Published in Genet Med on June 21, 2012
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res (2013) 0.96
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet (2015) 0.94
Palmitoylation of gephyrin controls receptor clustering and plasticity of GABAergic synapses. PLoS Biol (2014) 0.89
SPTAN1 encephalopathy: distinct phenotypes and genotypes. J Hum Genet (2015) 0.80
A network view on Parkinson's disease. Comput Struct Biotechnol J (2013) 0.78
Proteomic Profiling of Cranial (Superior) Cervical Ganglia Reveals Beta-Amyloid and Ubiquitin Proteasome System Perturbations in an Equine Multiple System Neuropathy. Mol Cell Proteomics (2015) 0.77
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene? Mol Cytogenet (2015) 0.75
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Hum Genet (2016) 0.75
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping. Eur J Hum Genet (2015) 0.75
Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1. Mol Genet Genomic Med (2017) 0.75
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet (1997) 5.39
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet (1995) 5.11
Synaptic vesicle fusion complex contains unc-18 homologue bound to syntaxin. Nature (1993) 4.93
Characterising and predicting haploinsufficiency in the human genome. PLoS Genet (2010) 4.85
Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron (2011) 4.66
Clan genomics and the complex architecture of human disease. Cell (2011) 4.53
Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Neuron (2005) 3.75
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet (2008) 2.98
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet (2002) 2.86
Munc18a controls SNARE assembly through its interaction with the syntaxin N-peptide. EMBO J (2008) 2.33
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. Neurology (2010) 2.10
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet (2004) 1.88
Activation-induced cytidine deaminase (AID) can target both DNA strands when the DNA is supercoiled. Proc Natl Acad Sci U S A (2004) 1.79
rop, a Drosophila homolog of yeast Sec1 and vertebrate n-Sec1/Munc-18 proteins, is a negative regulator of neurotransmitter release in vivo. Neuron (1994) 1.60
The functional organization and assembly of the axon initial segment. Curr Opin Neurobiol (2008) 1.57
Solving the autism puzzle a few pieces at a time. Neuron (2011) 1.48
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. Ann Neurol (2009) 1.41
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet (2007) 1.36
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
STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study. Epilepsia (2010) 1.30
Epileptic encephalopathies in early infancy with suppression-burst. J Clin Neurophysiol (2004) 1.25
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. Am J Hum Genet (2007) 1.22
alphaII-spectrin is essential for assembly of the nodes of Ranvier in myelinated axons. Curr Biol (2007) 1.20
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. Epilepsia (2010) 1.19
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. Hum Mol Genet (2011) 1.18
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. Epilepsia (2011) 1.18
Movement-related neuronal activity selectively coding either direction or muscle pattern in three motor areas of the monkey. J Neurophysiol (1990) 1.16
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet (2004) 1.13
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. Epilepsia (2011) 1.09
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). Am J Med Genet A (2011) 1.07
Intellectual disability without epilepsy associated with STXBP1 disruption. Eur J Hum Genet (2011) 1.06
Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome. Clin Genet (2011) 0.92
The early-infantile epileptic encephalopathy with suppression-burst: developmental aspects. Brain Dev (1987) 0.89
Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family. Clin Genet (2010) 0.88
Symptomatic children with hereditary hemorrhagic telangiectasia: a pediatric center experience. Arch Pediatr Adolesc Med (2006) 0.87
Clinical evaluation and diagnosis of severe epilepsy syndromes of early childhood. J Child Neurol (2009) 0.83
Paternal mosaicism of an STXBP1 mutation in OS. Clin Genet (2010) 0.83
Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene. Mov Disord (2010) 0.80
Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia. Clin Genet (2008) 0.79
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med (2013) 15.85
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med (2010) 13.57
Genome architecture, rearrangements and genomic disorders. Trends Genet (2002) 12.26
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res (2006) 10.45
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell (2007) 9.81
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
Mechanisms of change in gene copy number. Nat Rev Genet (2009) 9.01
Structural variation in the human genome and its role in disease. Annu Rev Med (2010) 7.85
Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet (2009) 7.64
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet (2005) 7.60
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet (2009) 6.39
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet (2004) 5.19
Guidelines for the evaluation and management of status epilepticus. Neurocrit Care (2012) 5.00
Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med (2012) 4.97
Implementing genomic medicine in the clinic: the future is here. Genet Med (2013) 4.89
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet (2005) 4.76
Infantile spasms: a U.S. consensus report. Epilepsia (2010) 4.62
Mechanisms for human genomic rearrangements. Pathogenetics (2008) 4.54
Whole-genome sequencing for optimized patient management. Sci Transl Med (2011) 4.51
Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet (2002) 4.51
Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet (2004) 4.47
Completing the map of human genetic variation. Nature (2007) 4.38
Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med (2012) 4.36
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet (2008) 4.10
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med (2014) 4.00
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature (2007) 3.91
Consensus statement on continuous EEG in critically ill adults and children, part I: indications. J Clin Neurophysiol (2015) 3.84
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet (2009) 3.81
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet (2006) 3.80
Human genome sequencing in health and disease. Annu Rev Med (2012) 3.76
Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron (2006) 3.65
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One (2007) 3.53
Microbial DNA typing by automated repetitive-sequence-based PCR. J Clin Microbiol (2005) 3.44
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet (2009) 3.42
Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med (2005) 3.39
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet (2009) 3.33
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet (2007) 3.26
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell (2012) 3.21
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A (2012) 3.12
Blood-based protein biomarkers for diagnosis of Alzheimer disease. Arch Neurol (2012) 3.03
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell (2011) 3.03
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. Nature (2005) 2.98
Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat (2010) 2.93
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet (2002) 2.91
A novel murine model of severe pulmonary arterial hypertension. Am J Respir Crit Care Med (2011) 2.89
Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group. Epilepsia (2008) 2.87
Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med (2012) 2.86
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet (2011) 2.85
Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron (2012) 2.84
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet (2004) 2.84
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet (2004) 2.82
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med (2006) 2.78
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain (2006) 2.77
Essential role for the p110delta phosphoinositide 3-kinase in the allergic response. Nature (2004) 2.73
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet (2008) 2.71
X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men. N Engl J Med (2015) 2.71
Mechanisms for recurrent and complex human genomic rearrangements. Curr Opin Genet Dev (2012) 2.67
Complex human chromosomal and genomic rearrangements. Trends Genet (2009) 2.66
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet (2002) 2.64
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet (2007) 2.59
Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet (2003) 2.59
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet (2008) 2.59
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nat Genet (2010) 2.57
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. Eur J Hum Genet (2010) 2.52