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Levy Library Blog

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08/26/2020
Angelyn Thornton
No Subjects

Each month Levy Library showcases the achievements of Mount Sinai faculty and researchers by highlighting an article and its altmetrics. Altmetrics are alternative measures of impact that capture non-traditional data like abstract views, article downloads, and social media activity. Our altmetrics data is provided by the PlumX platform

This month we highlight Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. This article was written in part by Alexander Kolevzon MDSilvia De Rubeis PhDMichael S Breen PhDDanielle Halpern PsyDBehrang Mahjani PhDSven S. Sandin PhD, and Avraham Reichenberg PhD.      

 


 

HIGHLIGHTS

  • 102 genes implicated in risk for autism spectrum disorder (ASD genes, FDR ≤ 0.1)

  • Most are expressed and enriched early in excitatory and inhibitory neuronal lineages

  • Most affect synapses or regulate other genes; how these roles dovetail is unknown

  • Some ASD genes alter early development broadly, others appear more specific to ASD

 

ABSTRACT

We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate of 0.1 or less. Of these genes, 49 show higher frequencies of disruptive de novo variants in individuals ascertained to have severe neurodevelopmental delay, whereas 53 show higher frequencies in individuals ascertained to have ASD; comparing ASD cases with mutations in these groups reveals phenotypic differences. Expressed early in brain development, most risk genes have roles in regulation of gene expression or neuronal communication (i.e., mutations effect neurodevelopmental and neurophysiological changes), and 13 fall within loci recurrently hit by copy number variants. In cells from the human cortex, expression of risk genes is enriched in excitatory and inhibitory neuronal lineages, consistent with multiple paths to an excitatory-inhibitory imbalance underlying ASD.

 

 

 

View the PlumX article profile 

08/19/2020
profile-icon Kerry McKee
No Subjects

Greetings and welcome new and returning Icahn School of Medicine Students! The Levy Library team is excited to be a part of your academic journey and we look forward to working with each of you in achieving your academic and research goals.

We wanted to dedicate a blog post to our library resources and services so if you are new here, you can read about what your library has to offer. If you are returning student we also wanted to share some changes to our services and visitation policies since we have adjusted our operations to endure that the health and safety of our patrons remains top priority!  So take a few minutes to learn a bit more about the Levy Library and what we have to offer you:

 

Ask a Librarian - Connect with a member of our library team via chat, phone, or email. You can also browse the available FAQs or submit your own. Librarians are available virtually Monday-Friday 9:00am-5:00pm.

Education & Research Services - Our ERS team offers research consultations, systematic review support, and educational sessions. Check out the calendar to reserve your spot for Introduction to Endnote or one of the many Drop-In Mini Sessions being offered this Fall. 

Writing Support Service - Improve your writing skills by scheduling a 1:1 consultation with an experienced science writer and editor. Consultations are virtual and complimentary!

 

Keeping You Safe - Our top priority is maintaining the safety of every person that enters The Levy Library. For the protection of our patrons and staff, all visitors are required to wear a mask, maintain social distancing, and practice proper hand hygiene. Study spaces and common areas are cleaned frequently throughout the day.

What’s Available - The library is currently in Phase 1 of reopening. Tables and carrels are available for single-person use with advanced reservation. Public computers and computer labs are closed at this time. The current hours of operation are as follows:

  • Monday – Friday: 9:00am- 4:00pm
  • Saturday and Sunday: CLOSED

 

 

Printing Services – While the printers in the Levy Library are closed, you still have access to the printers located in the Aron Hall residence lounge and ANBG 13th floor student lounge. A print account has been created for you and has been filled with $50 just in case you need to print something out. You can learn more about printing and get access to your My Print Center account by visiting libguides.mssm.edu/technology/howtoprint

Course Reserves – All required and suggested textbooks for your courses can be accessed through the Courses Reserves guide. We strive to make all your required textbooks available in an electronic format, but there are a few that are print only. Not to worry, we also keep a print copy of required textbooks in our reserve collection, so you can check out a copy for a couple of hours if you need to. 

Equipment – The checking out of equipment such as laptops, headphones, and chargers is on hold for now, but be sure to check back in with us.

 

Complete Anatomy - Complete Anatomy 20 is the world’s most advanced and best-selling 3D anatomy platform, with over 13,000 interactive structures and a living, beating, dissectible human heart in full 3D. This is available to download on your mobile device or desktop. You must use your Mount Sinai email address to set up your account.

Research Discovery Library Catalog – The Library’s catalog, Research Discovery is a simple, one-stop searching platform for journals, articles, books, e-books, digital media, and more in our library’s collection. We also have a curated Special Collection of books on trending and popular topics the you can check out.

Textbooks - Get the textbooks you need! Required and suggested reading for ISMMS Year 1 medical students can be found HERE. Some e-book platforms provide the ability to download PDFs and images of chapters. Just look for the PDF icon for that option. Looking for an annotation app for your notes? Check out our recommendations on our Mobile Apps Guide.

 

Of course if you have any questions, you can always contact us at refdesk@mssm.edu

Welcome and we look forward to helping you!

 

08/05/2020
Angelyn Thornton
No Subjects

 

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The Levy Library has so many educational opportunities coming your way this Fall! Here's a list of what you can expect for the rest of 2020...

 

SEPTEMBER

Conducting a Literature Review | Thursday 9/17/2020

This session will focus on the execution of a complete and organized literature search. We’ll discuss topic/question formation and learn how to develop a comprehensive search strategy. While the session will center on PubMed, the importance of other key databases, such as Scopus, will also be discussed.

 

Open Access & The Levy Library Press | Monday 9/21/2020 

Join us for a 30-minute Zoom session on Open Access and the Levy Library Press. In this session we will cover the Open Access (OA) publishing model and how it differs from the traditional model of scholarly publishing. We'll also discuss predatory OA publishers and how to spot and avoid them.

 

Making the Most of Your Scopus Author Profile | Tuesday 9/29/2020

Scopus is a multidisciplinary citation database that allows you to track, analyze, and visualize research. Your Scopus author profile includes a list of your citations, your co-authors, your h-index and other metrics that are often used to assess the impact of your work, so it’s important to keep it up to date and accurate. This session helps participants better understand their author profile and how to use it to grow your network.

 

OCTOBER

 

Levy Library Research Discovery 101 | Thursday 10/5/2020

The Levy Library’s catalog has undergone a major revamp! This session will introduce you to our new platform, provide best practices for locating the materials you need, and demonstrate our exciting new personal account feature!

 

Finding Datasets & Statistics | Thursday 10/8/2020

Many research organizations and governmental bodies make data publicly available on the internet, but how do you go about finding it? In this 30 minute session, we’ll discuss refining your data need, using published literature & specialized data search tools to find potential data sources and how to evaluate data.

 

Introduction to Preprints | Tuesday 10/13/2020

Preprints are changing the scientific publishing landscape, enabling research to be rapidly disseminated. Join us for this 30 minute Zoom session in which we'll cover what preprints are, how they differ from other versions of research papers, and where to find them. We'll also dive into why they're beneficial, especially in the age of COVID-19.

 

Introduction to EndNote | Tuesday 10/20/2020

Discover what millions of researchers, scholarly writers, students and librarians already know about the power of EndNote to search online databases, organize references, and easily create properly formatted citations. In this class, you will practice using EndNote x9 to collect, organize and maintain a 'library' of references, find and save full-text journal articles, and insert & format references in a MS Word document. The class will also cover searching and exporting citations from PubMed and Google Scholar as well as syncing your desktop library with EndNote Online.

 

Understanding ORCID | Wednesday 10/28/2020

ORCID iDs are persistent digital identifiers that distinguish individual investigators and can be used to connect researchers with their contributions over time and across changes of name, location, and institutional affiliation. To facilitate scholarly communication and output, many research funding organizations now require grant applicants to have an ORCID iD. This session will cover how to register for an ID and add publications to your record.

 

NOVEMBER

 

Nursing Reference Center Plus | Tuesday 11/3/2020

Please join us for a 30 minute Zoom session on the Nursing Reference Center database.  In this session we'll cover evidence-based content on NRC, accessing FREE CE credits, how to generate a reference in NRC, accessing competency checklists and patient education, and leadership topics.

 

Journal Selection Tips & Tools | Thursday 11/12/2020

Join us for a 30 minute Zoom session on Journal Selection Tips & Tools. In this session we'll cover using the Journal/Author Name Estimator (JANE) tool to identify appropriate publication targets and using the PubsHub database to compare journals on various criteria including impact factor, rejection rate, target audience, and publication turnaround time. We'll also talk about writing a cover letter to the editor of your chosen target journal.

 

So You Want to Do a Systematic Review? | Tuesday 11/17/2020

Thinking of starting a systematic review and don’t know where to start? This 30 minute session will introduce you to what’s involved in conducting a systematic review, best practices for conducting a quality review, and library resources available to you.

 

Measuring Your Research Impact with PlumX & Altmetrics | Tuesday 11/24/2020

Researchers have many forms of scholarly output, covering much more than journal articles and books. Learn how PlumX tracks the usage of scholarly work by gathering metrics on both traditional and alternative research outputs. In this session we’ll cover what altmetrics are and why they’re important, how PlumX tracks scholarly output, and how to manage your Plum profile.

 

DECEMBER

 

Levy Library Research Discovery 101 | Tuesday 12/08/2020

The Levy Library’s catalog has undergone a major revamp! This session will introduce you to our new platform, provide best practices for locating the materials you need, and demonstrate our exciting new personal account feature!

 

Grey Literature: What It Is and How to Find It | Thursday 12/10/2020

Grey literature, or literature produced outside of traditional publishing channels, is often high quality and should be considered in your research. However, grey literature sources can be confusing and difficult to locate. This session will define and contextualize the concept of grey literature, as well as teach attendees the best ways to locate and identify relevant sources.

 

Introduction to EndNote | Tuesday 12/15/2020

Discover what millions of researchers, scholarly writers, students and librarians already know about the power of EndNote to search online databases, organize references, and easily create properly formatted citations. In this class, you will practice using EndNote x9 to collect, organize and maintain a 'library' of references, find and save full-text journal articles, and insert & format references in a MS Word document. The class will also cover searching and exporting citations from PubMed and Google Scholar as well as syncing your desktop library with EndNote Online.

 

Don't forget that changes can happen! Be sure visit our calendar page for the most up-to-date information!

 

 

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