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Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.

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Title: Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.
Authors: Galassi Deforie V; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, United Kingdom., Maroofian R; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, United Kingdom. Electronic address: r.maroofian@ucl.ac.uk., Karagoz I; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, United Kingdom., Godwin A; European Xenopus Resource Centre, School of the Environment and Life Sciences, University of Portsmouth, Portsmouth, United Kingdom., Al Sheikh E; Lydia Becker Institute of Immunology and Inflammation, University of Manchester, Manchester, United Kingdom., Gestri G; Department of Cell and Developmental Biology, University College London, Gower Street, London, United Kingdom., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Woodward BL; Institute of Cancer and Genomic Sciences, College of Medicine and Health, University of Birmingham, Birmingham, United Kingdom., Ghorab RM; Department of Immunogenetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Alvi JR; Department of Pediatric Neurology, University of Child Health Sciences, The Children's Hospital Lahore, Lahore, Pakistan., Alabdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Damseh N; Department of Pediatrics, Al Makassed Hospital and Al-Quds University, Jerusalem, Palestine., Elshafie RM; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait., Scardamaglia A; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, United Kingdom., Alves C; Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA., Shaikh M; Department of Cell and Developmental Biology, University College London, Gower Street, London, United Kingdom., Özcan GG; Department of Cell and Developmental Biology, University College London, Gower Street, London, United Kingdom., Sadek AA; Pediatric Neurology Unit, Department of Pediatrics, Sohag University, Sohag, Egypt., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom., Murphy D; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, United Kingdom., Ashhab M; Department of Pediatrics, Al Makassed Hospital and Al-Quds University, Jerusalem, Palestine., de la Fuente RP; Department of Genetics, '12 de Octubre' University Hospital, Madrid, Spain; Dysmorphology and Genetics Unit (UDISGEN), '12 de Octubre' University Hospital, Madrid, Spain; '12 de Octubre' Hospital Research Institute (imas12), Madrid, Spain., Arteche-López A; Department of Genetics, '12 de Octubre' University Hospital, Madrid, Spain; Dysmorphology and Genetics Unit (UDISGEN), '12 de Octubre' University Hospital, Madrid, Spain; '12 de Octubre' Hospital Research Institute (imas12), Madrid, Spain., Hashem MO; Department of Translational Genomics, Genomic Medicine Centre of Excellence (GMCoE), King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Aboelanine AH; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait., Alkhawaja IA; Albashir Hospital, Amman, Jordan., Ibrahim S; Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan., van der Burg M; Willem-Alexander Children's Hospital, Department of Pediatrics, Laboratory for Pediatric Immunology, Leiden University Medical Center, Leiden, The Netherlands., Berghuis D; Division of Pediatric Immunology and Stem Cell Transplantation, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands., Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Toosi MB; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Alerasool M; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Genetic Foundation of Khorasan Razavi, Mashhad, Iran., Eslahi A; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Trollmann R; Department of Pediatrics and Adolescent Medicine, Pediatric Neurology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), University Hospital Erlangen, Erlangen, Germany., Pauly M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Salpietro V; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy; European Brain Research Institute (EBRI), Rome, Italy., Al-Herz W; Department of Pediatrics, College of Medicine, Kuwait University, Safat, Kuwait., Carter SP; Department of Cell and Developmental Biology, University College London, Gower Street, London, United Kingdom., Briggs TA; Lydia Becker Institute of Immunology and Inflammation, University of Manchester, Manchester, United Kingdom., Hussell T; Lydia Becker Institute of Immunology and Inflammation, University of Manchester, Manchester, United Kingdom., Ruuska-Loewald T; Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland; Department of Children and Adolescents, Medical Research Center, Oulu University Hospital, Biocenter Oulu, University of Oulu, Oulu, Finland., Komulainen-Ebrahim J; Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland; Division of Pediatric Neurology, Department of Children and Adolescents, Medical Research Center, Oulu University Hospital, Oulu, Finland., Uusimaa J; Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland; Division of Pediatric Neurology, Department of Children and Adolescents, Medical Research Center, Oulu University Hospital, Oulu, Finland., Hautala T; Research Unit of Internal Medicine and Biomedicine, University of Oulu, Oulu, Finland; ERN-RITA Core Center Member, RITAFIN Consortium, Infectious Diseases Clinic, Oulu University Hospital, Oulu, Finland., Potluri S; Institute of Cancer and Genomic Sciences, College of Medicine and Health, University of Birmingham, Birmingham, United Kingdom; Department of Pediatric Hematology, Birmingham Children's Hospital, Birmingham, United Kingdom., Shackley F; Pediatric Immunology, Allergy and Infectious Diseases, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, United Kingdom., 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., Chung WK; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA., Wilson SW; Department of Cell and Developmental Biology, University College London, Gower Street, London, United Kingdom., Sultan T; Department of Pediatric Neurology, University of Child Health Sciences, The Children's Hospital Lahore, Lahore, Pakistan., Gleeson JG; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, University of California San Diego, San Diego, CA., Marafi D; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait; Department of Pediatrics, College of Medicine, Kuwait University, Safat, Kuwait., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Stewart GS; Institute of Cancer and Genomic Sciences, College of Medicine and Health, University of Birmingham, Birmingham, United Kingdom., Efthymiou S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, United Kingdom., Guille M; European Xenopus Resource Centre, School of the Environment and Life Sciences, University of Portsmouth, Portsmouth, United Kingdom., Arkwright PD; Lydia Becker Institute of Immunology and Inflammation, University of Manchester, Manchester, United Kingdom., Houlden H; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, United Kingdom. Electronic address: h.houlden@ucl.ac.uk.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 May; Vol. 28 (5), pp. 102551. Date of Electronic Publication: 2026 Mar 17.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.
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  Data: <searchLink fieldCode="AU" term="%22Galassi+Deforie+V%22">Galassi Deforie V</searchLink>; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Maroofian+R%22">Maroofian R</searchLink>; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, United Kingdom. Electronic address: r.maroofian@ucl.ac.uk.<br /><searchLink fieldCode="AU" term="%22Karagoz+I%22">Karagoz I</searchLink>; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Godwin+A%22">Godwin A</searchLink>; European Xenopus Resource Centre, School of the Environment and Life Sciences, University of Portsmouth, Portsmouth, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Al+Sheikh+E%22">Al Sheikh E</searchLink>; Lydia Becker Institute of Immunology and Inflammation, University of Manchester, Manchester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Gestri+G%22">Gestri G</searchLink>; Department of Cell and Developmental Biology, University College London, Gower Street, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Zaki+MS%22">Zaki MS</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Woodward+BL%22">Woodward BL</searchLink>; Institute of Cancer and Genomic Sciences, College of Medicine and Health, University of Birmingham, Birmingham, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ghorab+RM%22">Ghorab RM</searchLink>; Department of Immunogenetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Alvi+JR%22">Alvi JR</searchLink>; Department of Pediatric Neurology, University of Child Health Sciences, The Children's Hospital Lahore, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22Alabdi+L%22">Alabdi L</searchLink>; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Damseh+N%22">Damseh N</searchLink>; Department of Pediatrics, Al Makassed Hospital and Al-Quds University, Jerusalem, Palestine.<br /><searchLink fieldCode="AU" term="%22Elshafie+RM%22">Elshafie RM</searchLink>; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.<br /><searchLink fieldCode="AU" term="%22Scardamaglia+A%22">Scardamaglia A</searchLink>; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Alves+C%22">Alves C</searchLink>; Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Shaikh+M%22">Shaikh M</searchLink>; Department of Cell and Developmental Biology, University College London, Gower Street, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Özcan+GG%22">Özcan GG</searchLink>; Department of Cell and Developmental Biology, University College London, Gower Street, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Sadek+AA%22">Sadek AA</searchLink>; Pediatric Neurology Unit, Department of Pediatrics, Sohag University, Sohag, Egypt.<br /><searchLink fieldCode="AU" term="%22Issa+MY%22">Issa MY</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Striano+P%22">Striano P</searchLink>; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Suri+M%22">Suri M</searchLink>; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Murphy+D%22">Murphy D</searchLink>; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ashhab+M%22">Ashhab M</searchLink>; Department of Pediatrics, Al Makassed Hospital and Al-Quds University, Jerusalem, Palestine.<br /><searchLink fieldCode="AU" term="%22de+la+Fuente+RP%22">de la Fuente RP</searchLink>; Department of Genetics, '12 de Octubre' University Hospital, Madrid, Spain; Dysmorphology and Genetics Unit (UDISGEN), '12 de Octubre' University Hospital, Madrid, Spain; '12 de Octubre' Hospital Research Institute (imas12), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Arteche-López+A%22">Arteche-López A</searchLink>; Department of Genetics, '12 de Octubre' University Hospital, Madrid, Spain; Dysmorphology and Genetics Unit (UDISGEN), '12 de Octubre' University Hospital, Madrid, Spain; '12 de Octubre' Hospital Research Institute (imas12), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Hashem+MO%22">Hashem MO</searchLink>; Department of Translational Genomics, Genomic Medicine Centre of Excellence (GMCoE), King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Abdulwahab+F%22">Abdulwahab F</searchLink>; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Aboelanine+AH%22">Aboelanine AH</searchLink>; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.<br /><searchLink fieldCode="AU" term="%22Alkhawaja+IA%22">Alkhawaja IA</searchLink>; Albashir Hospital, Amman, Jordan.<br /><searchLink fieldCode="AU" term="%22Ibrahim+S%22">Ibrahim S</searchLink>; Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22van+der+Burg+M%22">van der Burg M</searchLink>; Willem-Alexander Children's Hospital, Department of Pediatrics, Laboratory for Pediatric Immunology, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Berghuis+D%22">Berghuis D</searchLink>; Division of Pediatric Immunology and Stem Cell Transplantation, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Santen+GW%22">Santen GW</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Toosi+MB%22">Toosi MB</searchLink>; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.<br /><searchLink fieldCode="AU" term="%22Alerasool+M%22">Alerasool M</searchLink>; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Genetic Foundation of Khorasan Razavi, Mashhad, Iran.<br /><searchLink fieldCode="AU" term="%22Eslahi+A%22">Eslahi A</searchLink>; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.<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="%22Gowda+VK%22">Gowda VK</searchLink>; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Trollmann+R%22">Trollmann R</searchLink>; Department of Pediatrics and Adolescent Medicine, Pediatric Neurology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Vasileiou+G%22">Vasileiou G</searchLink>; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), University Hospital Erlangen, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Pauly+M%22">Pauly M</searchLink>; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Hashemi-Gorji+F%22">Hashemi-Gorji F</searchLink>; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Miryounesi+M%22">Miryounesi M</searchLink>; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Salpietro+V%22">Salpietro V</searchLink>; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy; European Brain Research Institute (EBRI), Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Al-Herz+W%22">Al-Herz W</searchLink>; Department of Pediatrics, College of Medicine, Kuwait University, Safat, Kuwait.<br /><searchLink fieldCode="AU" term="%22Carter+SP%22">Carter SP</searchLink>; Department of Cell and Developmental Biology, University College London, Gower Street, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Briggs+TA%22">Briggs TA</searchLink>; Lydia Becker Institute of Immunology and Inflammation, University of Manchester, Manchester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hussell+T%22">Hussell T</searchLink>; Lydia Becker Institute of Immunology and Inflammation, University of Manchester, Manchester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ruuska-Loewald+T%22">Ruuska-Loewald T</searchLink>; Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland; Department of Children and Adolescents, Medical Research Center, Oulu University Hospital, Biocenter Oulu, University of Oulu, Oulu, Finland.<br /><searchLink fieldCode="AU" term="%22Komulainen-Ebrahim+J%22">Komulainen-Ebrahim J</searchLink>; Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland; Division of Pediatric Neurology, Department of Children and Adolescents, Medical Research Center, Oulu University Hospital, Oulu, Finland.<br /><searchLink fieldCode="AU" term="%22Uusimaa+J%22">Uusimaa J</searchLink>; Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland; Division of Pediatric Neurology, Department of Children and Adolescents, Medical Research Center, Oulu University Hospital, Oulu, Finland.<br /><searchLink fieldCode="AU" term="%22Hautala+T%22">Hautala T</searchLink>; Research Unit of Internal Medicine and Biomedicine, University of Oulu, Oulu, Finland; ERN-RITA Core Center Member, RITAFIN Consortium, Infectious Diseases Clinic, Oulu University Hospital, Oulu, Finland.<br /><searchLink fieldCode="AU" term="%22Potluri+S%22">Potluri S</searchLink>; Institute of Cancer and Genomic Sciences, College of Medicine and Health, University of Birmingham, Birmingham, United Kingdom; Department of Pediatric Hematology, Birmingham Children's Hospital, Birmingham, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Shackley+F%22">Shackley F</searchLink>; Pediatric Immunology, Allergy and Infectious Diseases, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Mojarrad+M%22">Mojarrad M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Chung+WK%22">Chung WK</searchLink>; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Wilson+SW%22">Wilson SW</searchLink>; Department of Cell and Developmental Biology, University College London, Gower Street, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Sultan+T%22">Sultan T</searchLink>; Department of Pediatric Neurology, University of Child Health Sciences, The Children's Hospital Lahore, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22Gleeson+JG%22">Gleeson JG</searchLink>; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, University of California San Diego, San Diego, CA.<br /><searchLink fieldCode="AU" term="%22Marafi+D%22">Marafi D</searchLink>; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait; Department of Pediatrics, College of Medicine, Kuwait University, Safat, Kuwait.<br /><searchLink fieldCode="AU" term="%22Alkuraya+FS%22">Alkuraya FS</searchLink>; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Stewart+GS%22">Stewart GS</searchLink>; Institute of Cancer and Genomic Sciences, College of Medicine and Health, University of Birmingham, Birmingham, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Guille+M%22">Guille M</searchLink>; European Xenopus Resource Centre, School of the Environment and Life Sciences, University of Portsmouth, Portsmouth, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Arkwright+PD%22">Arkwright PD</searchLink>; Lydia Becker Institute of Immunology and Inflammation, University of Manchester, Manchester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, United Kingdom. Electronic address: h.houlden@ucl.ac.uk.
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2026 May; Vol. 28 (5), pp. 102551. <i>Date of Electronic Publication: </i>2026 Mar 17.
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      – TitleFull: Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.
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          Dates:
            – D: 01
              M: 05
              Text: 2026 May
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1530-0366
          Numbering:
            – Type: volume
              Value: 28
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics
              Type: main
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