Publications by authors named "Angela Brady"

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Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: results from EMBRACE.
Nasim Mavaddat, Debra Frost, Emily Zhao, Daniel R Barnes, Munaza Ahmed, Angela F Brady

Breast Cancer Res· May 2025

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A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and Haploinsufficiency.
Alistair T Pagnamenta, Jing Yu, Tracey A Willis, Mona Hashim, Eleanor G Seaby, Angela F Brady

Hum Mutat· April 2025

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Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting.
Avani Varde, Terri McVeigh, Vicky Cuthill, Angela F Brady, Bianca DeSouza

Fam Cancer· March 2025

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CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.
Emmanuelle Szenker-Ravi, Tim Ott, Amirah Yusof, Maya Chopra, Muznah Khatoo, Angela F Brady

Am J Hum Genet· February 2025

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Inferring disease course from differential exon usage in the wide titinopathy spectrum.
Maria Francesca Di Feo, Ali Oghabian, Ella Nippala, Mathias Gautel, Heinz Jungbluth, Angela F Brady

Ann Clin Transl Neurol· October 2024

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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Sadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, Michael A Levy, Jennifer Kerkhof, Angela F Brady

HGG Adv· October 2024

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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Sadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, Michael A Levy, Jennifer Kerkhof, Angela F Brady

HGG Adv· July 2024

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Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
Anthony M Vandersteen, Ruwan A Weerakkody, David A Parry, Christina Kanonidou, Daniel J Toddie-Moore, Angela F Brady

J Med Genet· February 2024

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From diagnosis of colorectal cancer to diagnosis of Lynch syndrome: The RM Partners quality improvement project.
Laura Monje-Garcia, Timothy Bill, Lindsay Farthing, Nate Hill, Emma Kipps, Angela F Brady

Colorectal Dis· September 2023

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Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Alan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb, Wai-Man Chan, Elke de Boer, Angela F Brady

Nat Genet· July 2023

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The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in and .
Sue Philpott, Maria Raikou, Ranjit Manchanda, Michelle Lockley, Naveena Singh, Angela F Brady

J Med Genet· May 2023

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Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review.
Saraswathy Sabanathan, Deepti Gulhane, Kshitij Mankad, James Davison, Min Tsui Ong, Angela F Brady

Neuromuscul Disord· January 2023

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Oral characteristics in adult individuals with periodontal Ehlers-Danlos syndrome.
Ulrike Lepperdinger, Chloe Angwin, Di Milnes, Glenda Sobey, Neeti Ghali, Angela F Brady

J Clin Periodontol· December 2022

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Randomised trial of population-based BRCA testing in Ashkenazi Jews: long-term secondary lifestyle behavioural outcomes.
Matthew Burnell, Faiza Gaba, Monika Sobocan, Rakshit Desai, Saskia Sanderson, Angela F Brady

BJOG· November 2022

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Expanding the phenotype of TAB2 variants and literature review.
Emily Woods, Imogen Marson, Emanuele Coci, Michael Spiller, Ajith Kumar, Angela Brady

Am J Med Genet A· November 2022

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Results from London Regional Clinical Genetics services over a 5-year period on germline testing in women diagnosed with breast cancer at <30 years.
Alice Garrett, Sabrina Talukdar, Louise Izatt, Angela F Brady, Sinead Whyte

J Med Genet· June 2022

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Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.
Eamonn R Maher, Julian Adlard, Julian Barwell, Angela F Brady, Paul Brennan

Br J Cancer· May 2022

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SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.
Sophie T Williams, Prodromos Chatzikyriakou, Paul V Carroll, Barbara M McGowan, Anand Velusamy, Angela F Brady

Clin Endocrinol (Oxf)· April 2022

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Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
Daniel R Barnes, Valentina Silvestri, Goska Leslie, Lesley McGuffog, Joe Dennis, Angela F Brady

J Natl Cancer Inst· January 2022

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A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.
Elizabeth K Bancroft, Elizabeth C Page, Mark N Brook, Sarah Thomas, Natalie Taylor, Angela F Brady

Lancet Oncol· November 2021

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PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Camille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, Ehsan Ghayoor Karimiani, Salman Kirmani, Angela F Brady

Genet Med· October 2021

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Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Víctor Faundes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T Bjornsson, Angela F Brady

Genet Med· July 2021

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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Alison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, Iris M de Lange, Jasper J van der Smagt, Angela F Brady, Lauren Brady

Genet Med· May 2021

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Mental health support through primary care during and after covid-19.
Faraz Mughal, Muhammad Z Hossain, Angela Brady, Judy Samuel, Carolyn A Chew-Graham

BMJ· May 2021

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Prospective clinical investigations of children with periodontal Ehlers-Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature.
Ines Kapferer-Seebacher, Elizabeth Oakley-Hannibal, Ulrike Lepperdinger, Diana Johnson, Neeti Ghali, Angela F Brady

Genet Med· February 2021

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