Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 816 trios.

Saved in:
Bibliographic Details
Title: Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 816 trios.
Authors: Robinson KR; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA., Curtis SW; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA., Paschall JE; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD., Beaty TH; Department of Epidemiology, Johns Hopkins University, Baltimore, MD., Butali A; Department of Oral Biology, Radiology, and Medicine, University of Iowa, Iowa City, IA., Buxó CJ; School of Dental Medicine, University of Puerto Rico, San Juan, Puerto Rico., Cutler DJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA., Epstein MP; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA., Hecht JT; Department of Pediatrics, McGovern Medical School University of Texas Health at Houston, Houston, TX., Uribe LM; Department of Orthodontics & The Iowa Institute for Oral Health Research, University of Iowa, Iowa City, IA., Shaw GM; Department of Pediatrics, Stanford University, Stanford, CA., Murray JC; Department of Pediatrics, University of Iowa, Iowa City, IA., Brand H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA., Weinberg SM; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA., Marazita ML; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA., Doheny KF; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD., Leslie-Clarkson EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Mar 04. Date of Electronic Publication: 2025 Mar 04.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 40093200
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 816 trios.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Robinson+KR%22">Robinson KR</searchLink>; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA.<br /><searchLink fieldCode="AU" term="%22Curtis+SW%22">Curtis SW</searchLink>; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA.<br /><searchLink fieldCode="AU" term="%22Paschall+JE%22">Paschall JE</searchLink>; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.<br /><searchLink fieldCode="AU" term="%22Beaty+TH%22">Beaty TH</searchLink>; Department of Epidemiology, Johns Hopkins University, Baltimore, MD.<br /><searchLink fieldCode="AU" term="%22Butali+A%22">Butali A</searchLink>; Department of Oral Biology, Radiology, and Medicine, University of Iowa, Iowa City, IA.<br /><searchLink fieldCode="AU" term="%22Buxó+CJ%22">Buxó CJ</searchLink>; School of Dental Medicine, University of Puerto Rico, San Juan, Puerto Rico.<br /><searchLink fieldCode="AU" term="%22Cutler+DJ%22">Cutler DJ</searchLink>; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA.<br /><searchLink fieldCode="AU" term="%22Epstein+MP%22">Epstein MP</searchLink>; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA.<br /><searchLink fieldCode="AU" term="%22Hecht+JT%22">Hecht JT</searchLink>; Department of Pediatrics, McGovern Medical School University of Texas Health at Houston, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Uribe+LM%22">Uribe LM</searchLink>; Department of Orthodontics & The Iowa Institute for Oral Health Research, University of Iowa, Iowa City, IA.<br /><searchLink fieldCode="AU" term="%22Shaw+GM%22">Shaw GM</searchLink>; Department of Pediatrics, Stanford University, Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Murray+JC%22">Murray JC</searchLink>; Department of Pediatrics, University of Iowa, Iowa City, IA.<br /><searchLink fieldCode="AU" term="%22Brand+H%22">Brand H</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Weinberg+SM%22">Weinberg SM</searchLink>; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA.<br /><searchLink fieldCode="AU" term="%22Marazita+ML%22">Marazita ML</searchLink>; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA.<br /><searchLink fieldCode="AU" term="%22Doheny+KF%22">Doheny KF</searchLink>; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.<br /><searchLink fieldCode="AU" term="%22Leslie-Clarkson+EJ%22">Leslie-Clarkson EJ</searchLink>; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101767986%22">MedRxiv : the preprint server for health sciences</searchLink> [medRxiv] 2025 Mar 04. <i>Date of Electronic Publication: </i>2025 Mar 04.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Preprint
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Country of Publication: </i>United States <i>NLM ID: </i>101767986 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>NLM ISO Abbreviation: </i>medRxiv <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40093200
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1101/2025.03.03.25323233
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 816 trios.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Robinson KR
      – PersonEntity:
          Name:
            NameFull: Curtis SW
      – PersonEntity:
          Name:
            NameFull: Paschall JE
      – PersonEntity:
          Name:
            NameFull: Beaty TH
      – PersonEntity:
          Name:
            NameFull: Butali A
      – PersonEntity:
          Name:
            NameFull: Buxó CJ
      – PersonEntity:
          Name:
            NameFull: Cutler DJ
      – PersonEntity:
          Name:
            NameFull: Epstein MP
      – PersonEntity:
          Name:
            NameFull: Hecht JT
      – PersonEntity:
          Name:
            NameFull: Uribe LM
      – PersonEntity:
          Name:
            NameFull: Shaw GM
      – PersonEntity:
          Name:
            NameFull: Murray JC
      – PersonEntity:
          Name:
            NameFull: Brand H
      – PersonEntity:
          Name:
            NameFull: Weinberg SM
      – PersonEntity:
          Name:
            NameFull: Marazita ML
      – PersonEntity:
          Name:
            NameFull: Doheny KF
      – PersonEntity:
          Name:
            NameFull: Leslie-Clarkson EJ
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 04
              M: 03
              Text: 2025 Mar 04
              Type: published
              Y: 2025
          Titles:
            – TitleFull: MedRxiv : the preprint server for health sciences
              Type: main
ResultId 1