancer Centres in Ireland (2022) (1)
Transcript expression-aware annotation improves rare variant interpretation (2020) (1)
Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height (2018) (1)
Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth (2019) (1)
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (2021) (1)
Mosaic variegated aneuploidy syndrome (2012) (1)
Absence of the TRIP13 c.1060C>T Mutation in Wilms Tumor Patients From Pakistan (2019) (1)
Corrigendum: A common coding variant in CASP8 is associated with breast cancer risk (2007) (1)
The ICR639 CPG NGS validation series (2018) (1)
Solanum pubescens wild fruits essential oil - A golden casket for its antimicrobial and anti-inflammatory mediated wound healing efficacy in vertebrate model Mus musculus. (2022) (1)
Intragenic mutations of NSD1 are a major cause of Sotos syndrome and Weaver syndrome but do not account for other overgrowth phenotypes (2002) (1)
DICER1 syndrome - a pleiotropic tumor predisposition syndrome (2010) (1)
Identiﬁcation of four novel susceptibility loci for oestrogen receptor negative breast cancer (2016) (1)
Hyperlipidaemic pancreatitis in pregnancy (2010) (1)
Breast Cancer Risk and 6 q 22 . 33 : Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA 1 / 2 (2012) (1)
Development of cancer genetic services in the UK: A national consultation (2015) (0)
Cross-cancer genome-wide association analysis of lung, ovary, breast, prostate and colon cancer identifies a novel cancer locus at 1q22 (2015) (0)
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans (2021) (0)
Table 1. [Molecular Genetic Testing Used in EZH2-Related Overgrowth]. (2015) (0)
Common germline polymorphisms associated with breast cancer-specific survival (2015) (0)
An international interlaboratory study of complex pathogenic variants in hereditary breast/ovarian cancer (2018) (0)
Molecular and phenotypic analyses of 35 familial Wilms tumor pedigrees. (2003) (0)
The effect of LRRK2 loss-of-function variants in humans (2020) (0)
[Table, GeneReview Scope]. (2014) (0)
A structural variation reference for medical and population genetics (2020) (0)
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2020) (0)
Table 1. [Molecular Genetic Testing Used in Sotos Syndrome]. (2015) (0)
A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer (2018) (0)
Abstract A27: A noncoding polymorphism in a GATA-containing enhancer element drives the association of LMO1 with neuroblastoma (2014) (0)
Ponatinib-Induced Adverse Effects: Thrombocytopenia, Pancreatitis and Hepatoxicity-- A Case Report (2014) (0)
Knowledge Integration is the Key to Variant Interpretation (2017) (0)
Genetic heterogeneity in familial Wilms tumour (1999) (0)
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series. (2018) (0)
Six Techniques and Tools to Maximize Student Learning in the ESOL Classroom (2008) (0)
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. (2014) (0)
RNF135, a gene within the 17q11 NF1-microdeletion region, is responsible for a new autosomal dominant overgrowth syndrome with reduced penetrance (2007) (0)
HNPCC - Where does the buck stop? (2004) (0)
A genome-wide association study identifies susceptibility loci for Wilms tumor (2013) (0)
A Consistent Model for BRCA testing in the Pan-Thames Region (2012) (0)
The Children's Hospital of Philadelphia Research Institute Impact Factor Report, FY2008 (2008) (0)
No evidence for PTEN mutations as a cause of Sotos syndrome (2000) (0)
Case-control mutation screening – insights and lessons from breast cancer susceptibility (2008) (0)
Award Number: W81XWH-05-1-0204 TITLE: Identification, Characterisation and Clinical Development of the New General of Breast Cancer Susceptibility Alleles (2007) (0)
Facial dysmorphism and digit anomalies in three siblings with severe developmental delay (2011) (0)
Gene Disease Map (GDM) beta - July 2018 (2018) (0)
Nazneen Rahman: In tune with genetics (2017) (0)
Breast-Cancer Risk in Families With Mutations in PALB2 EDITORIAL COMMENT (2014) (0)
Mutations in capillary morphogenesis protein 2 cause hyaline deposition disorders (2003) (0)
Association of rs12662670 with breast cancer in Asian ER (2012) (0)
CHROMOSOMAL ANALYSIS IN PATIENTS WITH HEMIHYPERTROPHY: IDENTIFICATION OF A PATIENT SUBGROUP AT INCREASED RISK OF WILMS TUMOUR (2008) (0)
Figure 2. [Mild hyperextension of the distal...]. (2015) (0)
A discrete event simulation model was developed that included the risks of breast and ovarian cancer, the costs, utilities and effects of risk-reducing surgery on cancer rates, and the costs, utilities and mortality rates associated with cancer. (2016) (0)
Antioxidant, anti-inflammatory and wound healing properties of ethanolic extracts of Thevetia peruviana (Pers.) K. Schum (2018) (0)
Mutation and association analysis of in breast cancer susceptibility (2020) (0)
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series (2018) (0)
IN VITRO CYTOTOXIC ACTIVITY OF CLERODENDRUM INFORTUNATUM L. AGAINST T47D, PC- 3, A549 AND HCT-116 HUMAN CANCER CELL LINES AND ITS PHYTOCHEMICAL SCREENING Original Article (2016) (0)
Table 2. [EZH2 Pathogenic Variants Discussed in This GeneReview]. (2015) (0)
Author Correction: A structural variation reference for medical and population genetics (2021) (0)
A cost analysis of a cancer genetic service model in the UK (2016) (0)
A multi-sector approach to improve nutrition: Experiences of the Nutrition at the Center project, Bangladesh (2019) (0)
Evaluating drug targets through human loss-of-function genetic variation (2020) (0)
The mutational constraint spectrum quantified from variation in 141,456 humans (2020) (0)
Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data (2019) (0)
Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial (2018) (0)
Recognition of and Response to Neonatal Intrapartum-related Complications in Home-birth Settings in Bangladesh (2014) (0)
Genetic and dysmorphic syndromes with increased stature (2007) (0)
Massively parallel sequencing of the X chromosome coding exons for the identification of novel X-linked disease genes (2009) (0)
The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis (2018) (0)
Author Correction: Evaluating drug targets through human loss-of-function genetic variation (2021) (0)
Abstract P4-06-08: An interlaboratory study of complex mutation detection in genes associated with hereditary breast and ovarian cancer highlights both successes and current challenges (2018) (0)
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (2020) (0)
Ten variants associated with risk of estrogen receptor negative breast cancer (2016) (0)
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus (2016) (0)
Abstract 4705: Integrating germline cancer predisposition gene testing into routine clinical practice - The Mainstreaming Cancer Genetics programme (2014) (0)
Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2021) (0)
Frequency of BRCA1 and BRCA2 Germline Variants in Women With Ovarian Cancer in Malaysia (2018) (0)
Author Correction: Transcript expression-aware annotation improves rare variant interpretation (2021) (0)
Corrigendum: Mutations in the transcriptional repressor REST predispose to Wilms tumor (2016) (0)
♦ a Mainstreamed Oncogenetic Pathway Delivers Fast, Affordable Routine Brca Testing for Ovarian Cancer (oc) Patients (2015) (0)
Identification and characterisation of novel associations in the CASP 8 / ALS 2 CR 12 region 1 on chromosome 2 with breast cancer risk 2 3 (2014) (0)
Clinical Annotation Reference Templates: a resource for consistent variant annotation (2018) (0)
PITX 3 gene consequence of a recurrent mutation in the Posterior polar cataract is the predominant (2005) (0)
No evidence for PTEN mutations as a common cause of Sotos syndrome or autosomal dominant macrocephaly (2000) (0)
Identification, Characterization, and Clinical Development of the New Generation of Breast Cancer Susceptibility Alleles (2008) (0)
The ICR 142 NGS validation series : a resource for orthogonal assessment of NGS analysis [ version 1 ; referees : awaiting peer review ] (2016) (0)
SNP rs2180341 per-allele hazard ratios (HRs) and 95% confidence intervals (CIs) among Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) in A. BRCA1 mutation carriers B. BRCA2 mutation carriers. (2012) (0)
Edinburgh Research Explorer Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer (2018) (0)
Clinical Annotation Reference Templates (CARTs) (2018) (0)

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