Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery (Q38125619)

29 August 2017

Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery (English)

1 reference

29 August 2017

3

1 reference

29 August 2017

S Lazarus

1

1 reference

29 August 2017

A Zankl

series ordinal

2

1 reference

29 August 2017

language of work or name

English

0 references

publication date

1 August 2013

1 reference

Osteoporosis International

29 August 2017

1 reference

29 August 2017

25

1 reference

29 August 2017

407-422

1 reference

29 August 2017

2

1 reference

https://scigraph.springernature.com/pub.10.1007/s00198-013-2443-1

29 August 2017

0 references

cites work

Mapping genes for osteoporosis--old dogs and new tricks

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Clinical review: Genome-wide association studies of skeletal phenotypes: what we have learned and where we are headed

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Pathophysiology of atypical femoral fractures and osteonecrosis of the jaw.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

The drug development crisis: efficiency and safety

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

The gene for pycnodysostosis maps to human chromosome 1cen-q21

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Cathepsin K: isolation and characterization of the murine cDNA and genomic sequence, the homologue of the human pycnodysostosis gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Single-dose, placebo-controlled, randomized study of AMG 785, a sclerostin monoclonal antibody

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Nosology and classification of genetic skeletal disorders: 2010 revision.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

DNA sequencing with chain-terminating inhibitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Nucleotide sequence of bacteriophage φX174 DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Next-generation DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Finishing the euchromatic sequence of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

A physical map of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Accurate multiplex polony sequencing of an evolved bacterial genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Next-generation DNA sequencing methods

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Analysis of the prostate cancer cell line LNCaP transcriptome using a sequencing-by-synthesis approach.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

The impact of next-generation sequencing on genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Solid-State and Biological Nanopore for Real-Time Sensing of Single Chemical and Sequencing of DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

The birth of the Epitranscriptome: deciphering the function of RNA modifications

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

The methylomes of six bacteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Sense from sequence reads: methods for alignment and assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

SeqMap: mapping massive amount of oligonucleotides to the genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Genome-wide in situ exon capture for selective resequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Microarray-based genomic selection for high-throughput resequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Accurate whole human genome sequencing using reversible terminator chemistry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Next-generation human genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Unlocking Mendelian disease using exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Mutations in WNT1 cause different forms of bone fragility

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Mutations in SERPINF1 cause osteogenesis imperfecta type VI

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

PAPSS2 mutations cause autosomal recessive brachyolmia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Odanacatib in the treatment of postmenopausal women with low bone mineral density: Three-year continued therapy and resolution of effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00198-013-2443-1

Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype

21 January 2018

1 reference

12 December 2020

Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype

1 reference

12 December 2020

Next-generation sequencing for disorders of low and high bone mineral density

1 reference

12 December 2020

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

1 reference

12 December 2020

Odanacatib in the treatment of postmenopausal women with low bone mineral density: five years of continued therapy in a phase 2 study

1 reference

12 December 2020

A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta

1 reference

12 December 2020

Mutations in WNT1 are a cause of osteogenesis imperfecta

1 reference

12 December 2020

Genome sequencing in microfabricated high-density picolitre reactors

1 reference

12 December 2020

Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation

1 reference

12 December 2020

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

1 reference

12 December 2020

10.1007/S00198-013-2443-1

Identifiers

DOI

1 reference

Dimensions Publication ID

29 August 2017

0 references

1 reference