Publication

Scientific Publication

The scientific or research articles below are from publications or journals that are relevant for Chromosome 8p disorders. If you have any articles to share with us that is relevant to Project 8p’s mission, please contact us with the article.

Tips For Reading Scientific Papers

Reading a scientific paper is a completely different process than reading about science in a blog or news article. A single paper may take you a long time to read at first. Be patient with yourself. You may need to read the sections out of order, jot down notes, read it multiple times, skim or even skip certain parts, and pause to look up terms in our glossary. As you gain experience, you will learn what approach works for you.

Most research papers will be divided into the following sections:

Abstract

Briefly summarizes the research including why it is important, what was done, and what was found.

Introduction

Contains all the background information needed to understand the broader context of the research.

Method

Clearly outlines how the research was carried out.

Result

Describes what was found in detail, sometimes using tables and figures (graphs, illustrations, or diagrams).

Discussion

Makes connections to other research and interprets the meaning of the results.

Conclusion

Reinforces major takeaways and states their significance beyond the paper.

Not all papers are freely available; you may only be able to see the abstract for some. If you want to read the full text of a restricted paper, Open Access Button is a tool that takes you to a free copy of the research article or helps you ask the author to share the article with you. You can also email the author directly; many are receptive to these requests.

Latest Publication

2019

8p Inverted Duplication & Deletion – rarechromo.org

Abstract Inverted duplication and deletion of 8p, known as inv dup del 8p, is a rare genetic condition that is…

2019

Web of Science Search Query

Search results (48) from Web of Science query. READ FULL TEXT

2014

Analysis of Invdupdel(8p) Rearrangement: Clinical, Cytogenetic and Molecular Characterization

Abstract Inverted duplication 8p associated with deletion of the short arms of chromosome 8 (invdupdel[8p])is a relatively uncommon complex chromosomal…

2013

Inverted Duplication Deletion Of 8p: Characterization By Standard Cytogenetic and SNP Array Analyses

Abstract Inverted 8p duplication deletions are recurrent chromosomal rearrangements that most often arise through non-allelic homologous recombination (NAHR) during maternal…

2011

Genotype–Phenotype Association Studies of Chromosome 8p Inverted Duplication Deletion Syndrome

Abstract Individuals diagnosed with chromosome 8p inverted duplication deletion (invdupdel(8p)) manifest a wide range of clinical features and cognitive impairment.…

2010

Genomic profile of copy number variants on the short arm of human chromosome 8

Abstract We evaluated 966 consecutive pediatric patients with various developmental disorders by high-resolution microarray-based comparative genomic hybridization and found 10…

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