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Call for papers - Genomics of neurodevelopmental disorders

Guest Editor:
Muhammad Umair, PhD, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Saudi Arabia

Submission Status: Open   |   Submission Deadline: 31 October 2024


BMC Medical Genomics is calling for submissions to our Collection on Genomics of neurodevelopmental disorders. 

In modern societies, neurodevelopmental disorders are a major medical challenge. These disorders lack clear boundaries in clinical presentation, epidemiology, genomics, and proteomics. Technological innovations for the analysis of genomic data revealed a complex architecture of various types of genetic aberrations with distinct frequencies in the population. Major challenges remain however in the diagnostics and treatment of neurodevelopmental disorders. This collection is focussed on novel insights into the genetics and genomics of neurodevelopmental disorders with a view to clinical applications, diagnostics and personalised medicine.

We welcome contributions of clinical research and non-clinical research with focus on experimental data. Bioinformatics studies without primary data will only be considered if they are novel contributions to the field.

Meet the Guest Editor

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Muhammad Umair, PhD, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Saudi Arabia

Muhammad Umair is working as an Associate Research Scientist and Team Leader of Functional Studies at the Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia. He has published over 140 research articles in the field of human genetics, with an accumulative impact factor of more than 600. Umair is currently working on several projects such as "Genetic and functional characterization of Rare Skeletal Disorders (GSDs)," "Genodermatosis," "Preventative Genome Medicine for Inherited Genetic Disorder," "Genetic and Rare Disease Registry" and "Functional Characterization of Neurodevelopmental Disorders."

 

About the Collection

BMC Medical Genomics is calling for submissions to our Collection on Genomics of neurodevelopmental disorders. In modern societies, neurodevelopmental disorders are a major medical challenge. These disorders lack clear boundaries in clinical presentation, epidemiology, genomics, and proteomics. Technological innovations for the analysis of genomic data revealed a complex architecture of various types of genetic aberrations with distinct frequencies in the population. Major challenges remain however in the diagnostics and treatment of neurodevelopmental disorders. This collection is focussed on novel insights into the genetics and genomics of neurodevelopmental disorders with a view to clinical applications, diagnostics and personalised medicine.

We welcome contributions of clinical research and non-clinical research with focus on experimental data. Bioinformatics studies without primary data will only be considered if they are novel contributions to the field.

In this context, potential topics of interest, include, but are not limited to:

  •  Autism spectrum disorder
  • Attention-deficit/ Hyperactivity disorder
  • Neurodevelopmental motor disorders 
  • Learning disorders/ Intellectual disabilities


Image credit: onlyyouqj / stock.adobe.com   

  1. Defects in PPP1R12A can lead to genitourinary and/or brain malformation syndrome (GUBS). GUBS is primarily characterized by neurological or genitourinary system abnormalities, but a few reported cases are associa...

    Authors: Ling Tong, Xinxin Wang, Huiqin Wang, Rong Yang, Xiaoyan Li and Xiaoguang Yin
    Citation: BMC Medical Genomics 2024 17:236
    Content type: Research Published on:

  2. Intellectual disability (ID) is a neurodevelopmental condition affecting around 2% of children and young adults worldwide, characterized by deficits in intellectual functioning and adaptive behavior. Genetic f...

    Authors: Syeda Iqra Hussain, Nazif Muhammad, Shahbaz Ali Shah, Adil u Rehman, Sher Alam Khan, Shamim Saleha, Yar Muhammad Khan, Noor Muhammad, Saadullah Khan and Naveed Wasif
    Citation: BMC Medical Genomics 2024 17:176
    Content type: Research Published on:

  3. PKU is an autosomal recessive hereditary inborn error of metabolism caused by a lack of phenylalanine hydroxylase enzyme activity. Pegvaliase (PALYNZIQ®) treatment has been approved to reduce blood Phe concent...

    Authors: Majid Alfadhel and Rayyan Albarakati
    Citation: BMC Medical Genomics 2024 17:76
    Content type: Case Report Published on:

  4. About 5–10% of neurofibromatosis type 1 (NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions. The most frequent NF1 large deletion is 1.4 Mb, resulting from ho...

    Authors: Laurence Pacot, Milind Girish, Samantha Knight, Gill Spurlock, Vinod Varghese, Manuela Ye, Nick Thomas, Eric Pasmant and Meena Upadhyaya
    Citation: BMC Medical Genomics 2024 17:73
    Content type: Research Published on:

  5. Idiopathic congenital nystagmus (ICN) manifests as involuntary and periodic eye movements. To identify the genetic defect associated with X-linked ICN, Whole Exome Sequencing (WES) was conducted in two affecte...

    Authors: Yuqing Su, Juntao Zhang, Jiahui Gao, Guoqing Ding, Heng Jiang, Yang Liu, Yulei Li and Guohua Yang
    Citation: BMC Medical Genomics 2024 17:36
    Content type: Research Published on:

  6. Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder characterized by a range of physical, cognitive, and behavioral abnormalities. This study aimed to perform a comprehensive review of the literature ...

    Authors: Sahand Tehrani Fateh, Nadia Mohammad Zadeh, Shadab Salehpour, Farzad Hashemi-Gorji, Ashkan Omidi, Hossein Sadeghi, Reza Mirfakhraie, Parinaz Moghimi, Sepideh Keyvanfar, Sepideh Mohammadi Sarvaleh, Mohammad Miryounesi and Mohammad-Reza Ghasemi
    Citation: BMC Medical Genomics 2024 17:20
    Content type: Research Published on:

Submission Guidelines

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This Collection welcomes submission of original Research Articles. Should you wish to submit a different article type, please read our submission guidelines to confirm that type is accepted by the journal. Articles for this Collection should be submitted via our submission system, Snapp. During the submission process you will be asked whether you are submitting to a Collection, please select "Genomics of neurodevelopmental disorders" from the dropdown menu.

Articles will undergo the journal’s standard peer-review process and are subject to all of the journal’s standard policies. Articles will be added to the Collection as they are published.

The Editors have no competing interests with the submissions which they handle through the peer review process. The peer review of any submissions for which the Editors have competing interests is handled by another Editorial Board Member who has no competing interests.