Christoph Hertzberg

Author PubWeight™ 10.92^‹?›

Rank	Title	Journal	Year	PubWeight™‹?›
1	Deep sequencing reveals 50 novel genes for recessive cognitive disorders.	Nature	2011	4.85
2	Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.	Arthritis Rheum	2010	2.50
3	Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.	Hum Genet	2010	1.31
4	Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.	Am J Med Genet A	2010	0.94
5	Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings.	Eur J Med Genet	2011	0.89
6	Congenital ichthyosis in severe type II Gaucher disease with a homozygous null mutation.	Neonatology	2011	0.79
7	Intact recovery from early 'acquired methylmalonic aciduria' secondary to maternal atrophic gastritis.	Acta Paediatr	2011	0.75