Genetics: The diagnostic frontier in pediatric urology

Martin Kaefer; Darius Bagli; Nicolas Kalfa; Goedele M A Beckers; Luke Harper; Katherine Herbst; Anka Nieuwhof-Leppink; Magdalena Fossum; ESPU research committee

doi:10.1016/j.jpurol.2021.09.011

Genetics: The diagnostic frontier in pediatric urology

Martin Kaefer, Darius Bagli, Nicolas Kalfa, Goedele M A Beckers, Luke Harper, Katherine Herbst, Anka Nieuwhof-Leppink, Magdalena Fossum, ESPU research committee

1 Citation (Scopus)

Abstract

In the course of human history few scientific breakthroughs can rival the importance of the discovery of DNA. Our ever increasing ability to unravel the secrets contained in this molecule allow new insight in to the etiology and eventual treatment of human conditions ranging from congenital structural disorders to cancer. It is the focus of this article to touch upon sequencing technologies and their potential to provide information that can revolutionize healthcare.

Original language	English
Journal	Journal of Pediatric Urology
Volume	17
Issue number	6
Pages (from-to)	803-804
Number of pages	2
ISSN	1477-5131
DOIs	https://doi.org/10.1016/j.jpurol.2021.09.011
Publication status	Published - Dec 2021

Keywords

Child
Exome
Humans
Urology
Whole exome sequencing
Whole genome sequencing
Epigenetics
Genetics

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10.1016/j.jpurol.2021.09.011

Cite this

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author = "Martin Kaefer and Darius Bagli and Nicolas Kalfa and Beckers, \{Goedele M A\} and Luke Harper and Katherine Herbst and Anka Nieuwhof-Leppink and Magdalena Fossum and \{ESPU research committee\}",

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AU - Kaefer, Martin

AU - Bagli, Darius

AU - Kalfa, Nicolas

AU - Beckers, Goedele M A

AU - Harper, Luke

AU - Herbst, Katherine

AU - Nieuwhof-Leppink, Anka

AU - Fossum, Magdalena

AU - ESPU research committee

PY - 2021/12

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AB - In the course of human history few scientific breakthroughs can rival the importance of the discovery of DNA. Our ever increasing ability to unravel the secrets contained in this molecule allow new insight in to the etiology and eventual treatment of human conditions ranging from congenital structural disorders to cancer. It is the focus of this article to touch upon sequencing technologies and their potential to provide information that can revolutionize healthcare.

KW - Child

KW - Exome

KW - Humans

KW - Urology

KW - Whole exome sequencing

KW - Whole genome sequencing

KW - Epigenetics

KW - Genetics

UR - https://www.scopus.com/pages/publications/85116333411

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DO - 10.1016/j.jpurol.2021.09.011

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SP - 803

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JO - Journal of Pediatric Urology

JF - Journal of Pediatric Urology

IS - 6

ER -

Genetics: The diagnostic frontier in pediatric urology

Abstract

Keywords

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