Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders (Q38029472)

27 August 2017

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders (English)

1 reference

27 August 2017

4

Hirofumi Nakaoka

1 reference

27 August 2017

Bahareh Rabbani

1

1 reference

27 August 2017

Nejat Mahdieh

series ordinal

2

1 reference

27 August 2017

Kazuyoshi Hosomichi

series ordinal

3

1 reference

27 August 2017

Ituro Inoue

series ordinal

5

1 reference

27 August 2017

26 July 2012

1 reference

Journal of Human Genetics

27 August 2017

1 reference

27 August 2017

57

1 reference

27 August 2017

621-632

1 reference

27 August 2017

10

1 reference

https://scigraph.springernature.com/pub.10.1038/jhg.2012.91

27 August 2017

0 references

cites work

Charting a course for genomic medicine from base pairs to bedside

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

On the allelic spectrum of human disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Initial impact of the sequencing of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Are rare variants responsible for susceptibility to complex diseases?

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mendelian Inheritance in Man and its online version, OMIM

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mendelian disorders deserve more attention

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Lessons from studying monogenic disease for common disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

The Nucleotide Sequence of a Nucleic Acid

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

A new method for sequencing DNA

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing identifies the cause of a mendelian disorder

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

A polymorphic DNA marker genetically linked to Huntington's disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

A de novo paradigm for mental retardation.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

What can exome sequencing do for you?

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Genome-wide in situ exon capture for selective resequencing

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

The Sequence Alignment/Map format and SAMtools

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Integrative genomics viewer

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

A method and server for predicting damaging missense mutations

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

A probabilistic disease-gene finder for personal genomes.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Understanding the contribution of synonymous mutations to human disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing as a tool for Mendelian disease gene discovery

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

dbSNP: the NCBI database of genetic variation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

A map of human genome variation from population-scale sequencing

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Integrating common and rare genetic variation in diverse human populations

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

The characterization of twenty sequenced human genomes

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Strategies for exome and genome sequence data analysis in disease-gene discovery projects

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

RAD51 haploinsufficiency causes congenital mirror movements in humans

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Disease gene identification strategies for exome sequencing

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Rate, molecular spectrum, and consequences of human mutation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Unlocking Mendelian disease using exome sequencing

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

De Novo Gene Disruptions in Children on the Autistic Spectrum

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Challenges of sequencing human genomes

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Real-time DNA sequencing from single polymerase molecules

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

The potential and challenges of nanopore sequencing

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Fluorescence detection in automated DNA sequence analysis.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

A first-generation physical map of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Whole-genome random sequencing and assembly of Haemophilus influenzae Rd

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

The DNA sequence of human chromosome 22

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

The genome sequence of Drosophila melanogaster

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

On the sequencing and assembly of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

The Sequence of the Human Genome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Initial sequencing and analysis of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Genome sequencing in microfabricated high-density picolitre reactors

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

The complete genome of an individual by massively parallel DNA sequencing

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Targeted capture and massively parallel sequencing of 12 human exomes

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Whole-exome-sequencing-based discovery of human FADD deficiency

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Recessive LAMC3 mutations cause malformations of occipital cortical development

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

VPS35 mutations in Parkinson disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing identifies ZNF644 mutations in high myopia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing identifies MPL as a causative gene in familial aplastic anemia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations in EZH2 cause Weaver syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

A mutation in the thyroid hormone receptor alpha gene.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing identifies PDE4D mutations in acrodysostosis

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Familial diarrhea syndrome caused by an activating GUCY2C mutation.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.91

7 January 2021

Identifiers

DOI

10.1038/JHG.2012.91

1 reference

Dimensions Publication ID

27 August 2017

0 references

1 reference