View in EDS

A clinical and genotype-phenotype analysis of MACF1 variants.

Saved in:
Bibliographic Details
Title: A clinical and genotype-phenotype analysis of MACF1 variants.
Authors: Dekker J; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands. Electronic address: j.dekker.1@erasmusmc.nl., Schot R; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Departments of Pediatrics and Neurology, University of Washington, Seattle, WA 98105, USA., Everman DB; Greenwood Genetic Center, Greenwood, SC 29646, USA., Washington C; Greenwood Genetic Center, Greenwood, SC 29646, USA., Jones JR; Greenwood Genetic Center, Greenwood, SC 29646, USA., Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA., Spillmann RC; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA., Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA., Vitobello A; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Dijon, France., Denommé-Pichon AS; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Dijon, France., Mosca-Boidron AL; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Dijon, France., Perrin L; Département de Génétique, Hôpital Robert Debré, 75019 Paris, France., Auvin S; Université Paris-Cité, INSERM NeuroDiderot, APHP, Robert Debré University Hospital, Pediatric Neurology Department, CRMR Epilepsies rares, EpiCare member, Institut Universitaire de France, (IUF), Paris, France., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Gleeson JG; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92037, USA., Meave N; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92037, USA., Wallace C; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92037, USA., Nambot S; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHUTRANSLAD - CHU de Dijon, Dijon, France., Delanne J; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHUTRANSLAD - CHU de Dijon, Dijon, France., Ruggiero SM; Division of Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Helbig I; Division of Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Fitzgerald MP; Division of Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Leventer RJ; Department of Neurology, Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Melbourne, Parkville VIC 3052, Australia., Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, St. Louis, MO 63110, USA., Argilli E; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA., Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA., Prakash S; Phoenix Children's Hospital, Department of Genetics & Metabolism, 1919 East Thomas Road, Rosenberg Building, Suite 304, Phoenix, AZ 85016, USA., Neilson DE; Phoenix Children's Hospital, Department of Genetics & Metabolism, 1919 East Thomas Road, Rosenberg Building, Suite 304, Phoenix, AZ 85016, USA; University of Arizona College of Medicine-Phoenix, Department of Child Health, 475 N. 5th Street, Phoenix, AZ 85004, USA., Nicita F; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy., Sferra A; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy., Bertini ES; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy., Aiello C; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Brockmann K; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Children's Hospital, University Medical Center, Göttingen, Germany., Kuranov AB; Institute of Human Genetics University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany., Kaulfuss S; Institute of Human Genetics University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany., Basit S; Department of Biochemistry and Molecular Medicine, College of Medicine, Taibah University, Almadinah Almunawwarah, Saudi Arabia., Alluqmani M; Department of Neurology, College of Medicine, Taibah University, Almadinah Almunawwarah, Saudi Arabia., Almatrafi A; Department of Biology, College of Science, Taibah University, Almadinah Almunawwarah, Saudi Arabia., Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Guimond C; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Mohammed F; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology (IGIB), New Delhi 110007, India., Sharma P; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology (IGIB), New Delhi 110007, India., Goel D; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology (IGIB), New Delhi 110007, India; Department of Pharmacology, School of Pharmaceutical Education & Research (SPER), Jamia Hamdard, New Delhi 110062, India., Wirth T; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France., Anheim M; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France; Centre de Référence des Maladies Neurogénétiques Rares, Strasbourg, France., Bahena P; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany., Koparir A; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany., Kolokotronis K; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany., Vona B; Institute of Human Genetics University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany., Haaf T; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany., Kunstmann E; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Sczakiel HL; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany; BIH Biomedical Innovation Academy, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany; RG Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Boschann F; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany; BIH Biomedical Innovation Academy, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany., Misra-Isrie M; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Stolerman ES; Greenwood Genetic Center, Greenwood, SC 29646, USA., Sanchez-Lara PA; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Mergler S; Medical Department ASVZ, Care and Service Center for People with Intellectual Disabilities, Sliedrecht, the Netherlands; Department of General Practice and Intellectual Disability Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Zarate YA; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA., Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran., Tajsharghi H; School of Health Sciences, Biomedicine Division, University of Skovde, Skovde, Sweden., Zeidler S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands., Kievit AJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands., Bouman A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands., Cappuccio G; Department of Pediatrics -Neurology, Baylor College of Medicine, Houston, TX 77030, USA., Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy., Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands., Swols DM; Division of Clinical and Translational Genetics, Dr. John T Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA., Tekin M; Division of Clinical and Translational Genetics, Dr. John T Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA., Upadia J; Hayward Genetics Center, Department of Pediatrics, Tulane University School of Medicine, New Orleans, LA, USA., Martin DM; Departments of Pediatrics and Human Genetics, the University of Michigan Medical School, Ann Arbor, MI, USA., Craven D; Department of Pediatric Pulmonology, Rainbow Babies and Children's Hospital, Cleveland, OH, USA., Hiatt SM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA., van de Pol LA; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, Vrije Universiteit location, Amsterdam, the Netherlands., D'Arco F; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Margot H; Service de génétique médicale, CHU de Bordeaux, Bordeaux, France., Wilke M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands., Yousefi S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands., van Veghel-Plandsoen MM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands., Aronica E; Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Department of (Neuro)Pathology, Amsterdam, the Netherlands; Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede, the Netherlands., Anink J; Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Department of (Neuro)Pathology, Amsterdam, the Netherlands., Rogers SL; Department of Biology and Integrative Program for Biological and Genome Sciences, University of North Carolina, Chapel Hill, NC 27599, USA., Slep KC; Department of Biology, University of North Carolina, Chapel Hill, NC 27599, USA., Doherty D; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA., Dobyns WB; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN 55455, USA., Mancini GMS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.
Source: American journal of human genetics [Am J Hum Genet] 2025 Oct 02; Vol. 112 (10), pp. 2363-2380. Date of Electronic Publication: 2025 Sep 08.
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
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 40925378
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: A clinical and genotype-phenotype analysis of MACF1 variants.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Dekker+J%22">Dekker J</searchLink>; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands. Electronic address: j.dekker.1@erasmusmc.nl.<br /><searchLink fieldCode="AU" term="%22Schot+R%22">Schot R</searchLink>; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Aldinger+KA%22">Aldinger KA</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Departments of Pediatrics and Neurology, University of Washington, Seattle, WA 98105, USA.<br /><searchLink fieldCode="AU" term="%22Everman+DB%22">Everman DB</searchLink>; Greenwood Genetic Center, Greenwood, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Washington+C%22">Washington C</searchLink>; Greenwood Genetic Center, Greenwood, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Jones+JR%22">Jones JR</searchLink>; Greenwood Genetic Center, Greenwood, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Sullivan+JA%22">Sullivan JA</searchLink>; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA.<br /><searchLink fieldCode="AU" term="%22Spillmann+RC%22">Spillmann RC</searchLink>; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA.<br /><searchLink fieldCode="AU" term="%22Shashi+V%22">Shashi V</searchLink>; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA.<br /><searchLink fieldCode="AU" term="%22Vitobello+A%22">Vitobello A</searchLink>; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Denommé-Pichon+AS%22">Denommé-Pichon AS</searchLink>; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Mosca-Boidron+AL%22">Mosca-Boidron AL</searchLink>; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Perrin+L%22">Perrin L</searchLink>; Département de Génétique, Hôpital Robert Debré, 75019 Paris, France.<br /><searchLink fieldCode="AU" term="%22Auvin+S%22">Auvin S</searchLink>; Université Paris-Cité, INSERM NeuroDiderot, APHP, Robert Debré University Hospital, Pediatric Neurology Department, CRMR Epilepsies rares, EpiCare member, Institut Universitaire de France, (IUF), Paris, France.<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="%22Gleeson+JG%22">Gleeson JG</searchLink>; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92037, USA.<br /><searchLink fieldCode="AU" term="%22Meave+N%22">Meave N</searchLink>; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92037, USA.<br /><searchLink fieldCode="AU" term="%22Wallace+C%22">Wallace C</searchLink>; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92037, USA.<br /><searchLink fieldCode="AU" term="%22Nambot+S%22">Nambot S</searchLink>; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHUTRANSLAD - CHU de Dijon, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Delanne+J%22">Delanne J</searchLink>; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHUTRANSLAD - CHU de Dijon, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Ruggiero+SM%22">Ruggiero SM</searchLink>; Division of Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Helbig+I%22">Helbig I</searchLink>; Division of Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Fitzgerald+MP%22">Fitzgerald MP</searchLink>; Division of Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Leventer+RJ%22">Leventer RJ</searchLink>; Department of Neurology, Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Melbourne, Parkville VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Grange+DK%22">Grange DK</searchLink>; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, St. Louis, MO 63110, USA.<br /><searchLink fieldCode="AU" term="%22Argilli+E%22">Argilli E</searchLink>; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.<br /><searchLink fieldCode="AU" term="%22Sherr+EH%22">Sherr EH</searchLink>; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.<br /><searchLink fieldCode="AU" term="%22Prakash+S%22">Prakash S</searchLink>; Phoenix Children's Hospital, Department of Genetics & Metabolism, 1919 East Thomas Road, Rosenberg Building, Suite 304, Phoenix, AZ 85016, USA.<br /><searchLink fieldCode="AU" term="%22Neilson+DE%22">Neilson DE</searchLink>; Phoenix Children's Hospital, Department of Genetics & Metabolism, 1919 East Thomas Road, Rosenberg Building, Suite 304, Phoenix, AZ 85016, USA; University of Arizona College of Medicine-Phoenix, Department of Child Health, 475 N. 5th Street, Phoenix, AZ 85004, USA.<br /><searchLink fieldCode="AU" term="%22Nicita+F%22">Nicita F</searchLink>; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Sferra+A%22">Sferra A</searchLink>; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Bertini+ES%22">Bertini ES</searchLink>; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Aiello+C%22">Aiello C</searchLink>; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Brockmann+K%22">Brockmann K</searchLink>; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Children's Hospital, University Medical Center, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kuranov+AB%22">Kuranov AB</searchLink>; Institute of Human Genetics University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kaulfuss+S%22">Kaulfuss S</searchLink>; Institute of Human Genetics University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Basit+S%22">Basit S</searchLink>; Department of Biochemistry and Molecular Medicine, College of Medicine, Taibah University, Almadinah Almunawwarah, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alluqmani+M%22">Alluqmani M</searchLink>; Department of Neurology, College of Medicine, Taibah University, Almadinah Almunawwarah, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Almatrafi+A%22">Almatrafi A</searchLink>; Department of Biology, College of Science, Taibah University, Almadinah Almunawwarah, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Friedman+JM%22">Friedman JM</searchLink>; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Guimond+C%22">Guimond C</searchLink>; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Mohammed+F%22">Mohammed F</searchLink>; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology (IGIB), New Delhi 110007, India.<br /><searchLink fieldCode="AU" term="%22Sharma+P%22">Sharma P</searchLink>; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology (IGIB), New Delhi 110007, India.<br /><searchLink fieldCode="AU" term="%22Goel+D%22">Goel D</searchLink>; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology (IGIB), New Delhi 110007, India; Department of Pharmacology, School of Pharmaceutical Education & Research (SPER), Jamia Hamdard, New Delhi 110062, India.<br /><searchLink fieldCode="AU" term="%22Wirth+T%22">Wirth T</searchLink>; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Anheim+M%22">Anheim M</searchLink>; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France; Centre de Référence des Maladies Neurogénétiques Rares, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Bahena+P%22">Bahena P</searchLink>; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Koparir+A%22">Koparir A</searchLink>; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Kolokotronis+K%22">Kolokotronis K</searchLink>; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Vona+B%22">Vona B</searchLink>; Institute of Human Genetics University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Haaf+T%22">Haaf T</searchLink>; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Kunstmann+E%22">Kunstmann E</searchLink>; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Maroofian+R%22">Maroofian R</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Sczakiel+HL%22">Sczakiel HL</searchLink>; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany; BIH Biomedical Innovation Academy, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany; RG Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Boschann+F%22">Boschann F</searchLink>; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany; BIH Biomedical Innovation Academy, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Misra-Isrie+M%22">Misra-Isrie M</searchLink>; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Louie+RJ%22">Louie RJ</searchLink>; Greenwood Genetic Center, Greenwood, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Stolerman+ES%22">Stolerman ES</searchLink>; Greenwood Genetic Center, Greenwood, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Sanchez-Lara+PA%22">Sanchez-Lara PA</searchLink>; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.<br /><searchLink fieldCode="AU" term="%22Mergler+S%22">Mergler S</searchLink>; Medical Department ASVZ, Care and Service Center for People with Intellectual Disabilities, Sliedrecht, the Netherlands; Department of General Practice and Intellectual Disability Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Oegema+R%22">Oegema R</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Zarate+YA%22">Zarate YA</searchLink>; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA.<br /><searchLink fieldCode="AU" term="%22Kariminejad+A%22">Kariminejad A</searchLink>; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Tajsharghi+H%22">Tajsharghi H</searchLink>; School of Health Sciences, Biomedicine Division, University of Skovde, Skovde, Sweden.<br /><searchLink fieldCode="AU" term="%22Zeidler+S%22">Zeidler S</searchLink>; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Kievit+AJA%22">Kievit AJA</searchLink>; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Bouman+A%22">Bouman A</searchLink>; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Cappuccio+G%22">Cappuccio G</searchLink>; Department of Pediatrics -Neurology, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Brunetti-Pierri+N%22">Brunetti-Pierri N</searchLink>; Department of Translational Medicine, Federico II University, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Stuurman+KE%22">Stuurman KE</searchLink>; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Swols+DM%22">Swols DM</searchLink>; Division of Clinical and Translational Genetics, Dr. John T Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.<br /><searchLink fieldCode="AU" term="%22Tekin+M%22">Tekin M</searchLink>; Division of Clinical and Translational Genetics, Dr. John T Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.<br /><searchLink fieldCode="AU" term="%22Upadia+J%22">Upadia J</searchLink>; Hayward Genetics Center, Department of Pediatrics, Tulane University School of Medicine, New Orleans, LA, USA.<br /><searchLink fieldCode="AU" term="%22Martin+DM%22">Martin DM</searchLink>; Departments of Pediatrics and Human Genetics, the University of Michigan Medical School, Ann Arbor, MI, USA.<br /><searchLink fieldCode="AU" term="%22Craven+D%22">Craven D</searchLink>; Department of Pediatric Pulmonology, Rainbow Babies and Children's Hospital, Cleveland, OH, USA.<br /><searchLink fieldCode="AU" term="%22Hiatt+SM%22">Hiatt SM</searchLink>; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA.<br /><searchLink fieldCode="AU" term="%22van+de+Pol+LA%22">van de Pol LA</searchLink>; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, Vrije Universiteit location, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22D'Arco+F%22">D'Arco F</searchLink>; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.<br /><searchLink fieldCode="AU" term="%22Margot+H%22">Margot H</searchLink>; Service de génétique médicale, CHU de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Wilke+M%22">Wilke M</searchLink>; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Yousefi+S%22">Yousefi S</searchLink>; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Barakat+TS%22">Barakat TS</searchLink>; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Veghel-Plandsoen+MM%22">van Veghel-Plandsoen MM</searchLink>; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Aronica+E%22">Aronica E</searchLink>; Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Department of (Neuro)Pathology, Amsterdam, the Netherlands; Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Anink+J%22">Anink J</searchLink>; Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Department of (Neuro)Pathology, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Rogers+SL%22">Rogers SL</searchLink>; Department of Biology and Integrative Program for Biological and Genome Sciences, University of North Carolina, Chapel Hill, NC 27599, USA.<br /><searchLink fieldCode="AU" term="%22Slep+KC%22">Slep KC</searchLink>; Department of Biology, University of North Carolina, Chapel Hill, NC 27599, USA.<br /><searchLink fieldCode="AU" term="%22Doherty+D%22">Doherty D</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.<br /><searchLink fieldCode="AU" term="%22Dobyns+WB%22">Dobyns WB</searchLink>; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN 55455, USA.<br /><searchLink fieldCode="AU" term="%22Mancini+GMS%22">Mancini GMS</searchLink>; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2025 Oct 02; Vol. 112 (10), pp. 2363-2380. <i>Date of Electronic Publication: </i>2025 Sep 08.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, N.I.H., Extramural
– Name: TitleSource
  Label: Journal Info
  Group: Src
  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
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40925378
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.ajhg.2025.08.010
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 2363
    Titles:
      – TitleFull: A clinical and genotype-phenotype analysis of MACF1 variants.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Dekker J
      – PersonEntity:
          Name:
            NameFull: Schot R
      – PersonEntity:
          Name:
            NameFull: Aldinger KA
      – PersonEntity:
          Name:
            NameFull: Everman DB
      – PersonEntity:
          Name:
            NameFull: Washington C
      – PersonEntity:
          Name:
            NameFull: Jones JR
      – PersonEntity:
          Name:
            NameFull: Sullivan JA
      – PersonEntity:
          Name:
            NameFull: Spillmann RC
      – PersonEntity:
          Name:
            NameFull: Shashi V
      – PersonEntity:
          Name:
            NameFull: Vitobello A
      – PersonEntity:
          Name:
            NameFull: Denommé-Pichon AS
      – PersonEntity:
          Name:
            NameFull: Mosca-Boidron AL
      – PersonEntity:
          Name:
            NameFull: Perrin L
      – PersonEntity:
          Name:
            NameFull: Auvin S
      – PersonEntity:
          Name:
            NameFull: Zaki MS
      – PersonEntity:
          Name:
            NameFull: Gleeson JG
      – PersonEntity:
          Name:
            NameFull: Meave N
      – PersonEntity:
          Name:
            NameFull: Wallace C
      – PersonEntity:
          Name:
            NameFull: Nambot S
      – PersonEntity:
          Name:
            NameFull: Delanne J
      – PersonEntity:
          Name:
            NameFull: Ruggiero SM
      – PersonEntity:
          Name:
            NameFull: Helbig I
      – PersonEntity:
          Name:
            NameFull: Fitzgerald MP
      – PersonEntity:
          Name:
            NameFull: Leventer RJ
      – PersonEntity:
          Name:
            NameFull: Grange DK
      – PersonEntity:
          Name:
            NameFull: Argilli E
      – PersonEntity:
          Name:
            NameFull: Sherr EH
      – PersonEntity:
          Name:
            NameFull: Prakash S
      – PersonEntity:
          Name:
            NameFull: Neilson DE
      – PersonEntity:
          Name:
            NameFull: Nicita F
      – PersonEntity:
          Name:
            NameFull: Sferra A
      – PersonEntity:
          Name:
            NameFull: Bertini ES
      – PersonEntity:
          Name:
            NameFull: Aiello C
      – PersonEntity:
          Name:
            NameFull: Brockmann K
      – PersonEntity:
          Name:
            NameFull: Kuranov AB
      – PersonEntity:
          Name:
            NameFull: Kaulfuss S
      – PersonEntity:
          Name:
            NameFull: Basit S
      – PersonEntity:
          Name:
            NameFull: Alluqmani M
      – PersonEntity:
          Name:
            NameFull: Almatrafi A
      – PersonEntity:
          Name:
            NameFull: Friedman JM
      – PersonEntity:
          Name:
            NameFull: Guimond C
      – PersonEntity:
          Name:
            NameFull: Mohammed F
      – PersonEntity:
          Name:
            NameFull: Sharma P
      – PersonEntity:
          Name:
            NameFull: Goel D
      – PersonEntity:
          Name:
            NameFull: Wirth T
      – PersonEntity:
          Name:
            NameFull: Anheim M
      – PersonEntity:
          Name:
            NameFull: Bahena P
      – PersonEntity:
          Name:
            NameFull: Koparir A
      – PersonEntity:
          Name:
            NameFull: Kolokotronis K
      – PersonEntity:
          Name:
            NameFull: Vona B
      – PersonEntity:
          Name:
            NameFull: Haaf T
      – PersonEntity:
          Name:
            NameFull: Kunstmann E
      – PersonEntity:
          Name:
            NameFull: Maroofian R
      – PersonEntity:
          Name:
            NameFull: Sczakiel HL
      – PersonEntity:
          Name:
            NameFull: Boschann F
      – PersonEntity:
          Name:
            NameFull: Misra-Isrie M
      – PersonEntity:
          Name:
            NameFull: Louie RJ
      – PersonEntity:
          Name:
            NameFull: Stolerman ES
      – PersonEntity:
          Name:
            NameFull: Sanchez-Lara PA
      – PersonEntity:
          Name:
            NameFull: Mergler S
      – PersonEntity:
          Name:
            NameFull: Oegema R
      – PersonEntity:
          Name:
            NameFull: Zarate YA
      – PersonEntity:
          Name:
            NameFull: Kariminejad A
      – PersonEntity:
          Name:
            NameFull: Tajsharghi H
      – PersonEntity:
          Name:
            NameFull: Zeidler S
      – PersonEntity:
          Name:
            NameFull: Kievit AJA
      – PersonEntity:
          Name:
            NameFull: Bouman A
      – PersonEntity:
          Name:
            NameFull: Cappuccio G
      – PersonEntity:
          Name:
            NameFull: Brunetti-Pierri N
      – PersonEntity:
          Name:
            NameFull: Stuurman KE
      – PersonEntity:
          Name:
            NameFull: Swols DM
      – PersonEntity:
          Name:
            NameFull: Tekin M
      – PersonEntity:
          Name:
            NameFull: Upadia J
      – PersonEntity:
          Name:
            NameFull: Martin DM
      – PersonEntity:
          Name:
            NameFull: Craven D
      – PersonEntity:
          Name:
            NameFull: Hiatt SM
      – PersonEntity:
          Name:
            NameFull: van de Pol LA
      – PersonEntity:
          Name:
            NameFull: D'Arco F
      – PersonEntity:
          Name:
            NameFull: Margot H
      – PersonEntity:
          Name:
            NameFull: Wilke M
      – PersonEntity:
          Name:
            NameFull: Yousefi S
      – PersonEntity:
          Name:
            NameFull: Barakat TS
      – PersonEntity:
          Name:
            NameFull: van Veghel-Plandsoen MM
      – PersonEntity:
          Name:
            NameFull: Aronica E
      – PersonEntity:
          Name:
            NameFull: Anink J
      – PersonEntity:
          Name:
            NameFull: Rogers SL
      – PersonEntity:
          Name:
            NameFull: Slep KC
      – PersonEntity:
          Name:
            NameFull: Doherty D
      – PersonEntity:
          Name:
            NameFull: Dobyns WB
      – PersonEntity:
          Name:
            NameFull: Mancini GMS
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 02
              M: 10
              Text: 2025 Oct 02
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1537-6605
          Numbering:
            – Type: volume
              Value: 112
            – Type: issue
              Value: 10
          Titles:
            – TitleFull: American journal of human genetics
              Type: main
ResultId 1