Published in Nat Genet on December 23, 2007
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Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Eur J Hum Genet (2010) 1.39
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A selective sweep of >8 Mb on chromosome 26 in the Boxer genome. BMC Genomics (2011) 0.98
The complexity of elastic fibre biogenesis in the skin--a perspective to the clinical heterogeneity of cutis laxa. Exp Dermatol (2012) 0.97
Vacuolar H(+)-ATPase subunits Voa1 and Voa2 cooperatively regulate secretory vesicle acidification, transmitter uptake, and storage. Mol Biol Cell (2011) 0.97
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Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. Am J Hum Genet (2012) 0.96
Glycosylation disorders of membrane trafficking. Glycoconj J (2012) 0.95
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Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism. Matrix Biol (2013) 0.94
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. Hum Mutat (2012) 0.93
Human H+ATPase a4 subunit mutations causing renal tubular acidosis reveal a role for interaction with phosphofructokinase-1. Am J Physiol Renal Physiol (2008) 0.93
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. Eur J Hum Genet (2013) 0.92
Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype. Proc Natl Acad Sci U S A (2012) 0.92
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Am J Hum Genet (2009) 0.92
Delineating diseases by IMS-MS profiling of serum N-linked glycans. J Proteome Res (2011) 0.92
Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG. Glycoconj J (2012) 0.90
Spatial regulation of Golgi phosphatidylinositol-4-phosphate is required for enzyme localization and glycosylation fidelity. Traffic (2010) 0.90
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. Orphanet J Rare Dis (2013) 0.90
An extended nomenclature for mammalian V-ATPase subunit genes and splice variants. PLoS One (2010) 0.89
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. Am J Hum Genet (2015) 0.87
Determinants of Glycosaminoglycan (GAG) Structure. Biomolecules (2015) 0.86
Optic nerve compression and retinal degeneration in Tcirg1 mutant mice lacking the vacuolar-type H-ATPase a3 subunit. PLoS One (2010) 0.86
De Barsy syndrome and ATP6V0A2-CDG. Eur J Hum Genet (2009) 0.86
Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome. Mol Genet Genomic Med (2014) 0.86
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. Am J Hum Genet (2016) 0.86
Human diseases associated with form and function of the Golgi complex. Int J Mol Sci (2013) 0.85
Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AASsites. BMC Bioinformatics (2011) 0.84
Genomic variants and variations in malformations of cortical development. Pediatr Clin North Am (2015) 0.84
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting. J Invest Dermatol (2015) 0.83
The N termini of a-subunit isoforms are involved in signaling between vacuolar H+-ATPase (V-ATPase) and cytohesin-2. J Biol Chem (2013) 0.83
Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy. Eur J Pediatr (2012) 0.82
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. Nat Commun (2016) 0.82
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities. J Inherit Metab Dis (2011) 0.82
Insights into complexity of congenital disorders of glycosylation. Biochem Med (Zagreb) (2012) 0.81
Disorders of lysosomal acidification-The emerging role of v-ATPase in aging and neurodegenerative disease. Ageing Res Rev (2016) 0.80
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. Am J Hum Genet (2016) 0.80
Dissecting functions of the conserved oligomeric Golgi tethering complex using a cell-free assay. Traffic (2013) 0.80
The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity. Indian J Dermatol (2015) 0.78
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. Hum Genet (2016) 0.78
Mass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation. Glycoconj J (2016) 0.78
Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration. Hum Mol Genet (2015) 0.77
VMA21 deficiency: a case of myocyte indigestion. Cell (2009) 0.77
Fibrotic response in fibroblasts from congenital disorders of glycosylation. J Cell Mol Med (2011) 0.77
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A. Neurogenetics (2016) 0.77
Extracellular and Luminal pH Regulation by Vacuolar H+-ATPase Isoform Expression and Targeting to the Plasma Membrane and Endosomes. J Biol Chem (2016) 0.77
Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome? Clin Dysmorphol (2011) 0.77
Lessons from cutis laxa syndromes: wrinkles due to improper reloading of the extracellular matrix? Eur J Hum Genet (2009) 0.77
ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA. Mol Genet Metab Rep (2014) 0.77
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa. J Hum Genet (2016) 0.76
Functional vacuolar ATPase (V-ATPase) proton pumps traffic to the enterocyte brush border membrane and require CFTR. Am J Physiol Cell Physiol (2013) 0.76
Mislocalization of large ARF-GEFs as a potential mechanism for BFA resistance in COG-deficient cells. Exp Cell Res (2011) 0.76
The Vacuolar ATPase a2-subunit regulates Notch signaling in triple-negative breast cancer cells. Oncotarget (2015) 0.76
Congenital protein hypoglycosylation diseases. Appl Clin Genet (2012) 0.75
The V-ATPase a2 isoform controls mammary gland development through Notch and TGF-β signaling. Cell Death Dis (2016) 0.75
Extra-renal locations of the a4 subunit of H(+)ATPase. BMC Cell Biol (2016) 0.75
Genome resequencing and bioinformatic analysis of SNP containing candidate genes in the autoimmune vitiligo Smyth line chicken model. BMC Genomics (2014) 0.75
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. Am J Hum Genet (2016) 0.75
Impaired ATP6V0A2 expression contributes to Golgi dispersion and glycosylation changes in senescent cells. Sci Rep (2015) 0.75
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. Int J Mol Sci (2017) 0.75
Actin Filaments Are Involved in the Coupling of V0-V1 Domains of Vacuolar H+-ATPase at the Golgi Complex. J Biol Chem (2016) 0.75
Label-free analysis of o-glycosylation site-occupancy based on the signal intensity of glycopeptide/peptide ions. Mass Spectrom (Tokyo) (2012) 0.75
Bridging the Gap between Glycosylation and Vesicle Traffic. Front Cell Dev Biol (2016) 0.75
Cutis laxa autosomal recessive type II or wrinkly skin syndrome? Indian Dermatol Online J (2016) 0.75
Autosomal Recessive Cutis Laxa Type II: Report of Novel Mutation in a Child. Indian Dermatol Online J (2017) 0.75
Direct interaction of the Golgi V-ATPase a-subunit isoform with PI(4)P drives localization of Golgi V-ATPases in yeast. Mol Biol Cell (2017) 0.75
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature. J Inherit Metab Dis (2017) 0.75
Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med (2012) 10.80
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Am J Hum Genet (2008) 8.78
Diagnostic genome profiling in mental retardation. Am J Hum Genet (2005) 8.60
A de novo paradigm for mental retardation. Nat Genet (2010) 8.57
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet (2004) 6.90
Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancer. Sci Transl Med (2010) 6.39
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet (2006) 6.15
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72
Mitochondrial rhomboid PARL regulates cytochrome c release during apoptosis via OPA1-dependent cristae remodeling. Cell (2006) 5.51
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet (2003) 5.43
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet (2006) 5.29
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nat Genet (2012) 5.28
Correlation between genetic and geographic structure in Europe. Curr Biol (2008) 5.02
A text-mining analysis of the human phenome. Eur J Hum Genet (2006) 4.98
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature (2011) 4.85
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol (2011) 4.84
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet (2006) 4.77
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nat Genet (2008) 4.44
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell (2010) 4.37
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet (2003) 4.34
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
The disintegrin/metalloprotease ADAM 10 is essential for Notch signalling but not for alpha-secretase activity in fibroblasts. Hum Mol Genet (2002) 4.19
The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway. Genes Cells (2003) 4.11
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics (2004) 4.00
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96
HomozygosityMapper--an interactive approach to homozygosity mapping. Nucleic Acids Res (2009) 3.86
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
De novo mutations in human genetic disease. Nat Rev Genet (2012) 3.81
Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet (2012) 3.73
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60
Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol (2012) 3.29
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet (2006) 3.26
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet (2003) 3.23
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22
A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nat Genet (2002) 3.19
Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium. J Natl Cancer Inst (2010) 3.18
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet (2006) 3.17
High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Am J Hum Genet (2002) 3.10
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet (2009) 3.06
Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Hum Genet (2009) 3.01
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet (2008) 3.00
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet (2013) 2.91
ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics (2005) 2.90
Disease gene identification strategies for exome sequencing. Eur J Hum Genet (2012) 2.89
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet (2005) 2.83
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat (2009) 2.81
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet (2002) 2.81
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet (2007) 2.75
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet (2008) 2.74
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet (2005) 2.70
GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
Unlocking Mendelian disease using exome sequencing. Genome Biol (2011) 2.62
Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med (2014) 2.62
Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet (2008) 2.61
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci (2009) 2.54
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell (2012) 2.54
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet (2004) 2.50
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell (2010) 2.49
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet (2007) 2.46
A novel pathway combining calreticulin exposure and ATP secretion in immunogenic cancer cell death. EMBO J (2012) 2.45
Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol. Hum Mol Genet (2004) 2.45
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet (2012) 2.44
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet (2004) 2.40
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet (2002) 2.34
A new web-based data mining tool for the identification of candidate genes for human genetic disorders. Eur J Hum Genet (2003) 2.32
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A (2006) 2.31
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet (2006) 2.31
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet (2002) 2.30
TLR4 polymorphisms, infectious diseases, and evolutionary pressure during migration of modern humans. Proc Natl Acad Sci U S A (2007) 2.28
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28
Novel research horizons for presenilins and γ-secretases in cell biology and disease. Annu Rev Cell Dev Biol (2010) 2.25
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest (2011) 2.21
The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization. J Clin Invest (2009) 2.18
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. PLoS Genet (2010) 2.14
NuSAP, a novel microtubule-associated protein involved in mitotic spindle organization. J Cell Biol (2003) 2.13
Congenital disorders of glycosylation: a rapidly expanding disease family. Annu Rev Genomics Hum Genet (2007) 2.12
Plant nitric oxide synthase: a never-ending story? Trends Plant Sci (2006) 2.12