Dana Fuchs-Telem

Author PubWeight™ 5.44^‹?›

Rank	Title	Journal	Year	PubWeight™‹?›
1	Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.	Am J Med Genet A	2013	1.04
2	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.	Am J Hum Genet	2012	0.96
3	A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.	Am J Hum Genet	2011	0.92
4	RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.	Am J Hum Genet	2009	0.92
5	A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia.	Am J Hum Genet	2011	0.89
6	Cole Disease Results from Mutations in ENPP1.	Am J Hum Genet	2013	0.80
7	Semidominant inheritance in epidermolytic ichthyosis.	J Invest Dermatol	2013	0.75
8	The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12.	Exp Dermatol	2013	0.75