Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly-Reference-Cited by-同舟云学术

Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly

Published:2021-12-16 Issue:2 Volume:43 Page:189-199
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Melas Marilena¹^ORCID,Kautto Esko A.¹^ORCID,Franklin Samuel J.¹^ORCID,Mori Mari²³^ORCID,McBride Kim L.²³⁴^ORCID,Mosher Theresa Mihalic¹²³^ORCID,Pfau Ruthann B.¹³⁵^ORCID,Hernandez‐Gonzalez Maria Elena¹^ORCID,McGrath Sean D.¹^ORCID,Magrini Vincent J.¹³^ORCID,White Peter¹³^ORCID,Samora Julie Balch⁶^ORCID,Koboldt Daniel C.¹³^ORCID,Wilson Richard K.¹³^ORCID

Affiliation:

1. The Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA

2. Division of Genetic and Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA

3. Department of Pediatrics The Ohio State University Columbus Ohio USA

4. Center for Cardiovascular Research The Research Institute at Nationwide Children's Hospital Columbus Ohio USA

5. Department of Pathology The Ohio State University Columbus Ohio USA

6. Department of Orthopedic Surgery Nationwide Children's Hospital Columbus Ohio USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24304

Reference59 articles.

1. Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families

2. A molecular pathogenesis for transcription factor associated poly-alanine tract expansions

3. Prenatal exposure to environmental factors and congenital limb defects

4. Opportunities and challenges in long-read sequencing data analysis

5. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

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