Published in Epilepsia on November 27, 2015
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet (2012) 2.75
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. J Hum Genet (2012) 1.64
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. Ann Neurol (2015) 1.10
The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome. J Hum Genet (2014) 1.05
Human genetic variation database, a reference database of genetic variations in the Japanese population. J Hum Genet (2016) 1.00
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. J Hum Genet (2014) 0.94
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ. J Hum Genet (2015) 0.92
Novel FIG4 mutations in Yunis-Varon syndrome. J Hum Genet (2013) 0.91
Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy. Neuromuscul Disord (2014) 0.91
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. Sci Rep (2015) 0.91
Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach. J Hum Genet (2015) 0.89
Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome. Sci Rep (2016) 0.87
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nat Genet (2016) 0.87
De novo GABRA1 mutations in Ohtahara and West syndromes. Epilepsia (2016) 0.86
Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia. J Hum Genet (2017) 0.85
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation. J Hum Genet (2014) 0.85
A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome. Am J Med Genet A (2013) 0.84
Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing. J Hum Genet (2014) 0.84
The molecular and phenotypic spectrum of IQSEC2-related epilepsy. Epilepsia (2016) 0.84
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. Eur J Hum Genet (2015) 0.83
Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder. J Hum Genet (2015) 0.83
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2. J Hum Genet (2016) 0.82
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. J Hum Genet (2017) 0.82
The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations. J Hum Genet (2016) 0.82
Novel compound heterozygous LIAS mutations cause glycine encephalopathy. J Hum Genet (2015) 0.82