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AHDC1 gene

Known as: DJ159A19.3, AT-HOOK DNA-BINDING MOTIF-CONTAINING PROTEIN 1, AHDC1 
 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Exome Pool-Seq in neurodevelopmental disorders
High throughput sequencing has greatly advanced disease gene identification, especially in heterogeneous entities. Despite… Expand
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2017
2017
Biological significance of genome‐wide DNA methylation profiles in keloids
To obtain biological insight into keloid pathogenesis and treatment using pathway analysis of genome‐wide differentially… Expand
2017
2017
Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1
Hae-Yeon Park, M.D., Myungshin Kim, M.D., Woori Jang, M.D., and Dae-Hyun Jang, M.D. Department of Rehabilitation Medicine… Expand
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Highly Cited
2016
Highly Cited
2016
Novel genetic causes for cerebral visual impairment
Cerebral visual impairment (CVI) is a major cause of low vision in children due to impairment in projection and/or interpretation… Expand
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Highly Cited
2015
Highly Cited
2015
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus
Cardiac left ventricular outflow tract (LVOT) defects represent a common but heterogeneous subset of congenital heart disease for… Expand
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2015
2015
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay
Whole-exome sequencing (WES) represents a significant breakthrough in clinical genetics, and identifies a genetic etiology in up… Expand
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2014
2014
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
Clinical whole-exome sequencing (WES) for identification of mutations leading to Mendelian disease has been offered to the… Expand
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