Missing genetic risk in neural tube defects: Can exome sequencing yield an insight?-Reference-Cited by-同舟云学术

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Missing genetic risk in neural tube defects: Can exome sequencing yield an insight?

Published:2014-07-21 Issue:8 Volume:100 Page:642-646
ISSN:1542-0752
Container-title:Birth Defects Research Part A: Clinical and Molecular Teratology
language:en
Short-container-title:Birth Defects Research Part A: Clinical and Molecular Teratology

Author:

Krupp Deidre R.¹,Soldano Karen L.²,Garrett Melanie E.²,Cope Heidi²,Ashley-Koch Allison E.²,Gregory Simon G.¹

Affiliation:

1. Duke Molecular Physiology Institute; DUMC; 300 North Duke Street Durham NC 27701

2. Duke Center for Human Disease Modeling; Duke University; 300 North Duke Street Durham NC 27701

Funder

David H Murdock Research Institute

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/bdra.23276/fullpdf

Reference48 articles.

1. Predicting functional effect of human missense mutations using PolyPhen-2;Adzhubei;Curr Protoc Hum Genet Chapter,2013

2. Exome analysis of a family with pleiotropic congenital heart disease;Arrington;Circ Cardiovasc Genet,2012

3. Accurate whole human genome sequencing using reversible terminator chemistry;Bentley;Nature,2008

4. Next-generation sequencing in the clinic: are we ready?;Biesecker;Nat Rev Genet,2012

5. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations;Bilguvar;Nature,2010

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1. Neural Tube Defects and Epigenetics: Role of Histone Post-Translational Histone Modifications;Epigenomics;2024-02-27

2. Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities;Genetics in Medicine;2023-10

3. Eph and Ephrin Variants in Malaysian Neural Tube Defect Families;Genes;2022-05-26

4. Cerebral Abnormalities in Spina Bifida: A Neuropathological Study;Pediatric and Developmental Pathology;2021-10-06

5. MYBPC3 Haplotype Linked to Hypertrophic Cardiomyopathy in Rhesus Macaques (Macaca mulatta);Comparative Medicine;2020-10-01

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