(Q34371843)

1 August 2017

0 references

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies (English)

1 reference

1 August 2017

0 references

1 reference

Stephen F Kingsmore

7

0 references

author name string

Darrell L Dinwiddie

1

1 reference

1 August 2017

Sarah E Soden

2

1 reference

1 August 2017

Carol J Saunders

3

1 reference

1 August 2017

Neil A Miller

4

1 reference

1 August 2017

Emily G Farrow

5

1 reference

1 August 2017

Laurie D Smith

6

1 reference

1 August 2017

language of work or name

English

0 references

publication date

17 September 2013

1 reference

1 August 2017

1 reference

1 August 2017

6

1 reference

1 August 2017

1

0 references

page(s)

32

1 reference

https://scigraph.springernature.com/pub.10.1186/1755-8794-6-32

1 August 2017

0 references

cites work

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851682

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851682

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851682

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851682

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851682

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851682

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851682

Patterns and rates of exonic de novo mutations in autism spectrum disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851682

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851682

De novo mutation in schizophrenia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851682

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851682

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851682

Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851682

Charting a course for genomic medicine from base pairs to bedside

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851682

A method and server for predicting damaging missense mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851682

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851682

SIFT: Predicting amino acid changes that affect protein function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851682

dbSNP: the NCBI database of genetic variation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851682

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1755-8794-6-32

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1755-8794-6-32

Concurrent and predictive validity of the cognitive adaptive test/clinical linguistic and auditory milestone scale (CAT/CLAMS) and the Mental Developmental Index of the Bayley Scales of Infant Development.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1755-8794-6-32

Phenocopy versus genocopy

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24044690

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The NIH Undiagnosed Diseases Program: lessons learned

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24044690

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1755-8794-6-32

1 reference

Dimensions Publication ID

1 August 2017

0 references

1 reference

1 August 2017

1 reference