Published in Hum Mutat on July 25, 2017
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KIF1A mutation in a patient with progressive neurodegeneration. J Hum Genet (2014) 1.06
The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome. J Hum Genet (2014) 1.05
Copy number variants in patients with short stature. Eur J Hum Genet (2013) 1.01
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Humanized Foxp2 accelerates learning by enhancing transitions from declarative to procedural performance. Proc Natl Acad Sci U S A (2014) 0.98
Defining the biological bases of individual differences in musicality. Philos Trans R Soc Lond B Biol Sci (2015) 0.97
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A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. J Hum Genet (2014) 0.94
A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia. Am J Med Genet A (2016) 0.92
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
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. Am J Med Genet A (2016) 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
Novel genetic loci underlying human intracranial volume identified through genome-wide association. Nat Neurosci (2016) 0.87
A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations. Sci Rep (2015) 0.87
De novo GABRA1 mutations in Ohtahara and West syndromes. Epilepsia (2016) 0.86
Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome. Am J Med Genet A (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
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
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA. Eur J Med Genet (2014) 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 RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases. Invest Ophthalmol Vis Sci (2014) 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
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy. J Hum Genet (2014) 0.81
WDR45 mutations in three male patients with West syndrome. J Hum Genet (2016) 0.81
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia. J Hum Genet (2016) 0.81
Early manifestations of BPAN in a pediatric patient. Am J Med Genet A (2014) 0.81
A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment. Eur J Hum Genet (2015) 0.81
A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract. J Hum Genet (2015) 0.81
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. J Hum Genet (2014) 0.81
ALDH18A1-related cutis laxa syndrome with cyclic vomiting. Brain Dev (2016) 0.81
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity. J Med Genet (2016) 0.81
Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome. J Neurol Neurosurg Psychiatry (2015) 0.81
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations. J Hum Genet (2017) 0.81
Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia. J Hum Genet (2016) 0.81
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. J Med Genet (2015) 0.80
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. BMC Med Genet (2017) 0.80
SPTAN1 encephalopathy: distinct phenotypes and genotypes. J Hum Genet (2015) 0.80
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease. Brain Dev (2014) 0.80
Ultrasonic vocalizations of adult male Foxp2-mutant mice: behavioral contexts of arousal and emotion. Genes Brain Behav (2016) 0.80
De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux. J Hum Genet (2016) 0.80
Late-onset epileptic spasms in a female patient with a CASK mutation. Brain Dev (2015) 0.79
Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss. J Hum Genet (2014) 0.79
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genet Med (2016) 0.79
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. Am J Med Genet A (2015) 0.79
Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome. Hum Mutat (2015) 0.79
Efficacy of long term weekly ACTH therapy for intractable epilepsy. Brain Dev (2014) 0.79
Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1. Am J Med Genet A (2015) 0.78
TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis. Sci Rep (2015) 0.78
De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures. J Hum Genet (2016) 0.78