Treena Cranston

Author PubWeight™ 19.87^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: a randomized controlled trial.	Am J Med Genet A	2004	1.72
2	Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.	J Mol Med (Berl)	2005	1.56
3	Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.	Nat Genet	2012	1.53
4	Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.	Hum Mol Genet	2012	1.51
5	Use of multivariate analysis to suggest a new molecular classification of colorectal cancer.	J Pathol	2013	1.09
6	Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.	Hum Mutat	2010	1.08
7	ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.	J Clin Endocrinol Metab	2014	0.97
8	Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy.	Eur J Pediatr	2004	0.93
9	A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.	J Clin Endocrinol Metab	2010	0.90
10	Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.	J Clin Endocrinol Metab	2014	0.90
11	A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.	J Clin Endocrinol Metab	2009	0.89
12	Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.	Hum Mol Genet	2010	0.88
13	CDC73 intragenic deletion in familial primary hyperparathyroidism associated with parathyroid carcinoma.	J Clin Endocrinol Metab	2014	0.84
14	Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.	Arch Ophthalmol	2012	0.83
15	A comparison of methods for EGFR mutation testing in non-small cell lung cancer.	Diagn Mol Pathol	2013	0.83
16	Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).	J Clin Endocrinol Metab	2014	0.81
17	Confusing genes: a patient with MEN2A and Cushing's disease.	Clin Endocrinol (Oxf)	2013	0.80
18	A novel succinate dehydrogenase type B mutation in an Iranian family. Its genetic and clinical evaluation.	Hormones (Athens)	2014	0.75