John L Tolmie

Author PubWeight™ 34.17^‹?›

Rank	Title	Journal	Year	PubWeight™‹?›
1	Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.	N Engl J Med	2008	10.88
2	A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.	Nat Genet	2009	8.30
3	Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.	Nat Genet	2006	5.26
4	Clinical and molecular phenotype of Aicardi-Goutieres syndrome.	Am J Hum Genet	2007	2.81
5	Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.	Am J Hum Genet	2007	2.74
6	Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.	Nat Genet	2012	1.82
7	The movement disorders of Coffin-Lowry syndrome.	Brain Dev	2005	0.85
8	Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism.	Brain Dev	2005	0.80
9	B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.	J Clin Invest	2015	0.79
10	Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay.	Clin Chem	2005	0.75