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Number of items: 6.


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.


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.


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.

This list was generated on Sat Feb 10 09:56:39 2024 GMT.