Publications
2018
Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study
Fewings, E., Larionov, A., Redman, J., Goldgraben, M. A., Scarth, J., Richardson, S., . . . Tischkowitz, M. (2018). Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study. LANCET GASTROENTEROLOGY & HEPATOLOGY, 3(7), 489-498. doi:10.1016/S2468-1253(18)30079-7
2016
An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter
Giri, D., Hart, R., Jones, C., Ellis, I., & Ramakrishnan, R. (2016). An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter. Journal of Pediatric Endocrinology and Metabolism, 29(1), 93-96. doi:10.1515/jpem-2015-0174
2015
A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service
Benjamin, C., Houghton, C., Foo, C., Edgar, C., Mannion, G., Birch, J., . . . Weber, A. (2015). A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service. EUROPEAN JOURNAL OF HUMAN GENETICS, 23(8), 996-1003. doi:10.1038/ejhg.2015.33
Effective provision of a genetic screening program delivered to University students with limited resources.
Foxler, B. E., Ziff, O. J., Ellis, I., & Bodansky, D. M. S. (2015). Effective provision of a genetic screening program delivered to University students with limited resources.. American journal of medical genetics. Part A, 167A(4), 922-924. doi:10.1002/ajmg.a.36964
2011
Mutations in <i>MEGF10</i>, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
Logan, C. V., Lucke, B., Pottinger, C., Abdelhamed, Z. A., Parry, D. A., Szymanska, K., . . . Johnson, C. A. (2011). Mutations in <i>MEGF10</i>, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). NATURE GENETICS, 43(12), 1189-1192. doi:10.1038/ng.995
Twin-twin confusion syndrome: Blood chimerism in opposite sex dizygotic twins
Hawcutt, D., Hammond, B., Sibbring, J., Gokhale, D., Ellis, I., Bricker, L., & Subhedar, N. (2011). Twin-twin confusion syndrome: Blood chimerism in opposite sex dizygotic twins. JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 31(5), 446-448. doi:10.3109/01443615.2011.570813
2009
No association of <i>TGFB1</i> L10P genotypes and breast cancer risk in <i>BRCA1</i> and <i>BRCA2</i> mutation carriers: a multi-center cohort study
Rebbeck, T. R., Antoniou, A. C., Caldes Llopis, T., Nevanlinna, H., Aittomaki, K., Simard, J., . . . Easton, D. F. (2009). No association of <i>TGFB1</i> L10P genotypes and breast cancer risk in <i>BRCA1</i> and <i>BRCA2</i> mutation carriers: a multi-center cohort study. BREAST CANCER RESEARCH AND TREATMENT, 115(1), 185-192. doi:10.1007/s10549-008-0064-8
Cancers in BRCA1 and BRCA2 carriers and in women at high risk for breast cancer: MR imaging and mammographic features.
Gilbert, F. J., Warren, R. M., et, A., United, K. M. R. I. I. B. S. M. S., & Ellis, I. E. A. (2009). Cancers in BRCA1 and BRCA2 carriers and in women at high risk for breast cancer: MR imaging and mammographic features.. Radiology, 252, 358-368.
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Antoniou, A. C., Sinilnikova, O. M., McGuffog, L., Cuningham, K., for Research into Familial Breast Cancer Collaborators, F. C., Ellis, I., & al, E. (2009). Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.. Human Molecular Genetics, 4442-4456.
No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers
Spurdle, A. B., Deans, A. J., Duffy, D., Goldgar, D. E., Study Collaborators, E. M. B. R. A. C. E., Ellis., & al, E. (2009). No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Research Treatment, 115, 307-313.
No evidence that GATA3 rs570613 SNP modifies breast cancer risk
Johnatty, S. E., Couch, F. J., Fredericksen, Z., AOCS, G., Association Consortium, B. C., Ellis, I., & al, E. (2009). No evidence that GATA3 rs570613 SNP modifies breast cancer risk. Breast Cancer Research Treatment, 117, 371-379.
PORCN mutations in focal dermal hypoplasia: coping with lethality.
Bornholdt, D., Oeffner, F., König, A., Happle, R., Alanay, Y., Ascherman, J., . . . Grzeschik, K. H. (2009). PORCN mutations in focal dermal hypoplasia: coping with lethality.. Human Mutation, 30, 618-628.
2008
Cystic fibrosis transmembrane conductance regulator ion channel function testing in recurrent acute pancreatitis.
Segal, I., Yaakov, Y., Adler, S. N., Blau, H., Broide, E., Santo, M., . . . Wilschanski, M. (2008). Cystic fibrosis transmembrane conductance regulator ion channel function testing in recurrent acute pancreatitis.. Journal of clinical gastroenterology, 42(7), 810-814. doi:10.1097/mcg.0b013e318156617c
The use of the life course paradigm and life course charts to explore referral for family history of breast cancer.
Benjamin, C., Flynn, M., Hallett, C., Ellis, I., & Booth, K. (2008). The use of the life course paradigm and life course charts to explore referral for family history of breast cancer.. International journal of nursing studies, 45(1), 95-109. doi:10.1016/j.ijnurstu.2006.10.007
2005
Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation
McCann, E., Kaye, S. B., Newman, W., Norbury, G., Black, G. C. M., & Ellis, I. H. (2005). Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. American Journal of Medical Genetics Part A, 138A(3), 278-281. doi:10.1002/ajmg.a.30944