Advance in Genomics of Rare Genetic Diseases-Reference-Cited by-同舟云学术

Advance in Genomics of Rare Genetic Diseases

Published:2023-09-25 Issue:10 Volume:13 Page:1441
ISSN:2218-273X
Container-title:Biomolecules
language:en
Short-container-title:Biomolecules

Author:

Sommariva Elena¹,Bellin Milena²³⁴,Di Resta Chiara⁵⁶^ORCID

Affiliation:

1. Unit of Vascular Biology and Regenerative Therapy, Centro Cardiologico Monzino IRCCS, 20138 Milan, Italy

2. Department of Biology, University of Padua, 35121 Padua, Italy

3. Veneto Institute of Molecular Medicine, 35129 Padua, Italy

4. Department of Anatomy and Embryology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands

5. Genomic Unit for the Diagnosis of Human Pathologies, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy

6. Faculty of Medicine, Vita-Salute San Raffaele University, 20132 Milan, Italy

Abstract

Recent technical breakthroughs in genotyping and bioinformatics techniques have greatly facilitated the translation of genomics into clinical care [...]

Publisher

MDPI AG

Subject

Molecular Biology,Biochemistry

Link

https://www.mdpi.com/2218-273X/13/10/1441/pdf

Reference14 articles.

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2. Translating genes into health;Kricka;Nat. Genet.,2013

3. Zaghi, M., Banfi, F., Bellini, E., and Sessa, A. (2021). Rare Does Not Mean Worthless: How Rare Diseases Have Shaped Neurodevelopment Research in the NGS Era. Biomolecules, 11.

4. Kõks, S. (2023). Genomics of Wolfram Syndrome 1 (WFS1). Biomolecules, 13.

5. Shen, X., Zhang, J., Zhan, F., Tian, W., Jiang, Q., Luan, X., Zhang, X., and Cao, L. (2022). Heterogeneous Clinical Phenotypes of dHMN Caused by Mutation in HSPB1 Gene: A Case Series. Biomolecules, 12.