Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome.

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. Brain (2014) 3.51

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet (2013) 2.42

A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39

Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63

Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet (2004) 6.15

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet (2013) 4.71

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69

Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology (2009) 3.61

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet (2007) 3.43

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet (2008) 2.98

Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet (2002) 2.96

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science (2005) 2.92

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain (2012) 2.87

Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81

ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms. Nat Genet (2007) 2.77

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet (2012) 2.75

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet (2013) 2.42

Peroxisome proliferator-activated receptor alpha protects against alcohol-induced liver damage. Hepatology (2004) 2.40

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol (2012) 2.33

Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease. Ann Neurol (2010) 2.29

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet (2003) 2.23

Translation matters: protein synthesis defects in inherited disease. Nat Rev Genet (2007) 2.19

Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain (2010) 2.19

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol (2005) 2.16

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy. Brain (2014) 2.14

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain (2013) 2.09

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene. Neurogenetics (2014) 2.08

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. Hum Mutat (2010) 1.83

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet (2012) 1.82

Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air. Hum Mol Genet (2005) 1.76

Community engagement and informed consent in the International HapMap project. Community Genet (2007) 1.73

Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23. Am J Med Genet A (2006) 1.70

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. Am J Hum Genet (2010) 1.69

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. J Hum Genet (2012) 1.64

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science (2010) 1.63

Recognizable phenotypes associated with intracranial calcification. Dev Med Child Neurol (2012) 1.63

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. Lancet Neurol (2013) 1.58

Histopathologic correlates of radial stripes on MR images in lysosomal storage disorders. AJNR Am J Neuroradiol (2005) 1.53

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies. J Hum Genet (2010) 1.49

Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation. Brain (2002) 1.47

Complete mutation analysis panel of the 39 human HOX genes. Teratology (2002) 1.47

Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet (2009) 1.47

LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density. J Hum Genet (2004) 1.47

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet (2013) 1.46

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. Am J Hum Genet (2013) 1.46

Phenotypic characterization of hypomyelination and congenital cataract. Ann Neurol (2007) 1.46

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr (2006) 1.45

Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy, and the subsequent distribution and excretion of imiglucerase in human breast milk. Clin Ther (2010) 1.43

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A (2011) 1.43

DHPLC is superior to SSCP in screening p53 mutations in esophageal cancer tissues. Int J Cancer (2005) 1.40

Discordance between the morphological and physiological information of 64-slice MSCT coronary angiography and myocardial perfusion imaging in patients with intermediate to high probability of coronary artery disease. Circ J (2011) 1.39

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands. Eur J Med Genet (2007) 1.39

Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia (2014) 1.38

Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23. Genomics (2003) 1.38

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mutat (2003) 1.38

KDM6A point mutations cause Kabuki syndrome. Hum Mutat (2012) 1.35

Recent progress in genetics of Marfan syndrome and Marfan-associated disorders. J Hum Genet (2006) 1.35

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. Am J Hum Genet (2010) 1.35

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia (2013) 1.35

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. Ann Neurol (2012) 1.34

Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. Hum Mutat (2006) 1.34

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. Neurogenetics (2013) 1.32

BAC array CGH reveals genomic aberrations in idiopathic mental retardation. Am J Med Genet A (2006) 1.30

A genomewide linkage analysis of Kawasaki disease: evidence for linkage to chromosome 12. J Hum Genet (2006) 1.30

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Am J Hum Genet (2013) 1.27

Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion. Am J Hum Genet (2004) 1.27

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med (2005) 1.25

Defective glial maturation in vanishing white matter disease. J Neuropathol Exp Neurol (2011) 1.25

Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. Am J Hum Genet (2011) 1.24

Leukoencephalopathy with vanishing white matter: a review. J Neuropathol Exp Neurol (2010) 1.24

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet (2011) 1.24

Glia-specific activation of all pathways of the unfolded protein response in vanishing white matter disease. J Neuropathol Exp Neurol (2006) 1.21

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet (2013) 1.20

Common variants in CASP3 confer susceptibility to Kawasaki disease. Hum Mol Genet (2010) 1.20

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. Epilepsia (2010) 1.19

The novel imprinted carboxypeptidase A4 gene ( CPA4) in the 7q32 imprinting domain. Hum Genet (2003) 1.19

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology (2013) 1.19

MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A (2013) 1.19

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. Hum Mutat (2012) 1.19

Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet (2004) 1.18

Three novel DNMT3B mutations in Japanese patients with ICF syndrome. Am J Med Genet (2002) 1.18

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A (2015) 1.17

De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. Am J Hum Genet (2011) 1.17

The latest on leukodystrophies. Curr Opin Neurol (2004) 1.16

Essential role of the IRF8-KLF4 transcription factor cascade in murine monocyte differentiation. Blood (2013) 1.16

Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. J Hum Genet (2012) 1.16

CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. BMC Genet (2002) 1.14

Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment. Am J Med Genet A (2006) 1.14