(Q33649327)

28 July 2017

title

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

publication date

29 January 2014

1 reference

28 July 2017

published in

Human Molecular Genetics

1 reference

28 July 2017

volume

23

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28 July 2017

issue

12

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28 July 2017

page(s)

3269-3277

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

28 July 2017

cites work

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21 June 2018

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

21 June 2018

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

21 June 2018

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fras1 shapes endodermal pouch 1 and stabilizes zebrafish pharyngeal skeletal development

21 June 2018

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21 June 2018

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

21 June 2018

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21 June 2018

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21 June 2018

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Rere controls retinoic acid signalling and somite bilateral symmetry

21 June 2018

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The polarity protein Pard3 is required for centrosome positioning during neurulation

21 June 2018

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

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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

21 June 2018

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

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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Cardiac malformation in two infants with hypochondrogenesis

21 June 2018

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21 June 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

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

21 January 2018

1 reference

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30 October 2018

Identifiers

DOI

10.1093/HMG/DDU038

1 reference

28 July 2017

1 reference

28 July 2017

1 reference