Eddie M K Chung

Author PubWeight™ 27.50^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.	Nat Genet	2002	4.64
2	Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.	Proc Natl Acad Sci U S A	2002	2.21
3	DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.	Am J Hum Genet	2008	2.17
4	Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.	Am J Hum Genet	2009	2.07
5	CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.	Nat Genet	2012	1.99
6	Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.	Am J Hum Genet	2012	1.91
7	Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.	Am J Respir Crit Care Med	2006	1.80
8	Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.	Nat Genet	2012	1.78
9	Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.	Am J Hum Genet	2012	1.60
10	Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.	Hum Mutat	2013	1.31
11	Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.	Am J Hum Genet	2013	1.17
12	Primary ciliary dyskinesia (Siewert's/Kartagener's syndrome): respiratory symptoms and psycho-social impact.	BMC Pulm Med	2003	1.17
13	Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.	J Med Genet	2013	0.96
14	Competency domains in an undergraduate Objective Structured Clinical Examination: their impact on compensatory standard setting.	Med Educ	2008	0.96
15	Confirmation of two novel loci for infantile hypertrophic pyloric stenosis on chromosomes 3 and 5.	J Hum Genet	2013	0.93
16	Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.	Am J Hum Genet	2008	0.82
17	Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing.	Hum Genet	2009	0.77