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MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

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Title: MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.
Authors: Gong M; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China; The Ninth Medical Center of PLA General Hospital, Beijing, China., Li J; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China; Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China., Qin Z; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China., Machado Bressan Wilke MV; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Liu Y; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China; Savaid Medical School, University of Chinese Academy of Sciences, Beijing, China., Li Q; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China; Savaid Medical School, University of Chinese Academy of Sciences, Beijing, China., Liu H; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China., Liang C; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China., Morales-Rosado JA; Department of Pathology, Microbiology & Immunology, Vanderbilt University Medical Center, Nashville, TN, USA., Cohen ASA; Department of Pathology and Laboratory Medicine, Genomic Medicine Center, Children's Mercy-Kansas City, Kansas City, MO, USA; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA., Hughes SS; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA., Sullivan BR; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA., Waddell V; Department of Neurology, Children's Mercy Kansas City, Kansas City, MO, USA., van den Boogaard MH; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., van Gassen KL; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., Wang T; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Autism Research Center, Peking University Health Science Center, Beijing, China; Neuroscience Research Institute, Peking University, Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Amaral MD; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Zhao J; Department of Neurology Beijing Children's Hospital, Capital Medical University, Beijing, China., Feng W; Department of Neurology Beijing Children's Hospital, Capital Medical University, Beijing, China., Ren C; Department of Neurology Beijing Children's Hospital, Capital Medical University, Beijing, China., Yu Y; Department of Pediatrics, Beijing Tiantan Hospital affiliated with Capital University of Medical Sciences, Beijing, China., Boczek NJ; Department of Laboratory Medicine and Pathology, Genomics Laboratory, Mayo Clinic, Rochester, MN, USA., Ferber MJ; Department of Laboratory Medicine and Pathology, Genomics Laboratory, Mayo Clinic, Rochester, MN, USA., Lahner C; Department of Laboratory Medicine and Pathology, Genomics Laboratory, Mayo Clinic, Rochester, MN, USA., Elliott S; Departments of Neurology and Pediatrics, Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Ruan Y; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China., Mignot C; APHP Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière et Hôpital Trousseau, Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Keren B; APHP Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière et Hôpital Trousseau, Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Xie H; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China., Wang X; Department of Children's Nutrition Research Center, Affiliated Children's Hospital of Capital Institute of Pediatrics, Beijing, China., Popp B; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany; Berlin Institute of Health at Charité-Universitäts medizin Berlin, Center of Functional Genomics, Hessische Straße 4A, Berlin, Germany., Zweier C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander Universität Erlangen-Nürnberg, Erlangen, Germany., Piard J; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France., Coubes C; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée Hôpital Arnaud de Villeneuve, 34295 Montpellier Cedex, Dijon, France., Mau-Them FT; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, Dijon, France; Inserm UMR1231 GAD, 21000 Dijon, France., Safraou H; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, Dijon, France; Inserm UMR1231 GAD, 21000 Dijon, France., Innes AM; Department of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Gauthier J; Molecular Diagnostic Laboratory, Centre Hospitalier Universitaire Sainte-Justine, Montréal, QC, Canada; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada., Michaud JL; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada; CHU Sainte-Justine Research Center, Montreal, QC, Canada., Koboldt DC; The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Sylvie O; Service de Génétique clinique, CHU Rennes, ERN ITHACA, Rennes, France; University Rennes, CNRS, INSERM, IGDR (Institut de Génétique et développement de Rennes), UMR 6290, ERL U1305, Rennes, France., Willems M; Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Inserm U1298, INM, Montpellier University, Centre Hospitalier Universitaire de Montpellier, Montpellier, France., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Cogne B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Rieubland C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., McLean SD; Division of Clinical Genetics, The Children's Hospital of San Antonio, San Antonio, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Zacher P; Epilepsy Center Kleinwachau, Dresden-Radeberg, Germany., Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Evenepoel L; Centre de Génétique Humaine, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Avenue Hippocrate 10-1200, Brussels, Belgium., Blanc P; Sorbonne Université, Department of Medical Genetics, APHP, Pitié-Salpêtrière hospital, Paris Brain Institute-ICM, Laboratoire SeqOIA-PFMG2025, Paris, France., El Khattabi L; Department of Medical Genetics, APHP, Armand Trousseau and Pitié-Salpêtrière hospitals, Brain Development team, Paris Brain Institute-ICM, Sorbonne Université, Paris, France; Laboratoire SeqOIA-PFMG2025, Paris, France., Haque N; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA., Dsouza NR; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA., Zimmermann MT; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA., Urrutia R; Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA., Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA., Shen Y; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; SynerGene Education, Hejun College, Huichang Jiangxi, China., Du H; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China., Rappaport L; Division of Developmental Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Liu CM; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China; Savaid Medical School, University of Chinese Academy of Sciences, Beijing, China. Electronic address: liuchm@ioz.ac.cn., Chen X; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China; Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China. Electronic address: xiaolichen@pumc.edu.cn.
Source: American journal of human genetics [Am J Hum Genet] 2024 Nov 07; Vol. 111 (11), pp. 2392-2410. Date of Electronic Publication: 2024 Oct 16.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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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PubTypeId: academicJournal
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Items – Name: Title
  Label: Title
  Group: Ti
  Data: MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Gong+M%22">Gong M</searchLink>; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China; The Ninth Medical Center of PLA General Hospital, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Li+J%22">Li J</searchLink>; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China; Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Qin+Z%22">Qin Z</searchLink>; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.<br /><searchLink fieldCode="AU" term="%22Machado+Bressan+Wilke+MV%22">Machado Bressan Wilke MV</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Liu+Y%22">Liu Y</searchLink>; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China; Savaid Medical School, University of Chinese Academy of Sciences, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Li+Q%22">Li Q</searchLink>; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China; Savaid Medical School, University of Chinese Academy of Sciences, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Liu+H%22">Liu H</searchLink>; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Liang+C%22">Liang C</searchLink>; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Morales-Rosado+JA%22">Morales-Rosado JA</searchLink>; Department of Pathology, Microbiology & Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Cohen+ASA%22">Cohen ASA</searchLink>; Department of Pathology and Laboratory Medicine, Genomic Medicine Center, Children's Mercy-Kansas City, Kansas City, MO, USA; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.<br /><searchLink fieldCode="AU" term="%22Hughes+SS%22">Hughes SS</searchLink>; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.<br /><searchLink fieldCode="AU" term="%22Sullivan+BR%22">Sullivan BR</searchLink>; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.<br /><searchLink fieldCode="AU" term="%22Waddell+V%22">Waddell V</searchLink>; Department of Neurology, Children's Mercy Kansas City, Kansas City, MO, USA.<br /><searchLink fieldCode="AU" term="%22van+den+Boogaard+MH%22">van den Boogaard MH</searchLink>; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Jaarsveld+RH%22">van Jaarsveld RH</searchLink>; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Binsbergen+E%22">van Binsbergen E</searchLink>; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Gassen+KL%22">van Gassen KL</searchLink>; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Wang+T%22">Wang T</searchLink>; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Autism Research Center, Peking University Health Science Center, Beijing, China; Neuroscience Research Institute, Peking University, Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Hiatt+SM%22">Hiatt SM</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.<br /><searchLink fieldCode="AU" term="%22Amaral+MD%22">Amaral MD</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.<br /><searchLink fieldCode="AU" term="%22Kelley+WV%22">Kelley WV</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.<br /><searchLink fieldCode="AU" term="%22Zhao+J%22">Zhao J</searchLink>; Department of Neurology Beijing Children's Hospital, Capital Medical University, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Feng+W%22">Feng W</searchLink>; Department of Neurology Beijing Children's Hospital, Capital Medical University, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Ren+C%22">Ren C</searchLink>; Department of Neurology Beijing Children's Hospital, Capital Medical University, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Yu+Y%22">Yu Y</searchLink>; Department of Pediatrics, Beijing Tiantan Hospital affiliated with Capital University of Medical Sciences, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Boczek+NJ%22">Boczek NJ</searchLink>; Department of Laboratory Medicine and Pathology, Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Ferber+MJ%22">Ferber MJ</searchLink>; Department of Laboratory Medicine and Pathology, Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Lahner+C%22">Lahner C</searchLink>; Department of Laboratory Medicine and Pathology, Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Elliott+S%22">Elliott S</searchLink>; Departments of Neurology and Pediatrics, Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Ruan+Y%22">Ruan Y</searchLink>; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.<br /><searchLink fieldCode="AU" term="%22Mignot+C%22">Mignot C</searchLink>; APHP Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière et Hôpital Trousseau, Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; APHP Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière et Hôpital Trousseau, Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.<br /><searchLink fieldCode="AU" term="%22Xie+H%22">Xie H</searchLink>; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Wang+X%22">Wang X</searchLink>; Department of Children's Nutrition Research Center, Affiliated Children's Hospital of Capital Institute of Pediatrics, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Popp+B%22">Popp B</searchLink>; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany; Berlin Institute of Health at Charité-Universitäts medizin Berlin, Center of Functional Genomics, Hessische Straße 4A, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Zweier+C%22">Zweier C</searchLink>; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Piard+J%22">Piard J</searchLink>; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Coubes+C%22">Coubes C</searchLink>; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée Hôpital Arnaud de Villeneuve, 34295 Montpellier Cedex, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Mau-Them+FT%22">Mau-Them FT</searchLink>; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, Dijon, France; Inserm UMR1231 GAD, 21000 Dijon, France.<br /><searchLink fieldCode="AU" term="%22Safraou+H%22">Safraou H</searchLink>; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, Dijon, France; Inserm UMR1231 GAD, 21000 Dijon, France.<br /><searchLink fieldCode="AU" term="%22Innes+AM%22">Innes AM</searchLink>; Department of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Gauthier+J%22">Gauthier J</searchLink>; Molecular Diagnostic Laboratory, Centre Hospitalier Universitaire Sainte-Justine, Montréal, QC, Canada; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Michaud+JL%22">Michaud JL</searchLink>; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada; CHU Sainte-Justine Research Center, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Koboldt+DC%22">Koboldt DC</searchLink>; The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Sylvie+O%22">Sylvie O</searchLink>; Service de Génétique clinique, CHU Rennes, ERN ITHACA, Rennes, France; University Rennes, CNRS, INSERM, IGDR (Institut de Génétique et développement de Rennes), UMR 6290, ERL U1305, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Willems+M%22">Willems M</searchLink>; Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Inserm U1298, INM, Montpellier University, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Tan+WH%22">Tan WH</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Cogne+B%22">Cogne B</searchLink>; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Rieubland+C%22">Rieubland C</searchLink>; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.<br /><searchLink fieldCode="AU" term="%22Braun+D%22">Braun D</searchLink>; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.<br /><searchLink fieldCode="AU" term="%22McLean+SD%22">McLean SD</searchLink>; Division of Clinical Genetics, The Children's Hospital of San Antonio, San Antonio, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<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="%22Zacher+P%22">Zacher P</searchLink>; Epilepsy Center Kleinwachau, Dresden-Radeberg, Germany.<br /><searchLink fieldCode="AU" term="%22Oppermann+H%22">Oppermann H</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Evenepoel+L%22">Evenepoel L</searchLink>; Centre de Génétique Humaine, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Avenue Hippocrate 10-1200, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Blanc+P%22">Blanc P</searchLink>; Sorbonne Université, Department of Medical Genetics, APHP, Pitié-Salpêtrière hospital, Paris Brain Institute-ICM, Laboratoire SeqOIA-PFMG2025, Paris, France.<br /><searchLink fieldCode="AU" term="%22El+Khattabi+L%22">El Khattabi L</searchLink>; Department of Medical Genetics, APHP, Armand Trousseau and Pitié-Salpêtrière hospitals, Brain Development team, Paris Brain Institute-ICM, Sorbonne Université, Paris, France; Laboratoire SeqOIA-PFMG2025, Paris, France.<br /><searchLink fieldCode="AU" term="%22Haque+N%22">Haque N</searchLink>; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.<br /><searchLink fieldCode="AU" term="%22Dsouza+NR%22">Dsouza NR</searchLink>; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.<br /><searchLink fieldCode="AU" term="%22Zimmermann+MT%22">Zimmermann MT</searchLink>; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA.<br /><searchLink fieldCode="AU" term="%22Urrutia+R%22">Urrutia R</searchLink>; Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.<br /><searchLink fieldCode="AU" term="%22Klee+EW%22">Klee EW</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Shen+Y%22">Shen Y</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; SynerGene Education, Hejun College, Huichang Jiangxi, China.<br /><searchLink fieldCode="AU" term="%22Du+H%22">Du H</searchLink>; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Rappaport+L%22">Rappaport L</searchLink>; Division of Developmental Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Liu+CM%22">Liu CM</searchLink>; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China; Savaid Medical School, University of Chinese Academy of Sciences, Beijing, China. Electronic address: liuchm@ioz.ac.cn.<br /><searchLink fieldCode="AU" term="%22Chen+X%22">Chen X</searchLink>; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China; Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China. Electronic address: xiaolichen@pumc.edu.cn.
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  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2024 Nov 07; Vol. 111 (11), pp. 2392-2410. <i>Date of Electronic Publication: </i>2024 Oct 16.
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  Data: Journal Article; Research Support, Non-U.S. Gov't
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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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        Value: 10.1016/j.ajhg.2024.09.006
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        StartPage: 2392
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      – TitleFull: MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.
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            – D: 07
              M: 11
              Text: 2024 Nov 07
              Type: published
              Y: 2024
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              Value: 1537-6605
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              Value: 111
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              Value: 11
          Titles:
            – TitleFull: American journal of human genetics
              Type: main
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