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Clinical activity of abiraterone acetate in patients with metastatic castration-resistant prostate cancer progressing after enzalutamide

Annals of oncology, 2013-07, Vol.24 (7), p.1802-1807

2013

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Maturity-onset diabetes of the young (MODY): how many cases are we missing

Diabetologia, 2010-12, Vol.53 (12), p.2504-2508

2010

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Safety and dose modification for patients receiving niraparib

Annals of oncology, 2018-08, Vol.29 (8), p.1784-1792

2018

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Large-scale discovery of novel genetic causes of developmental disorders

Nature (London), 2015-03, Vol.519 (7542), p.223-228

2015

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A randomized phase II study of weekly paclitaxel with or without pelareorep in patients with metastatic breast cancer: final analysis of Canadian Cancer Trials Group IND.213

Breast cancer research and treatment, 2018, Vol.167 (2), p.485-493

2018

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Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young

Diabetologia, 2008-04, Vol.51 (4), p.546-553

2008

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Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

Diabetologia, 2013-09, Vol.56 (9), p.1958-1963

2013

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Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons From a 5-Year Pediatric Swedish National Cohort Study

Diabetes care, 2020-01, Vol.43 (1), p.82-89

2020

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The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes

Diabetologia, 2012-05, Vol.55 (5), p.1265-1272

2012

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The laminopathies: a clinical review

Clinical genetics, 2006-10, Vol.70 (4), p.261-274

2006

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A phase II study of sunitinib in patients with recurrent epithelial ovarian and primary peritoneal carcinoma: an NCIC Clinical Trials Group Study

Annals of oncology, 2011-02, Vol.22 (2), p.335-340

2011

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A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients

Diabetic medicine, 2009-04, Vol.26 (4), p.437-441

2009

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Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype–phenotype correlation in an international cohort of patients

Diabetologia, 2013-04, Vol.56 (4), p.758-762

2013

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A prospective clinical utility and pharmacoeconomic study of the impact of the 21-gene Recurrence Score® assay in oestrogen receptor positive node negative breast cancer

European journal of cancer (1990), 2013-07, Vol.49 (11), p.2469-2475

2013

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tRNA methyltransferase homologue gene TRMT10A mutation in young adult‐onset diabetes with intellectual disability, microcephaly and epilepsy

Diabetic medicine, 2016-09, Vol.33 (9), p.e21-e25

2016

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Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A-MODY cohort

Diabetic medicine, 2016-07, Vol.33 (7), p.976-984

2016

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Heterozygous ABCC8 mutations are a cause of MODY

Diabetologia, 2012, Vol.55 (1), p.123-127

2012

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A phase II study of sorafenib in patients with chemo-naive castration-resistant prostate cancer

Annals of oncology, 2008-04, Vol.19 (4), p.746-751

2008

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Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations

European journal of endocrinology, 2010-05, Vol.162 (5), p.987-992

2010

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A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

Pediatric diabetes, 2017-06, Vol.18 (4), p.320-323

2017

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Analysis of cell‐free fetal DNA for non‐invasive prenatal diagnosis in a family with neonatal diabetes

Diabetic medicine, 2017-04, Vol.34 (4), p.582-585

2017

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Mutations in hepatocyte nuclear factor-1β and their related phenotypes

Journal of medical genetics, 2006-01, Vol.43 (1), p.84-90

2006

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Phase II study of temsirolimus (CCI-779) in women with recurrent, unresectable, locally advanced or metastatic carcinoma of the cervix. A trial of the NCIC Clinical Trials Group (NCIC CTG IND 199)

Gynecologic oncology, 2013-08, Vol.130 (2), p.269-274

2013

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Expanding the Clinical Spectrum Associated With GLIS3 Mutations

The journal of clinical endocrinology and metabolism, 2015-10, Vol.100 (10), p.E1362-E1369

2015

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JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome

Clinical genetics, 2012-07, Vol.82 (1), p.33-40

2012

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Clinical activity of abiraterone acetate in patients with metastatic castration-resistant prostate cancer progressing after enzalutamide

Maturity-onset diabetes of the young (MODY): how many cases are we missing

Safety and dose modification for patients receiving niraparib

Large-scale discovery of novel genetic causes of developmental disorders

A randomized phase II study of weekly paclitaxel with or without pelareorep in patients with metastatic breast cancer: final analysis of Canadian Cancer Trials Group IND.213

Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons From a 5-Year Pediatric Swedish National Cohort Study

The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes

The laminopathies: a clinical review

A phase II study of sunitinib in patients with recurrent epithelial ovarian and primary peritoneal carcinoma: an NCIC Clinical Trials Group Study

A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients

Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype–phenotype correlation in an international cohort of patients

A prospective clinical utility and pharmacoeconomic study of the impact of the 21-gene Recurrence Score® assay in oestrogen receptor positive node negative breast cancer

tRNA methyltransferase homologue gene TRMT10A mutation in young adult‐onset diabetes with intellectual disability, microcephaly and epilepsy

Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A-MODY cohort

Heterozygous ABCC8 mutations are a cause of MODY

A phase II study of sorafenib in patients with chemo-naive castration-resistant prostate cancer

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

Analysis of cell‐free fetal DNA for non‐invasive prenatal diagnosis in a family with neonatal diabetes

Mutations in hepatocyte nuclear factor-1β and their related phenotypes

Phase II study of temsirolimus (CCI-779) in women with recurrent, unresectable, locally advanced or metastatic carcinoma of the cervix. A trial of the NCIC Clinical Trials Group (NCIC CTG IND 199)

Expanding the Clinical Spectrum Associated With GLIS3 Mutations

JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome

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