OSCR

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

This page is built on request from the registry's record of the paper. The 6,000 most recent papers have a fuller page, built ahead of time, with the Code ↔ Paper reader, the tracing map and its validation, the record's versions, how to cite it and similar papers. This paper is older: its record, its code, its data and the requests about it are below.

Code

5 files of its code read. The Code ↔ Paper reader is built for the 6,000 most recent papers only: this paper's code is read at its source.

matteoferla/MED27_analysis

License: MIT
State: the link answers
Copies: kept by the registry: this license allows it
Tools found in the code: Biopython

Overview

Authors: Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M Al Shamsi, Homa Tajsharghi, Mohamed S Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama Alabdi
and 66 other authorsChristian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Sheraz Khan, Maha Al Shalan, Scott E Hickey, Daphna Marom, Emil Elhanan, Manju A Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Ayça Dilruba Aslanger, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I Al Aqeel, Frances A High, Amy E Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A Schatz, Maryam Ghavideldarestani, Walaa A Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J Gleeson, Fowzan Sami Alkuraya, James R Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severino
Published: 1 December 2023
Type: Research article
Status: code verified (how the code is found and verified)
License: CC BY
Institutions: UCL Queen Square Institute of Neurology (United Kingdom), University College London (United Kingdom), Shahid Chamran University of Ahvaz (Iran), National Research Centre (Egypt), Centre for Human Genetics (United Kingdom), University of Oxford (United Kingdom), NIHR Oxford Biomedical Research Centre (United Kingdom), Istituto Giannina Gaslini (Italy), Ahvaz Jundishapur University of Medical Sciences (Iran), National Institute for Biotechnology and Genetic Engineering (Pakistan), Pakistan Institute of Engineering and Applied Sciences (Pakistan), Pir Mehr Ali Shah Arid Agriculture University (Pakistan), St George's, University of London (United Kingdom), Islamic Azad University, Mashhad (Iran), Istanbul University (Türkiye), Tawam Hospital (United Arab Emirates), University of Skövde (Sweden), University of Baghdad (Iraq), King Saud bin Abdulaziz University for Health Sciences (Saudi Arabia), King Abdulaziz Medical City (Saudi Arabia), King Abdullah International Medical Research Center (Saudi Arabia), National Guard Health Affairs (Saudi Arabia), King Faisal Specialist Hospital & Research Centre (Saudi Arabia), King Saud University (Saudi Arabia), Centogene (Germany) (Germany), University of Copenhagen (Denmark), University of Swat (Pakistan), Mashhad University of Medical Sciences (Iran), Innsbruck Medical University (Austria), North Khorasan University of Medical Sciences (Iran), University of Helsinki (Finland), Helsinki University Hospital (Finland), Helsinki Children's Hospital (Finland), Aga Khan University (Pakistan), Nationwide Children's Hospital (United States), The Ohio State University (United States), Tel Aviv University (Israel), Tel Aviv Sourasky Medical Center (Israel), Great Ormond Street Hospital (United Kingdom), Baylor College of Medicine (United States), Kuwait University (Kuwait), Pasteur Institute of Iran (Iran), University of Child Health Sciences (Pakistan), SPZ Frankfurt Mitte (Germany), Northwestern University (United States), University of Zurich (Switzerland), University of L'Aquila (Italy), Cook Children's Medical Center (United States), Clalit Health Services (Israel), Riyadh Armed Forces Hospital (Saudi Arabia), Alfaisal University (Saudi Arabia), American University of Beirut (Lebanon), Harvard University (United States), Massachusetts General Hospital (United States), KU Leuven (Belgium), Inserm (France), Sorbonne Université (France), Hôpital Armand-Trousseau (France), Assistance Publique – Hôpitaux de Paris (France), Institut des Maladies Génétiques Imagine (France), TUM Klinikum (Germany), Institut für Humangenetik (Germany), Technical University of Munich (Germany), Hull York Medical School (United Kingdom), Beni-Suef University (Egypt), Universitair Ziekenhuis Leuven (Belgium), University Children's Hospital Zurich (Switzerland), United Arab Emirates University (United Arab Emirates), University of California San Diego (United States), Rady Children's Institute for Genomic Medicine (United States), Texas Children's Hospital (United States), Boston Children's Hospital (United States), Columbia University Irving Medical Center (United States)

Data

Datasets cited

Contribute

The authors of this paper can claim it and correct its record, and the maintainers of its code (its owner, or a public member of its organization) correct what it says of their repository; anyone signed in can ask for its removal. Every request goes to the registry's own machine, which answers it; your account page follows them.

Sign in with ORCID to claim this paper as one of its authors or correct its record: when the paper's metadata lists your ORCID iD, you are recognized at once. Maintainers of its code: sign in with GitHub, then claim the repository on your account page.

Add the badge to the code's README

OSCR: the badge of this paper

Authors and maintainers of this paper's code: the badge says what OSCR knows of the paper and links the code to this page. Paste one of these under the README's title. Keep the two marks around it: they let the badge be replaced in place, never added twice. Nothing is changed for you.

Markdown
<!-- oscr-badge:start -->
[![OSCR](https://openscicode.org/badge/doi/10.1093/brain/awad257.svg)](https://openscicode.org/badge/doi/10.1093/brain/awad257)
<!-- oscr-badge:end -->
reStructuredText
.. oscr-badge:start

.. image:: https://openscicode.org/badge/doi/10.1093/brain/awad257.svg
   :target: https://openscicode.org/badge/doi/10.1093/brain/awad257
   :alt: OSCR

.. oscr-badge:end
HTML
<!-- oscr-badge:start -->
<a href="https://openscicode.org/badge/doi/10.1093/brain/awad257"><img src="https://openscicode.org/badge/doi/10.1093/brain/awad257.svg" alt="OSCR"></a>
<!-- oscr-badge:end -->

On GitHub, open the README, choose Edit (the pencil), paste the snippet under the title, then "Commit changes".

Or let it be kept for you, once you choose it: oscr badge --write from the command line, or the GitHub Action in your repository's workflows. Every other form is on the badge page.

Request its removal

To ask for this record, the copies of its authors' scripts or its tracing map to be removed, use the removal request page: signed in, you say who you are, what to remove and why, then review and confirm the request. Published rules decide every request (how).