(Q37833576)

24 August 2017

1 reference

title

Novel genomic techniques open new avenues in the analysis of monogenic disorders (English)

1 reference

24 August 2017

1

Gregor Kuhlenbäumer

0 references

author name string

Gregor Kuhlenbäumer

series ordinal

1

1 reference

PubMed ID

21280146

24 August 2017

Julia Hullmann

series ordinal

2

1 reference

PubMed ID

21280146

24 August 2017

Silke Appenzeller

series ordinal

3

1 reference

24 August 2017

1 February 2011

1 reference

24 August 2017

1 reference

24 August 2017

32

1 reference

24 August 2017

2

1 reference

24 August 2017

144-151

1 reference

A method and server for predicting damaging missense mutations

24 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Exome sequencing makes medical genomics a reality

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Molecular basis of a linkage peak: exome sequencing and family-based analysis identify a rare genetic variant in the ADIPOQ gene in the IRAS Family Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Genetics of essential tremor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Introduction to microarray technology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Genetics of Alzheimer's disease: a centennial review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Exome sequencing of a multigenerational human pedigree

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Clinical features and molecular genetics of hereditary peripheral neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Target-enrichment strategies for next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

The impact of next-generation sequencing technology on genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Bioinformatics approaches and resources for single nucleotide polymorphism functional analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Predicting the effects of amino acid substitutions on protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Genetic variation in an individual human exome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Lessons from studying monogenic disease for common disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Human non-synonymous SNPs: server and survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Improved splice site detection in Genie

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Enabling technologies of genomic-scale sequence enrichment for targeted high-throughput sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Massively parallel sequencing: the next big thing in genetic medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Methods for genomic partitioning

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

LRRK2G2019S as a Cause of Parkinson's Disease in North African Arabs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

Genomics shifts focus to rare diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

inferred from DOI database lookup

7 January 2021

based on heuristic

Positional cloning moves from perditional to traditional

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

inferred from DOI database lookup

7 January 2021

based on heuristic

Genetics of restless legs syndrome: A burning urge to move

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21400

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.21400

1 reference

24 August 2017

1 reference

PubMed ID

21280146