View in EDS

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.

Saved in:
Bibliographic Details
Title: Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
Authors: Nicastro M; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart., Vermeer AMC; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Postema PG; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart., Tadros R; Cardiovascular Genetics Center, Montreal Heart Institute and Faculty of Medicine, Université de Montréal, Montreal, QC, Canada., Bowling FZ; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY, USA., Aegisdottir HM; deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, University of Iceland, Reykjavik, Iceland., Tragante V; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Mach L; National Heart and Lung Institute, Imperial College London, London, UK; Royal Brompton Hospital, London, UK; British Heart Foundation Centre of Research Excellence, Imperial College London, London, UK., Postma AV; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Lodder EM; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., van Duijvenboden K; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Zwart R; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Beekman L; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart., Wu L; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY, USA., Jurgens SJ; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA., van der Zwaag PA; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands., Alders M; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Allouba M; Magdi Yacoub Foundation, Cairo, Egypt., Aguib Y; Magdi Yacoub Foundation, Cairo, Egypt; NHLI, Imperial College, London, UK., Santome JL; Health in Code, A Coruña, Spain., de Una D; Health in Code, A Coruña, Spain., Monserrat L; Medical Department, Dilemma Solutions SL. Cardiovascular Research Group A Coruña University, A Coruña, Spain., Miranda AMA; National Heart and Lung Institute, Imperial College London, London, UK., Kanemaru K; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Cranley J; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., van Zeggeren IE; Department of Neurology, Amsterdam UMC, Amsterdam Neuroscience, University of Amsterdam, Amsterdam, the Netherlands., Aronica EMA; Department of Neuropathology, Amsterdam UMC location University of Amsterdam, Amsterdam Neuroscience, Amsterdam, the Netherlands., Ripolone M; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy., Zanotti S; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy., Sveinbjornsson G; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Ivarsdottir EV; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Hólm H; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Guðbjartsson DF; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Skúladóttir ÁT; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Stefánsson K; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Nadauld L; Intermountain Healthcare, St. George, UT, USA., Knowlton KU; Intermountain Healthcare, Salt Lake City, UT, USA., Ostrowski SR; Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Sørensen E; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Vesterager Pedersen OB; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; Department of Clinical Immunology, Zealand University Hospital, Køge, Denmark., Ghouse J; Department of Cardiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark., Rand SA; Department of Cardiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Bundgaard H; Department of Cardiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Ullum H; Statens Serum Institut, Copenhagen, Denmark., Erikstrup C; Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark., Aagaard B; Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark., Bruun MT; Clinical Immunology Research Unit, Department of Clinical Immunology, Odense University Hospital, Odense, Denmark., Christiansen M; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark., Jensen HK; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark; Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark., Carere DA; GeneDx, LLC, Gaithersburg, Maryland, USA., Cummings CT; Department of Pediatrics, Division of Genetics, University of Nebraska Medical Center, Omaha, NE, USA., Fishler K; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA., Tørring PM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Brusgaard K; Department of Clinical Genetics, Lillebaelt Hospital, Institute of Regional Health Research, Odense, Denmark., Juul TM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Saaby L; Department of Cardiology, Odense University Hospital, Odense, Denmark., Winkel BG; Department of Cardiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Mogensen J; Department of Cardiology, Aalborg University Hospital, Aalborg, Denmark., Fortunato F; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Comi GP; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., Ronchi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., van Tintelen JP; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Noseda M; National Heart and Lung Institute, Imperial College London, London, UK; British Heart Foundation Centre of Research Excellence, Imperial College London, London, UK., Airola MV; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY, USA., Christiaans I; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands., Wilde AAM; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart., Wilders R; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Clur SA; Department of Pediatric Cardiology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Verkerk AO; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Bezzina CR; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart., Lahrouchi N; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart. Electronic address: n.lahrouchi@amsterdamumc.nl.
Source: American journal of human genetics [Am J Hum Genet] 2025 Jul 03; Vol. 112 (7), pp. 1681-1698. Date of Electronic Publication: 2025 May 22.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 40409267
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Nicastro+M%22">Nicastro M</searchLink>; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.<br /><searchLink fieldCode="AU" term="%22Vermeer+AMC%22">Vermeer AMC</searchLink>; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Postema+PG%22">Postema PG</searchLink>; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.<br /><searchLink fieldCode="AU" term="%22Tadros+R%22">Tadros R</searchLink>; Cardiovascular Genetics Center, Montreal Heart Institute and Faculty of Medicine, Université de Montréal, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Bowling+FZ%22">Bowling FZ</searchLink>; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY, USA.<br /><searchLink fieldCode="AU" term="%22Aegisdottir+HM%22">Aegisdottir HM</searchLink>; deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Tragante+V%22">Tragante V</searchLink>; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Mach+L%22">Mach L</searchLink>; National Heart and Lung Institute, Imperial College London, London, UK; Royal Brompton Hospital, London, UK; British Heart Foundation Centre of Research Excellence, Imperial College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Postma+AV%22">Postma AV</searchLink>; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Lodder+EM%22">Lodder EM</searchLink>; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Duijvenboden+K%22">van Duijvenboden K</searchLink>; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Zwart+R%22">Zwart R</searchLink>; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Beekman+L%22">Beekman L</searchLink>; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.<br /><searchLink fieldCode="AU" term="%22Wu+L%22">Wu L</searchLink>; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY, USA.<br /><searchLink fieldCode="AU" term="%22Jurgens+SJ%22">Jurgens SJ</searchLink>; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22van+der+Zwaag+PA%22">van der Zwaag PA</searchLink>; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Alders+M%22">Alders M</searchLink>; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Allouba+M%22">Allouba M</searchLink>; Magdi Yacoub Foundation, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Aguib+Y%22">Aguib Y</searchLink>; Magdi Yacoub Foundation, Cairo, Egypt; NHLI, Imperial College, London, UK.<br /><searchLink fieldCode="AU" term="%22Santome+JL%22">Santome JL</searchLink>; Health in Code, A Coruña, Spain.<br /><searchLink fieldCode="AU" term="%22de+Una+D%22">de Una D</searchLink>; Health in Code, A Coruña, Spain.<br /><searchLink fieldCode="AU" term="%22Monserrat+L%22">Monserrat L</searchLink>; Medical Department, Dilemma Solutions SL. Cardiovascular Research Group A Coruña University, A Coruña, Spain.<br /><searchLink fieldCode="AU" term="%22Miranda+AMA%22">Miranda AMA</searchLink>; National Heart and Lung Institute, Imperial College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Kanemaru+K%22">Kanemaru K</searchLink>; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Cranley+J%22">Cranley J</searchLink>; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22van+Zeggeren+IE%22">van Zeggeren IE</searchLink>; Department of Neurology, Amsterdam UMC, Amsterdam Neuroscience, University of Amsterdam, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Aronica+EMA%22">Aronica EMA</searchLink>; Department of Neuropathology, Amsterdam UMC location University of Amsterdam, Amsterdam Neuroscience, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Ripolone+M%22">Ripolone M</searchLink>; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Zanotti+S%22">Zanotti S</searchLink>; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Sveinbjornsson+G%22">Sveinbjornsson G</searchLink>; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Ivarsdottir+EV%22">Ivarsdottir EV</searchLink>; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Hólm+H%22">Hólm H</searchLink>; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Guðbjartsson+DF%22">Guðbjartsson DF</searchLink>; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Skúladóttir+ÁT%22">Skúladóttir ÁT</searchLink>; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Stefánsson+K%22">Stefánsson K</searchLink>; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Nadauld+L%22">Nadauld L</searchLink>; Intermountain Healthcare, St. George, UT, USA.<br /><searchLink fieldCode="AU" term="%22Knowlton+KU%22">Knowlton KU</searchLink>; Intermountain Healthcare, Salt Lake City, UT, USA.<br /><searchLink fieldCode="AU" term="%22Ostrowski+SR%22">Ostrowski SR</searchLink>; Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Sørensen+E%22">Sørensen E</searchLink>; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Vesterager+Pedersen+OB%22">Vesterager Pedersen OB</searchLink>; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; Department of Clinical Immunology, Zealand University Hospital, Køge, Denmark.<br /><searchLink fieldCode="AU" term="%22Ghouse+J%22">Ghouse J</searchLink>; Department of Cardiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Rand+SA%22">Rand SA</searchLink>; Department of Cardiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Bundgaard+H%22">Bundgaard H</searchLink>; Department of Cardiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Ullum+H%22">Ullum H</searchLink>; Statens Serum Institut, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Erikstrup+C%22">Erikstrup C</searchLink>; Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Aagaard+B%22">Aagaard B</searchLink>; Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark.<br /><searchLink fieldCode="AU" term="%22Bruun+MT%22">Bruun MT</searchLink>; Clinical Immunology Research Unit, Department of Clinical Immunology, Odense University Hospital, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Christiansen+M%22">Christiansen M</searchLink>; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Jensen+HK%22">Jensen HK</searchLink>; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark; Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Carere+DA%22">Carere DA</searchLink>; GeneDx, LLC, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Cummings+CT%22">Cummings CT</searchLink>; Department of Pediatrics, Division of Genetics, University of Nebraska Medical Center, Omaha, NE, USA.<br /><searchLink fieldCode="AU" term="%22Fishler+K%22">Fishler K</searchLink>; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA.<br /><searchLink fieldCode="AU" term="%22Tørring+PM%22">Tørring PM</searchLink>; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Brusgaard+K%22">Brusgaard K</searchLink>; Department of Clinical Genetics, Lillebaelt Hospital, Institute of Regional Health Research, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Juul+TM%22">Juul TM</searchLink>; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Saaby+L%22">Saaby L</searchLink>; Department of Cardiology, Odense University Hospital, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Winkel+BG%22">Winkel BG</searchLink>; Department of Cardiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Mogensen+J%22">Mogensen J</searchLink>; Department of Cardiology, Aalborg University Hospital, Aalborg, Denmark.<br /><searchLink fieldCode="AU" term="%22Fortunato+F%22">Fortunato F</searchLink>; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Comi+GP%22">Comi GP</searchLink>; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Ronchi+D%22">Ronchi D</searchLink>; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22van+Tintelen+JP%22">van Tintelen JP</searchLink>; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Noseda+M%22">Noseda M</searchLink>; National Heart and Lung Institute, Imperial College London, London, UK; British Heart Foundation Centre of Research Excellence, Imperial College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Airola+MV%22">Airola MV</searchLink>; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY, USA.<br /><searchLink fieldCode="AU" term="%22Christiaans+I%22">Christiaans I</searchLink>; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Wilde+AAM%22">Wilde AAM</searchLink>; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.<br /><searchLink fieldCode="AU" term="%22Wilders+R%22">Wilders R</searchLink>; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Clur+SA%22">Clur SA</searchLink>; Department of Pediatric Cardiology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Verkerk+AO%22">Verkerk AO</searchLink>; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Bezzina+CR%22">Bezzina CR</searchLink>; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.<br /><searchLink fieldCode="AU" term="%22Lahrouchi+N%22">Lahrouchi N</searchLink>; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart. Electronic address: n.lahrouchi@amsterdamumc.nl.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2025 Jul 03; Vol. 112 (7), pp. 1681-1698. <i>Date of Electronic Publication: </i>2025 May 22.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, N.I.H., Extramural
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40409267
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.ajhg.2025.04.016
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 1681
    Titles:
      – TitleFull: Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Nicastro M
      – PersonEntity:
          Name:
            NameFull: Vermeer AMC
      – PersonEntity:
          Name:
            NameFull: Postema PG
      – PersonEntity:
          Name:
            NameFull: Tadros R
      – PersonEntity:
          Name:
            NameFull: Bowling FZ
      – PersonEntity:
          Name:
            NameFull: Aegisdottir HM
      – PersonEntity:
          Name:
            NameFull: Tragante V
      – PersonEntity:
          Name:
            NameFull: Mach L
      – PersonEntity:
          Name:
            NameFull: Postma AV
      – PersonEntity:
          Name:
            NameFull: Lodder EM
      – PersonEntity:
          Name:
            NameFull: van Duijvenboden K
      – PersonEntity:
          Name:
            NameFull: Zwart R
      – PersonEntity:
          Name:
            NameFull: Beekman L
      – PersonEntity:
          Name:
            NameFull: Wu L
      – PersonEntity:
          Name:
            NameFull: Jurgens SJ
      – PersonEntity:
          Name:
            NameFull: van der Zwaag PA
      – PersonEntity:
          Name:
            NameFull: Alders M
      – PersonEntity:
          Name:
            NameFull: Allouba M
      – PersonEntity:
          Name:
            NameFull: Aguib Y
      – PersonEntity:
          Name:
            NameFull: Santome JL
      – PersonEntity:
          Name:
            NameFull: de Una D
      – PersonEntity:
          Name:
            NameFull: Monserrat L
      – PersonEntity:
          Name:
            NameFull: Miranda AMA
      – PersonEntity:
          Name:
            NameFull: Kanemaru K
      – PersonEntity:
          Name:
            NameFull: Cranley J
      – PersonEntity:
          Name:
            NameFull: van Zeggeren IE
      – PersonEntity:
          Name:
            NameFull: Aronica EMA
      – PersonEntity:
          Name:
            NameFull: Ripolone M
      – PersonEntity:
          Name:
            NameFull: Zanotti S
      – PersonEntity:
          Name:
            NameFull: Sveinbjornsson G
      – PersonEntity:
          Name:
            NameFull: Ivarsdottir EV
      – PersonEntity:
          Name:
            NameFull: Hólm H
      – PersonEntity:
          Name:
            NameFull: Guðbjartsson DF
      – PersonEntity:
          Name:
            NameFull: Skúladóttir ÁT
      – PersonEntity:
          Name:
            NameFull: Stefánsson K
      – PersonEntity:
          Name:
            NameFull: Nadauld L
      – PersonEntity:
          Name:
            NameFull: Knowlton KU
      – PersonEntity:
          Name:
            NameFull: Ostrowski SR
      – PersonEntity:
          Name:
            NameFull: Sørensen E
      – PersonEntity:
          Name:
            NameFull: Vesterager Pedersen OB
      – PersonEntity:
          Name:
            NameFull: Ghouse J
      – PersonEntity:
          Name:
            NameFull: Rand SA
      – PersonEntity:
          Name:
            NameFull: Bundgaard H
      – PersonEntity:
          Name:
            NameFull: Ullum H
      – PersonEntity:
          Name:
            NameFull: Erikstrup C
      – PersonEntity:
          Name:
            NameFull: Aagaard B
      – PersonEntity:
          Name:
            NameFull: Bruun MT
      – PersonEntity:
          Name:
            NameFull: Christiansen M
      – PersonEntity:
          Name:
            NameFull: Jensen HK
      – PersonEntity:
          Name:
            NameFull: Carere DA
      – PersonEntity:
          Name:
            NameFull: Cummings CT
      – PersonEntity:
          Name:
            NameFull: Fishler K
      – PersonEntity:
          Name:
            NameFull: Tørring PM
      – PersonEntity:
          Name:
            NameFull: Brusgaard K
      – PersonEntity:
          Name:
            NameFull: Juul TM
      – PersonEntity:
          Name:
            NameFull: Saaby L
      – PersonEntity:
          Name:
            NameFull: Winkel BG
      – PersonEntity:
          Name:
            NameFull: Mogensen J
      – PersonEntity:
          Name:
            NameFull: Fortunato F
      – PersonEntity:
          Name:
            NameFull: Comi GP
      – PersonEntity:
          Name:
            NameFull: Ronchi D
      – PersonEntity:
          Name:
            NameFull: van Tintelen JP
      – PersonEntity:
          Name:
            NameFull: Noseda M
      – PersonEntity:
          Name:
            NameFull: Airola MV
      – PersonEntity:
          Name:
            NameFull: Christiaans I
      – PersonEntity:
          Name:
            NameFull: Wilde AAM
      – PersonEntity:
          Name:
            NameFull: Wilders R
      – PersonEntity:
          Name:
            NameFull: Clur SA
      – PersonEntity:
          Name:
            NameFull: Verkerk AO
      – PersonEntity:
          Name:
            NameFull: Bezzina CR
      – PersonEntity:
          Name:
            NameFull: Lahrouchi N
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 03
              M: 07
              Text: 2025 Jul 03
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1537-6605
          Numbering:
            – Type: volume
              Value: 112
            – Type: issue
              Value: 7
          Titles:
            – TitleFull: American journal of human genetics
              Type: main
ResultId 1