(Q47863563)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

title

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Garan Jones

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Karen Stals

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Hana Lango Allen

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Sian Ellard

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

28

Ruth Newbury-Ecob

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

36

Peter D Turnpenny

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

7

Carolyn Tysoe

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

26

Emma Kivuva

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

9

Adam C Gunning

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

author name string

Matthew Wakeling

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Júlia Baptista

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Andrew Parrish

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Julia Rankin

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Lisa Bradley

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Angela F Brady

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Helena Carley

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Jenny Carmichael

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Bruce Castle

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Deirdre Cilliers

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Helen Cox

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Charu Deshpande

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Abhijit Dixit

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Jacqueline Eason

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Frances Elmslie

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Andrew E Fry

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Alan Fryer

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Muriel Holder

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Tessa Homfray

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Victoria McKay

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Michael Parker

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Ravi Savarirayan

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Claire Searle

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Nora Shannon

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Deborah Shears

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Sarah Smithson

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Ellen Thomas

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Vinod Varghese

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Pradeep Vasudevan

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Emma Wakeling

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Emma L Baple

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

publication date

3 December 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

volume

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

page(s)

33-43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

8 April 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Molecular findings among patients referred for clinical whole-exome sequencing

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Prenatal diagnosis of fetal peters' plus syndrome: a case report

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

ASPM is a major determinant of cerebral cortical size

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Large-scale discovery of novel genetic causes of developmental disorders

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

The Human Gene Mutation Database: 2008 update

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Molecular autopsy in maternal-fetal medicine

14 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FPD.5175

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FPD.5175

Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Severe Cenani-Lenz syndrome caused by loss of LRP4 function

1 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5836855

Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele

1 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29096039

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/PD.5175

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29096039%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

1 reference