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

2024

Chromosome 8p Syndromes Clinical Presentation and Management Guidelines

Rearrangements of the p-arm of Chromosome 8 can result in a spectrum of neurodevelopmental challenges, along with increased risk of epilepsy, structural brain .…

2022

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum Link to…

2022

Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact

Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact Commission on…

2021

Deciphering the Invdupdel (8p) Genotype-Phenotype Correlation: Our Opinion

Deciphering the Invdupdel (8p) Genotype-Phenotype Correlation: Our Opinion Brain Sciences, July 2020 Link to Online Article

2021

Clinical and Genomic Characterization of 8p Cytogenomic Disorders

Clinical and Genomic Characterization of 8p Cytogenomic Disorders a Project 8p Funded Study Link to Downloadable PDF

2021

Harnessing Rare Variants in Neuropsychiatric and Neurodevelopment Disorders

Annals of the New York Academy of Sciences Special Issue: Keystone Symposia Reports Harnessing Rare Variants in Neuropsychiatric and Neurodevelopment…

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