Published in Am J Med Genet A on March 15, 2004
A case of dyschromatosis universalis hereditaria with adermatoglyphia: A rare association. Indian Dermatol Online J (2015) 1.09
Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria. PLoS One (2013) 0.88
Reticulate dermatoses. Indian J Dermatol (2014) 0.83
Photoletter to the editor: Dyschromatosis universalis hereditaria: an infrequently occurring entity in Europe. J Dermatol Case Rep (2012) 0.83
Dyschromatosis universalis hereditaria with renal failure. Case Rep Dermatol (2015) 0.80
Dyschromias: A Series of Five Interesting Cases from India. Indian J Dermatol (2015) 0.79
Dyschromatosis universalis hereditaria with involvement of palms. Indian Dermatol Online J (2014) 0.75
A novel P53/POMC/Gαs/SASH1 autoregulatory feedback loop activates mutated SASH1 to cause pathologic hyperpigmentation. J Cell Mol Med (2016) 0.75
Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing. Chin Med J (Engl) (2016) 0.75
A Case Report of Dyschromatosis Universalis Hereditaria (DUH) with Primary Ovarian Failure (POF). J Clin Diagn Res (2016) 0.75
Dyschromatosis universalis hereditaria: Infrequent genodermatoses in India. Indian J Hum Genet (2013) 0.75
Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system-a novel entity? Eur J Pediatr (2009) 0.75
Dyschromatosis symmetrica hereditaria with cutaneous lupus erythematosus and hyperthyroidism. Int Med Case Rep J (2017) 0.75
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Am J Hum Genet (2008) 8.78
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol (2011) 4.84
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway. Genes Cells (2003) 4.11
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet (2006) 3.26
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Hum Genet (2009) 3.01
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
Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. J Invest Dermatol (2013) 2.31
The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization. J Clin Invest (2009) 2.18
Plant nitric oxide synthase: a never-ending story? Trends Plant Sci (2006) 2.12
Role of Runx genes in chondrocyte differentiation. Dev Biol (2002) 2.12
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet (2009) 2.09
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat (2008) 2.03
Wnt signaling and Dupuytren's disease. N Engl J Med (2011) 2.02
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet (2005) 1.98
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. Am J Med Genet A (2005) 1.91
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest (2005) 1.88
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet (2006) 1.84
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat (2002) 1.81
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet (2006) 1.79
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nat Genet (2009) 1.75
A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet (2009) 1.71
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest (2005) 1.68
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet (2012) 1.65
The other trinucleotide repeat: polyalanine expansion disorders. Curr Opin Genet Dev (2005) 1.62
A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. Blood (2013) 1.61
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain (2014) 1.55
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proc Natl Acad Sci U S A (2003) 1.52
Genetic disorders of the skeleton: a developmental approach. Am J Hum Genet (2003) 1.52
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet (2004) 1.45
Comprehensive expression analysis of all Wnt genes and their major secreted antagonists during mouse limb development and cartilage differentiation. Gene Expr Patterns (2009) 1.43
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci U S A (2004) 1.42
MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites. PLoS One (2011) 1.41
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet (2008) 1.40
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One (2013) 1.40
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet (2009) 1.40
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. J Exp Med (2013) 1.39
Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet (2013) 1.39
Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. Eur J Pediatr (2004) 1.39
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet (2012) 1.38
A misplaced lncRNA causes brachydactyly in humans. J Clin Invest (2012) 1.36
Deletion and point mutations of PTHLH cause brachydactyly type E. Am J Hum Genet (2010) 1.35
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet (2008) 1.34
Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Hum Mutat (2004) 1.34
Redundant function of the heparan sulfate 6-O-endosulfatases Sulf1 and Sulf2 during skeletal development. Dev Dyn (2008) 1.30
Multiple roles for neurofibromin in skeletal development and growth. Hum Mol Genet (2007) 1.29
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. J Clin Invest (2005) 1.29
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum Mol Genet (2004) 1.29
CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet (2009) 1.27
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet (2011) 1.24
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur J Hum Genet (2003) 1.23
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. Eur J Pediatr (2007) 1.22
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet (2013) 1.22
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet (2011) 1.20
Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment. Circulation (2006) 1.20
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. Eur J Hum Genet (2005) 1.19
The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process. Nucleic Acids Res (2011) 1.18
Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. Dev Dyn (2004) 1.18
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. Am J Hum Genet (2013) 1.17
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). Hum Mutat (2005) 1.17
Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy. Epilepsy Res (2002) 1.17
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. Am J Med Genet A (2004) 1.16
Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis. Hum Mol Genet (2004) 1.16
Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. J Biol Chem (2012) 1.16
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). Am J Med Genet A (2003) 1.16
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet (2012) 1.15
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. Eur J Hum Genet (2003) 1.14
Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing. BMC Genomics (2011) 1.13
A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E. Hum Mol Genet (2009) 1.13
RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome. Hum Genet (2004) 1.12
Expression of Runx2 transcription factor in non-skeletal tissues, sperm and brain. J Cell Physiol (2008) 1.11
Structural variations, the regulatory landscape of the genome and their alteration in human disease. Bioessays (2013) 1.10
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet (2011) 1.10
The organization of the osteocyte network mirrors the extracellular matrix orientation in bone. J Struct Biol (2010) 1.10
Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis. J Clin Invest (2008) 1.09
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN. PLoS Genet (2009) 1.09
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. J Med Genet (2007) 1.08
Deletions of chromosomal regulatory boundaries are associated with congenital disease. Genome Biol (2014) 1.07
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. Eur J Hum Genet (2006) 1.07
Mesenchymal stromal cells of myelodysplastic syndrome and acute myeloid leukemia patients have distinct genetic abnormalities compared with leukemic blasts. Blood (2011) 1.06
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. Am J Hum Genet (2010) 1.06
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet (2010) 1.06
A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range. Nature (2009) 1.06
The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements. Mech Dev (2002) 1.06
Copy-number variations, noncoding sequences, and human phenotypes. Annu Rev Genomics Hum Genet (2011) 1.06
Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees. PLoS One (2013) 1.05
High-throughput sequencing of microdissected chromosomal regions. Eur J Hum Genet (2009) 1.04
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. Eur J Hum Genet (2006) 1.03
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. Eur J Hum Genet (2012) 1.03
Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2. Genes Cells (2004) 1.03
Regulation of cell polarity in the cartilage growth plate and perichondrium of metacarpal elements by HOXD13 and WNT5A. Dev Biol (2013) 1.03
Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse. Genes Chromosomes Cancer (2003) 1.02
Evolution of a core gene network for skeletogenesis in chordates. PLoS Genet (2008) 1.00
Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1. Eur J Hum Genet (2007) 1.00
Negative regulation of Wnt signaling mediated by CK1-phosphorylated Dishevelled via Ror2. FASEB J (2010) 1.00