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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

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Title: CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Authors: Gehin C; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Lone MA; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland., Lee W; Department of Genetics and Development and.; Department Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA., Capolupo L; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Ho S; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Adeyemi AM; Department of Medical Genetics, Cumming School of Medicine, The University of Calgary, Calgary, Alberta, Canada., Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands., Stegmann AP; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, Netherlands., López-Martín E; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Bermejo-Sánchez E; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Martínez-Delgado B; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Kraus C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Center of Functional Genomics, Berlin, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Gräfe D; Department of Pediatric Radiology, University Hospital Leipzig, Leipzig, Leipzig, Germany., Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland (CHI) at Temple Street, Dublin, Ireland.; UCD School of Medicine, Dublin, Ireland., Jones ER; Genuity Science, Cherrywood Business Park, Dublin, Ireland., Zamuner S; Institute of Physics, School of Basic Sciences, École Polytechnique Féderale de Lausanne (EPFL), Lausanne, Switzerland., Abriata LA; Laboratory for Biomolecular Modeling and Protein Purification and Structure Facility, EPFL and Swiss Institute of Bioinformatics, Lausanne Switzerland., Kunnathully V; Institute of Biochemistry and Cell Biology, National Research Council, Naples, Italy., Moeller BE; Department of Biochemistry and Microbiology, University of Victoria, Victoria, Canada., Vocat A; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Rommelaere S; Global Health Institute, School of Life Sciences and., Bocquete JP; Global Health Institute, School of Life Sciences and., Ruchti E; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Limoni G; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Van Campenhoudt M; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Bourgeat S; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Henklein P; Berlin Institute of Health, Institut für Biochemie, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany., Gilissen C; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands., van Bon BW; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands., Pfundt R; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands., Willemsen MH; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands., Schieving JH; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Nijmegen, Netherlands., Leonardi E; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy., Soli F; Medical Genetics Department, APSS Trento, Trento, Italy., Murgia A; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy., Guo H; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Zhang Q; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Xia K; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Fagerberg CR; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Beier CP; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Larsen MJ; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Fernández-Álvarez P; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Xiong S; Fetal Medicine Unit and Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China., Śmigiel R; Department of Family and Pediatric Nursing, Medical University, Wroclaw, Poland., López-González V; Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERER-ISCIII, Murcia, Spain., Armengol L; Quantitative Genomic Medicine Laboratories, S.L., CSO & CEO, Esplugues del Llobregat, Barcelona, Catalunya, Spain., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Selicorni A; Department of Pediatrics, ASST Lariana Sant' Anna Hospital, San Fermo Della Battaglia, Como, Italy., Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Blyth M; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Foresterhill, Aberdeen, United Kingdom., Cooper NS; W Midlands Clinical Genetics Service, Birmingham Women's Hospital, Edgbaston Birmingham, United Kingdom., Wilson V; Northern Regional Genetics Laboratory, Newcastle upon Tyne, United Kingdom., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Herenger Y; Genetica AG, Humangenetisches Labor und Beratungsstelle, Zürich, Switzerland., Garde A; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France., Bruel AL; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Tran Mau-Them F; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Maddocks AB; Department of Radiology at Columbia University Irving Medical Center, New York, New York, USA., Bain JM; Department of Neurology, Columbia University Irving Medical Center, New York Presbyterian Hospital, Columbia University Medical Center, New York, New York, USA., Bhat MA; Institute of Pharmacology and Toxicology University of Zürich, Zürich, Switzerland., Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Kannu P; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada., Marwaha A; Department of Medical Genetics, Cumming School of Medicine, The University of Calgary, Calgary, Alberta, Canada., Champaigne NL; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA., Friez MJ; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA., Richardson EB; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Gupta Y; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA., Lim TY; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA., Sanna-Cherchi S; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA., Lemaitre B; Global Health Institute, School of Life Sciences and., Yamaji T; Department of Biochemistry and Cell Biology, National Institute of Infectious Diseases, Tokyo, Japan., Hanada K; Department of Biochemistry and Cell Biology, National Institute of Infectious Diseases, Tokyo, Japan., Burke JE; Department of Biochemistry and Microbiology, University of Victoria, Victoria, Canada.; Department of Biochemistry and Molecular Biology, The University of British Columbia, Vancouver, British Columbia, Canada., Jakšić AM; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., McCabe BD; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., De Los Rios P; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Institute of Physics, School of Basic Sciences, École Polytechnique Féderale de Lausanne (EPFL), Lausanne, Switzerland., Hornemann T; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland., D'Angelo G; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Institute of Biochemistry and Cell Biology, National Research Council, Naples, Italy.; Global Health Institute, School of Life Sciences and., Gennarino VA; Department of Genetics and Development and.; Department of Pediatrics.; Department of Neurology.; Columbia Stem Cell Initiative, and.; Initiative for Columbia Ataxia and Tremor, Columbia University Irving Medical Center, New York, New York, USA.
Source: The Journal of clinical investigation [J Clin Invest] 2023 May 15; Vol. 133 (10). Date of Electronic Publication: 2023 May 15.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
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PubType: Academic Journal
PubTypeId: academicJournal
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Items – Name: Title
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  Data: CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Gehin+C%22">Gehin C</searchLink>; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Lone+MA%22">Lone MA</searchLink>; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Lee+W%22">Lee W</searchLink>; Department of Genetics and Development and.; Department Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Capolupo+L%22">Capolupo L</searchLink>; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Ho+S%22">Ho S</searchLink>; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Adeyemi+AM%22">Adeyemi AM</searchLink>; Department of Medical Genetics, Cumming School of Medicine, The University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Gerkes+EH%22">Gerkes EH</searchLink>; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Stegmann+AP%22">Stegmann AP</searchLink>; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, Netherlands.<br /><searchLink fieldCode="AU" term="%22López-Martín+E%22">López-Martín E</searchLink>; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Bermejo-Sánchez+E%22">Bermejo-Sánchez E</searchLink>; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Martínez-Delgado+B%22">Martínez-Delgado B</searchLink>; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Zweier+C%22">Zweier C</searchLink>; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.<br /><searchLink fieldCode="AU" term="%22Kraus+C%22">Kraus C</searchLink>; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Popp+B%22">Popp B</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Center of Functional Genomics, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Strehlow+V%22">Strehlow V</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Gräfe+D%22">Gräfe D</searchLink>; Department of Pediatric Radiology, University Hospital Leipzig, Leipzig, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Knerr+I%22">Knerr I</searchLink>; National Centre for Inherited Metabolic Disorders, Children's Health Ireland (CHI) at Temple Street, Dublin, Ireland.; UCD School of Medicine, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Jones+ER%22">Jones ER</searchLink>; Genuity Science, Cherrywood Business Park, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Zamuner+S%22">Zamuner S</searchLink>; Institute of Physics, School of Basic Sciences, École Polytechnique Féderale de Lausanne (EPFL), Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Abriata+LA%22">Abriata LA</searchLink>; Laboratory for Biomolecular Modeling and Protein Purification and Structure Facility, EPFL and Swiss Institute of Bioinformatics, Lausanne Switzerland.<br /><searchLink fieldCode="AU" term="%22Kunnathully+V%22">Kunnathully V</searchLink>; Institute of Biochemistry and Cell Biology, National Research Council, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Moeller+BE%22">Moeller BE</searchLink>; Department of Biochemistry and Microbiology, University of Victoria, Victoria, Canada.<br /><searchLink fieldCode="AU" term="%22Vocat+A%22">Vocat A</searchLink>; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Rommelaere+S%22">Rommelaere S</searchLink>; Global Health Institute, School of Life Sciences and.<br /><searchLink fieldCode="AU" term="%22Bocquete+JP%22">Bocquete JP</searchLink>; Global Health Institute, School of Life Sciences and.<br /><searchLink fieldCode="AU" term="%22Ruchti+E%22">Ruchti E</searchLink>; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Limoni+G%22">Limoni G</searchLink>; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Van+Campenhoudt+M%22">Van Campenhoudt M</searchLink>; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Bourgeat+S%22">Bourgeat S</searchLink>; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Henklein+P%22">Henklein P</searchLink>; Berlin Institute of Health, Institut für Biochemie, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Gilissen+C%22">Gilissen C</searchLink>; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Bon+BW%22">van Bon BW</searchLink>; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Pfundt+R%22">Pfundt R</searchLink>; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Willemsen+MH%22">Willemsen MH</searchLink>; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Schieving+JH%22">Schieving JH</searchLink>; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Leonardi+E%22">Leonardi E</searchLink>; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy.<br /><searchLink fieldCode="AU" term="%22Soli+F%22">Soli F</searchLink>; Medical Genetics Department, APSS Trento, Trento, Italy.<br /><searchLink fieldCode="AU" term="%22Murgia+A%22">Murgia A</searchLink>; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy.<br /><searchLink fieldCode="AU" term="%22Guo+H%22">Guo H</searchLink>; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.<br /><searchLink fieldCode="AU" term="%22Zhang+Q%22">Zhang Q</searchLink>; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.<br /><searchLink fieldCode="AU" term="%22Xia+K%22">Xia K</searchLink>; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.<br /><searchLink fieldCode="AU" term="%22Fagerberg+CR%22">Fagerberg CR</searchLink>; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Beier+CP%22">Beier CP</searchLink>; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Larsen+MJ%22">Larsen MJ</searchLink>; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Valenzuela+I%22">Valenzuela I</searchLink>; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Fernández-Álvarez+P%22">Fernández-Álvarez P</searchLink>; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Xiong+S%22">Xiong S</searchLink>; Fetal Medicine Unit and Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Śmigiel+R%22">Śmigiel R</searchLink>; Department of Family and Pediatric Nursing, Medical University, Wroclaw, Poland.<br /><searchLink fieldCode="AU" term="%22López-González+V%22">López-González V</searchLink>; Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERER-ISCIII, Murcia, Spain.<br /><searchLink fieldCode="AU" term="%22Armengol+L%22">Armengol L</searchLink>; Quantitative Genomic Medicine Laboratories, S.L., CSO & CEO, Esplugues del Llobregat, Barcelona, Catalunya, Spain.<br /><searchLink fieldCode="AU" term="%22Morleo+M%22">Morleo M</searchLink>; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Selicorni+A%22">Selicorni A</searchLink>; Department of Pediatrics, ASST Lariana Sant' Anna Hospital, San Fermo Della Battaglia, Como, Italy.<br /><searchLink fieldCode="AU" term="%22Torella+A%22">Torella A</searchLink>; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Blyth+M%22">Blyth M</searchLink>; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Foresterhill, Aberdeen, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Cooper+NS%22">Cooper NS</searchLink>; W Midlands Clinical Genetics Service, Birmingham Women's Hospital, Edgbaston Birmingham, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Wilson+V%22">Wilson V</searchLink>; Northern Regional Genetics Laboratory, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Oegema+R%22">Oegema R</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.<br /><searchLink fieldCode="AU" term="%22Herenger+Y%22">Herenger Y</searchLink>; Genetica AG, Humangenetisches Labor und Beratungsstelle, Zürich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Garde+A%22">Garde A</searchLink>; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Bruel+AL%22">Bruel AL</searchLink>; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Tran+Mau-Them+F%22">Tran Mau-Them F</searchLink>; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Maddocks+AB%22">Maddocks AB</searchLink>; Department of Radiology at Columbia University Irving Medical Center, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Bain+JM%22">Bain JM</searchLink>; Department of Neurology, Columbia University Irving Medical Center, New York Presbyterian Hospital, Columbia University Medical Center, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Bhat+MA%22">Bhat MA</searchLink>; Institute of Pharmacology and Toxicology University of Zürich, Zürich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Costain+G%22">Costain G</searchLink>; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Kannu+P%22">Kannu P</searchLink>; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Marwaha+A%22">Marwaha A</searchLink>; Department of Medical Genetics, Cumming School of Medicine, The University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Champaigne+NL%22">Champaigne NL</searchLink>; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Friez+MJ%22">Friez MJ</searchLink>; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Richardson+EB%22">Richardson EB</searchLink>; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Gowda+VK%22">Gowda VK</searchLink>; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Srinivasan+VM%22">Srinivasan VM</searchLink>; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Gupta+Y%22">Gupta Y</searchLink>; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Lim+TY%22">Lim TY</searchLink>; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Sanna-Cherchi+S%22">Sanna-Cherchi S</searchLink>; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Lemaitre+B%22">Lemaitre B</searchLink>; Global Health Institute, School of Life Sciences and.<br /><searchLink fieldCode="AU" term="%22Yamaji+T%22">Yamaji T</searchLink>; Department of Biochemistry and Cell Biology, National Institute of Infectious Diseases, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Hanada+K%22">Hanada K</searchLink>; Department of Biochemistry and Cell Biology, National Institute of Infectious Diseases, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Burke+JE%22">Burke JE</searchLink>; Department of Biochemistry and Microbiology, University of Victoria, Victoria, Canada.; Department of Biochemistry and Molecular Biology, The University of British Columbia, Vancouver, British Columbia, Canada.<br /><searchLink fieldCode="AU" term="%22Jakšić+AM%22">Jakšić AM</searchLink>; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22McCabe+BD%22">McCabe BD</searchLink>; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22De+Los+Rios+P%22">De Los Rios P</searchLink>; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Institute of Physics, School of Basic Sciences, École Polytechnique Féderale de Lausanne (EPFL), Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Hornemann+T%22">Hornemann T</searchLink>; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22D'Angelo+G%22">D'Angelo G</searchLink>; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Institute of Biochemistry and Cell Biology, National Research Council, Naples, Italy.; Global Health Institute, School of Life Sciences and.<br /><searchLink fieldCode="AU" term="%22Gennarino+VA%22">Gennarino VA</searchLink>; Department of Genetics and Development and.; Department of Pediatrics.; Department of Neurology.; Columbia Stem Cell Initiative, and.; Initiative for Columbia Ataxia and Tremor, Columbia University Irving Medical Center, New York, New York, USA.
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  Label: Source
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  Data: <searchLink fieldCode="JN" term="%227802877%22">The Journal of clinical investigation</searchLink> [J Clin Invest] 2023 May 15; Vol. 133 (10). <i>Date of Electronic Publication: </i>2023 May 15.
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  Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22American+Society+for+Clinical+Investigation%22">American Society for Clinical Investigation </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7802877 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1558-8238 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200219738%22">00219738 </searchLink><i>NLM ISO Abbreviation: </i>J Clin Invest <i>Subsets: </i>MEDLINE
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      – TitleFull: CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
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              Text: 2023 May 15
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              Y: 2023
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