Barbara McDonough

Author PubWeight™ 19.82^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Truncations of titin causing dilated cardiomyopathy.	N Engl J Med	2012	6.07
2	Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy.	Circulation	2002	3.20
3	Shared genetic causes of cardiac hypertrophy in children and adults.	N Engl J Med	2008	2.12
4	Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.	N Engl J Med	2007	1.24
5	Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy.	Circ Cardiovasc Genet	2012	1.02
6	Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.	Circ Res	2010	0.88
7	Novel locus for an inherited cardiomyopathy maps to chromosome 7.	Circulation	2006	0.88
8	5'RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy.	J Clin Invest	2014	0.88
9	Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy.	BMC Med Genet	2012	0.84
10	HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss.	Hum Mutat	2013	0.81
11	Genomewide linkage in a large Caucasian family maps a new locus for intracranial aneurysms to chromosome 13q.	Stroke	2008	0.81
12	The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy.	Am J Med Genet A	2005	0.81
13	Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia.	Am J Med Genet A	2004	0.75