(Q33649327)

28 July 2017

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound (English)

1 reference

28 July 2017

Sarah C Hillman

2

0 references

Keren J Carss

object named as

Keren J Carss

1

0 references

Eamonn R Maher

5

object named as

Eamonn R Maher

1 reference

28 July 2017

Vijaya Parthiban

3

1 reference

28 July 2017

Dominic J McMullan

4

1 reference

28 July 2017

Mark D Kilby

6

1 reference

28 July 2017

Matthew E Hurles

7

1 reference

28 July 2017

29 January 2014

1 reference

28 July 2017

Human Molecular Genetics

1 reference

28 July 2017

23

1 reference

28 July 2017

12

1 reference

28 July 2017

3269-3277

1 reference

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

DeNovoGear: de novo indel and point mutation discovery and phasing.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

PRKDC mutations in a SCID patient with profound neurological abnormalities

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

De novo mutations in histone-modifying genes in congenital heart disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

Clinical diagnosis by whole-genome sequencing of a prenatal sample

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

Chromosomal microarray versus karyotyping for prenatal diagnosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

fras1 shapes endodermal pouch 1 and stabilizes zebrafish pharyngeal skeletal development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

Prenatal detection of aneuploidy and imbalanced chromosomal arrangements by massively parallel sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

The human phenotype ontology.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

Nervous-tissue-specific elimination of microtubule-actin crosslinking factor 1a results in multiple developmental defects in the mouse brain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

Rere controls retinoic acid signalling and somite bilateral symmetry

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

The polarity protein Pard3 is required for centrosome positioning during neurulation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

Cardiac and vascular functions of the zebrafish orthologues of the type I neurofibromatosis gene NFI.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

PAR3 is essential for cyst-mediated epicardial development by establishing apical cortical domains.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

DLC-1, a Rho GTPase-activating protein with tumor suppressor function, is essential for embryonic development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

Multiple splice variants of Par3 and of a novel related gene, Par3L, produce proteins with different binding properties

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

Cardiac malformation in two infants with hypochondrogenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

The phenotypic spectrum of COL2A1 mutations

21 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU038

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU038

REREa/Atrophin-2 interacts with histone deacetylase and Fgf8 signaling to regulate multiple processes of zebrafish development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU038

Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU038

Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU038

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU038

A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030780

30 October 2018

Identifiers

DOI

10.1093/HMG/DDU038

1 reference

28 July 2017

1 reference

28 July 2017

1 reference