(Q42147396)

17 October 2017

Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio (English)

1 reference

17 October 2017

1 reference

whole genome sequencing

1 reference

10

John E Niederhuber

0 references

author name string

Dale L Bodian

1

1 reference

17 October 2017

Benjamin D Solomon

2

1 reference

17 October 2017

Alina Khromykh

3

1 reference

17 October 2017

Dzung C Thach

4

1 reference

17 October 2017

Ramaswamy K Iyer

5

1 reference

17 October 2017

Kathleen Link

6

1 reference

17 October 2017

Robin L Baker

7

1 reference

17 October 2017

Rajiv Baveja

8

1 reference

17 October 2017

Joseph G Vockley

9

1 reference

17 October 2017

John E Niederhuber

10

1 reference

17 October 2017

26 August 2014

1 reference

Molecular genetics & genomic medicine

17 October 2017

1 reference

17 October 2017

2

1 reference

17 October 2017

6

1 reference

17 October 2017

530-538

1 reference

Exome-based mapping and variant prioritization for inherited Mendelian disorders

17 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

ClinVar: public archive of relationships among sequence variation and human phenotype

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

Genomic imprinting and parent-of-origin effects on complex traits.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

GEMINI: integrative exploration of genetic variation and genome annotations

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

Central precocious puberty caused by mutations in the imprinted gene MKRN3.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

The UCSC Genome Browser database: extensions and updates 2013.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

An integrated map of genetic variation from 1,092 human genomes

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

PriVar: a toolkit for prioritizing SNVs and indels from next-generation sequencing data

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

The Sequence Alignment/Map format and SAMtools

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

Fast and accurate short read alignment with Burrows-Wheeler transform

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

Initial sequencing and analysis of the human genome

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

The imprinted gene and parent-of-origin effect database

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

Analysis of CDKN1C in Beckwith Wiedemann syndrome.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303223

Genomics in clinical practice: lessons from the front lines

17 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25614875

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/MGG3.107

1 reference

17 October 2017

1 reference

17 October 2017

PubMed publication ID

25614875

1 reference