Hilary Vallance

Author PubWeight™ 10.64^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.	Science	2010	1.63
2	Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut.	Mol Genet Metab	2010	0.96
3	Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.	Can J Public Health	2008	0.88
4	The Brugada ECG pattern in a neonate.	J Cardiovasc Electrophysiol	2005	0.85
5	Newborn screening by tandem mass spectrometry: ethical and social issues.	Can J Public Health	2007	0.85
6	Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.	Clin Biochem	2008	0.84
7	Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking.	Orphanet J Rare Dis	2014	0.83
8	Prediction of obstetrical risk using maternal serum markers and clinical risk factors.	Prenat Diagn	2013	0.81
9	Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis.	J Inherit Metab Dis	2013	0.81
10	Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria.	Mol Genet Metab	2013	0.80
11	Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene.	Mol Genet Metab	2011	0.80
12	A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy.	Gene	2012	0.75