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.

Latest Publication

2021

Harnessing Rare Variants in Neuropsychiatric and Neurodevelopment Disorders

Jennifer Cable, et al.

Annals of the New York Academy of Sciences.

Neurodevelopmental neuropsychiatric disorders, such as autism spectrum disorder and schizophrenia, have strong genetic risk components

2021

The Structure, Function and Evolution of a Complete Human Chromosome 8

Glennis A, et al.

Nature

The Structure, Function and Evolution of a Complete Human Chromosome 8 Nature, April 9, 2021 Project 8p Foundation is proud…

2019

8p Inverted Duplication & Deletion – rarechromo.org

García-Santiago, et al.

Unique

Inverted duplication and deletion of 8p, known as inv dup del 8p, is a rare genetic condition that is estimated to occur once in every 10,000-30,000 births.

2019

Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity

Jeroen Knijnenburg, et al.

European Journal of Medical Genetics

Using SNP array and FISH analysis, a patient with moderate intellectual disability and obesity was found to harbour an atypical 1.6 Mb inverted duplication on 8p23.1

2014

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

Fe Amalia Garcı´a-Santiago, et al.

AMERICAN JOURNAL OF MEDICAL GENETICS

Interstitial inverted duplication 8p associated with 8pter deletion (invdupdel[8p]) is a complex and relatively uncommon chromosomal rearrangement

2013

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

Adriana Sireteanu, et al.

Medical-Surgical Journal of the Society of Physicians and Naturalists of Iași.

Inverted duplication deletion of 8p [inv dup del(8p)] is a recurrent chromosomal rearrangement first described in 1976 by Weleber, et al.

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.

Chromosome 8P

For Families

Resources

Join Cause

About Us

Research