Published in Am J Med Genet on February 15, 2002
Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet (2008) 2.83
Retracted Neurologic involvement in patients with atypical Chediak-Higashi disease. Neurology (2016) 2.04
Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism. Mov Disord (2013) 1.51
The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease. Traffic (2013) 1.35
Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Genome Res (2011) 1.08
Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1. Am J Med Genet A (2010) 1.06
Infections in patients with inherited defects in phagocytic function. Clin Microbiol Rev (2003) 1.02
Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning. Front Immunol (2014) 1.00
Lyst mutation in mice recapitulates iris defects of human exfoliation syndrome. Invest Ophthalmol Vis Sci (2008) 1.00
The molecular pathology of primary immunodeficiencies. J Mol Diagn (2004) 0.98
Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism. Orphanet J Rare Dis (2013) 0.97
Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? Curr Opin Allergy Clin Immunol (2007) 0.94
Drosophila mauve mutants reveal a role of LYST homologs late in the maturation of phagosomes and autophagosomes. Traffic (2012) 0.93
Current Strategies in Diagnosis of Inherited Storage Pool Defects. Transfus Med Hemother (2010) 0.90
Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis. Brain (2015) 0.90
Synapse associated protein 102 (SAP102) binds the C-terminal part of the scaffolding protein neurobeachin. PLoS One (2012) 0.88
Graded defects in cytotoxicity determine severity of hemophagocytic lymphohistiocytosis in humans and mice. Front Immunol (2013) 0.86
Grey, a novel mutation in the murine Lyst gene, causes the beige phenotype by skipping of exon 25. Mamm Genome (2006) 0.85
Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease. Orphanet J Rare Dis (2013) 0.83
Light microscopic examination of scalp hair samples as an aid in the diagnosis of paediatric disorders: retrospective review of more than 300 cases from a single centre. J Clin Pathol (2005) 0.83
What's new in using platelet research? To unravel thrombopathies and other human disorders. Eur J Pediatr (2007) 0.81
Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells. J Allergy Clin Immunol (2015) 0.81
Two novel mutations identified in an african-american child with chediak-higashi syndrome. Case Rep Med (2010) 0.79
Pediatric hemophagocytic syndromes: a diagnostic and therapeutic challenge. Allergy Asthma Clin Immunol (2005) 0.79
Whole-Exome Sequencing Reveals Mutations in Genes Linked to Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome in Fatal Cases of H1N1 Influenza. J Infect Dis (2015) 0.78
Towards the targeted management of Chediak-Higashi syndrome. Orphanet J Rare Dis (2014) 0.78
Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome. Case Rep Med (2010) 0.77
Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients. Front Immunol (2017) 0.75
Peripheral nervous system (PNS) manifestations of Chediak-Higashi disease (CHD). Muscle Nerve (2016) 0.75
Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome. Sci Rep (2017) 0.75
Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis. Hum Genet (2017) 0.75
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet (2002) 8.19
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med (2009) 7.53
Comprehensive analysis of NAC family genes in Oryza sativa and Arabidopsis thaliana. DNA Res (2003) 4.01
NALP1 in vitiligo-associated multiple autoimmune disease. N Engl J Med (2007) 3.99
Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy. Gastroenterology (2012) 3.28
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol (2009) 3.13
Stem-cell gene therapy for the Wiskott-Aldrich syndrome. N Engl J Med (2010) 3.09
Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families. Pigment Cell Res (2003) 3.07
Magnetic resonance perfusion measurements for the noninvasive detection of coronary artery disease. Circulation (2003) 3.04
Analysis of interleukin-21-induced Prdm1 gene regulation reveals functional cooperation of STAT3 and IRF4 transcription factors. Immunity (2009) 2.89
A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Nat Med (2006) 2.85
Factors associated with outcomes of unrelated cord blood transplant: guidelines for donor choice. Exp Hematol (2004) 2.81
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet (2003) 2.78
Ceruloplasmin is a NO oxidase and nitrite synthase that determines endocrine NO homeostasis. Nat Chem Biol (2006) 2.75
The diagnostic significance of soluble CD163 and soluble interleukin-2 receptor alpha-chain in macrophage activation syndrome and untreated new-onset systemic juvenile idiopathic arthritis. Arthritis Rheum (2007) 2.56
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. N Engl J Med (2010) 2.47
Telomere dysfunction induces environmental alterations limiting hematopoietic stem cell function and engraftment. Nat Med (2007) 2.41
Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Neurol (2010) 2.33
Priming for T helper type 2 differentiation by interleukin 2-mediated induction of interleukin 4 receptor alpha-chain expression. Nat Immunol (2008) 2.31
A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med (2009) 2.30
Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population. Sci Transl Med (2009) 2.25
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet (2003) 2.23
Assessment of diffuse myocardial fibrosis in rats using small-animal Look-Locker inversion recovery T1 mapping. Circ Cardiovasc Imaging (2011) 2.21
Magnetic resonance low-dose dobutamine test is superior to SCAR quantification for the prediction of functional recovery. Circulation (2004) 2.20
p14-MP1-MEK1 signaling regulates endosomal traffic and cellular proliferation during tissue homeostasis. J Cell Biol (2006) 2.15
HER2 status of circulating tumor cells in patients with metastatic breast cancer: a prospective, multicenter trial. Breast Cancer Res Treat (2010) 2.12
Prospective cohort study of the risk of prostate cancer among rotating-shift workers: findings from the Japan collaborative cohort study. Am J Epidemiol (2006) 2.11
OpenMM 4: A Reusable, Extensible, Hardware Independent Library for High Performance Molecular Simulation. J Chem Theory Comput (2012) 2.07
Gene therapy for Wiskott-Aldrich syndrome--long-term efficacy and genotoxicity. Sci Transl Med (2014) 2.00
Highly sensitive and high-throughput analysis of plant hormones using MS-probe modification and liquid chromatography-tandem mass spectrometry: an application for hormone profiling in Oryza sativa. Plant Cell Physiol (2009) 1.99
The phenotype of human STK4 deficiency. Blood (2012) 1.84
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nat Genet (2012) 1.81
Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. Blood (2012) 1.80
Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy. N Engl J Med (2009) 1.79
Phase II window study on rituximab in newly diagnosed pediatric mature B-cell non-Hodgkin's lymphoma and Burkitt leukemia. J Clin Oncol (2010) 1.79
Inkjet-printed microfluidic multianalyte chemical sensing paper. Anal Chem (2008) 1.78
A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency. Blood (2013) 1.74
Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A (2003) 1.72
Evidence outweighs belief. Minn Med (2010) 1.71
Safety and feasibility of high-dose dobutamine-atropine stress cardiovascular magnetic resonance for diagnosis of myocardial ischaemia: experience in 1000 consecutive cases. Eur Heart J (2004) 1.68
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet (2002) 1.67
Long-term prognostic value of dobutamine stress CMR. JACC Cardiovasc Imaging (2011) 1.64
Transapical aortic valve implantation in 194 patients: problems, complications, and solutions. Ann Thorac Surg (2010) 1.62
A phenotype-sensitizing Apoe-deficient genetic background reveals novel atherosclerosis predisposition loci in the mouse. Genetics (2002) 1.61
IL-10R polymorphisms are associated with very-early-onset ulcerative colitis. Inflamm Bowel Dis (2013) 1.59
WASP deficiency leads to global defects of directed leukocyte migration in vitro and in vivo. J Leukoc Biol (2005) 1.59
A phase 1/2 trial of arginine butyrate and ganciclovir in patients with Epstein-Barr virus-associated lymphoid malignancies. Blood (2006) 1.57
A prospective study for comparison of MR and CT imaging for detection of coronary artery stenosis. JACC Cardiovasc Imaging (2011) 1.57
Theoretical understanding of an absorption-based surface plasmon resonance sensor based on Kretchmann's theory. Anal Chem (2002) 1.57
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet (2003) 1.54
Fine-mapping of vitiligo susceptibility loci on chromosomes 7 and 9 and interactions with NLRP1 (NALP1). J Invest Dermatol (2009) 1.51
Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo. Pigment Cell Res (2005) 1.50
Unrelated cord blood transplantation for childhood acute myeloid leukemia: a Eurocord Group analysis. Blood (2003) 1.49
Thrombin-activatable fibrinolysis inhibitor and protein C inhibitor in interstitial lung disease. Am J Respir Crit Care Med (2003) 1.49
Biomedical discovery acceleration, with applications to craniofacial development. PLoS Comput Biol (2009) 1.49
The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation. Proc Natl Acad Sci U S A (2003) 1.46
Acceleration of the healing process and myocardial regeneration may be important as a mechanism of improvement of cardiac function and remodeling by postinfarction granulocyte colony-stimulating factor treatment. Circulation (2004) 1.44
Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease. Am J Gastroenterol (2011) 1.43
Natural killer cell dysfunction in patients with systemic-onset juvenile rheumatoid arthritis and macrophage activation syndrome. J Pediatr (2003) 1.42
Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. J Clin Endocrinol Metab (2007) 1.41
HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI. Am J Med Genet A (2010) 1.40
The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. J Clin Immunol (2013) 1.40
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. J Exp Med (2013) 1.39
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. Invest Ophthalmol Vis Sci (2008) 1.39
N-acetylcysteine prevents endotoxin-induced degeneration of oligodendrocyte progenitors and hypomyelination in developing rat brain. J Neurosci Res (2004) 1.38
In silico quantitative trait locus map for atherosclerosis susceptibility in apolipoprotein E-deficient mice. Arterioscler Thromb Vasc Biol (2003) 1.38
Minimal analytical characterization of engineered nanomaterials needed for hazard assessment in biological matrices. Nanotoxicology (2010) 1.38
Clinical evaluation of all-ceramic crowns fabricated from intraoral digital impressions based on the principle of active wavefront sampling. J Dent (2010) 1.37
Undergraduate educational environment, perceived preparedness for postgraduate clinical training, and pass rate on the National Medical Licensure Examination in Japan. BMC Med Educ (2010) 1.34
Natural killer cell dysfunction is a distinguishing feature of systemic onset juvenile rheumatoid arthritis and macrophage activation syndrome. Arthritis Res Ther (2004) 1.33
Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms. Arthritis Rheum (2008) 1.33
Cohort profile of the Japan Collaborative Cohort Study at final follow-up. J Epidemiol (2013) 1.33
Induction of centrosome amplification and chromosome instability in human bladder cancer cells by p53 mutation and cyclin E overexpression. Cancer Res (2004) 1.31
Attributable and absolute risk of lung cancer death by smoking status: findings from the Japan Collaborative Cohort Study. Int J Cancer (2003) 1.31
Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation. J Allergy Clin Immunol (2012) 1.30
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Blood (2008) 1.30
Increased proliferation of human synovial mesenchymal stem cells with autologous human serum: comparisons with bone marrow mesenchymal stem cells and with fetal bovine serum. Arthritis Rheum (2008) 1.30
Spontaneous dissection of the superior mesenteric artery in four cases treated with anticoagulation therapy. Intern Med (2004) 1.29
The rat Ruby ( R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain. Mamm Genome (2004) 1.29
IL-10 and IL-10 receptor defects in humans. Ann N Y Acad Sci (2011) 1.29
Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells. Proc Natl Acad Sci U S A (2005) 1.28
Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. Blood (2006) 1.28
Efficient moment-based inference of admixture parameters and sources of gene flow. Mol Biol Evol (2013) 1.26
Peripheral ghrelin transmits orexigenic signals through the noradrenergic pathway from the hindbrain to the hypothalamus. Cell Metab (2006) 1.26
Common variants in FOXP1 are associated with generalized vitiligo. Nat Genet (2010) 1.25
Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. J Clin Endocrinol Metab (2010) 1.24
Large genomic rearrangements and germline epimutations in Lynch syndrome. Int J Cancer (2009) 1.24
Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. Blood (2006) 1.23
A mesoscale iron enrichment in the western subarctic Pacific induces a large centric diatom bloom. Science (2003) 1.22
The transcriptional repressor Gfi1 controls STAT3-dependent dendritic cell development and function. Immunity (2005) 1.22
Associations between circulating microRNAs (miR-21, miR-34a, miR-122 and miR-451) and non-alcoholic fatty liver. Clin Chim Acta (2013) 1.21
Activated protein C inhibits bronchial hyperresponsiveness and Th2 cytokine expression in mice. Blood (2003) 1.21
Lymphocyte-dependent and Th2 cytokine-associated colitis in mice deficient in Wiskott-Aldrich syndrome protein. Gastroenterology (2007) 1.21
Perception of effort reflects central motor command during movement execution. Psychophysiology (2012) 1.20
Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries. Mov Disord (2006) 1.20
Bright, color-tunable fluorescent dyes in the Vis/NIR region: establishment of new "tailor-made" multicolor fluorophores based on borondipyrromethene. Chemistry (2009) 1.18
Infant acute lymphoblastic leukemia with MLL gene rearrangements: outcome following intensive chemotherapy and hematopoietic stem cell transplantation. Blood (2004) 1.18
Correlation of very long chain fatty acid accumulation and inflammatory disease progression in childhood X-ALD: implications for potential therapies. Neurobiol Dis (2003) 1.17