View in EDS HTML Full Text PDF Full Text

Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India.

Saved in:
Bibliographic Details
Title: Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India.
Authors: Shah J; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Ahmedabad, 380015, India., Mondal D; Centre for Brain Research, Indian Institute of Science Campus, CV Raman Avenue, Bangalore, 560012, India., Jain D; Shishu Child Development And Early Intervention Centre, Ahmedabad, India., Mhatre P; Tender Kinds Centre for Child Development, Navi Mumbai, India., Patel K; Speciality Homeopathic Clinic, Ahmedabad, India., Iyer A; Apollo Hospitals International Ltd, Ahmedabad, India., Pandya M; Kadam Maternity Home, Ahmedabad, India., Menghani B; Children's Institute for Development and Advancement Centre, Vadodara, India., Dave G; P D Patel Institute of Applied Sciences, Charotar University of Science and Technology, Changa, India., Sheth J; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Ahmedabad, 380015, India., Sheth F; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Ahmedabad, 380015, India., Ramdas S; Centre for Brain Research, Indian Institute of Science Campus, CV Raman Avenue, Bangalore, 560012, India. shwetaramdas@iisc.ac.in., Sheth H; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Ahmedabad, 380015, India. harsh.sheth@frige.co.in.
Source: BMC medical genomics [BMC Med Genomics] 2025 Aug 20; Vol. 18 (1), pp. 131. Date of Electronic Publication: 2025 Aug 20.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 40835948
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Shah+J%22">Shah J</searchLink>; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Ahmedabad, 380015, India.<br /><searchLink fieldCode="AU" term="%22Mondal+D%22">Mondal D</searchLink>; Centre for Brain Research, Indian Institute of Science Campus, CV Raman Avenue, Bangalore, 560012, India.<br /><searchLink fieldCode="AU" term="%22Jain+D%22">Jain D</searchLink>; Shishu Child Development And Early Intervention Centre, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Mhatre+P%22">Mhatre P</searchLink>; Tender Kinds Centre for Child Development, Navi Mumbai, India.<br /><searchLink fieldCode="AU" term="%22Patel+K%22">Patel K</searchLink>; Speciality Homeopathic Clinic, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Iyer+A%22">Iyer A</searchLink>; Apollo Hospitals International Ltd, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Pandya+M%22">Pandya M</searchLink>; Kadam Maternity Home, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Menghani+B%22">Menghani B</searchLink>; Children's Institute for Development and Advancement Centre, Vadodara, India.<br /><searchLink fieldCode="AU" term="%22Dave+G%22">Dave G</searchLink>; P D Patel Institute of Applied Sciences, Charotar University of Science and Technology, Changa, India.<br /><searchLink fieldCode="AU" term="%22Sheth+J%22">Sheth J</searchLink>; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Ahmedabad, 380015, India.<br /><searchLink fieldCode="AU" term="%22Sheth+F%22">Sheth F</searchLink>; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Ahmedabad, 380015, India.<br /><searchLink fieldCode="AU" term="%22Ramdas+S%22">Ramdas S</searchLink>; Centre for Brain Research, Indian Institute of Science Campus, CV Raman Avenue, Bangalore, 560012, India. shwetaramdas@iisc.ac.in.<br /><searchLink fieldCode="AU" term="%22Sheth+H%22">Sheth H</searchLink>; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Ahmedabad, 380015, India. harsh.sheth@frige.co.in.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101319628%22">BMC medical genomics</searchLink> [BMC Med Genomics] 2025 Aug 20; Vol. 18 (1), pp. 131. <i>Date of Electronic Publication: </i>2025 Aug 20.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101319628 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1755-8794 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217558794%22">17558794 </searchLink><i>NLM ISO Abbreviation: </i>BMC Med Genomics <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40835948
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s12920-025-02204-6
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 131
    Titles:
      – TitleFull: Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Shah J
      – PersonEntity:
          Name:
            NameFull: Mondal D
      – PersonEntity:
          Name:
            NameFull: Jain D
      – PersonEntity:
          Name:
            NameFull: Mhatre P
      – PersonEntity:
          Name:
            NameFull: Patel K
      – PersonEntity:
          Name:
            NameFull: Iyer A
      – PersonEntity:
          Name:
            NameFull: Pandya M
      – PersonEntity:
          Name:
            NameFull: Menghani B
      – PersonEntity:
          Name:
            NameFull: Dave G
      – PersonEntity:
          Name:
            NameFull: Sheth J
      – PersonEntity:
          Name:
            NameFull: Sheth F
      – PersonEntity:
          Name:
            NameFull: Ramdas S
      – PersonEntity:
          Name:
            NameFull: Sheth H
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 20
              M: 08
              Text: 2025 Aug 20
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1755-8794
          Numbering:
            – Type: volume
              Value: 18
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: BMC medical genomics
              Type: main
ResultId 1