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Number of items: 10.


Blok, Lot Snijders, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H, Nowak, Catherine B, Douglas, Jessica, Swoboda, Kathryn J
et al (show 368 more authors) (2019) CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018). NATURE COMMUNICATIONS, 10 (1). 883-.


Whitworth, James, Smith, Philip S, Martin, Jose-Ezequiel, West, Hannah, Luchetti, Andrea, Rodger, Faye, Clark, Graeme, Carss, Keren, Stephens, Jonathan, Stirrups, Kathleen
et al (show 33 more authors) (2018) Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. AMERICAN JOURNAL OF HUMAN GENETICS, 103 (1). pp. 3-18.


Pathak, Sagar J, Mueller, James L, Okamoto, Kevin, Das, Barun, Hertecant, Jozef, Greenhalgh, Lynn ORCID: 0000-0002-3141-7090, Cole, Trevor, Pinsk, Vered, Yerushalmi, Baruch, Gurkan, Odul E
et al (show 11 more authors) (2019) EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome. HUMAN MUTATION, 40 (2). pp. 142-161.


Martin, Antony ORCID: 0000-0003-4383-6038, Downing, Jennifer ORCID: 0000-0001-7691-1167, Collins, Brendan ORCID: 0000-0002-3023-8189, Godman, Brian, Alfirevic, Ana ORCID: 0000-0002-2801-9817, Greenhalgh, Lynn and Pirmohamed, Munir ORCID: 0000-0002-7534-7266
(2020) Examining the uptake of predictive BRCA testing in the UK; findings and implications. European Journal of Human Genetics, 2020 (4). pp. 699-708.


Rhodes, Christopher J, Batai, Ken, Bleda, Marta, Haimel, Matthias, Southgate, Laura, Germain, Marine, Pauciulo, Michael W, Hadinnapola, Charaka, Aman, Jurjan, Girerd, Barbara
et al (show 499 more authors) (2019) Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis. LANCET RESPIRATORY MEDICINE, 7 (3). pp. 227-238.


Page, Elizabeth C, Bancroft, Elizabeth K, Brook, Mark N, Assel, Melissa, Al Battat, Mona Hassan, Thomas, Sarah, Taylor, Natalie, Chamberlain, Anthony, Pope, Jennifer, Ni Raghallaigh, Holly
et al (show 126 more authors) (2019) Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in <i>BRCA2</i> Mutation Carriers. EUROPEAN UROLOGY, 76 (6). pp. 831-842.


Mikropoulos, Christos, Selkirk, Christina G Hutten, Saya, Sibel, Bancroft, Elizabeth, Vertosick, Emily, Dadaev, Tokhir, Brendler, Charles, Page, Elizabeth, Dias, Alexander, Evans, D Gareth
et al (show 110 more authors) (2018) Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition. BRITISH JOURNAL OF CANCER, 118 (2). pp. 266-276.


Bancroft, Elizabeth K, Saya, Sibel, Page, Elizabeth C, Myhill, Kathryn, Thomas, Sarah, Pope, Jennifer, Chamberlain, Anthony, Hart, Rachel, Glover, Wayne, Cook, Jackie
et al (show 327 more authors) (2019) Psychosocial impact of undergoing prostate cancer screening for men with <i>BRCA1 or BRCA2</i> mutations. BJU INTERNATIONAL, 123 (2). pp. 284-292.


Andrews, Katrina A, Ascher, David B, Pires, Douglas Eduardo Valente, Barnes, Daniel R, Vialard, Lindsey, Casey, Ruth T, Bradshaw, Nicola, Adlard, Julian, Aylwin, Simon, Brennan, Paul
et al (show 27 more authors) (2018) Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i>. JOURNAL OF MEDICAL GENETICS, 55 (6). pp. 384-394.


Bancroft, Elizabeth K, Page, Elizabeth C, Brook, Mark N, Thomas, Sarah, Taylor, Natalie, Pope, Jennifer, McHugh, Jana, Jones, Ann-Britt, Karlsson, Questa, Merson, Susan
et al (show 77 more authors) (2021) A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study. LANCET ONCOLOGY, 22 (11). pp. 1618-1631.

This list was generated on Sun Apr 21 18:15:01 2024 BST.