(Q41392829)

30 September 2017

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families (English)

1 reference

30 September 2017

16

Fowzan S Alkuraya

1 reference

30 September 2017

Hanan E Shamseldin

1

1 reference

30 September 2017

Maha Tulbah

2

1 reference

30 September 2017

Wesam Kurdi

3

1 reference

30 September 2017

Maha Nemer

4

1 reference

30 September 2017

Nada Alsahan

5

1 reference

30 September 2017

Elham Al Mardawi

6

1 reference

30 September 2017

Ola Khalifa

7

1 reference

30 September 2017

Amal Hashem

8

1 reference

30 September 2017

Ahmed Kurdi

9

1 reference

30 September 2017

Zainab Babay

10

1 reference

30 September 2017

Dalal K Bubshait

11

1 reference

30 September 2017

Niema Ibrahim

12

1 reference

30 September 2017

Firdous Abdulwahab

13

1 reference

30 September 2017

Zuhair Rahbeeni

14

1 reference

30 September 2017

Mais Hashem

15

1 reference

30 September 2017

3 June 2015

1 reference

30 September 2017

1 reference

30 September 2017

16

1 reference

30 September 2017

116

1 reference

Creative Commons Attribution 4.0 International

30 September 2017

start time

3 June 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s13059-015-0681-6

0 references

cites work

Human knockout research: new horizons and opportunities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491988

Genetics and genomic medicine in Saudi Arabia

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491988

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491988

Discovery of rare homozygous mutations from studies of consanguineous pedigrees

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491988

Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491988

Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491988

Human UBN1 is an ortholog of yeast Hpc2p and has an essential role in the HIRA/ASF1a chromatin-remodeling pathway in senescent cells

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491988

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491988

Genetic marking of hematopoietic stem and endothelial cells: identification of the Tmtsp gene encoding a novel cell surface protein with the thrombospondin-1 domain

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491988

O-GlcNAc: a regulatory post-translational modification.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491988

Functional profiling of the Saccharomyces cerevisiae genome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491988

Targeted mutagenesis of the Hira gene results in gastrulation defects and patterning abnormalities of mesoendodermal derivatives prior to early embryonic lethality

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491988

Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491988

The PMT gene family: protein O-glycosylation in Saccharomyces cerevisiae is vital

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491988

PIG-C, one of the three human genes involved in the first step of glycosylphosphatidylinositol biosynthesis is a homologue of Saccharomyces cerevisiae GPI2

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491988

Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491988

Temperature-sensitive yeast GPI anchoring mutants gpi2 and gpi3 are defective in the synthesis of N-acetylglucosaminyl phosphatidylinositol. Cloning of the GPI2 gene.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491988

Identification of an ubinuclein 1 region required for stability and function of the human HIRA/UBN1/CABIN1/ASF1a histone H3.3 chaperone complex

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491988

Conditional expression of mutant M-line titins results in cardiomyopathy with altered sarcomere structure.

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491988

Etiology of nonimmune hydrops fetalis: a systematic review

19 August 2018

1 reference

12 December 2020

Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy

1 reference

12 December 2020

Weakness of a giant: mutations of the sarcomeric protein titin

1 reference

12 December 2020

Congenital rapidly fatal form of nemaline myopathy with fetal hydrops and arthrogryposis. A case report and review

1 reference

12 December 2020

Galactosialidosis presenting as nonimmune fetal hydrops: a case report

1 reference

12 December 2020

10.1186/S13059-015-0681-6

Identifiers

DOI

1 reference

Dimensions Publication ID

30 September 2017

0 references

1 reference

30 September 2017

1 reference