A. Brady

发表

Pelizaeus–Merzbacher–Like disease presentation of MCT8 mutated male subjects

B. Dan, R. Touraine, G. De Michele, 2009, Annals of neurology.

Large-scale discovery of novel genetic causes of developmental disorders

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

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Dorothy A. Thompson, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, American journal of human genetics.

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Jane E. Carpenter, Jaana M. Hartikainen, W. Chung, 2019, Nature Genetics.

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Morad Ansari, Alejandro Sifrim, Matthew E Hurles, 2015, Nature Genetics.

Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study☆

R. Eeles, D. Easton, A. Antoniou, 2020, European urology.

Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs)

C. Turnbull, H. Hanson, S. Talukdar, 2019, Journal of Medical Genetics.

Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation

E. Zackai, Soma Das, A. Toutain, 2004, Human mutation.

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.

S. O’Rahilly, P. Froguel, M. Dattani, 2009, Human molecular genetics.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

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

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

C. Woods, F. Alkuraya, T. Mizushima, 2018, Brain : a journal of neurology.

Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12

M. Patton, M. Savage, A. Brady, 1999, Journal of medical genetics.

Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

L. Kiemeney, L. Andrews, R. Eeles, 2019, European urology.

Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study

R. Eeles, D. Easton, A. Antoniou, 2018, Genetics in Medicine.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants

R. Eeles, D. Evans, A. Sohaib, 2020, Journal of Medical Genetics.

Prostate Cancer Risk by BRCA2 Genomic Regions

R. Eeles, D. Easton, A. Antoniou, 2020, European urology.

Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature

A. Brady, Diana S. Johnson, J. Zschocke, 2020, Genetics in Medicine.

Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service

P. Brennan, D. Halliday, R. Sandford, 2022, British Journal of Cancer.

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

D. Sillence, A. Munnich, J. Casanova, 2011, American journal of human genetics.

Townes‐Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region

E. Zackai, V. Shashi, F. Elmslie, 2007, Human mutation.

Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes

H. Brunner, H. Bokhoven, A. Brady, 2006, European Journal of Human Genetics.

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

N. Burrows, M. Whiteford, D. Baker, 2019, Genetics in Medicine.

Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.

P. Scambler, R. Hennekam, L. Holmes, 2000, American journal of human genetics.

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

Panagiotis, P. Donnelly, M. McCarthy, 2018 .

The 2017 international classification of the Ehlers–Danlos syndromes

J. Belmont, P. Byers, R. Grahame, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Disruption at the Ptchd1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability Nih Public Access

Chi-Chung Hui, Andre Franke, Geraldine Dawson, 2010 .

Mild case of Curry-Jones syndrome.

A. Brady, C. Hall, F. Goodman, 2006, Clinical dysmorphology.

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.

Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-14 weeks' gestation.

K. Nicolaides, P. Pandya, K. Nicolaides, 1998, Journal of medical genetics.

Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism

L. Brueton, A. Brady, A. Brady, 2000, Clinical genetics.

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

K. Burnand, S. Mansour, A. Child, 2002, Journal of medical genetics.

University of Southern Denmark Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

L. Kiemeney, L. Andrews, R. Eeles, 2018 .

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, J. Al-Aama, P. Tomançak, 2017, Nature Genetics.

Response to "Histology of colorectal adenocarcinoma with double somatic mismatch-repair mutations is indistinguishable from those caused by Lynch syndrome".

A. Brady, D. Georgiou, K. Monahan, 2019, Human pathology.

Randomised trial of population‐based BRCA testing in Ashkenazi Jews: long‐term secondary lifestyle behavioural outcomes

J. Wardle, I. Jacobs, U. Menon, 2022, BJOG : an international journal of obstetrics and gynaecology.

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.

UvA-DARE ( Digital Academic Repository ) Novel HOXA 13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

P. Scambler, R. Hennekam, L. Holmes, 2017 .

PEHO syndrome: the endpoint of different genetic epilepsies

Kaitlin M. Stouffer, C. Woods, M. Nahorski, 2018, Journal of Medical Genetics.

Expanding the phenotype of TAB2 variants and literature review

J. Rankin, T. Homfray, A. Brady, 2022, American journal of medical genetics. Part A.

Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years

S. Talukdar, A. Brady, L. Izatt, 2021, Journal of Medical Genetics.

Electron microscopy in the diagnosis of Ehlers–Danlos syndromes: correlation with clinical and genetic investigations

D. Baker, A. Brady, N. Ghali, 2020, The British journal of dermatology.

Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients

A. Brady, M. Ritelli, M. Colombi, 2019, Genes.

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

C. Fauth, C. Bönnemann, J. Pilch, 2017, Genetics in Medicine.

Novel mutation in PANK2 associated with retinal telangiectasis

A. Bird, M. Michaelides, A. Moore, 2010, British Journal of Ophthalmology.

The short-term effects of growth hormone therapy on height velocity and cardiac ventricular wall thickness in children with Noonan's syndrome.

D. Dunger, M. Savage, C. Kelnar, 1996, The Journal of clinical endocrinology and metabolism.

Mutations in DONSON disrupt replication fork stability and cause microcephalic 1 dwarfism . 2 3

Martin A. M. Reijns, Saleem, Abdulrahman, 2017 .

Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16A2/MCT8 Thyroid Hormone Transporter Function and Genotype–Phenotype Correlation

R. Touraine, T. Visser, C. Vaurs-Barrière, 2013, Human mutation.

The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2

Aarti Sharma, Naveena Singh, A. Mcguire, 2022, Journal of Medical Genetics.

Central osteosclerosis with trichothiodystrophy

A. Brady, C. Hall, M. Suri, 2004, Pediatric Radiology.

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

Neil L. Aaronson, L. Kiemeney, L. Andrews, 2018, British Journal of Cancer.

Further Delineation of the Critical Region for Noonan Syndrome on the Long Arm of Chromosome 12

E. Mariman, M. Patton, H. Kremer, 1997, European journal of human genetics : EJHG.

Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome

A. Brady, Diana S. Johnson, J. Zschocke, 2022, Journal of clinical periodontology.

The Ehlers–Danlos syndromes, rare types

N. Voermans, A. Brady, J. Zschocke, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Homozygosity for piebaldism with a proven KIT mutation resulting in depigmentation of the skin and hair, deafness, developmental delay and autism spectrum disorder.

E. Raglan, A. Brady, K. Rajput, 2013, Clinical dysmorphology.

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.

Stefania Tommasi, Laura Cortesi, Mads Thomassen, 2019, Cancer research.

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

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

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

R. Nussbaum, D. Steinemann, V. Pankratz, 2014, Breast Cancer Research.

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

G. Kokai, A. Grüters, M. Wlodarski, 2017, The Journal of clinical investigation.

CCDC88A mutations cause PEHO-like syndrome in humans and mouse

C. Woods, N. Asai, Masahide Takahashi, 2016, Brain : a journal of neurology.

Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group

C. Turnbull, I. Frayling, L. Side, 2018, Journal of Medical Genetics.

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.

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.

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

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

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2019, Nature Genetics.

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.

Mapping a gene for Noonan syndrome to the long arm of chromosome 12

E. Mariman, M. Patton, A. Brady, 1994, Nature Genetics.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Martin S. Taylor, A. Green, M. Bitner-Glindzicz, 2014, Journal of Medical Genetics.

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome

D. Baker, A. Brady, Diana S. Johnson, 2020, American journal of medical genetics. Part A.

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

F. Couch, O. Olopade, J. Benítez, 2021, Journal of the National Cancer Institute.

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

D. Horn, J. Clayton-Smith, Jenny C. Taylor, 2016, American journal of human genetics.

Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study

L. Kiemeney, R. Eeles, Z. Kote-Jarai, 2014, European urology.

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2021, Nature Communications.

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

John Broxholme, Elizabeth Sweeney, Angela F Brady, 2013, Nature Genetics.

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

C. Cytrynbaum, C. Marshall, A. Noor, 2015, Clinical genetics.

16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

Shuwen Huang, V. Maloney, J. Barber, 2012, European Journal of Human Genetics.

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

W. Chung, F. Couch, O. Olopade, 2021, Genetics in Medicine.

A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study

R. Eeles, Z. Kote-Jarai, F. Hamdy, 2021, The Lancet. Oncology.

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

W. Chung, R. Nussbaum, D. Steinemann, 2015, Breast Cancer Research.

Title Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA 1 and BRCA 2 mutation carriers

R. Nussbaum, D. Steinemann, V. Pankratz, 2015 .

phylogenetic approach identified mitochondrial haplogroup T 1 a 1 as inversely associated with breast cancer risk in BRCA 2 mutation carriers

W. Chung, D. Steinemann, V. Pankratz, 2015 .

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

S. Ellard, J. Baptista, H. Lango Allen, 2017, Prenatal diagnosis.

Griscelli syndrome type 1: a report of two cases and review of the literature.

L. Brueton, A. Brady, M. Suri, 2009, Clinical dysmorphology.

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

H. Brunner, J. Hurst, M. Digilio, 2021, Genetics in Medicine.

Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia

Ethan M. Goldberg, Golder N Wilson, D. MacArthur, 2021, Genetics in Medicine.

Phenotypic spectrum associated with de novo mutations in QRICH1 gene

A. Brady, J. Dean, M. Splitt, 2018, Clinical genetics.

Randomised trial of population‐based BRCA testing in Ashkenazi Jews: long‐term outcomes

I. Jacobs, U. Menon, M. Burnell, 2019, BJOG : an international journal of obstetrics and gynaecology.

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

D. Wieczorek, S. Mansour, A. Moore, 2013, European Journal of Human Genetics.

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

A. Munnich, K. Devriendt, R. Hennekam, 2011, Journal of Medical Genetics.

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

W. Chung, M. Beckmann, P. Fasching, 2019, npj Breast Cancer.

SDHC phaeochromocytoma and paraganglioma: A UK‐wide case series

Soo-Mi Park, C. Bowles, P. Carroll, 2021, Clinical endocrinology.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, P. Tomançak, N. Prescott, 2017, Nature Genetics.

PIGG variant pathogenicity assessment reveals characteristic features within 19 families

S. Antonarakis, S. Ellard, R. Truty, 2021, Genetics in Medicine.

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

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

Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

W. Chung, R. Nussbaum, D. Steinemann, 2014, Cancer Epidemiology, Biomarkers & Prevention.

Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

D. Baker, A. Brady, Diana S. Johnson, 2020, Genetics in Medicine.

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.

COLEC10 is mutated in 3MC patients and regulates early craniofacial development

P. Beales, D. Jenkins, J. Morton, 2017, PLoS genetics.

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

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

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

S. Duffy, P. Brennan, D. Halliday, 2019, British Journal of Cancer.

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis.

M. Kurian, A. Brady, E. Maher, 2010, Molecular genetics and metabolism.

Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysis: a new autosomal recessive syndrome?

R. Winter, A. Brady, C. Garrett, 2002, Clinical dysmorphology.

Gene-gene interactions in breast cancer susceptibility.

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

Arterial complications in classical Ehlers-Danlos syndrome: a case series

D. Baker, A. Brady, Diana S. Johnson, 2020, Journal of Medical Genetics.

Jewish cultural and religious factors and uptake of population‐based BRCA testing across denominations: a cohort study

J. Wardle, I. Jacobs, U. Menon, 2021, BJOG : an international journal of obstetrics and gynaecology.

Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

A. Brady, Diana S. Johnson, V. Mcconnell, 2020, Genetics in Medicine.

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

N. Burrows, M. Whiteford, D. Baker, 2019, Genetics in Medicine.

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Stephen C. J. Parker, James T. Elder, L. Vissers, 2023, Nature Genetics.

A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency

A. Pagnamenta, D. Baralle, Jenny C. Taylor, 2023, Human Mutation.

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Alexander Kanapin, J. Mulliken, J. Broxholme, 2013, Nature 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.

Attitude towards and factors affecting uptake of population‐based BRCA testing in the Ashkenazi Jewish population: a cohort study

I. Jacobs, U. Menon, M. Burnell, 2019, BJOG : an international journal of obstetrics and gynaecology.

Analysis of lymphoedema-distichiasis families forFOXC2 mutations reveals small insertions and deletions throughout the gene

K. Burnand, S. Mansour, D. Callen, 2001, Human Genetics.

Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome

M. Hurles, G. Stewart, L. Bicknell, 2018, Human mutation.

Elucidating the aetiology of Prader-Willi syndrome: deletion of the HBII-85 class of snoRNA is associated with hyperphagia, obesity and hypogonadism

S. O’Rahilly, P. Froguel, M. Dattani, 2009 .

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2019, Nature Communications.

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.

A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome.

S. Ellard, E. De Franco, A. Brady, 2019, Coronary artery disease.

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

D. Sillence, A. Munnich, J. Casanova, 2011, American journal of human genetics.

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

L. Kiemeney, L. Andrews, R. Eeles, 2018, British Journal of Cancer.

Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome)--evidence for possible autosomal recessive inheritance.

M. Patton, A. Brady, 1997, Clinical dysmorphology.

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

K. Burnand, S. Mansour, A. Child, 2002, Journal of medical genetics.