Publications by authors named "Alan Donaldson"

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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, Alan Donaldson

Breast Cancer Res· May 2025

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Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair.
Kitty Sherwood, Joseph C Ward, Ignacio Soriano, Lynn Martin, Archie Campbell, Alan Donaldson

Nat Commun· June 2023

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Author Correction: Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair.
Kitty Sherwood, Joseph C Ward, Ignacio Soriano, Lynn Martin, Archie Campbell, Alan Donaldson

Nat Commun· June 2023

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Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Mary R Sy, Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Alan Donaldson

Am J Med Genet A· December 2022

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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Christopher Hakkaart, John F Pearson, Louise Marquart, Joe Dennis, George A R Wiggins, Alan Donaldson

Commun Biol· October 2022

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RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.
Jonathan Shintaku, Wolfgang M Pernice, Wafaa Eyaid, Jeevan B Gc, Zuben P Brown, Alan Donaldson

J Clin Invest· July 2022

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SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael Levy, Alan Donaldson

Genet Med· June 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, Alan Donaldson

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, Alan Donaldson

Lancet Oncol· November 2021

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Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study.
Lieske H Schrijver, Antonis C Antoniou, Håkan Olsson, Thea M Mooij, Marie-José Roos-Blom, Alan Donaldson

Am J Obstet Gynecol· July 2021

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Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Kevin E Glinton, Anna C E Hurst, Kevin M Bowling, Ingrid Cristian, Devon Haynes, Alan Donaldson

Am J Med Genet A· May 2021

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Prostate Cancer Risk by BRCA2 Genomic Regions.
Tommy Nyberg, Debra Frost, Daniel Barrowdale, D Gareth Evans, Elizabeth Bancroft, Alan Donaldson

Eur Urol· October 2020

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Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic mutation carriers: a case-controlled study (SIGNIFY).
Elizabeth K Bancroft, Sibel Saya, Emma Brown, Sarah Thomas, Natalie Taylor, Alan Donaldson

J Med Genet· April 2020

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Association of Genomic Domains in and with Prostate Cancer Risk and Aggressiveness.
Vivek L Patel, Evan L Busch, Tara M Friebel, Angel Cronin, Goska Leslie, Alan Donaldson

Cancer Res· February 2020

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Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study.
Tommy Nyberg, Debra Frost, Daniel Barrowdale, D Gareth Evans, Elizabeth Bancroft, Alan Donaldson

Eur Urol· January 2020

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Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers.
Elizabeth C Page, Elizabeth K Bancroft, Mark N Brook, Melissa Assel, Mona Hassan Al Battat, Alan Donaldson

Eur Urol· December 2019

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Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.
Frank Qian, Shengfeng Wang, Jonathan Mitchell, Lesley McGuffog, Daniel Barrowdale, Alan Donaldson

J Natl Cancer Inst· April 2019

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Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study.
Fabio Girardi, Daniel R Barnes, Daniel Barrowdale, Debra Frost, Angela F Brady, Alan Donaldson

Genet Med· December 2018

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Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes , and .
Katrina A Andrews, David B Ascher, Douglas Eduardo Valente Pires, Daniel R Barnes, Lindsey Vialard, Alan Donaldson

J Med Genet· June 2018

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Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.
Christos Mikropoulos, Christina G Hutten Selkirk, Sibel Saya, Elizabeth Bancroft, Emily Vertosick, Alan Donaldson

Br J Cancer· March 2018

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Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.
Christos Mikropoulos, Christina G Hutten Selkirk, Sibel Saya, Elizabeth Bancroft, Emily Vertosick, Alan Donaldson

Br J Cancer· January 2018

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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Fadi F Hamdan, Candace T Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alan Donaldson

Am J Hum Genet· November 2017

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Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Alan Donaldson

Eur J Hum Genet· June 2017

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Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
Joseph D Symonds, Shelagh Joss, Kay A Metcalfe, Suresh Somarathi, Jamie Cruden, Alan Donaldson

Epilepsia· April 2017

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Clinical and genetic aspects of KBG syndrome.
Karen Low, Tazeen Ashraf, Natalie Canham, Jill Clayton-Smith, Charu Deshpande, Alan Donaldson

Am J Med Genet A· November 2016

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