View in EDS

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.

Saved in:
Bibliographic Details
Title: De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.
Authors: Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX. Electronic address: hubshman@bcm.edu., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX., Jangam SV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., von Hardenberg S; Department of Human Genetics, Hannover Medical University, Hannover, Germany., Bergmann A; Department of Human Genetics, Hannover Medical University, Hannover, Germany., Richter MF; Department of Neonatology, AUF DER BULT- Children's and Youth Hospital, Hannover, Germany., Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Stembalska A; Department and Institute of Genetics, Faculty of Medicine, Wroclaw Medical University, Wroclaw, Poland., Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Hernan RR; Department of Pediatrics, Columbia University, New York, NY., Lim FY; Department of Pediatrics, Columbia University, New York, NY., Brunet T; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany., Syrbe S; Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Epileptology, Heidelberg University, Medical Faculty, Heidelberg, Germany., Keren B; Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, Paris, France., Heide S; Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, Paris, France., Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics, Houston, TX., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics, Houston, TX., Ketkar S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Dawson B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Narayanan V; Arizona Pediatric Neurology and Neurogenetics Associates, Phoenix, AZ., Graves HK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Bacino C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX. Electronic address: Blee@bcm.edu.
Corporate Authors: Undiagnosed Diseases Network
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Apr; Vol. 27 (4), pp. 101369. Date of Electronic Publication: 2025 Jan 28.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 39891528
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Weisz-Hubshman+M%22">Weisz-Hubshman M</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX. Electronic address: hubshman@bcm.edu.<br /><searchLink fieldCode="AU" term="%22Burrage+LC%22">Burrage LC</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Jangam+SV%22">Jangam SV</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.<br /><searchLink fieldCode="AU" term="%22von+Hardenberg+S%22">von Hardenberg S</searchLink>; Department of Human Genetics, Hannover Medical University, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Bergmann+A%22">Bergmann A</searchLink>; Department of Human Genetics, Hannover Medical University, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Richter+MF%22">Richter MF</searchLink>; Department of Neonatology, AUF DER BULT- Children's and Youth Hospital, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Rydzanicz+M%22">Rydzanicz M</searchLink>; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Ploski+R%22">Ploski R</searchLink>; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Stembalska+A%22">Stembalska A</searchLink>; Department and Institute of Genetics, Faculty of Medicine, Wroclaw Medical University, Wroclaw, Poland.<br /><searchLink fieldCode="AU" term="%22Chung+WK%22">Chung WK</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Hernan+RR%22">Hernan RR</searchLink>; Department of Pediatrics, Columbia University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Lim+FY%22">Lim FY</searchLink>; Department of Pediatrics, Columbia University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Brunet+T%22">Brunet T</searchLink>; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Syrbe+S%22">Syrbe S</searchLink>; Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Epileptology, Heidelberg University, Medical Faculty, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Heide+S%22">Heide S</searchLink>; Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Murdock+DR%22">Murdock DR</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Dai+H%22">Dai H</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Xia+F%22">Xia F</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Ketkar+S%22">Ketkar S</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Dawson+B%22">Dawson B</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Narayanan+V%22">Narayanan V</searchLink>; Arizona Pediatric Neurology and Neurogenetics Associates, Phoenix, AZ.<br /><searchLink fieldCode="AU" term="%22Graves+HK%22">Graves HK</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Wangler+MF%22">Wangler MF</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Bacino+C%22">Bacino C</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Lee+B%22">Lee B</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX. Electronic address: Blee@bcm.edu.
– Name: AuthorCorporate
  Label: Corporate Authors
  Group: Au
  Data: <searchLink fieldCode="CA" term="%22Undiagnosed+Diseases+Network%22">Undiagnosed Diseases Network</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2025 Apr; Vol. 27 (4), pp. 101369. <i>Date of Electronic Publication: </i>2025 Jan 28.
– 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="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39891528
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.gim.2025.101369
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 101369
    Titles:
      – TitleFull: De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Weisz-Hubshman M
      – PersonEntity:
          Name:
            NameFull: Burrage LC
      – PersonEntity:
          Name:
            NameFull: Jangam SV
      – PersonEntity:
          Name:
            NameFull: Rosenfeld JA
      – PersonEntity:
          Name:
            NameFull: von Hardenberg S
      – PersonEntity:
          Name:
            NameFull: Bergmann A
      – PersonEntity:
          Name:
            NameFull: Richter MF
      – PersonEntity:
          Name:
            NameFull: Rydzanicz M
      – PersonEntity:
          Name:
            NameFull: Ploski R
      – PersonEntity:
          Name:
            NameFull: Stembalska A
      – PersonEntity:
          Name:
            NameFull: Chung WK
      – PersonEntity:
          Name:
            NameFull: Hernan RR
      – PersonEntity:
          Name:
            NameFull: Lim FY
      – PersonEntity:
          Name:
            NameFull: Brunet T
      – PersonEntity:
          Name:
            NameFull: Syrbe S
      – PersonEntity:
          Name:
            NameFull: Keren B
      – PersonEntity:
          Name:
            NameFull: Heide S
      – PersonEntity:
          Name:
            NameFull: Murdock DR
      – PersonEntity:
          Name:
            NameFull: Dai H
      – PersonEntity:
          Name:
            NameFull: Xia F
      – PersonEntity:
          Name:
            NameFull: Ketkar S
      – PersonEntity:
          Name:
            NameFull: Dawson B
      – PersonEntity:
          Name:
            NameFull: Narayanan V
      – PersonEntity:
          Name:
            NameFull: Graves HK
      – PersonEntity:
          Name:
            NameFull: Wangler MF
      – PersonEntity:
          Name:
            NameFull: Bacino C
      – PersonEntity:
          Name:
            NameFull: Lee B
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 04
              Text: 2025 Apr
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1530-0366
          Numbering:
            – Type: volume
              Value: 27
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics
              Type: main
ResultId 1