D. Goudie

发表

Mutations in the iodotyrosine deiodinase gene and hypothyroidism.

M. Polak, J. Moreno, W. Klootwijk, 2008, The New England journal of medicine.

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

The phenotypic spectrum of SCN8A encephalopathy

G. Carvill, I. Scheffer, H. Mefford, 2015, Neurology.

Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

Barry Merriman, Chandra Verma, Hane Lee, 2011, Nature Genetics.

Mutations in the chromatin‐associated protein ATRX

I. Krantz, D. Goudie, D. Steensma, 2008, Human mutation.

The UK national study of magnetic resonance imaging as a method of screening for breast cancer (MARIBS).

M O Leach, F J Gilbert, O W Quarrell, 2002, Journal of experimental & clinical cancer research : CR.

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 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Phenotypic Comparison of Two Scottish Families with Mutations in Different Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

I. Scheffer, J. Tolmie, S. Berkovic, 2003, Epilepsia.

Rapid determination of sequences flanking microsatellites.

M. Yuille, M. Ferguson-Smith, D. Goudie, 1991, Nucleic acids research.

Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies.

J. McGrath, D. Goudie, C. Willoughby, 2002, The Journal of investigative dermatology.

Trimethylaminuria (fish-odor syndrome): a case report.

D. Goudie, G. Arseculeratne, Alvin Wong, 2007, Archives of dermatology.

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

S. Seal, N. Rahman, D. Baralle, 2014, Nature genetics.

UNSTABLE MUTATIONS IN VITILIGO, ORGAN- SPECIFIC AUTOIMMUNE DISEASES, AND MULTIPLE ENDOCRINE ADENOMA/PEPTIC- ULCER SYNDROME

R. B. Goudie, M. Ferguson-Smith, D. Goudie, 1980, The Lancet.

Lifestyle Changes in Women at Genetic Risk of Breast Cancer: an Observational Study

D. Goudie, C. Steel, M. Harvie, 2013, International Journal of Behavioral Medicine.

Analysis of referrals to a multi-disciplinary breast cancer genetics clinic: practical and economic considerations

D. Goudie, M. Tavakoli, F. Sullivan, 2006, Familial Cancer.

Multiple Self-Healing Squamous Epithelioma (MSSE): A Digenic Trait Associated with Loss of Function Mutations in TGFBR1 and Variants at a Second Linked Locus on the Long Arm of Chromosome 9

D. Goudie, 2020, Genes.

Evaluation of a surveillance programme for women with a family history of breast cancer

D. Goudie, J. Dewar, M. Tavakoli, 2009, Journal of Medical Genetics.

CEPH consortium Map of chromosome 9.

J. Haines, J. Attwood, J. Gusella, 1994, Genomics.

Report of the Second International Workshop on Human Chromosome 9 Mapping 1993

J. Haines, M. Pericak-Vance, S. Povey, 1993 .

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

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis.

D. Goudie, Yiwei Zhao, A. Irvine, 2006, The Journal of investigative dermatology.

A Novel Mutation of NKX2-1 Affecting 2 Generations With Hypothyroidism and Choreoathetosis

S. Greene, D. Goudie, M. Kirkpatrick, 2014, Journal of child neurology.

Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis.

D. Goudie, W. McLean, G. Graham, 2007, The Journal of investigative dermatology.

Trimethylaminuria (Fish-Odor Syndrome)

D. Goudie, G. Arseculeratne, Alvin Wong, 2017 .

Human nocturnal frontal lobe epilepsy : pharmocogenomic profiles of pathogenic nAChR β-subunit mutations outside the ion channel pore

Antonarakis, I. Scheffer, D. Bertrand, 2008 .

Features of multiple self‐healing squamous epithelioma and Loeys‐Dietz syndrome in a patient with a novel TGFBR1 variant

D. Goudie, J. Martindale, G. Poke, 2018, American journal of medical genetics. Part A.

Digenic/multilocus aetiology of multiple self-healing squamous epithelioma (Ferguson-Smith disease): TGFBR1 and a second linked locus.

M. Ferguson-Smith, D. Goudie, 2014, The international journal of biochemistry & cell biology.

Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder?

E. Lane, M. Ferguson-Smith, M. D'alessandro, 2007, The Journal of investigative dermatology.

The elusive multiple self-healing squamous epithelioma (MSSE) gene: further mapping, analysis of candidates, and loss of heterozygosity

M. Ferguson-Smith, D. Goudie, S. Bose, 2006, Oncogene.

Genetic aspects of early childhood scoliosis.

J. Tolmie, D. Goudie, J. M. Connor, 1987, American journal of medical genetics.

Physical mapping within the tuberous sclerosis linkage group in region 9q32-q34.

N. Carter, M. Ferguson-Smith, D. Goudie, 1993, Genomics.

Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members

D. Goudie, S. Ibbotson, G. Elder, 2007, The British journal of dermatology.

Familial breast cancer: management of ‘lower risk’ referrals

D. Goudie, F. Sullivan, G. Ozakinci, 2006, British Journal of Cancer.

Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation

D. Goudie, R. Frants, G. Terwindt, 2009, Epilepsia.

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.

Growth and Skeletal Development in Families with NOGGIN Gene Mutations

D. Goudie, D. Baty, S. Ahmed, 2008, Hormone Research in Paediatrics.

Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype

S. Robertson, D. Goudie, V. Shashi, 2011, American journal of medical genetics. Part A.

Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates

D. Goudie, M. Blitzer, Helio F. Pedro, 2005, Human mutation.

Unusual presentation of Lynch Syndrome

R. Eeles, S. Shanley, A. Barrett, 2009, Hereditary cancer in clinical practice.

Edinburgh Research Explorer Unusual presentation of Lynch Syndrome

R. Eeles, S. Shanley, D. Goudie, 2009 .

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

Colin N A Palmer, Ann Sergeant, Hans Bisgaard, 2006, Nature Genetics.

UNSTABLE MUTATIONS IN VITILIGO

R. B. Goudie, M. Ferguson-Smith, D. Goudie, 1980, The Lancet.

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

J. Clayton-Smith, B. Lorenz, I. Temple, 2016, PloS one.

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

S. Bale, D. Goudie, C. Munro, 2006, Nature Genetics.

Syddansk Universitet Genetic Analysis of ' PAX 6-Negative ' Individuals with Aniridia or Gillespie Syndrome

Stephen, Anthony, I.., 2016 .

Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency).

M. Ferguson-Smith, D. Goudie, N. Affara, 1987, Nucleic acids research.

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

Katrina Tatton-Brown, Nazneen Rahman, Elise Ruark, 2014, Nature Genetics.

Analysis ofFourMicrosatellite Markers on theLongArm ofChromosome9byMeiotic Recombination inFlow-sorted Single Sperm

N. Carter, A. Ferguson-Smith, D. Goudie, 1993 .

A general method for the detection of large CAG repeat expansions by fluorescent PCR.

D. Goudie, D. Fitzpatrick, D J Brock, 1996, Journal of medical genetics.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, 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 .

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

The gene for Aarskog syndrome is located between DXS255 and DXS566 (Xp11.2-Xq13).

D. Goudie, S. Lindsay, M. Porteous, 1992, Genomics.

Faecal haemoglobin concentration in adenoma, before and after polypectomy, approaches the ideal tumour marker

C. Mowat, D. Goudie, R. Steele, 2022, Annals of clinical biochemistry.

Faecal haemoglobin can define risk of colorectal neoplasia at surveillance colonoscopy in patients at increased risk of colorectal cancer

C. Mowat, D. Goudie, R. Steele, 2020, United European gastroenterology journal.

Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation

D. Goudie, M. Sales, S. Simpson, 2003, American journal of medical genetics. Part A.

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.

D. Goudie, T. Pippucci, R. Newbury-Ecob, 2020, Brain : a journal of neurology.

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

J. Hehir-Kwa, B. D. de Vries, D. Baralle, 2020, American journal of human genetics.

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly

D. Baralle, C. Mercer, S. Mehta, 2016, Journal of Medical Genetics.

Multipoint linkage analysis of steroid sulfatase (X-linked ichthyosis) and distal Xp markers.

M. Ferguson-Smith, D. Goudie, N. Affara, 1987, Genomics.

Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL)

D. Goudie, K. Zhou, J. Berg, 2018, Journal of the Endocrine Society.

Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes

M. Ferguson-Smith, I. Barroso, D. Goudie, 1997, Human Genetics.

A male with trisomy 9 mosaicism and maternal uniparental disomy for chromosome 9 in the euploid cell line.

L. Willatt, D. Goudie, B. C. Davison, 1992, Journal of medical genetics.

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Marni J. Falk, Ellen F. Macnamara, J. Schuurs-Hoeijmakers, 2018, Genetics in Medicine.

CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.

I. Scheffer, D. Bertrand, S. Berkovic, 2001, American journal of human genetics.

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

G. Barton, M. Akiyama, H. Shimizu, 2012, Nature Genetics.

An investigation of the Peutz-Jeghers gene (LKB1) in sporadic breast and colon cancers

D. Goudie, F. Carey, S. Defres, 2000, Journal of clinical pathology.

Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing

Sancha Martin, E. Tobias, A. Biankin, 2022, European Journal of Human Genetics.

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

J. Clayton-Smith, B. Gener, D. Goudie, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Predicting breast cancer risk: implications of a “weak” family history

M. Longmuir, D. Goudie, N. Bradshaw, 2008, Familial Cancer.

Prospective surveillance of women with a family history of breast cancer: auditing the risk threshold

M. Longmuir, D. Goudie, N. Bradshaw, 2008, British Journal of Cancer.

Karyotypic aberrations of chromosomes 16 and 17 are related to survival in patients with breast cancer

D. Goudie, M. Sales, C. Steel, 2002, The British journal of surgery.

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

D. Wieczorek, H. Kayserili, D. Goudie, 2013, Human Genetics.

Analysis of four microsatellite markers on the long arm of chromosome 9 by meiotic recombination in flow-sorted single sperm.

N. Carter, M. Ferguson-Smith, D. Goudie, 1993, American journal of human genetics.

Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

Douglas E. V. Pires, Soo-Mi Park, A. Antoniou, 2018, Journal of Medical Genetics.

Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies

A. Gerrish, D. Goudie, T. Cole, 2020, Journal of clinical medicine.

Survival in prospectively ascertained familial breast cancer: Analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy

A. Howell, K. Heimdal, P. Møller, 2002, International journal of cancer.

Tumour risks and genotype–phenotype–proteotype analysis of patients with germline mutations in the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD

D. Goudie, N. Bradshaw, F. Lalloo, 2016, The Lancet.

Multiple Self-Healing Squamous Epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology

E. Lane, A. Balmain, M. Ferguson-Smith, 2013, The Journal of investigative dermatology.

Multiple self–healing squamous epitheliomata (ESS1) mapped to chromosome 9q22–q31 in families with common ancestry

N. Carter, M. Yuille, M. Leversha, 1993, Nature Genetics.

4th International Workshop on Human Gene Mapping. Report of the committee on the genetic constitution of chromosome 9.

S. Povey, D. Goudie, C. Porter, 1978, Cytogenetics and cell genetics.

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.

Life expectancy and death from cardiomyopathy amongst carriers of Duchenne and Becker muscular dystrophy in Scotland

D. Goudie, M. Porteous, M. Denvir, 2007, Heart.

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

D. Wieczorek, H. Kayserili, D. Goudie, 2013, Human Genetics.

Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis.

D. Goudie, M. Pippard, D. Mechan, 1998, Journal of clinical pathology.

Localization of the retinoid X receptor alpha gene (RXRA) to chromosome 9q34

S. Povey, K. Woodward, J. Fitzgibbon, 1993, Annals of human genetics.

Nine novel L1 CAM mutations in families with X‐linked hydrocephalus

J. Tolmie, S. Kenwrick, D. Goudie, 1997, Human mutation.

Human Nocturnal Frontal Lobe Epilepsy: Pharmocogenomic Profiles of Pathogenic Nicotinic Acetylcholine Receptor β-Subunit Mutations outside the Ion Channel Pore

I. Scheffer, D. Bertrand, S. Antonarakis, 2008, Molecular Pharmacology.

Aicardi syndrome in a 47 XXY male - a variable developmental phenotype?

D. Goudie, M. Kirkpatrick, J. Shetty, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

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

Unstable mutation in vitiligo.

R. B. Goudie, M. Ferguson-Smith, D. Goudie, 1980, Lancet.

Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity

R. Holt, J. Clayton-Smith, P. Calvas, 2022, Ophthalmic genetics.

Why do women not return family history forms when referred to breast cancer genetics services? A mixed‐method study

D. Goudie, G. Humphris, F. Sullivan, 2015, Health expectations : an international journal of public participation in health care and health policy.

Growing skull fracture at birth: a rare presentation of Menkes disease

D. Goudie, G. Main, P. Fowlie, 2018, Archives of Disease in Childhood.

Guidelines for regional genetic centres on the implementation of genetic services for the breast, ovarian and colorectal cancer families in Scotland

H. Campbell, A. Thompson, R. Black, 2000 .

Report of the committee on the genetic constitution of chromosome 9.

S. Povey, D. Goudie, 1990, Cytogenetics and cell genetics.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants

N. Rahman, M. Thomas, R. Houlston, 2010 .

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

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder?

E. Lane, M. Ferguson-Smith, M. D'alessandro, 2007, The Journal of investigative dermatology.

Additional polymorphism at a CHR 9 reference locus (D9S12).

M. Yuille, M. Ferguson-Smith, D. Goudie, 1992, Human molecular genetics.

A dinucleotide repeat polymorphism at the D9S127 locus.

M. Yuille, M. Leversha, M. Ferguson-Smith, 1992, Nucleic acids research.

A dinucleotide repeat polymorphism at the D9S109 locus.

M. Leversha, M. Ferguson-Smith, D. Goudie, 1992, Nucleic acids research.

Microsatellite polymorphism at the D9S12 locus.

M. Yuille, M. Leversha, M. Ferguson-Smith, 1991, Nucleic acids research.

Mutations in the iodotyrosine deiodinase gene and hypothyroidism.

M. Polak, J. Moreno, W. Klootwijk, 2008, The New England journal of medicine.