Z. Miedzybrodzka

发表

Common genetic variants on 1p13.2 associate with risk of autism

Z. Hu, D. St. Clair, Y. Hu, 2014, Molecular Psychiatry.

Parenting a child with clubfoot: A qualitative study

Edwin van Teijlingen, Simon Barker, Z. Miedzybrodzka, 2011 .

An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort

Javier Santoyo-Lopez, C. Semple, C. Haley, 2019, Scientific Reports.

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

The essential role of genetic counseling in inherited thrombophilia.

P. Lochhead, Z. Miedzybrodzka, 2007, Seminars in hematology.

Micro-magnetic resonance imaging and embryological analysis of wild-type and pma mutant mice with clubfoot

C. Tickle, Z. Miedzybrodzka, Katy Schmidt, 2009, Journal of anatomy.

Genetics and epidemiology of idiopathic congenital talipes equinovarus.

Z. Miedzybrodzka, N. Maffulli, D. Chesney, 2003, Journal of pediatric orthopedics.

Genetics and epidemiology of idiopathic congenital talipes equinovarus.

Z. Miedzybrodzka, N. Maffulli, D. Chesney, 2003, Journal of pediatric orthopedics.

The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population

S. Tishkoff, M. Hayden, N. Gerry, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Amniocentesis in the second trimester and congenital talipes equinovarus in the offspring: a population‐based record linkage study in Scotland

Z. Miedzybrodzka, L. Sharp, N. Torrance, 2009, Prenatal diagnosis.

Lymphocyte Telomere Length Is Long in BRCA1 and BRCA2 Mutation Carriers Regardless of Cancer-Affected Status

R. Eeles, D. Easton, A. Antoniou, 2014, Cancer Epidemiology, Biomarkers & Prevention.

Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland

M. Ryan, Z. Miedzybrodzka, R. McGowan, 2021, Journal of Community Genetics.

Interactions between anti-EGFR therapies and cytotoxic chemotherapy in oesophageal squamous cell carcinoma: why clinical trials might have failed and how they could succeed

Z. Miedzybrodzka, G. Murray, R. Petty, 2020, Cancer Chemotherapy and Pharmacology.

Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK

S. Humphries, Z. Miedzybrodzka, M. Kerr, 2017, European heart journal.

Huntington disease reduced penetrance alleles occur at high frequency in the general population

M. Hayden, N. Gerry, Z. Miedzybrodzka, 2016, Neurology.

27 years of Pprenatal Ddiagnosis for Huntington disease in the United Kingdom

Tomlinson, D. Craufurd, A. Clarke, 2019 .

Years of Prenatal Diagnosis for Huntington Disease : Still an Important Option despite the Increasing Use of Preimplantation Genetic Diagnosis

Abdulrahman, D. Craufurd, A. Clarke, 2019 .

Is There Evidence for Aetiologically Distinct Subgroups of Idiopathic Congenital Talipes Equinovarus? A Case-Only Study and Pedigree Analysis

R. Hennekam, Z. Miedzybrodzka, L. Sharp, 2011, PloS one.

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.

Enrico Amico, Philippe Allain, Mark Mühlau, 2017, The Lancet. Neurology.

Antenatal screening for carriers of cystic fibrosis: randomised trial of stepwise v couple screening

T. Marteau, Z. Miedzybrodzka, N. Haites, 1995, BMJ.

GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes

A. Hattersley, S. Ellard, C. Shaw-Smith, 2014, Diabetes.

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

D. Turnbull, E. Holme, B. Andresen, 2007, Brain : a journal of neurology.

Haemochromatosis mutations in North‐East Scotland

Z. Miedzybrodzka, N. Haites, M. Pippard, 1999, British journal of haematology.

Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.

R. Houlston, S. Hanks, P. Law, 2022, Annals of oncology : official journal of the European Society for Medical Oncology.

Evaluation of laboratory methods for cystic fibrosis carrier screening: reliability, sensitivity, specificity, and costs.

Z. Miedzybrodzka, N. Haites, K. Kelly, 1994, Journal of medical genetics.

Prenatal diagnosis for the cystic fibrosis mutation 1717‐1, G→A using arms

Z. Miedzybrodzka, N. Haites, S. Little, 1992, Prenatal diagnosis.

sensitivity , specificity , and costs . fibrosis carrier screening : reliability , Evaluation of laboratory methods for cystic

Z. Miedzybrodzka, N. Haites, K. Kelly, 2022 .

Screening for cystic fibrosis

Z. Miedzybrodzka, N. Haites, J. Britton, 1991, The Lancet.

Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1α gene: implications for predictive testing

S. Ellard, Z. Miedzybrodzka, N. Haites, 1999, European Journal of Human Genetics.

Interactions between anti-EGFR therapies and cytotoxic chemotherapy in oesophageal squamous cell carcinoma: why clinical trials might have failed and how they could succeed

Z. Miedzybrodzka, G. Murray, R. Petty, 2020, Cancer Chemotherapy and Pharmacology.

A new approach to prenatal cystic fibrosis carrier screening.

Z. Miedzybrodzka, N. Haites, J. Dean, 1993, Journal of medical genetics.

Case-control study of epidermal growth factor receptor (EGFR) gene in head and neck cancer (HNC)

Z. Miedzybrodzka, T. Macfarlane, G. Echejoh, 2014 .

Assessing the effectiveness of NICE criteria for stratifying breast cancer risk in a UK cohort

D. Goudie, Z. Miedzybrodzka, L. Jordan, 2018, European Journal of Human Genetics.

The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services

Diana M Eccles, Sue Thomas, Angela F Brady, 2014, Breast Cancer Research.

Stored tissue may be important for the future care of families

Z. Miedzybrodzka, N. Haites, J. Dean, 2001, BMJ : British Medical Journal.

22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium

D. Craufurd, A. Clarke, Z. Miedzybrodzka, 2016, European Journal of Human Genetics.

Letter in Response to Tibben et al., Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners.

D. Craufurd, A. Clarke, R. Macleod, 2019, Journal of Huntington's disease.

Antenatal cystic fibrosis carrier screening--whether, when and how?

T. Marteau, Z. Miedzybrodzka, N. Haites, 1993, Paediatric and perinatal epidemiology.

Screening for cystic fibrosis: medical and ethical issues

Z. Miedzybrodzka, N. Haites, 1993 .

Incorrect recall of residual risk three years after carrier screening for cystic fibrosis: a comparison of two-step and couple screening.

S. Michie, Z. Miedzybrodzka, T. Marteau, 1999, American journal of obstetrics and gynecology.

Mutation of genes controlling mRNA metabolism and protein synthesis predisposes to neurodevelopmental disorders.

C. McCaig, Z. Miedzybrodzka, B. Müller, 2015, Biochemical Society transactions.

Preimplantation diagnosis or chorionic villus biopsy? Women's attitudes and preferences.

Z. Miedzybrodzka, N. Haites, J. Mollison, 1993, Human reproduction.

Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome *

S. Eyre, Z. Miedzybrodzka, J. Lear, 2022, The British journal of dermatology.

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

W. Reardon, D. Cooper, Y. Crow, 2005, Journal of Medical Genetics.

Prevalence of cystic fibrosis mutations in the Grampian region of Scotland.

Z. Miedzybrodzka, N. Haites, J. Dean, 1993, Journal of medical genetics.

Probability estimation models for prediction of BRCA1 and BRCA2 mutation carriers: COS compares favourably with other models

Z. Miedzybrodzka, N. Haites, Hassan Roudgari, 2007, Familial Cancer.

Congenital talipes equinovarus (clubfoot): a disorder of the foot but not the hand

Z. Miedzybrodzka, 2003, Journal of anatomy.

Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report

Z. Miedzybrodzka, C. Hardy, P. Farndon, 2012, Clinical genetics.

Re: Andrade NN, Raikwar K. Congenital benign teratoma of the tongue with bifid tip, ankyloglossia and polydactyly: report of case.

Z. Miedzybrodzka, P. Ayliffe, T. Walker, 2012, The British journal of oral & maxillofacial surgery.

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus

A. Whittemore, L. Kiemeney, S. Cross, 2016, Nature Communications.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Martin A. M. Reijns, J. Rosenfeld, Sancha Martin, 2018, American journal of human genetics.

Epidemiology and genetic theories in the etiology of congenital talipes equinovarus.

Z. Miedzybrodzka, N. Maffulli, N. Haites, 1999, Bulletin (Hospital for Joint Diseases (New York, N.Y.)).

Germline mutations in RAD51D confer susceptibility to ovarian cancer

Deborah Hughes, Nazneen Rahman, Elise Ruark, 2011, Nature Genetics.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, G. J. Swaminathan, A. Green, 2019 .

Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.

Diana Eccles, Susan Peock, Rosemarie Davidson, 2013, Journal of the National Cancer Institute.

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

D. Geschwind, P. Svenningsson, J. Pariente, 2015, Nature Genetics.

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

D. Geschwind, P. Mazzoni, P. Svenningsson, 2013, neurogenetics.

The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services

A. Howell, D. Eccles, D. Evans, 2014, Breast Cancer Research.

New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy

M. Groves, Z. Miedzybrodzka, H. Houlden, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

Variants in the fetal genome near FLT1 are associated with risk of preeclampsia

D. Lawlor, U. Thorsteinsdóttir, K. Stefánsson, 2017 .

The developmental and genetic basis of ‘clubfoot’ in the peroneal muscular atrophy mutant mouse

Z. Miedzybrodzka, K. Wallace, N. Lindström, 2018, Development.

Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia: a systematic review and economic evaluation.

G. Mowatt, Z. Miedzybrodzka, W. Simpson, 2012, Health technology assessment.

Routine germline BRCA1 and BRCA2 testing in patients with ovarian carcinoma: analysis of the Scottish real‐life experience

R. Glasspool, I. McNeish, M. Porteous, 2018, BJOG : an international journal of obstetrics and gynaecology.

Gefitinib and EGFR Gene Copy Number Aberrations in Esophageal Cancer.

Z. Miedzybrodzka, D. Ferry, G. Murray, 2017, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Optimized EGFR Blockade Strategies in EGFR Addicted Gastroesophageal Adenocarcinomas

V. Miller, A. Sapino, B. Alexander, 2021, Clinical Cancer Research.

Epidermal Growth Factor (EGFR) copy number aberrations in esophageal and gastro-esophageal junctional carcinoma

Z. Miedzybrodzka, D. Ferry, G. Murray, 2015, Molecular Cytogenetics.

Full UPF3B function is critical for neuronal differentiation of neural stem cells

C. McCaig, Z. Miedzybrodzka, B. Müller, 2015, Molecular Brain.

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Christiana Kartsonaki, Mads Thomassen, Etienne Rouleau, 2011, Human molecular genetics.

Epidermal Growth Factor ( EGFR ) copy number aberrations in esophageal and gastroesophageal junctional carcinoma

Z. Miedzybrodzka, D. Ferry, G. Murray, 2015 .

How young people find out about their family history of Huntington's disease.

L. McKee, Z. Miedzybrodzka, S. Simpson, 2009, Social science & medicine.

Deregulation of EIF4E: a novel mechanism for autism

D. Clair, Z. Miedzybrodzka, S. Shen, 2009, Journal of Medical Genetics.

Antibody deficiency in Rubinstein‐Taybi syndrome

Z. Miedzybrodzka, R. Herriot, 2016, Clinical genetics.

autism Deregulation of EIF 4 E : a novel mechanism for

D. Clair, Z. Miedzybrodzka, M. Neves-Pereira, 2009 .

Tissue specific characterisation of Lim-kinase 1 expression during mouse embryogenesis.

Z. Miedzybrodzka, N. Lindström, N. Vargesson, 2011, Gene expression patterns : GEP.

Germline intergenic duplications at Xq26.1 underlie Bazex-Dupre-Christol syndrome, an inherited basal cell carcinoma susceptibility condition

S. Eyre, W. Newman, Z. Miedzybrodzka, 2022, medRxiv.

, patients in both classical and atypical Rett syndrome gene are foundMECP 2 Gross rearrangements

W. Reardon, D. Cooper, Y. Crow, 2006 .

, in both classical and atypical Rett Syndrome Gross rearrangements of the MECP 2 gene are found

W. Reardon, D. Cooper, Y. Crow, 2005 .

Folate and breast cancer: the role of polymorphisms in methylenetetrahydrofolate reductase (MTHFR).

J. Little, Z. Miedzybrodzka, N. Haites, 2002, Cancer letters.

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

Peter Donnelly, Mark I. McCarthy, Nazneen Rahman, 2012, Nature.

The C677T polymorphism in the methylenetetrahydrofolate reductase gene (MTHFR), maternal use of folic acid supplements, and risk of isolated clubfoot: A case-parent-triad analysis.

Z. Miedzybrodzka, N. Maffulli, L. Sharp, 2006, American journal of epidemiology.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Prothrombotic Genotypes Are not Associated with Pre-eclampsia and Gestational Hypertension: Results from a Large Population-based Study and Systematic Review

Z. Miedzybrodzka, N. Haites, E. R. Morrison, 2002, Thrombosis and Haemostasis.

3D MRI Analysis of the Lower Legs of Treated Idiopathic Congenital Talipes Equinovarus (Clubfoot)

F. Gilbert, Z. Miedzybrodzka, J. M. Collinson, 2013, PloS one.

Genetic information but not termination: pregnant women's attitudes and willingness to pay for carrier screening for deafness genes

Z. Miedzybrodzka, L. Fraser, M. Ryan, 2003, Journal of medical genetics.

Pedigree analysis and epidemiological features of idiopathic congenital talipes equinovarus in the United Kingdom: a case-control study

Z. Miedzybrodzka, N. Maffulli, L. Sharp, 2007, BMC musculoskeletal disorders.

Identical intragenic microsatellite haplotype found in cystic fibrosis chromosomes bearing mutation G551D in Irish, English, Scottish, Breton and Czech patients.

Z. Miedzybrodzka, M. García-Delgado, M. Macek, 1995, Human heredity.

Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus

R. Hennekam, D. Shaw, Z. Miedzybrodzka, 2008, BMC Medical Genetics.

Young people’s experiences of growing up in a family affected by Huntington’s disease

L. McKee, Z. Miedzybrodzka, S. Simpson, 2007, Clinical genetics.

Feasibility study to assess the impact of a lifestyle intervention (‘LivingWELL’) in people having an assessment of their family history of colorectal or breast cancer

N. Mutrie, R. Steele, Z. Miedzybrodzka, 2018, BMJ Open.

Cluster randomized trial of a multifaceted primary care decision-support intervention for inherited breast cancer risk.

Sarah Wordsworth, Adrian Grant, Jill Mollison, 2006, Family practice.

Young-onset colorectal cancer in the North East of Scotland: survival, clinico-pathological features and genetics

Z. Miedzybrodzka, L. Samuel, K. Laws, 2019, BMC Cancer.

Sporadic implementation of UK familial mammographic surveillance guidelines 15 years after original publication

S. Duffy, D. Evans, D. Halliday, 2019, British Journal of Cancer.

Teaching undergraduates about familial breast cancer: comparison of a computer assisted learning (CAL) package with a traditional tutorial approach

Z. Miedzybrodzka, N. Haites, J. Mollison, 2001, European Journal of Human Genetics.

Factor analysis can be a useful standard setting tool in a high stakes OSCE assessment

Z. Miedzybrodzka, J. Brittenden, S. Heys, 2004, Medical education.

22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium

D. Craufurd, A. Clarke, Z. Miedzybrodzka, 2016, European Journal of Human Genetics.

Severe Hypertriglyceridaemia and Chylomicronaemia Syndrome—Causes, Clinical Presentation, and Therapeutic Options

Z. Miedzybrodzka, A. Wierzbicki, G. Ferns, 2023, Metabolites.

Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories

M. Tassabehji, D. Barton, G. Taylor, 1995, Human mutation.

Gene-gene interactions in breast cancer susceptibility.

Deborah Hughes, Peter Donnelly, Jonathan Berg, 2012, Human molecular genetics.

Health Care Delivery Practices in Huntington’s Disease Specialty Clinics: An International Survey

E. Nelson, Z. Miedzybrodzka, M. Nance, 2016, Journal of Huntington's disease.

The Human Genome: A User’s Guide

Z. Miedzybrodzka, 1999, Heredity.

Performance of the 12-item WHODAS 2.0 in prodromal Huntington disease

Jane S. Paulsen, Stephen M. Rao, P. Mazzoni, 2015, European Journal of Human Genetics.

Parents’ views of genetic testing and treatment of familial hypercholesterolemia in children: a qualitative study

L. McKee, Z. Miedzybrodzka, W. Simpson, 2018, Journal of Community Genetics.

Help or hindrance: young people's experiences of predictive testing for Huntington's disease

L. McKee, Z. Miedzybrodzka, K. Forrest Keenan, 2015, Clinical genetics.

Genetics professionals’ experiences of facilitating parent/child communication through the genetic clinic

L. McKee, Z. Miedzybrodzka, K. Keenan, 2020, Journal of genetic counseling.

Genetic nurse counsellors can be an acceptable and cost-effective alternative to clinical geneticists for breast cancer risk genetic counselling. Evidence from two parallel randomised controlled equivalence trials

A. Grant, A. Clarke, Z. Miedzybrodzka, 2006, British Journal of Cancer.

27 years of prenatal diagnosis for Huntington disease in the United Kingdom

D. Craufurd, A. Clarke, Z. Miedzybrodzka, 2018, Genetics in Medicine.

Prenatal Diagnosis for Huntington Disease: Still an Important Option despite the Increasing Use of Pre-implantation Genetic Diagnosis

Abdulrahman, D. Craufurd, A. Clarke, 2019 .

Fragile X syndrome with FMR1 and FMR2 deletion

Z. Miedzybrodzka, J. Dean, K. Kelly, 1999, Journal of medical genetics.

The known burden of Huntington disease in the North of Scotland: prevalence of manifest and identified pre-symptomatic gene expansion carriers in the molecular era

Z. Miedzybrodzka, S. Kastora, G. Kounidas, 2021, Journal of Neurology.

22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium

D. Craufurd, A. Clarke, Z. Miedzybrodzka, 2017, European Journal of Human Genetics.

How Do Partners Find out About the Risk of Huntington’s Disease in Couple Relationships?

Z. Miedzybrodzka, D. Alexander, S. Simpson, 2013, Journal of Genetic Counseling.

A case-note review of continued pregnancies found to be at a high risk of Huntington’s disease: considerations for clinical practice

A. Clarke, R. Macleod, S. Holden, 2019, European Journal of Human Genetics.

Another example favouring the location of BPES at 3q2.

Z. Miedzybrodzka, N. Haites, J. Dean, 1993, Journal of medical genetics.

Screening for cystic fibrosis

Z. Miedzybrodzka, N. Haites, J. Britton, 1991, The Lancet.

Variants in the fetal genome near FLT1 are associated with risk of preeclampsia

D. Lawlor, U. Thorsteinsdóttir, K. Stefánsson, 2017, Nature Genetics.

Huntington disease reduced penetrance alleles occur at high frequency in the general population

M. Hayden, N. Gerry, Z. Miedzybrodzka, 2016, Neurology.

Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.

R. Eeles, D. Easton, A. Antoniou, 2013, Journal of the National Cancer Institute.

Screening for carriers of cystic fibrosis.

Z. Miedzybrodzka, J. Dean, A. Shrimpton, 1991, BMJ.

22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium

D. Craufurd, A. Clarke, Z. Miedzybrodzka, 2016, European Journal of Human Genetics.

22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium

D. Craufurd, A. Clarke, Z. Miedzybrodzka, 2016, European Journal of Human Genetics.

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.

V. Pankratz, F. Couch, T. Rebbeck, 2011, Human molecular genetics.