Vazken M Der Kaloustian

Author PubWeight™ 8.86^‹?›

Rank	Title	Journal	Year	PubWeight™‹?›
1	Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.	Am J Hum Genet	2010	1.65
2	Differential impact of the FMR1 gene on visual processing in fragile X syndrome.	Brain	2004	1.13
3	Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.	Am J Hum Genet	2010	1.06
4	Additional EFNB1 mutations in craniofrontonasal syndrome.	Am J Med Genet A	2008	0.89
5	A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family.	Ann Neurol	2004	0.88
6	Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature.	Am J Med Genet A	2008	0.85
7	Congenital microcephaly, juvenile retinal dystrophy and normal mentation in a mildly dysmorphic child.	Can J Ophthalmol	2005	0.81
8	Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.	Am J Med Genet A	2008	0.79
9	An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome.	Am J Med Genet A	2008	0.79
10	Unusual dicentric chromosome 22 associated with a 22q13 deletion.	Am J Med Genet A	2006	0.75
11	Unilateral radio-ulnar synostosis, generalized hypotonia, and developmental delay with a characteristic facial appearance: a further case report.	Am J Med Genet A	2004	0.75
12	Connexin mutation testing of children with nonsyndromic, autosomal recessive sensorineural hearing loss.	J Otolaryngol	2004	0.75