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

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.

2011

Integrative Genomic Identification of Genes on 8p Associatedwith Hepatocellular Carcinoma Progression and Patient Survival

Stephanie Roessler, et al.

Gastroenterology.

Somatic mutations in oncogenes or tumor suppressor genes (TSGs) of one single cell are believed to cause the development of solid tumors.

2011

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

Gene S. Fisch, et al.

Behavior Genetics.

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

2011

A copy number variation morbidity map ofdevelopmental delay

Gregory M Cooper, et al.

Nature Genetics

Large CNVs are enriched in the aggregate among severe pediatric disease, including neurological and congenital birth defects1,2 as well as neuropsychiatric diseases3–5

2010

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

Shihui Yu, et al.

European Journal of Human Genetics

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

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.