Paper Details

Paper Title

Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.

Paper Journal Title

Hum Mutat

Paper Citation Count

Paper Publication Year

2022

Bio Mention

AHDC1, AHDC1 deletion, AHDC1 gene, AT-Hook DNA binding motif containing 1, AT-Hook DNA binding motif containing 1 (AHDC1) gene, DD, Development Delay, FAM76A, Feline, ID, IFI6, PPP1R8, RNA, RPA2, SMPDL3B, STX12, THEMIS2, XGS, Xia-Gibbs syndrome, chr1p36, contiguous, deleted genes, first intron, hypotonia, intellectual disability, mRNA, mendelian disorder, neurodevelopmental disorders, whole blood

Mesh Descriptor

Author Name	Affiliation
Jianhong Hu	Baylor College of Medicine
Shalini N Jhangiani	Baylor College of Medicine
Viktoriya Korchina	Baylor College of Medicine
Hua Shen	Baylor College of Medicine
Donna M Muzny	Baylor College of Medicine
Donna M Muzny	Baylor College of Medicine
Donna M Muzny	Baylor College of Medicine
Donna M Muzny	Baylor College of Medicine
Harshavardhan Doddapaneni	Baylor College of Medicine
Harshavardhan Doddapaneni	Baylor College of Medicine
Jennifer E Posey	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine
Aniko Sabo	Baylor College of Medicine
Fritz J Sedlazeck	Baylor College of Medicine
Fritz J Sedlazeck	Baylor College of Medicine
Fritz J Sedlazeck	Rice University
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine

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