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Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

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Title: Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
Authors: Kröll-Hermi A; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany., Stoetzel C; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France., Etard C; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany., Halabelian L; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada; Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada., Schaefer E; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Scheidecker S; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Payman J; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Geoffroy V; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France., Prasad M; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France., Obringer C; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France., Ruch L; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France., Girard A; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France., Zeng H; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada., Li F; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada., Plassard D; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France; Plateforme GenomEast, Infrastructure France Génomique, Strasbourg, France., Keime C; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France; Plateforme GenomEast, Infrastructure France Génomique, Strasbourg, France., Mattioli F; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France., Feger C; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Piton A; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France., Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Castro MAA; Unidade de Genetica, Instituto da Crianca, HC FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil., Ae KC; Unidade de Genetica, Instituto da Crianca, HC FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil., Ruaud L; Université de Paris, UMR 1141 NEURODIDEROT, INSERM, Département de Génétique, Hôpital Universitaire Robert Debré, APHP Nord, Paris, France., Levy J; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France., Dozières B; AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et des Maladies Métaboliques, Paris, France., Tabet AC; AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et des Maladies Métaboliques, Paris, France; Neuroscience Department, Génétique Humaine et Fonction Cognitive Unit, Pasteur Institute, Paris, France., Wentzensen IM; GeneDx Inc., Gaithersburg, MD 20877, USA., Santiago-Sim T; GeneDx Inc., Gaithersburg, MD 20877, USA., Yusupov R; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Smeland MF; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Alkhunaizi E; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Cowing G; McMaster University Medical Center, Hamilton, ON, Canada., Li C; McMaster University Medical Center, Hamilton, ON, Canada., Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboud UMC, Nijmegen, the Netherlands., Feichtinger RG; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria., Mayr JA; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria., Gonorazky H; Division of Neurology, The Hospital for Sick Children, Toronto, ON, Canada., Jing G; Department of Pediatric Neurology, West China Second University Hospital, Sichuan University, Chengdu, China., Wang X; Cipher Gene Ltd., Beijing, China., Wang J; Cipher Gene Ltd., Beijing, China., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Grinstein L; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Ruiz A; Genetics Laboratory, Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain., Gabau E; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain., Kampmeier A; Institute of Human Genetics, University Medical Center Essen, University of Duisburg-Essen, Essen, Germany., Kassel O; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany., Kuechler A; Institute of Human Genetics, University Medical Center Essen, University of Duisburg-Essen, Essen, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Woerner A; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Idleburg M; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Kircher SG; Institute of Medical Genetics, Center of Pathobiochemistry and Genetics, Medical University of Vienna, Vienna, Austria., Laccone F; Institute of Medical Genetics, Center of Pathobiochemistry and Genetics, Medical University of Vienna, Vienna, Austria., Golob B; Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia., Peterlin B; Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia., Čuturilo G; University Children's Hospital Belgrade, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia., Tasic V; University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia., Kolvenbach CM; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Hildebrandt F; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Ramos LLP; Neurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo 01308-000, Brazil; Mendelics Genomic Analysis, Sao Paulo, Sao Paulo 04013-000, Brazil., Kok F; Neurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo 01308-000, Brazil; Mendelics Genomic Analysis, Sao Paulo, Sao Paulo 04013-000, Brazil., Buck CB; School of Medicine, Anhembi Morumbi University, Piracicaba, Sao Paulo 13425-380, Brazil., van de Laar IMBH; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., de Man SA; Department of Pediatrics, Amphia Hospital, Breda, the Netherlands., Taşdelen E; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Türkiye., Sezer A; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Türkiye., Büke A; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Türkiye., Yavuz Z; Department of Neurology, Ankara Etlik City Hospital, Ankara, Türkiye., Çomoğlu SS; Department of Neurology, Ankara Etlik City Hospital, Ankara, Türkiye., Costin C; Genetic Center, Akron Children's Hospital, Akron, OH, USA., Tran Mau Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France; INSERM UMR1231 GAD, 21000 Dijon, France., Lacaze E; Department of Medical Genetics, Le Havre Hospital, Le Havre, France., Courtin T; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France., Héron D; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France., Keren B; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France., Whalen S; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France., Roume J; Department of Clinical Genetics, Centre de Référence 'AnDDI Rares', Poissy Hospital GHU PIFO, Poissy, France., Yang Y; Department of Cancer Genetics and Epigenetics, Beckman Research Institute, City of Hope Cancer Center, Duarte, CA, USA., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Arrowsmith CH; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada; Princess Margaret Cancer Centre and Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 2M9, Canada., Strähle U; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany; Centre for Organismal Studies (COS), University of Heidelberg, Im Neuenheimer Feld 223, 69120 Heidelberg, Germany., Dollfus H; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Centre de Référence pour les affections rares en génétique ophtalmologique (CARGO), Filière SENSGENE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address: dollfus@unistra.fr., Muller J; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada; Unité Fonctionnelle de Bioinformatique Médicale appliquée au diagnostic (UF7363), Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address: jeanmuller@unistra.fr.
Source: American journal of human genetics [Am J Hum Genet] 2025 Dec 04; Vol. 112 (12), pp. 2943-2960. Date of Electronic Publication: 2025 Nov 18.
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
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DbLabel: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
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  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Kröll-Hermi+A%22">Kröll-Hermi A</searchLink>; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany.<br /><searchLink fieldCode="AU" term="%22Stoetzel+C%22">Stoetzel C</searchLink>; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Etard+C%22">Etard C</searchLink>; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany.<br /><searchLink fieldCode="AU" term="%22Halabelian+L%22">Halabelian L</searchLink>; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada; Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Schaefer+E%22">Schaefer E</searchLink>; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Scheidecker+S%22">Scheidecker S</searchLink>; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Kahrizi+K%22">Kahrizi K</searchLink>; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Payman+J%22">Payman J</searchLink>; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Geoffroy+V%22">Geoffroy V</searchLink>; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Prasad+M%22">Prasad M</searchLink>; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Obringer+C%22">Obringer C</searchLink>; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Ruch+L%22">Ruch L</searchLink>; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Girard+A%22">Girard A</searchLink>; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Zeng+H%22">Zeng H</searchLink>; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada.<br /><searchLink fieldCode="AU" term="%22Li+F%22">Li F</searchLink>; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada.<br /><searchLink fieldCode="AU" term="%22Plassard+D%22">Plassard D</searchLink>; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France; Plateforme GenomEast, Infrastructure France Génomique, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Keime+C%22">Keime C</searchLink>; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France; Plateforme GenomEast, Infrastructure France Génomique, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Mattioli+F%22">Mattioli F</searchLink>; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France.<br /><searchLink fieldCode="AU" term="%22Feger+C%22">Feger C</searchLink>; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Piton+A%22">Piton A</searchLink>; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France.<br /><searchLink fieldCode="AU" term="%22Fujita+A%22">Fujita A</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Matsumoto+N%22">Matsumoto N</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Castro+MAA%22">Castro MAA</searchLink>; Unidade de Genetica, Instituto da Crianca, HC FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Ae+KC%22">Ae KC</searchLink>; Unidade de Genetica, Instituto da Crianca, HC FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Ruaud+L%22">Ruaud L</searchLink>; Université de Paris, UMR 1141 NEURODIDEROT, INSERM, Département de Génétique, Hôpital Universitaire Robert Debré, APHP Nord, Paris, France.<br /><searchLink fieldCode="AU" term="%22Levy+J%22">Levy J</searchLink>; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Dozières+B%22">Dozières B</searchLink>; AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et des Maladies Métaboliques, Paris, France.<br /><searchLink fieldCode="AU" term="%22Tabet+AC%22">Tabet AC</searchLink>; AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et des Maladies Métaboliques, Paris, France; Neuroscience Department, Génétique Humaine et Fonction Cognitive Unit, Pasteur Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Wentzensen+IM%22">Wentzensen IM</searchLink>; GeneDx Inc., Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Santiago-Sim+T%22">Santiago-Sim T</searchLink>; GeneDx Inc., Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Yusupov+R%22">Yusupov R</searchLink>; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA.<br /><searchLink fieldCode="AU" term="%22Tveten+K%22">Tveten K</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Smeland+MF%22">Smeland MF</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Alkhunaizi+E%22">Alkhunaizi E</searchLink>; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Cowing+G%22">Cowing G</searchLink>; McMaster University Medical Center, Hamilton, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Li+C%22">Li C</searchLink>; McMaster University Medical Center, Hamilton, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Wortmann+SB%22">Wortmann SB</searchLink>; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboud UMC, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Feichtinger+RG%22">Feichtinger RG</searchLink>; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Mayr+JA%22">Mayr JA</searchLink>; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Gonorazky+H%22">Gonorazky H</searchLink>; Division of Neurology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Jing+G%22">Jing G</searchLink>; Department of Pediatric Neurology, West China Second University Hospital, Sichuan University, Chengdu, China.<br /><searchLink fieldCode="AU" term="%22Wang+X%22">Wang X</searchLink>; Cipher Gene Ltd., Beijing, China.<br /><searchLink fieldCode="AU" term="%22Wang+J%22">Wang J</searchLink>; Cipher Gene Ltd., Beijing, China.<br /><searchLink fieldCode="AU" term="%22Bierhals+T%22">Bierhals T</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Grinstein+L%22">Grinstein L</searchLink>; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Herget+T%22">Herget T</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Ruiz+A%22">Ruiz A</searchLink>; Genetics Laboratory, Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.<br /><searchLink fieldCode="AU" term="%22Gabau+E%22">Gabau E</searchLink>; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain.<br /><searchLink fieldCode="AU" term="%22Kampmeier+A%22">Kampmeier A</searchLink>; Institute of Human Genetics, University Medical Center Essen, University of Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Kassel+O%22">Kassel O</searchLink>; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany.<br /><searchLink fieldCode="AU" term="%22Kuechler+A%22">Kuechler A</searchLink>; Institute of Human Genetics, University Medical Center Essen, University of Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Platzer+K%22">Platzer K</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Jamra+RA%22">Jamra RA</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Woerner+A%22">Woerner A</searchLink>; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.<br /><searchLink fieldCode="AU" term="%22Idleburg+M%22">Idleburg M</searchLink>; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.<br /><searchLink fieldCode="AU" term="%22Kircher+SG%22">Kircher SG</searchLink>; Institute of Medical Genetics, Center of Pathobiochemistry and Genetics, Medical University of Vienna, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Laccone+F%22">Laccone F</searchLink>; Institute of Medical Genetics, Center of Pathobiochemistry and Genetics, Medical University of Vienna, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Golob+B%22">Golob B</searchLink>; Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia.<br /><searchLink fieldCode="AU" term="%22Peterlin+B%22">Peterlin B</searchLink>; Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia.<br /><searchLink fieldCode="AU" term="%22Čuturilo+G%22">Čuturilo G</searchLink>; University Children's Hospital Belgrade, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.<br /><searchLink fieldCode="AU" term="%22Tasic+V%22">Tasic V</searchLink>; University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia.<br /><searchLink fieldCode="AU" term="%22Kolvenbach+CM%22">Kolvenbach CM</searchLink>; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Hildebrandt+F%22">Hildebrandt F</searchLink>; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Ramos+LLP%22">Ramos LLP</searchLink>; Neurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo 01308-000, Brazil; Mendelics Genomic Analysis, Sao Paulo, Sao Paulo 04013-000, Brazil.<br /><searchLink fieldCode="AU" term="%22Kok+F%22">Kok F</searchLink>; Neurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo 01308-000, Brazil; Mendelics Genomic Analysis, Sao Paulo, Sao Paulo 04013-000, Brazil.<br /><searchLink fieldCode="AU" term="%22Buck+CB%22">Buck CB</searchLink>; School of Medicine, Anhembi Morumbi University, Piracicaba, Sao Paulo 13425-380, Brazil.<br /><searchLink fieldCode="AU" term="%22van+de+Laar+IMBH%22">van de Laar IMBH</searchLink>; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Man+SA%22">de Man SA</searchLink>; Department of Pediatrics, Amphia Hospital, Breda, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Taşdelen+E%22">Taşdelen E</searchLink>; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Türkiye.<br /><searchLink fieldCode="AU" term="%22Sezer+A%22">Sezer A</searchLink>; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Türkiye.<br /><searchLink fieldCode="AU" term="%22Büke+A%22">Büke A</searchLink>; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Türkiye.<br /><searchLink fieldCode="AU" term="%22Yavuz+Z%22">Yavuz Z</searchLink>; Department of Neurology, Ankara Etlik City Hospital, Ankara, Türkiye.<br /><searchLink fieldCode="AU" term="%22Çomoğlu+SS%22">Çomoğlu SS</searchLink>; Department of Neurology, Ankara Etlik City Hospital, Ankara, Türkiye.<br /><searchLink fieldCode="AU" term="%22Costin+C%22">Costin C</searchLink>; Genetic Center, Akron Children's Hospital, Akron, OH, USA.<br /><searchLink fieldCode="AU" term="%22Tran+Mau+Them+F%22">Tran Mau Them F</searchLink>; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France; INSERM UMR1231 GAD, 21000 Dijon, France.<br /><searchLink fieldCode="AU" term="%22Lacaze+E%22">Lacaze E</searchLink>; Department of Medical Genetics, Le Havre Hospital, Le Havre, France.<br /><searchLink fieldCode="AU" term="%22Courtin+T%22">Courtin T</searchLink>; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Héron+D%22">Héron D</searchLink>; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Whalen+S%22">Whalen S</searchLink>; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Roume+J%22">Roume J</searchLink>; Department of Clinical Genetics, Centre de Référence 'AnDDI Rares', Poissy Hospital GHU PIFO, Poissy, France.<br /><searchLink fieldCode="AU" term="%22Yang+Y%22">Yang Y</searchLink>; Department of Cancer Genetics and Epigenetics, Beckman Research Institute, City of Hope Cancer Center, Duarte, CA, USA.<br /><searchLink fieldCode="AU" term="%22Hoffer+MJV%22">Hoffer MJV</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Haeringen+A%22">van Haeringen A</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Najmabadi+H%22">Najmabadi H</searchLink>; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Arrowsmith+CH%22">Arrowsmith CH</searchLink>; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada; Princess Margaret Cancer Centre and Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 2M9, Canada.<br /><searchLink fieldCode="AU" term="%22Strähle+U%22">Strähle U</searchLink>; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany; Centre for Organismal Studies (COS), University of Heidelberg, Im Neuenheimer Feld 223, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Dollfus+H%22">Dollfus H</searchLink>; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Centre de Référence pour les affections rares en génétique ophtalmologique (CARGO), Filière SENSGENE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address: dollfus@unistra.fr.<br /><searchLink fieldCode="AU" term="%22Muller+J%22">Muller J</searchLink>; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada; Unité Fonctionnelle de Bioinformatique Médicale appliquée au diagnostic (UF7363), Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address: jeanmuller@unistra.fr.
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  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2025 Dec 04; Vol. 112 (12), pp. 2943-2960. <i>Date of Electronic Publication: </i>2025 Nov 18.
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  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
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