Esther Kinning

Author PubWeight™ 15.55^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.	Science	2008	4.04
2	A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.	Am J Med Genet A	2015	1.60
3	8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.	Eur J Hum Genet	2007	1.36
4	Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.	Am J Hum Genet	2012	1.10
5	Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.	Am J Med Genet A	2013	1.04
6	Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.	Hum Mol Genet	2003	0.99
7	An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5.	Invest Ophthalmol Vis Sci	2003	0.91
8	Germline FH mutations presenting with pheochromocytoma.	J Clin Endocrinol Metab	2014	0.89
9	De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.	Hum Mutat	2015	0.87
10	Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.	Neurogenetics	2010	0.85
11	Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.	Am J Med Genet C Semin Med Genet	2012	0.84
12	Novel features in auriculo-condylar syndrome.	Clin Dysmorphol	2011	0.83
13	A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations.	J Clin Endocrinol Metab	2015	0.78
14	A novel COL1A1 mutation causing a variant of osteogenesis imperfecta.	Clin Dysmorphol	2017	0.75