T. Dudding

发表

Maternal factor V Leiden and adverse pregnancy outcome: deciding whether or not to test

J. Attia, T. Dudding, 2012, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

A Randomized Controlled Trial of a Decision Aid for Women at Increased Risk of Ovarian Cancer

J. Kirk, M. Friedlander, B. Meiser, 2006, Medical decision making : an international journal of the Society for Medical Decision Making.

Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss‐of‐function filaminopathies

S. Robertson, M. Hannibal, J. Pilch, 2018, Human mutation.

Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion

A. Ronan, K. Buiting, T. Dudding, 2008, American journal of medical genetics. Part A.

Factor V Leiden is associated with pre‐eclampsia but not with fetal growth restriction: a genetic association study and meta‐analysis

S. Ring, J. Golding, A. Thakkinstian, 2008, Journal of thrombosis and haemostasis : JTH.

Reproductive decisions after neonatal screening identifies cystic fibrosis

B. Wilcken, B. Burgess, G. Turner, 2000, Archives of disease in childhood. Fetal and neonatal edition.

Somatic‐gonadal mosaicism causing Sotos syndrome

R. Scott, C. Meldrum, B. Kamien, 2016, American journal of medical genetics. Part A.

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Lijia Huang, K. Boycott, D. Bulman, 2012, Orphanet Journal of Rare Diseases.

Homologous recombination DNA repair defects in PALB2-associated breast cancers

I. Hickie, L. Lipton, A. Shelling, 2019, npj Breast Cancer.

Knowledge of risk management strategies, and information and risk management preferences of women at increased risk for ovarian cancer

L. Andrews, M. Friedlander, B. Meiser, 2005, Psycho-oncology.

The association between adverse pregnancy outcomes and maternal factor V Leiden genotype: a meta-analysis

J. Attia, T. Dudding, 2004, Thrombosis and Haemostasis.

A randomized controlled trial of a decision aid for women considering genetic testing for breast and ovarian cancer risk

Elizabeth Lobb, Judi Homewood, Michelle Peate, 2007, Breast Cancer Research and Treatment.

Lessons from the skin--cutaneous features of familial cancer.

I. Winship, T. Dudding, 2008, The Lancet. Oncology.

Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia

D. Francis, R. Heard, H. Slater, 2016, Genes.

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

William B Dobyns, Renske Oegema, A. Green, 2015, Human molecular genetics.

Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus

R I Richards, K. Friend, R. Richards, 2004, Neurology.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Development of a Communication Aid to Facilitate Risk Communication in Consultations with Unaffected Women from High Risk Breast Cancer Families: A Pilot Study

P. Butow, J. Kirk, A. Barratt, 2006, Journal of Genetic Counseling.

Carbimazole/methimazole embryopathy in siblings: a possible genetic susceptibility.

H. Goel, T. Dudding, 2013, Birth defects research. Part A, Clinical and molecular teratology.

Human RNA Nm-MTase FTSJ1: new tRNA targets and role in the regulation of brain-specific genes

J. Gécz, M. Delatycki, T. Ye, 2022 .

Molecular genetic tests in surgical management of familial adenomatous polyposis

D. Evans, J. Burn, E. Maher, 1997, The Lancet.

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

Sarah H Elsea, S. Elsea, Hoa T Truong, 2010, BMC Medical Genetics.

Risk perceptions and knowledge of breast cancer genetics in women at increased risk of developing hereditary breast cancer

P. Butow, K. Tucker, A. Barratt, 2001 .

Factor V Leiden and adverse pregnancy outcome

T. Dudding, 2012 .

Molecular genetic tests in surgical management of familial adenomatous polyposis

D. Evans, J. Burn, E. Maher, 1998, The Lancet.

Response to rebuttal: Meta-analysis of the relationship of factor V Leiden and intrauterine growth restriction – based on solid evidence?

J. Attia, T. Dudding, 2005, Thrombosis and Haemostasis.

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA

Alice R. Clark, A. R. Clark, S. Robertson, 2015, Journal of Molecular Medicine.

Risk-reducing surgery in women with familial susceptibility for breast and/or ovarian cancer.

J. Kirk, M. Young, Y. Antill, 2006, European journal of cancer.

The virtual consultation: practitioners' experiences of genetic counseling by videoconferencing in Australia.

B. Meiser, K. Barlow-Stewart, E. Lobb, 2010, Telemedicine journal and e-health : the official journal of the American Telemedicine Association.

Neonatal screening for cystic fibrosis

G. Turner, B. Wilcken, T. Dudding, 2000, The Lancet.

Genome-wide association study identifies novel breast cancer susceptibility loci

Lester L. Peters, A. Uitterlinden, D. Cox, 2007, Nature.

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Jane E. Carpenter, W. Chung, M. Beckmann, 2019, npj Breast Cancer.

Homologous recombination DNA repair defects in PALB2-associated breast cancers

I. Hickie, L. Lipton, A. Shelling, 2019, npj Breast Cancer.