Published in J Invest Dermatol on May 31, 2007
Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). Annu Rev Immunol (2009) 5.91
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
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Towards the targeted management of Chediak-Higashi syndrome. Orphanet J Rare Dis (2014) 0.78
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A post-developmental genetic screen for zebrafish models of inherited liver disease. PLoS One (2015) 0.76
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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
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Chemical individuality: concept and outlook. J Inherit Metab Dis (2008) 0.75
Agammaglobulinaemia despite terminal B-cell differentiation in a patient with a novel LRBA mutation. Clin Transl Immunology (2017) 0.75
NT5E mutations and arterial calcifications. N Engl J Med (2011) 8.71
Revised diagnostic criteria for the pseudotumor cerebri syndrome in adults and children. Neurology (2013) 8.25
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. N Engl J Med (2011) 6.34
Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med (2008) 5.34
Natural history of alkaptonuria. N Engl J Med (2002) 5.32
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med (2009) 4.97
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med (2009) 4.96
Platelet polyphosphates are proinflammatory and procoagulant mediators in vivo. Cell (2009) 4.50
Novel adenovirus-based vaccines induce broad and sustained T cell responses to HCV in man. Sci Transl Med (2012) 3.99
Safety and efficacy of RNAi therapy for transthyretin amyloidosis. N Engl J Med (2013) 3.97
American Society of Echocardiography recommendations for quality echocardiography laboratory operations. J Am Soc Echocardiogr (2011) 3.32
BLUEPRINT to decode the epigenetic signature written in blood. Nat Biotechnol (2012) 3.24
Large-scale proteomics and phosphoproteomics of urinary exosomes. J Am Soc Nephrol (2008) 3.22
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet Med (2011) 3.14
Adalimumab for the treatment of moderate to severe Hidradenitis suppurativa: a parallel randomized trial. Ann Intern Med (2012) 3.14
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Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet (2008) 2.83
Circulating fibrocytes as biomarker of prognosis in Hermansky-Pudlak syndrome. Am J Respir Crit Care Med (2014) 2.77
Perilipin A is essential for the translocation of hormone-sensitive lipase during lipolytic activation. J Cell Biol (2003) 2.77
Translocator protein (18 kDa) (TSPO) as a therapeutic target for neurological and psychiatric disorders. Nat Rev Drug Discov (2010) 2.68
Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum. Mol Genet Metab (2011) 2.65
Analysis of the matrix metalloproteinase family reveals that MMP8 is often mutated in melanoma. Nat Genet (2009) 2.58
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. Gastroenterology (2012) 2.33
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat Genet (2009) 2.32
Retracted A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. Am J Hum Genet (2011) 2.25
Antiphospholipase A2 receptor antibody titer and subclass in idiopathic membranous nephropathy. J Am Soc Nephrol (2012) 2.21
Nonacid reflux in patients with chronic cough on acid-suppressive therapy. Chest (2006) 2.14
Retro-orbital injections in mice. Lab Anim (NY) (2011) 2.09
Low-dose acetazolamide reverses periventricular white matter hyperintensities in iNPH. Neurology (2014) 2.08
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest (2007) 2.04
Long-term follow-up of well-treated nephropathic cystinosis patients. J Pediatr (2004) 2.02
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood (2010) 2.00
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Mol Genet Metab (2011) 1.98
Post-translational regulation of adipose differentiation-related protein by the ubiquitin/proteasome pathway. J Biol Chem (2005) 1.97
Gene profile of electroconvulsive seizures: induction of neurotrophic and angiogenic factors. J Neurosci (2003) 1.95
Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy. J Am Soc Nephrol (2013) 1.94
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol (2013) 1.90
Detecting false-positive signals in exome sequencing. Hum Mutat (2012) 1.87
Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis. J Am Soc Nephrol (2009) 1.86
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J Invest Dermatol (2011) 1.82
Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intern Med (2007) 1.81
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest (2013) 1.74
Use of nitisinone in patients with alkaptonuria. Metabolism (2005) 1.70
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum Genet (2003) 1.69
Effect of the secretory small GTPase Rab27B on breast cancer growth, invasion, and metastasis. J Natl Cancer Inst (2010) 1.65
Activation of hormone-sensitive lipase requires two steps, protein phosphorylation and binding to the PAT-1 domain of lipid droplet coat proteins. J Biol Chem (2009) 1.64
Measurement of the scleral canal using optical coherence tomography in patients with optic nerve drusen. Am J Ophthalmol (2005) 1.64
KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function. Proc Natl Acad Sci U S A (2010) 1.64
American Society of Echocardiography: Remote Echocardiography with Web-Based Assessments for Referrals at a Distance (ASE-REWARD) Study. J Am Soc Echocardiogr (2013) 1.62
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. Dev Med Child Neurol (2013) 1.61
Estimating sympathetic tone by recording subcutaneous nerve activity in ambulatory dogs. J Cardiovasc Electrophysiol (2014) 1.61
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet (2011) 1.54
Neurofibromatosis type 1 protein and amyloid precursor protein interact in normal human melanocytes and colocalize with melanosomes. J Invest Dermatol (2006) 1.53
Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. N Engl J Med (2014) 1.53
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. J AAPOS (2013) 1.52
The ultrastructure of camel blood platelets: a comparative study with human, bovine, and equine cells. Platelets (2008) 1.52
Molecular defects that affect platelet dense granules. Semin Thromb Hemost (2004) 1.52
Vitamin A in the cerebrospinal fluid of patients with and without idiopathic intracranial hypertension. Ann Neurol (2002) 1.50
Glucocerebrosidase is shaking up the synucleinopathies. Brain (2014) 1.50
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet (2011) 1.48
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nat Genet (2004) 1.45
Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. AJR Am J Roentgenol (2002) 1.45
Varicella-zoster virus acute myelitis in a patient with MS treated with natalizumab. Neurology (2013) 1.44
A candidate gene for autoimmune myasthenia gravis. Neurology (2012) 1.44
Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. Hum Mutat (2007) 1.44
Phosphorylated FADD induces NF-kappaB, perturbs cell cycle, and is associated with poor outcome in lung adenocarcinomas. Proc Natl Acad Sci U S A (2005) 1.44
Effects of heat on camel platelet structure and function-a comparative study with humans. Platelets (2008) 1.43
Long-term course of demyelinating neuropathies occurring during tumor necrosis factor-alpha-blocker therapy. Arch Neurol (2009) 1.43
Alpha-synuclein interacts with Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases. J Biol Chem (2011) 1.42
Vasculitis neuropathy mimicking lower limb mono-radiculopathy: a study and follow-up of 8 cases. Intern Emerg Med (2012) 1.40
Rab7 and Rab27a control two motor protein activities involved in melanosomal transport. Pigment Cell Res (2006) 1.39
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. Nat Genet (2011) 1.38