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Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

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Title: Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.
Authors: El Hayek L; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Gogate A; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Chen WC; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Kaur K; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., De Wachter M; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Van Schil K; Centre for Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Dublin-Ryan L; The Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH 43205, USA., Zamani M; Department of Neuromuscular Diseases, University College London, Queen Square Institute of Neurology, London, UK., Bartos MN; The University of Alabama at Birmingham, Birmingham, AL 35294, USA., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Courdier C; Université de Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Genetique Medicale, 33000 Bordeaux, France., Michaud V; Université de Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Genetique Medicale, 33000 Bordeaux, France., Kenny J; Children's Health Ireland, Royal College of Surgeons in Ireland, Trinity College, Dublin, Ireland., Day M; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Pang L; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Nasab ME; Pishgaman Gene Fanavaran Nasle Jadid Co., Yazd Science and Technology Park, Yazd, Iran., Madani Manshadi SA; Pishgaman Gene Fanavaran Nasle Jadid Co., Yazd Science and Technology Park, Yazd, Iran; Department of Biology, Yazd University, Yazd, Iran., Eslahi A; Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Rasoul MA; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Genetic Center of Khorasan Razavi, Mashhad, Iran., Sanchez-Mendoza EH; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany., DeLuca C; Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, MI 48201, USA., Marafi D; Department of Pediatrics, Faculty of Medicine, Kuwait University, P.O. Box 24923, Safat 13110 Kuwait; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat 80901, Kuwait., Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Centre, P. Debyelaan 25, 6229 HX Maastricht, the Netherlands., Ivanovski I; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Frey T; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland; University Children's Hospital Zurich, Zurich, Switzerland; University of Zurich Research Priority Program, ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Zurich, Switzerland., O'Connor K; Department of Pediatrics, Robert Wood Johnson Medical School, Rutgers University, New Brunswick, NJ 08901, USA., Velinov M; Department of Pediatrics, Robert Wood Johnson Medical School, Rutgers University, New Brunswick, NJ 08901, USA., Shen X; GeneDx, LLC, Gaithersburg, MD 20877, USA., Janssen EJM; Department of Pediatrics, MosaKids Children's Hospital, Maastricht University Medical Centre, P. Debyelaan 25, 6229 HX Maastricht, the Netherlands., Sedighzadeh S; Dr. Shahrooei Laboratory, Tehran, Iran., Kordi-Tamandani DM; Department of Biology, University of Sistan and Baluchestan, Zahedan, Iran., Khajeh A; Children and Adolescent Health Research Center, School of Medicine, Resistant Tuberculosis Institute, Zahedan University of Medical Sciences, Zahedan, Iran., Elshafie RM; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat 80901, Kuwait., Bastaki L; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat 80901, Kuwait., Misra VK; Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, MI 48201, USA; Discipline of Pediatrics, Central Michigan University School of Medicine, Mount Pleasant, MI 48859, USA., Firoozfar Z; Palindrome, Isfahan, Iran., Goldenberg PC; Massachusetts General Hospital, Medical Genetics, Harvard Medical School, Boston, MA 02114, USA., Toosi MB; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran; Neuroscience Research Center, Mashhad University of Medical Science, Mashhad, Iran., Mojarrad M; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Kavanagh K; Children's Health Ireland, University College Dublin, Dublin, Ireland., Koboldt DC; The Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH 43205, USA; Department of Pediatrics, College of Medicine, Ohio State University, Columbus, OH 43210, USA., Margot H; Université de Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Genetique Medicale, 33000 Bordeaux, France., Hurst ACE; The University of Alabama at Birmingham, Birmingham, AL 35294, USA., Weber A; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany; Center for Human Genetics, University of Marburg, Marburg, Germany., Bergmann C; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany., Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square Institute of Neurology, London, UK., Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square Institute of Neurology, London, UK., Weis D; Department of Medical Genetics, Kepler University Hospital Medical Campus IV, Johannes Kepler University Linz, Linz, Austria., Ceulemans B; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Chahrour MH; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Psychiatry, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Peter O'Donnell Jr. Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address: maria.chahrour@utsouthwestern.edu.
Source: HGG advances [HGG Adv] 2026 Jul 09; Vol. 7 (3), pp. 100594. Date of Electronic Publication: 2026 Mar 26.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.
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  Data: <searchLink fieldCode="AU" term="%22El+Hayek+L%22">El Hayek L</searchLink>; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.<br /><searchLink fieldCode="AU" term="%22Gogate+A%22">Gogate A</searchLink>; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.<br /><searchLink fieldCode="AU" term="%22Chen+WC%22">Chen WC</searchLink>; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.<br /><searchLink fieldCode="AU" term="%22Kaur+K%22">Kaur K</searchLink>; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.<br /><searchLink fieldCode="AU" term="%22Zaki+MS%22">Zaki MS</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.<br /><searchLink fieldCode="AU" term="%22De+Wachter+M%22">De Wachter M</searchLink>; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.<br /><searchLink fieldCode="AU" term="%22Van+Schil+K%22">Van Schil K</searchLink>; Centre for Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.<br /><searchLink fieldCode="AU" term="%22Dublin-Ryan+L%22">Dublin-Ryan L</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH 43205, USA.<br /><searchLink fieldCode="AU" term="%22Zamani+M%22">Zamani M</searchLink>; Department of Neuromuscular Diseases, University College London, Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Bartos+MN%22">Bartos MN</searchLink>; The University of Alabama at Birmingham, Birmingham, AL 35294, USA.<br /><searchLink fieldCode="AU" term="%22Hiatt+SM%22">Hiatt SM</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.<br /><searchLink fieldCode="AU" term="%22Courdier+C%22">Courdier C</searchLink>; Université de Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Genetique Medicale, 33000 Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Michaud+V%22">Michaud V</searchLink>; Université de Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Genetique Medicale, 33000 Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Kenny+J%22">Kenny J</searchLink>; Children's Health Ireland, Royal College of Surgeons in Ireland, Trinity College, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Day+M%22">Day M</searchLink>; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Pang+L%22">Pang L</searchLink>; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Nasab+ME%22">Nasab ME</searchLink>; Pishgaman Gene Fanavaran Nasle Jadid Co., Yazd Science and Technology Park, Yazd, Iran.<br /><searchLink fieldCode="AU" term="%22Madani+Manshadi+SA%22">Madani Manshadi SA</searchLink>; Pishgaman Gene Fanavaran Nasle Jadid Co., Yazd Science and Technology Park, Yazd, Iran; Department of Biology, Yazd University, Yazd, Iran.<br /><searchLink fieldCode="AU" term="%22Eslahi+A%22">Eslahi A</searchLink>; Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.<br /><searchLink fieldCode="AU" term="%22Rasoul+MA%22">Rasoul MA</searchLink>; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Genetic Center of Khorasan Razavi, Mashhad, Iran.<br /><searchLink fieldCode="AU" term="%22Sanchez-Mendoza+EH%22">Sanchez-Mendoza EH</searchLink>; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany.<br /><searchLink fieldCode="AU" term="%22DeLuca+C%22">DeLuca C</searchLink>; Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, MI 48201, USA.<br /><searchLink fieldCode="AU" term="%22Marafi+D%22">Marafi D</searchLink>; Department of Pediatrics, Faculty of Medicine, Kuwait University, P.O. 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Electronic address: maria.chahrour@utsouthwestern.edu.
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          Name:
            NameFull: Bergmann C
      – PersonEntity:
          Name:
            NameFull: Houlden H
      – PersonEntity:
          Name:
            NameFull: Maroofian R
      – PersonEntity:
          Name:
            NameFull: Weis D
      – PersonEntity:
          Name:
            NameFull: Ceulemans B
      – PersonEntity:
          Name:
            NameFull: Chahrour MH
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 09
              M: 07
              Text: 2026 Jul 09
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 2666-2477
          Numbering:
            – Type: volume
              Value: 7
            – Type: issue
              Value: 3
          Titles:
            – TitleFull: HGG advances
              Type: main
ResultId 1