Published in Nat Genet on October 21, 2012
SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol (2013) 2.28
Common variants associated with general and MMR vaccine-related febrile seizures. Nat Genet (2014) 1.81
A roadmap for precision medicine in the epilepsies. Lancet Neurol (2015) 1.75
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet (2014) 1.71
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum Mol Genet (2014) 1.46
Genetics of the epilepsies: where are we and where are we going? Curr Opin Neurol (2013) 1.38
Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain (2013) 1.19
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. Ann Neurol (2014) 1.15
Slack, Slick and Sodium-Activated Potassium Channels. ISRN Neurosci (2013) 1.10
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. Am J Hum Genet (2014) 1.10
Past and present definitions of epileptogenesis and its biomarkers. Neurotherapeutics (2014) 1.09
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. Neurology (2015) 1.07
Definition and diagnostic criteria of sleep-related hypermotor epilepsy. Neurology (2016) 1.05
Cryo-electron microscopy structure of the Slo2.2 Na(+)-activated K(+) channel. Nature (2015) 1.04
Pathway-driven discovery of epilepsy genes. Nat Neurosci (2015) 1.00
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. BMC Med Genet (2014) 0.98
Advancing epilepsy genetics in the genomic era. Genome Med (2015) 0.97
More than a pore: ion channel signaling complexes. J Neurosci (2014) 0.94
Epileptic encephalopathies: new genes and new pathways. Neurotherapeutics (2014) 0.93
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. Pediatr Neurol (2013) 0.93
Mechanisms of epileptogenesis in pediatric epileptic syndromes: Rasmussen encephalitis, infantile spasms, and febrile infection-related epilepsy syndrome (FIRES). Neurotherapeutics (2014) 0.92
Human slack potassium channel mutations increase positive cooperativity between individual channels. Cell Rep (2014) 0.92
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. Nat Commun (2015) 0.91
Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes. PLoS One (2014) 0.90
Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models. Neurotherapeutics (2014) 0.90
Emerging role of the KCNT1 Slack channel in intellectual disability. Front Cell Neurosci (2014) 0.88
Application of next-generation sequencing technologies in Neurology. Ann Transl Med (2014) 0.88
Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective. Hum Genet (2013) 0.86
Quinidine in the treatment of KCNT1-positive epilepsies. Ann Neurol (2015) 0.85
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. J Med Genet (2016) 0.85
Genetic neurological channelopathies: molecular genetics and clinical phenotypes. J Neurol Neurosurg Psychiatry (2015) 0.85
WONOEP appraisal: new genetic approaches to study epilepsy. Epilepsia (2014) 0.85
Differential distribution of the sodium-activated potassium channels slick and slack in mouse brain. J Comp Neurol (2015) 0.85
Potassium Channels and Human Epileptic Phenotypes: An Updated Overview. Front Cell Neurosci (2016) 0.85
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities. PLoS One (2015) 0.84
Genetic forms of epilepsies and other paroxysmal disorders. Semin Neurol (2014) 0.84
Genome-wide mouse mutagenesis reveals CD45-mediated T cell function as critical in protective immunity to HSV-1. PLoS Pathog (2013) 0.84
Knockout of Slo2.2 enhances itch, abolishes KNa current, and increases action potential firing frequency in DRG neurons. Elife (2015) 0.84
Clinical Genetic Testing in Epilepsy. Epilepsy Curr (2015) 0.82
Molecular mechanisms of Slo2 K(+) channel closure. J Physiol (2016) 0.82
Genetic Relationship between Schizophrenia and Nicotine Dependence. Sci Rep (2016) 0.80
denovo-db: a compendium of human de novo variants. Nucleic Acids Res (2016) 0.79
Next-generation sequencing of colorectal cancers in chinese: identification of a recurrent frame-shift and gain-of-function Indel mutation in the TFDP1 gene. OMICS (2014) 0.79
Epilepsy-Related Slack Channel Mutants Lead to Channel Over-Activity by Two Different Mechanisms. Cell Rep (2015) 0.78
Slack sodium-activated potassium channel membrane expression requires p38 mitogen-activated protein kinase phosphorylation. Neuropharmacology (2015) 0.78
The sodium-activated potassium channel Slack is required for optimal cognitive flexibility in mice. Learn Mem (2015) 0.78
Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels. Front Cell Neurosci (2015) 0.78
Lessons learned from gene identification studies in Mendelian epilepsy disorders. Eur J Hum Genet (2015) 0.78
Use of label-free optical biosensors to detect modulation of potassium channels by G-protein coupled receptors. J Vis Exp (2014) 0.78
Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy. Hum Genet (2015) 0.78
Neuronal and Cardiovascular Potassium Channels as Therapeutic Drug Targets: Promise and Pitfalls. J Biomol Screen (2015) 0.77
SLO-2 potassium channel is an important regulator of neurotransmitter release in Caenorhabditis elegans. Nat Commun (2014) 0.77
Migrating partial seizures in infancy and 47XYY syndrome: Cause or coincidence? Epilepsy Behav Case Rep (2014) 0.77
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy. Neurosci Bull (2017) 0.76
Stimulation of Slack K(+) Channels Alters Mass at the Plasma Membrane by Triggering Dissociation of a Phosphatase-Regulatory Complex. Cell Rep (2016) 0.76
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay. Sci Rep (2016) 0.76
KCNT1 mutations in ADNFLE and MMPSI: a new driver in the etiology and pathophysiology of early-onset epileptic syndromes. Clin Genet (2013) 0.76
Electroencephalogram of age-dependent epileptic encephalopathies in infancy and early childhood. Epilepsy Res Treat (2013) 0.75
An ALS-Associated Mutant SOD1 Rapidly Suppresses KCNT1 (Slack) Na(+)-Activated K(+) Channels in Aplysia Neurons. J Neurosci (2017) 0.75
Understanding Genotypes and Phenotypes in Epileptic Encephalopathies. Mol Syndromol (2016) 0.75
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy. J Med Genet (2016) 0.75
Structural Titration of Slo2.2, a Na(+)-Dependent K(+) Channel. Cell (2017) 0.75
2014 Epilepsy Benchmarks Area I: Understanding the Causes of the Epilepsies and Epilepsy-Related Neurologic, Psychiatric, and Somatic Conditions. Epilepsy Curr (2016) 0.75
Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching. Sci Rep (2017) 0.75
A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures. Hum Genome Var (2014) 0.75
Characteristic Features of the Interictal EEG Background in 2 Patients With Malignant Migrating Partial Epilepsy in Infancy. J Clin Neurophysiol (2015) 0.75
Locus Heterogeneity in Epilepsy of Infancy with Migrating Focal Seizures. Epilepsy Curr (2016) 0.75
Genetics: mutations in potassium channel KCNT1-a novel driver of epilepsy pathogenesis. Nat Rev Neurol (2012) 0.75
Targeted Treatment in Childhood Epilepsy Syndromes. Curr Treat Options Neurol (2016) 0.75
Genetics of hereditary neurological disorders in children. Transl Pediatr (2014) 0.75
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients. Mol Diagn Ther (2017) 0.75
Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly. Cold Spring Harb Mol Case Stud (2017) 0.75
Genetic basis of pediatric epilepsy syndromes. Exp Ther Med (2017) 0.75
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nat Neurosci (2017) 0.75
The Phe932Ile mutation in KCNT1 channels associated with severe epilepsy, delayed myelination and leukoencephalopathy produces a loss-of-function channel phenotype. Neuroscience (2017) 0.75
The Sequence Alignment/Map format and SAMtools. Bioinformatics (2009) 232.39
Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (2009) 190.94
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
Optimized survival of hippocampal neurons in B27-supplemented Neurobasal, a new serum-free medium combination. J Neurosci Res (1993) 9.81
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol (2012) 4.12
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet (2005) 3.32
The sodium-activated potassium channel is encoded by a member of the Slo gene family. Neuron (2003) 2.97
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med (2010) 2.70
International Union of Pharmacology. LII. Nomenclature and molecular relationships of calcium-activated potassium channels. Pharmacol Rev (2005) 2.39
Whole-exome-sequencing-based discovery of human FADD deficiency. Am J Hum Genet (2010) 2.17
For K+ channels, Na+ is the new Ca2+. Trends Neurosci (2005) 2.07
Non-conducting functions of voltage-gated ion channels. Nat Rev Neurosci (2006) 2.02
Neuro-epileptic determinants of autism spectrum disorders in tuberous sclerosis complex. Brain (2002) 1.75
Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack. Nat Neurosci (2010) 1.67
Migrating partial seizures in infancy: a malignant disorder with developmental arrest. Epilepsia (1995) 1.60
Epilepsy genetics--past, present, and future. Curr Opin Genet Dev (2011) 1.46
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology (2003) 1.45
Formation of intermediate-conductance calcium-activated potassium channels by interaction of Slack and Slo subunits. Nat Neurosci (1998) 1.42
Opposite regulation of Slick and Slack K+ channels by neuromodulators. J Neurosci (2006) 1.41
The N-terminal domain of Slack determines the formation and trafficking of Slick/Slack heteromeric sodium-activated potassium channels. J Neurosci (2009) 1.38
De novo SCN1A mutations in migrating partial seizures of infancy. Neurology (2011) 1.23
Mutations in ARX Result in Several Defects Involving GABAergic Neurons. Front Cell Neurosci (2010) 1.21
Benign familial neonatal convulsions: always benign? Epilepsy Res (2006) 1.19
Amino-termini isoforms of the Slack K+ channel, regulated by alternative promoters, differentially modulate rhythmic firing and adaptation. J Physiol (2008) 1.18
Mutational scanning of potassium, sodium and chloride ion channels in malignant migrating partial seizures in infancy. Brain Dev (2005) 1.16
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Arch Neurol (2011) 1.12
Intellectual disability without epilepsy associated with STXBP1 disruption. Eur J Hum Genet (2011) 1.06
Migrating focal seizures in infancy: analysis of the electroclinical patterns in 17 patients. J Child Neurol (2008) 1.05
Migrating partial seizures in infancy: expanding the phenotype of a rare seizure syndrome. Epilepsia (2005) 1.03
Vagus nerve stimulation (VNS) is effective in treating catastrophic 1 epilepsy in very young children. Neurosurg Rev (2008) 0.97
Electric field-induced functional reductions in the K+ channels mainly resulted from supramembrane potential-mediated electroconformational changes. Biophys J (1998) 0.97
Use of optical biosensors to detect modulation of Slack potassium channels by G protein-coupled receptors. J Recept Signal Transduct Res (2009) 0.94
The sodium-activated potassium channel Slack is modulated by hypercapnia and acidosis. Neuroscience (2007) 0.94
Epileptic syndromes in infancy and childhood. Curr Opin Neurol (2008) 0.93
Levetiracetam in a neonate with malignant migrating partial seizures. Pediatr Neurol (2006) 0.92
Malignant migrating partial seizures in infancy. Pediatr Neurol (2004) 0.91
Migrating partial seizures in infancy: two new cases. J Child Neurol (2000) 0.90
Successful control with bromide of two patients with malignant migrating partial seizures in infancy. Brain Dev (2000) 0.89
A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy. Brain Dev (2011) 0.88
Treatment of malignant migrating partial epilepsy of infancy with rufinamide: report of five cases. Epileptic Disord (2011) 0.86
Malignant migrating partial seizures in infancy. Epilepsy Res (2001) 0.84
Malignant migrating partial seizures in a 4-month-old boy. Epileptic Disord (2011) 0.83
The efficacy of bromides, stiripentol and levetiracetam in two patients with malignant migrating partial seizures in infancy. Epileptic Disord (2011) 0.83
Saturation of neuroprotective effects of adenosine in cortical culture. Neuroreport (2002) 0.82
Focal seizures versus focal epilepsy in infancy: a challenging distinction. Epileptic Disord (1999) 0.81
[Effects of tetramethylpyrazine on large-conductance Ca²⁺-activated potassium channels in porcine coronary artery smooth muscle cells]. Sheng Li Xue Bao (2006) 0.80
Lamin a truncation in Hutchinson-Gilford progeria. Science (2003) 8.01
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science (2011) 6.19
TLR3 deficiency in patients with herpes simplex encephalitis. Science (2007) 5.86
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
Human CD14dim monocytes patrol and sense nucleic acids and viruses via TLR7 and TLR8 receptors. Immunity (2010) 5.43
Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire. Blood (2004) 5.10
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet (2007) 4.99
Pyogenic bacterial infections in humans with MyD88 deficiency. Science (2008) 4.92
Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science (2003) 4.80
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet (2007) 4.63
Herpes simplex virus encephalitis in human UNC-93B deficiency. Science (2006) 4.26
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med (2010) 3.98
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet (2003) 3.96
Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat Genet (2003) 3.95
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet (2012) 3.80
Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol (2009) 3.70
Stereotactic biopsy of diffuse pontine lesions in children. J Neurosurg (2007) 3.66
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen. Nat Immunol (2011) 3.66
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med (2011) 3.63
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. Semin Immunol (2006) 3.41
IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med (2011) 3.29
Numb and Numbl are required for maintenance of cadherin-based adhesion and polarity of neural progenitors. Nat Neurosci (2007) 3.13
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat (2004) 3.07
Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet (2002) 3.07
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol (2011) 3.05
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol (2007) 2.98
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet (2006) 2.97
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med (2011) 2.93
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet (2004) 2.90
Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity. J Exp Med (2007) 2.85
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med (2010) 2.70
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63
miR-122, a paradigm for the role of microRNAs in the liver. J Hepatol (2008) 2.61
The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88. Nat Immunol (2010) 2.55
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol (2010) 2.48
Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. Immunity (2010) 2.47
Angiocentric neuroepithelial tumor (ANET): a new epilepsy-related clinicopathological entity with distinctive MRI. Brain Pathol (2005) 2.46
Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis (2012) 2.46
B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans. J Exp Med (2010) 2.42
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain (2013) 2.40
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat Immunol (2012) 2.38
Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense. PLoS Genet (2009) 2.35
Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense. Immunol Rev (2008) 2.35
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore) (2010) 2.33
Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells. Nature (2012) 2.32
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med (2004) 2.32
Delineation of the motor disorder of Lesch-Nyhan disease. Brain (2006) 2.30
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. Medicine (Baltimore) (2010) 2.26
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet (2007) 2.22
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet (2004) 2.22
Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity? Ann N Y Acad Sci (2010) 2.20
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med (2003) 2.19
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med (2006) 2.18
Whole-exome-sequencing-based discovery of human FADD deficiency. Am J Hum Genet (2010) 2.17
Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to viruses. Immunity (2005) 2.16
Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity. Clin Infect Dis (2003) 2.14
Severe myoclonic epilepsy in infancy: a systematic review and a meta-analysis of individual patient data. Epilepsia (2007) 2.13
Abnormal cortical voice processing in autism. Nat Neurosci (2004) 2.11
Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. Am J Hum Genet (2009) 2.09
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest (2009) 2.08
Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency. Clin Microbiol Rev (2011) 2.08
For K+ channels, Na+ is the new Ca2+. Trends Neurosci (2005) 2.07
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. J Am Soc Nephrol (2007) 2.06
Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency. Science (2012) 2.06
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet (2013) 2.06
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation. Am J Psychiatry (2006) 2.05
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. J Allergy Clin Immunol (2008) 2.05
Slick (Slo2.1), a rapidly-gating sodium-activated potassium channel inhibited by ATP. J Neurosci (2003) 2.05
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet (2011) 2.04
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat (2007) 2.04
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet (2009) 2.03
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nat Genet (2007) 2.03
Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. Blood (2009) 2.03
Succinate dehydrogenase and human diseases: new insights into a well-known enzyme. Eur J Hum Genet (2002) 2.00