Published in Osteoporos Int on February 27, 2013
The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol (2013) 2.40
Rapid skeletal turnover in a radiographic mimic of osteopetrosis. J Bone Miner Res (2014) 2.00
Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. Mol Genet Metab (2014) 0.99
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis. Bone (2013) 0.88
Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing. Genet Med (2015) 0.87
Osteogenesis imperfecta in children and adolescents-new developments in diagnosis and treatment. Osteoporos Int (2016) 0.85
Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery. Osteoporos Int (2013) 0.81
Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice. Sci Rep (2016) 0.79
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. PLoS One (2015) 0.77
Lysinuric Protein Intolerance Presenting with Multiple Fractures. Mol Genet Metab Rep (2014) 0.75
Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid. J Hum Genet (2016) 0.75
Lessons from next-generation sequencing in genetic skeletal disorders. Bonekey Rep (2014) 0.75
A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes. Medicine (Baltimore) (2017) 0.75
As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene. J Bone Miner Res (2014) 0.75
Summarizing and correcting the GC content bias in high-throughput sequencing. Nucleic Acids Res (2012) 4.94
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell (2006) 4.10
Comparison of solution-based exome capture methods for next generation sequencing. Genome Biol (2011) 2.78
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat (2008) 2.66
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2010) 2.39
Comprehensive comparison of three commercial human whole-exome capture platforms. Genome Biol (2011) 2.15
Exome sequencing: dual role as a discovery and diagnostic tool. Ann Neurol (2012) 1.89
Mutations in SERPINF1 cause osteogenesis imperfecta type VI. J Bone Miner Res (2011) 1.83
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet (2008) 1.78
The new bone biology: pathologic, molecular, and clinical correlates. Am J Med Genet A (2006) 1.73
Classification of Osteogenesis Imperfecta revisited. Eur J Med Genet (2009) 1.64
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res (2011) 1.53
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. Eur J Hum Genet (2011) 1.50
The skeletal dysplasias. Genet Med (2010) 1.49
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Hum Mol Genet (2012) 1.31
Why do we need a diagnosis? A qualitative study of parents' experiences, coping and needs, when the newborn child is severely disabled. Child Care Health Dev (2007) 1.24
Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy. J Mol Diagn (2012) 0.94
Molecular defects causing skeletal dysplasias. Endocr Dev (2011) 0.92
Dysosteosclerosis. AJR Am J Roentgenol (1978) 0.89
Clinical and radiologic findings in an adult male with dysosteosclerosis. Am J Med Genet A (2008) 0.85
Osteomyelitis of the mandible in a patient with dysosteosclerosis. Report of a case. Oral Surg Oral Med Oral Pathol (1991) 0.80
Targeted next-generation sequencing: microdroplet PCR approach for variant detection in research and clinical samples. Expert Rev Mol Diagn (2011) 0.79
Initial sequencing and analysis of the human genome. Nature (2001) 212.86
The genome sequence of Drosophila melanogaster. Science (2000) 74.32
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res (1988) 9.94
Fas(CD95)/FasL interactions required for programmed cell death after T-cell activation. Nature (1995) 7.52
Generation of cDNA probes directed by amino acid sequence: cloning of urate oxidase. Science (1988) 5.72
Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains. Genome Res (1997) 4.82
Vehicle travel speeds and the incidence of fatal pedestrian crashes. Accid Anal Prev (1997) 4.09
Comparative sequence analysis of a gene-rich cluster at human chromosome 12p13 and its syntenic region in mouse chromosome 6. Genome Res (1998) 3.80
A BAC-based physical map of the major autosomes of Drosophila melanogaster. Science (2000) 3.51
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet (1996) 3.45
Quality of care given to first time birth control patients at a free clinic. Am J Public Health (1976) 3.27
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet (1995) 2.93
AtHKT1 is a salt tolerance determinant that controls Na(+) entry into plant roots. Proc Natl Acad Sci U S A (2001) 2.75
Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science (1993) 2.75
Analysis of the quality and utility of random shotgun sequencing at low redundancies. Genome Res (1998) 2.74
The histone deacetylase inhibitor and chemotherapeutic agent suberoylanilide hydroxamic acid (SAHA) induces a cell-death pathway characterized by cleavage of Bid and production of reactive oxygen species. Proc Natl Acad Sci U S A (2001) 2.65
Pseudorabies virus infection of the rat central nervous system: ultrastructural characterization of viral replication, transport, and pathogenesis. J Neurosci (1993) 2.64
Roles of the highly conserved aspartate and lysine residues in the response regulator of bacterial chemotaxis. J Biol Chem (1991) 2.58
Protection against Fas-dependent Th1-mediated apoptosis by antigen receptor engagement in B cells. Nature (1995) 2.43
Multiplex PCR: advantages, development, and applications. PCR Methods Appl (1994) 2.42
PCR test for cystic fibrosis deletion. Nature (1990) 2.26
Large-scale concatenation cDNA sequencing. Genome Res (1997) 2.18
Long HIV-1 incubation periods and dynamics of transmission within a family. Lancet (1990) 2.17
Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination. Genome Res (1997) 2.17
The molecular basis of the sparse fur mouse mutation. Science (1987) 2.09
Participation of target Fas protein in apoptosis pathway induced by CD4+ Th1 and CD8+ cytotoxic T cells. Proc Natl Acad Sci U S A (1994) 2.09
Spatiotemporal regulation of cell-cycle genes by SHORTROOT links patterning and growth. Nature (2010) 2.05
Simultaneous shotgun sequencing of multiple cDNA clones. DNA Seq (1997) 2.04
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am J Hum Genet (1999) 1.98
Termination of DNA synthesis by novel 3'-modified-deoxyribonucleoside 5'-triphosphates. Nucleic Acids Res (1994) 1.95
Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution. Hum Mol Genet (1996) 1.93
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet (1991) 1.93
Cloning of the Vibrio harveyi luciferase genes: use of a synthetic oligonucleotide probe. Proc Natl Acad Sci U S A (1983) 1.88
Hot-stop PCR: a simple and general assay for linear quantitation of allele ratios. Nat Genet (2000) 1.88
Pentanucleotide repeat length polymorphism at the human CD4 locus. Nucleic Acids Res (1991) 1.85
CT findings in benign fibrous mesothelioma of the pleura: pathologic correlation in nine patients. AJR Am J Roentgenol (1992) 1.83
Identification of motifs for cell adhesion within the repeated domains of transforming growth factor-beta-induced gene, betaig-h3. J Biol Chem (2000) 1.82
A "double adaptor" method for improved shotgun library construction. Anal Biochem (1996) 1.81
Neural substrates, experimental evidences and functional hypothesis of acupuncture mechanisms. Acta Neurol Scand (2006) 1.77
Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage. Science (1987) 1.76
Electrophoretically uniform fluorescent dyes for automated DNA sequencing. Science (1996) 1.75
Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet (1997) 1.74
Expression of the murine Duchenne muscular dystrophy gene in muscle and brain. Science (1988) 1.70
Nucleotide sequence of the luxA gene of Vibrio harveyi and the complete amino acid sequence of the alpha subunit of bacterial luciferase. J Biol Chem (1985) 1.70
Non-erosive reflux disease (NERD)--acid reflux and symptom patterns. Aliment Pharmacol Ther (2003) 1.69
A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. Nat Genet (1993) 1.67
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet (1999) 1.67
Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. Proc Natl Acad Sci U S A (1990) 1.66
A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13. Genome Res (1996) 1.66
Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele. Proc Natl Acad Sci U S A (1986) 1.65
Folate intake and the risk of colorectal cancer in a Korean population. Eur J Clin Nutr (2009) 1.65
Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I. J Clin Invest (1990) 1.61
A clone-array pooled shotgun strategy for sequencing large genomes. Genome Res (2001) 1.60
GSTP1 CpG island hypermethylation is responsible for the absence of GSTP1 expression in human prostate cancer cells. Am J Pathol (2001) 1.60
The drug efflux protein, P-glycoprotein, additionally protects drug-resistant tumor cells from multiple forms of caspase-dependent apoptosis. Proc Natl Acad Sci U S A (1998) 1.60
Evaluation of an emergency department-based injury surveillance project in China using WHO guidelines. Inj Prev (2009) 1.60
Selective regulation of apoptosis: the cytotoxic lymphocyte serpin proteinase inhibitor 9 protects against granzyme B-mediated apoptosis without perturbing the Fas cell death pathway. Mol Cell Biol (1998) 1.59
Evolution of human immunodeficiency virus type 1 nucleotide sequence diversity among close contacts. Proc Natl Acad Sci U S A (1991) 1.58
Analysis of human immunodeficiency virus type 1 integrase mutants. Virology (1995) 1.58
Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000. Clin Genet (2003) 1.58
Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet (1996) 1.52
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. Nat Genet (1998) 1.51
Oxygen depletion induced dormancy in Mycobacterium smegmatis. FEMS Microbiol Lett (1998) 1.51
A human dimorphism resulting from loss of an Alu. Genomics (1992) 1.49
Previous pulmonary diseases and risk of lung cancer in Gansu Province, China. Int J Epidemiol (2001) 1.46
Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxis. J Biol Chem (2001) 1.45
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet (1996) 1.44
Night-time intra-oesophageal bile and acid: a comparison between gastro-oesophageal reflux disease patients who failed and those who were treated successfully with a proton pump inhibitor. Aliment Pharmacol Ther (2011) 1.42
CRHR1 genotypes, neural circuits and the diathesis for anxiety and depression. Mol Psychiatry (2012) 1.42
Elimination of residual natural nucleotides from 3'-O-modified-dNTP syntheses by enzymatic mop-up. Biotechniques (1998) 1.41
The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum Mol Genet (1997) 1.39
Cytosolic delivery of granzyme B by bacterial toxins: evidence that endosomal disruption, in addition to transmembrane pore formation, is an important function of perforin. Mol Cell Biol (1999) 1.39
Rhabdomyosarcoma of the head and neck in adults: MR and CT findings. AJNR Am J Neuroradiol (1997) 1.38
Autism in Angelman syndrome: implications for autism research. Clin Genet (2004) 1.37
Efficient nuclear targeting of granzyme B and the nuclear consequences of apoptosis induced by granzyme B and perforin are caspase-dependent, but cell death is caspase-independent. J Biol Chem (1998) 1.36
Expression patterns of bone-related proteins during osteoblastic differentiation in MC3T3-E1 cells. J Cell Biochem (1996) 1.36
Evaluation of cold knife urethrotomy for the treatment of anastomotic stricture after radical retropubic prostatectomy. J Urol (2001) 1.35
Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta. J Biol Chem (1988) 1.34
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. Am J Hum Genet (1998) 1.33
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet (2009) 1.31
Fine structure of the human FMR1 gene. Hum Mol Genet (1993) 1.30
Spire contains actin binding domains and is related to ascidian posterior end mark-5. Development (1999) 1.29
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat (2008) 1.27
Identification, molecular cloning, and distribution of a short variant of the 5-hydroxytryptamine2C receptor produced by alternative splicing. Mol Pharmacol (1996) 1.27
Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet (1997) 1.26
The use of primers from highly conserved pol regions to identify uncharacterized retroviruses by the polymerase chain reaction. J Virol Methods (1990) 1.26
Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review. Am J Med Genet A (2007) 1.26
Unlocking the secrets of cytotoxic granule proteins. J Leukoc Biol (2001) 1.25
Effect of UV-B exposure on the concentration of vitamin D2 in sliced shiitake mushroom (Lentinus edodes) and white button mushroom (Agaricus bisporus). J Agric Food Chem (2008) 1.25
Gallbladder perforation: comparison of US findings with CT. Abdom Imaging (1994) 1.25
The extent of genetic variation in the CCR5 gene. Nat Genet (1997) 1.24
A new family of 10 murine ovalbumin serpins includes two homologs of proteinase inhibitor 8 and two homologs of the granzyme B inhibitor (proteinase inhibitor 9). J Biol Chem (1997) 1.23
Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype. J Biol Chem (1988) 1.22
Automated DNA sequencing methods involving polymerase chain reaction. Clin Chem (1989) 1.22
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet (1996) 1.22
The balance of power in RNA trafficking. Curr Opin Neurobiol (2001) 1.21
Elective stenting for symptomatic middle cerebral artery stenosis presenting as transient ischaemic deficits or stroke attacks: short term arteriographical and clinical outcome. J Neurol Neurosurg Psychiatry (2004) 1.21
Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations. J Med Genet (2005) 1.19
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology (2005) 1.18
Facial nerve schwannomas: CT and MR findings. Yonsei Med J (1998) 1.17