Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients-Reference-Cited by-同舟云学术

Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients

Published:2021-09-29 Issue:11 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Wang Lei¹^ORCID,Liu Pengfei¹²,Bi Weimin¹²,Sim Teresa³,Wang Xia⁴,Walkiewicz Magdalene⁵,Leduc Magalie Sophie⁶,Meng Linyan¹²,Xia Fan¹²,Eng Christine M.¹²,Yang Yaping⁴,Yuan Bo¹²^ORCID,Dai Hongzheng¹²

Affiliation:

1. Baylor Genetics Laboratory Houston Texas USA

2. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

3. GeneDx Gaithersburg Maryland USA

4. AiLife Diagnostics Houston Texas USA

5. National Institute of Allergy and Infectious Diseases Bethesda Maryland USA

6. Genomics PLC Cambridge Massachusetts USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1792

Reference18 articles.

1. Obesity in pycnodysostosis due to UPD1: Possible effect of an imprinted gene on chromosome 1

2. Phenotypic heterogeneity of ZMPSTE24 deficiency

3. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

4. MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 2 AND CONFINED PLACENTAL MOSAICISM FOR TRISOMY 2 IN A FETUS WITH INTRAUTERINE GROWTH RESTRICTION, HYPOSPADIAS, AND OLIGOHYDRAMNIOS

5. Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues

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