View in EDS HTML Full Text PDF Full Text

Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism.

Saved in:
Bibliographic Details
Title: Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism.
Authors: Kim, Soo-Whee1,2 (AUTHOR), Lee, Hyeji1,2 (AUTHOR), Song, Da Yea3,4 (AUTHOR), Lee, Gang-Hee1,2 (AUTHOR), Han, Jae Hyun3,5 (AUTHOR), Lee, Jee Won6 (AUTHOR), Byun, Hee Jung7 (AUTHOR), Son, Ji Hyun7 (AUTHOR), Kim, Ye Rim3,4 (AUTHOR), Lee, Yoojeong3 (AUTHOR), Kim, Eunjoon8,9 (AUTHOR), Werling, Donna M.10 (AUTHOR), Kim, So Hyun11 (AUTHOR), Sanders, Stephan J.12,13 (AUTHOR), Yoo, Hee Jeong3,4 (AUTHOR) hjyoo@snu.ac.kr, An, Joon-Yong1,2,14 (AUTHOR) joonan30@korea.ac.kr
Source: Genome Medicine. 8/20/2025, Vol. 17 Issue 1, p1-16. 16p.
Database: Academic Search Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: asn
DbLabel: Academic Search Ultimate
An: 187434569
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Kim%2C+Soo-Whee%22">Kim, Soo-Whee</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lee%2C+Hyeji%22">Lee, Hyeji</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Song%2C+Da+Yea%22">Song, Da Yea</searchLink><relatesTo>3,4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lee%2C+Gang-Hee%22">Lee, Gang-Hee</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Han%2C+Jae+Hyun%22">Han, Jae Hyun</searchLink><relatesTo>3,5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lee%2C+Jee+Won%22">Lee, Jee Won</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Byun%2C+Hee+Jung%22">Byun, Hee Jung</searchLink><relatesTo>7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Son%2C+Ji+Hyun%22">Son, Ji Hyun</searchLink><relatesTo>7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kim%2C+Ye+Rim%22">Kim, Ye Rim</searchLink><relatesTo>3,4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lee%2C+Yoojeong%22">Lee, Yoojeong</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kim%2C+Eunjoon%22">Kim, Eunjoon</searchLink><relatesTo>8,9</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Werling%2C+Donna+M%2E%22">Werling, Donna M.</searchLink><relatesTo>10</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kim%2C+So+Hyun%22">Kim, So Hyun</searchLink><relatesTo>11</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sanders%2C+Stephan+J%2E%22">Sanders, Stephan J.</searchLink><relatesTo>12,13</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Yoo%2C+Hee+Jeong%22">Yoo, Hee Jeong</searchLink><relatesTo>3,4</relatesTo> (AUTHOR)<i> hjyoo@snu.ac.kr</i><br /><searchLink fieldCode="AR" term="%22An%2C+Joon-Yong%22">An, Joon-Yong</searchLink><relatesTo>1,2,14</relatesTo> (AUTHOR)<i> joonan30@korea.ac.kr</i>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Genome+Medicine%22">Genome Medicine</searchLink>. 8/20/2025, Vol. 17 Issue 1, p1-16. 16p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=187434569
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s13073-025-01532-7
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 16
        StartPage: 1
    Titles:
      – TitleFull: Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Kim, Soo-Whee
      – PersonEntity:
          Name:
            NameFull: Lee, Hyeji
      – PersonEntity:
          Name:
            NameFull: Song, Da Yea
      – PersonEntity:
          Name:
            NameFull: Lee, Gang-Hee
      – PersonEntity:
          Name:
            NameFull: Han, Jae Hyun
      – PersonEntity:
          Name:
            NameFull: Lee, Jee Won
      – PersonEntity:
          Name:
            NameFull: Byun, Hee Jung
      – PersonEntity:
          Name:
            NameFull: Son, Ji Hyun
      – PersonEntity:
          Name:
            NameFull: Kim, Ye Rim
      – PersonEntity:
          Name:
            NameFull: Lee, Yoojeong
      – PersonEntity:
          Name:
            NameFull: Kim, Eunjoon
      – PersonEntity:
          Name:
            NameFull: Werling, Donna M.
      – PersonEntity:
          Name:
            NameFull: Kim, So Hyun
      – PersonEntity:
          Name:
            NameFull: Sanders, Stephan J.
      – PersonEntity:
          Name:
            NameFull: Yoo, Hee Jeong
      – PersonEntity:
          Name:
            NameFull: An, Joon-Yong
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 20
              M: 08
              Text: 8/20/2025
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-print
              Value: 1756994X
          Numbering:
            – Type: volume
              Value: 17
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Genome Medicine
              Type: main
ResultId 1