---
_id: '5888'
abstract:
- lang: eng
  text: "Despite the remarkable number of scientific breakthroughs of the last 100
    years, the treatment of neurodevelopmental\r\ndisorders (e.g., autism spectrum
    disorder, intellectual disability) remains a great challenge. Recent advancements
    in\r\ngenomics, such as whole-exome or whole-genome sequencing, have enabled scientists
    to identify numerous\r\nmutations underlying neurodevelopmental disorders. Given
    the few hundred risk genes that have been discovered,\r\nthe etiological variability
    and the heterogeneous clinical presentation, the need for genotype — along with
    phenotype-\r\nbased diagnosis of individual patients has become a requisite. In
    this review we look at recent advancements in\r\ngenomic analysis and their translation
    into clinical practice."
article_number: '100'
article_processing_charge: No
author:
- first_name: Dora-Clara
  full_name: Tarlungeanu, Dora-Clara
  id: 2ABCE612-F248-11E8-B48F-1D18A9856A87
  last_name: Tarlungeanu
- first_name: Gaia
  full_name: Novarino, Gaia
  id: 3E57A680-F248-11E8-B48F-1D18A9856A87
  last_name: Novarino
  orcid: 0000-0002-7673-7178
citation:
  ama: 'Tarlungeanu D-C, Novarino G. Genomics in neurodevelopmental disorders: an
    avenue to personalized medicine. <i>Experimental &#38; Molecular Medicine</i>.
    2018;50(8). doi:<a href="https://doi.org/10.1038/s12276-018-0129-7">10.1038/s12276-018-0129-7</a>'
  apa: 'Tarlungeanu, D.-C., &#38; Novarino, G. (2018). Genomics in neurodevelopmental
    disorders: an avenue to personalized medicine. <i>Experimental &#38; Molecular
    Medicine</i>. Springer Nature. <a href="https://doi.org/10.1038/s12276-018-0129-7">https://doi.org/10.1038/s12276-018-0129-7</a>'
  chicago: 'Tarlungeanu, Dora-Clara, and Gaia Novarino. “Genomics in Neurodevelopmental
    Disorders: An Avenue to Personalized Medicine.” <i>Experimental &#38; Molecular
    Medicine</i>. Springer Nature, 2018. <a href="https://doi.org/10.1038/s12276-018-0129-7">https://doi.org/10.1038/s12276-018-0129-7</a>.'
  ieee: 'D.-C. Tarlungeanu and G. Novarino, “Genomics in neurodevelopmental disorders:
    an avenue to personalized medicine,” <i>Experimental &#38; Molecular Medicine</i>,
    vol. 50, no. 8. Springer Nature, 2018.'
  ista: 'Tarlungeanu D-C, Novarino G. 2018. Genomics in neurodevelopmental disorders:
    an avenue to personalized medicine. Experimental &#38; Molecular Medicine. 50(8),
    100.'
  mla: 'Tarlungeanu, Dora-Clara, and Gaia Novarino. “Genomics in Neurodevelopmental
    Disorders: An Avenue to Personalized Medicine.” <i>Experimental &#38; Molecular
    Medicine</i>, vol. 50, no. 8, 100, Springer Nature, 2018, doi:<a href="https://doi.org/10.1038/s12276-018-0129-7">10.1038/s12276-018-0129-7</a>.'
  short: D.-C. Tarlungeanu, G. Novarino, Experimental &#38; Molecular Medicine 50
    (2018).
date_created: 2019-01-27T22:59:11Z
date_published: 2018-08-07T00:00:00Z
date_updated: 2023-09-11T14:04:41Z
day: '07'
ddc:
- '570'
department:
- _id: GaNo
doi: 10.1038/s12276-018-0129-7
external_id:
  isi:
  - '000441266700006'
  pmid:
  - '30089840'
file:
- access_level: open_access
  checksum: 4498301c8c53097c9a1a8ef990936eb5
  content_type: application/pdf
  creator: dernst
  date_created: 2019-01-28T15:18:02Z
  date_updated: 2020-07-14T12:47:13Z
  file_id: '5893'
  file_name: 2018_EMM_Tarlungeanu.pdf
  file_size: 1237482
  relation: main_file
file_date_updated: 2020-07-14T12:47:13Z
has_accepted_license: '1'
intvolume: '        50'
isi: 1
issue: '8'
language:
- iso: eng
month: '08'
oa: 1
oa_version: Published Version
pmid: 1
publication: Experimental & Molecular Medicine
publication_identifier:
  issn:
  - 2092-6413
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
scopus_import: '1'
status: public
title: 'Genomics in neurodevelopmental disorders: an avenue to personalized medicine'
tmp:
  image: /images/cc_by.png
  legal_code_url: https://creativecommons.org/licenses/by/4.0/legalcode
  name: Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)
  short: CC BY (4.0)
type: journal_article
user_id: c635000d-4b10-11ee-a964-aac5a93f6ac1
volume: 50
year: '2018'
...