Published in Am J Hum Genet on July 23, 2009
A developmental and genetic classification for malformations of cortical development: update 2012. Brain (2012) 3.14
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Metabolic cutis laxa syndromes. J Inherit Metab Dis (2011) 1.25
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat (2011) 1.20
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The complexity of elastic fibre biogenesis in the skin--a perspective to the clinical heterogeneity of cutis laxa. Exp Dermatol (2012) 0.97
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). Hum Genet (2010) 0.97
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. Am J Hum Genet (2012) 0.96
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Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. Eur J Hum Genet (2013) 0.92
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The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet (2001) 4.54
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet (2001) 3.59
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Regulation of secretory vesicle traffic by Rab small GTPases. Cell Mol Life Sci (2008) 2.71
Tracing the retrograde route in protein trafficking. Cell (2008) 2.38
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Genetics of familial and sporadic amyotrophic lateral sclerosis. Biochim Biophys Acta (2006) 2.05
Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations. Nat Rev Genet (2009) 2.03
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet (2006) 1.99
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Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). J Biol Chem (1999) 1.79
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Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet (2002) 1.64
ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics. Hum Mol Genet (2003) 1.58
Different microtubule motors move early and late endocytic compartments. Traffic (2008) 1.50
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. Am J Hum Genet (2003) 1.49
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet (2008) 1.40
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet (2009) 1.40
Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature. Am J Med Genet (1984) 1.32
Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor. J Biol Chem (2004) 1.32
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. Hum Mol Genet (2006) 1.31
A novel binding protein composed of homophilic tetramer exhibits unique properties for the small GTPase Rab5. J Biol Chem (2001) 1.21
A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI. Nat Genet (1992) 1.20
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. J Invest Dermatol (2004) 1.16
De Barsy syndrome: a review of the phenotype. Clin Dysmorphol (2008) 1.14
Rab27 and its effectors in secretory granule exocytosis: a novel docking machinery composed of a Rab27.effector complex. Biochem Soc Trans (2006) 1.12
Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin. Helv Paediatr Acta (1975) 1.09
Involvement of the Ras-Ras-activated Rab5 guanine nucleotide exchange factor RIN2-Rab5 pathway in the hepatocyte growth factor-induced endocytosis of E-cadherin. J Biol Chem (2006) 1.06
GAPO syndrome associated with dilated cardiomyopathy: an unreported association. Am J Med Genet A (2009) 1.05
GAPO syndrome with the novel features of pulmonary hypertension, ankyloglossia, and prognathism. Am J Med Genet A (2009) 1.04
Selected disorders of connective tissue: pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis. Clin Dermatol (2005) 0.96
Analysis of dermal elastic fibers in the absence of fibulin-5 reveals potential roles for fibulin-5 in elastic fiber assembly. Matrix Biol (2009) 0.95
Early endocytic Rabs: functional prediction to functional characterization. Biochem Soc Symp (2005) 0.87
Rab5 GTPase and endocytosis. Biocell (1996) 0.86
Unusual oral findings in dermatosparaxis (Ehlers-Danlos syndrome type VIIC). J Oral Pathol Med (2003) 0.83
Rab5 regulates the dynamics of early endosome fusion. Biocell (1996) 0.83
GAPO syndrome: three new Brazilian cases, additional osseous manifestations, and review of the literature. Am J Med Genet A (2008) 0.81
Biochemical characterization of Alsin, a Rab5 and Rac1 guanine nucleotide exchange factor. Methods Enzymol (2005) 0.80
Geroderma osteodysplastica. Report of a new family. Pediatr Dermatol (2006) 0.77
The GAPO syndrome. Am J Med Genet (1987) 0.77
Revealing modular organization in the yeast transcriptional network. Nat Genet (2002) 6.73
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet (2004) 3.13
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol (2010) 2.87
Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N Engl J Med (2010) 2.82
IL-22-producing "T22" T cells account for upregulated IL-22 in atopic dermatitis despite reduced IL-17-producing TH17 T cells. J Allergy Clin Immunol (2009) 2.77
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol (2011) 2.62
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. J Invest Dermatol (2009) 2.58
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheum (2010) 2.50
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proc Natl Acad Sci U S A (2009) 2.36
The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist. J Invest Dermatol (2013) 2.22
The autologous serum skin test in a cohort of chronic idiopathic urticaria patients compared to respiratory allergy patients and healthy individuals. J Eur Acad Dermatol Venereol (2007) 2.20
Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis. Am J Dermatopathol (2005) 2.09
ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity. Hum Mol Genet (2005) 2.01
Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity. Nat Genet (2004) 1.99
Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population. Proc Natl Acad Sci U S A (2006) 1.99
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet (2005) 1.97
Low expression of the IL-23/Th17 pathway in atopic dermatitis compared to psoriasis. J Immunol (2008) 1.90
Epidermal terminal differentiation depends on B lymphocyte-induced maturation protein-1. Proc Natl Acad Sci U S A (2007) 1.85
Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients. Hum Mutat (2009) 1.85
EHD1 regulates beta1 integrin endosomal transport: effects on focal adhesions, cell spreading and migration. J Cell Sci (2007) 1.83
Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation. Mol Genet Metab (2004) 1.81
Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. J Invest Dermatol (2003) 1.80
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet (2003) 1.79
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. Am J Hum Genet (2006) 1.79
Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. J Invest Dermatol (2010) 1.71
Positive patch test reactions to allergens of the dental series and the relation to the clinical presentations. Contact Dermatitis (2006) 1.69
Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells. Blood (2008) 1.62
Major differences in inflammatory dendritic cells and their products distinguish atopic dermatitis from psoriasis. J Allergy Clin Immunol (2007) 1.60
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. Am J Hum Genet (2006) 1.57
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet (2012) 1.57
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. Am J Hum Genet (2007) 1.56
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. J Med Genet (2011) 1.55
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Am J Hum Genet (2005) 1.51
Broad defects in epidermal cornification in atopic dermatitis identified through genomic analysis. J Allergy Clin Immunol (2009) 1.50
Familial central precocious puberty suggests autosomal dominant inheritance. J Clin Endocrinol Metab (2004) 1.49
Prenatal diagnosis in Li-Fraumeni syndrome. J Pediatr Hematol Oncol (2004) 1.47
Increased plasma resistin and decreased omentin levels in Japanese patients with psoriasis. Arch Dermatol Res (2013) 1.45
A comparative study of immunohistochemistry and electron microscopy used in the diagnosis of epidermolysis bullosa. Am J Dermatopathol (2003) 1.44
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. Hum Genet (2005) 1.43
EHD3: a protein that resides in recycling tubular and vesicular membrane structures and interacts with EHD1. Traffic (2002) 1.42
Reply to ultrastructural study of the clinically uninvolved skin in familial tumoral calcinosis caused by mutations in GALNT3. Am J Dermatopathol (2006) 1.40
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. J Mol Med (Berl) (2004) 1.40
Vestibular evoked myogenic potentials and saccular plasticity in divers. Aviat Space Environ Med (2010) 1.40
Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting. Prenat Diagn (2010) 1.40
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. Am J Hum Genet (2009) 1.39
Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa. J Invest Dermatol (2006) 1.39
Clinical and imaging findings in patients with neurosyphilis: a study of a cohort and review of the literature. Int J Dermatol (2013) 1.39
Chlorpyrifos exacerbating pemphigus vulgaris: a preliminary report and suggested in vitro immunologic evaluation model. Skinmed (2006) 1.38
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. J Hum Genet (2006) 1.38
Recycling to the plasma membrane is delayed in EHD1 knockout mice. Traffic (2006) 1.37
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum Mutat (2011) 1.36
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet (2011) 1.36
A homozygous nonsense mutation in the gene for Tmem79, a component for the lamellar granule secretory system, produces spontaneous eczema in an experimental model of atopic dermatitis. J Allergy Clin Immunol (2013) 1.29
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. Am J Hum Genet (2008) 1.27
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. J Invest Dermatol (2007) 1.25
Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. Hum Mol Genet (2003) 1.25
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet (2011) 1.24
Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation. Eur J Dermatol (2004) 1.22
Connexin 26 regulates epidermal barrier and wound remodeling and promotes psoriasiform response. J Clin Invest (2006) 1.22
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatr Nephrol (2005) 1.22
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. Kidney Int (2005) 1.21
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet (2006) 1.21
Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome. Am J Med Genet B Neuropsychiatr Genet (2004) 1.20
Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome. J Invest Dermatol (2006) 1.20
Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease. Hum Mol Genet (2010) 1.19
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. Ann Neurol (2006) 1.19
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet (2012) 1.18
SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4. Am J Hum Genet (2008) 1.16
Familial pityriasis rubra pilaris is caused by mutations in CARD14. Am J Hum Genet (2012) 1.16
Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet (2005) 1.15
Comprehensive analysis of expression and function of 51 sarco(endo)plasmic reticulum Ca2+-ATPase mutants associated with Darier disease. J Biol Chem (2006) 1.14
Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle. Differentiation (2006) 1.14