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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
View ORCID ProfileJ. den Hoed, View ORCID ProfileE. de Boer, View ORCID ProfileN. Voisin, View ORCID ProfileA.J.M. Dingemans, View ORCID ProfileN. Guex, View ORCID ProfileL. Wiel, C. Nellaker, S.M. Amudhavalli, S. Banka, F.S. Bena, B. Ben-Zeev, V.R. Bonagura, A.-L. Bruel, T. Brunet, H.G. Brunner, H.B. Chew, J. Chrast, L. Cimbalistienė, H. Coon, The DDD study, E.C. Délot, F. Démurger, A.-S. Denommé-Pichon, C. Depienne, D. Donnai, D.A. Dyment, O. Elpeleg, L. Faivre, View ORCID ProfileC. Gilissen, L. Granger, B. Haber, Y. Hachiya, Y. Hamzavi Abedi, J. Hanebeck, J.Y. Hehir-Kwa, B. Horist, T. Itai, A. Jackson, R. Jewell, K.L. Jones, S. Joss, H. Kashii, M. Kato, A.A. Kattentidt-Mouravieva, F. Kok, U. Kotzaeridou, V. Krishnamurthy, V. Kučinskas, A. Kuechler, A. Lavillaureix, P. Liu, L. Manwaring, N. Matsumoto, B. Mazel, K. McWalter, V. Meiner, M.A. Mikati, S. Miyatake, T. Mizuguchi, L.H. Moey, S. Mohammed, H. Mor-Shaked, H. Mountford, R. Newbury-Ecob, S. Odent, L. Orec, M. Osmond, T.B. Palculict, M. Parker, A. Petersen, R. Pfundt, E. Preikšaitienė, K. Radtke, E. Ranza, J.A. Rosenfeld, T. Santiago-Sim, C. Schwager, M. Sinnema, L. Snijders Blok, R.C. Spillmann, A.P.A. Stegmann, I. Thiffault, L. Tran, A. Vaknin-Dembinsky, J.H. Vedovato-dos-Santos, S.A. Vergano, E. Vilain, A. Vitobello, M. Wagner, A. Waheeb, M. Willing, B. Zuccarelli, View ORCID ProfileU. Kini, View ORCID ProfileD.F. Newbury, View ORCID ProfileT. Kleefstra, View ORCID ProfileA. Reymond, View ORCID ProfileS.E. Fisher, View ORCID ProfileL.E.L.M. Vissers
doi: https://doi.org/10.1101/2020.10.23.352278
J. den Hoed
1Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands
2International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands
E. de Boer
3Department of Human Genetics, Radboudumc, Nijmegen, the Netherlands
4Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands
N. Voisin
5Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland
A.J.M. Dingemans
3Department of Human Genetics, Radboudumc, Nijmegen, the Netherlands
4Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands
N. Guex
5Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland
6Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland
L. Wiel
3Department of Human Genetics, Radboudumc, Nijmegen, the Netherlands
7Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands
8Center for Molecular and Biomolecular Informatics of the Radboudumc, Nijmegen, the Netherlands
C. Nellaker
9Nuffield Department of Women’s and Reproductive Health, University of Oxford, Women’s Centre, John Radcliffe Hospital, Oxford, UK
10Institute of Biomedical Engineering, Department of Engineering Science, University of Oxford, Oxford, UK
11Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK
S.M. Amudhavalli
12University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA
13Department of Pediatrics, Division of Clinical Genetics, Children’s Mercy Hospital, Kansas City, MO, USA
S. Banka
14Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty Biology, Medicine and Health, University of Manchester, Manchester, UK
15Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, Health ovation Manchester, Manchester, UK
F.S. Bena
16Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
B. Ben-Zeev
17Edmomd and Lilly Safra pediatric hospital, Sheba Med Ctr and Sackler school of medicine, Tel Aviv University
V.R. Bonagura
18Institute of Molecular Medicine, Feinstein Institutes for Medical Research, USA
19Pediatrics and Molecular Medicine, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, USA
A.-L. Bruel
20UMR-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France
21Laboratoire de Génétique chromosomique et moléculaire, UF Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, Dijon, France
T. Brunet
22Institute of Human Genetics, Technical University of Munich, Munich, Germany
H.G. Brunner
3Department of Human Genetics, Radboudumc, Nijmegen, the Netherlands
4Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands
23Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands
H.B. Chew
24Department of Genetics, Kuala Lumpur Hospital, Jalan Pahang, Kuala Lumpur, Malaysia
J. Chrast
5Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland
L. Cimbalistienė
25Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania
H. Coon
26Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, UT, USA
27Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK
E.C. Délot
28Center for Genetic Medicine Research, Children’s National Hospital, Children’s Research Institute and Department of Genomics and Precision Medicine, George Washington University, Washington, DC, USA
F. Démurger
29Department of clinical genetics, Vannes hospital, Vannes, France
A.-S. Denommé-Pichon
20UMR-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France
21Laboratoire de Génétique chromosomique et moléculaire, UF Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, Dijon, France
C. Depienne
30Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
D. Donnai
14Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty Biology, Medicine and Health, University of Manchester, Manchester, UK
15Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, Health ovation Manchester, Manchester, UK
D.A. Dyment
31Children’s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada
O. Elpeleg
32Department of Genetics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
L. Faivre
20UMR-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France
33Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l’Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France
34Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre spitalier Universitaire Dijon, Dijon, France
C. Gilissen
3Department of Human Genetics, Radboudumc, Nijmegen, the Netherlands
7Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands
L. Granger
35Department of Rehabilitation and Development, Randall Children’s Hospital at Legacy Emanuel Medical Center, Portland, gon, USA
B. Haber
36Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
Y. Hachiya
37Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo, Japan
Y. Hamzavi Abedi
38Division of Allergy and Immunology, Northwell Health, Great Neck, NY, USA
39Departments of Medicine and Pediatrics, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY, USA
J. Hanebeck
36Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
J.Y. Hehir-Kwa
40Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
B. Horist
41Pediatrics & Genetics, Alpharetta, USA
T. Itai
42Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan
A. Jackson
14Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty Biology, Medicine and Health, University of Manchester, Manchester, UK
R. Jewell
43Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK
K.L. Jones
44Division of Medical Genetics & Metabolism, Children’s Hospital of the King’s Daughters, Norfolk, VA, USA
45Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA, USA
S. Joss
46West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK
H. Kashii
37Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo, Japan
M. Kato
47Department of Pediatrics, Showa University School of Medicine, Shinagawa-ku, Tokyo, Japan
A.A. Kattentidt-Mouravieva
48Zuidwester, Middelharnis, The Netherlands
F. Kok
49Mendelics Genomic Analysis, Sao Paulo, SP Brazil
50University of Sao Paulo, School of Medicine, Sao Paulo, SP Brazil
U. Kotzaeridou
36Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
V. Krishnamurthy
41Pediatrics & Genetics, Alpharetta, USA
V. Kučinskas
25Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania
A. Kuechler
30Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
A. Lavillaureix
51CHU Rennes, Univ Rennes, CNRS, IGDR, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, France
P. Liu
52Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
53Baylor Genetics, Houston, Texas, 77021, USA
L. Manwaring
54Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis,), USA
N. Matsumoto
42Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan
B. Mazel
33Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l’Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France
K. McWalter
55GeneDx, 207 Perry Parkway Gaithersburg, Maryland, USA
V. Meiner
32Department of Genetics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
M.A. Mikati
56Division of Pediatric Neurology, Duke University Medical Center, Durham, North Carolina, USA
S. Miyatake
42Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan
T. Mizuguchi
42Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan
L.H. Moey
57Department of Genetics, Penang General Hospital, Jalan Residensi, Georgetown, Penang, Malaysia
S. Mohammed
58Clinical Genetics, Guy’s Hospital, Great Maze Pond, London, UK
H. Mor-Shaked
32Department of Genetics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
H. Mountford
59Department of Biological and Medical Sciences, Headington Campus, Oxford Brookes University, UK
R. Newbury-Ecob
60Clinical Genetics, St Michael’s Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, UK
S. Odent
51CHU Rennes, Univ Rennes, CNRS, IGDR, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, France
L. Orec
36Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
M. Osmond
31Children’s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada
T.B. Palculict
55GeneDx, 207 Perry Parkway Gaithersburg, Maryland, USA
M. Parker
61Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield, UK
A. Petersen
35Department of Rehabilitation and Development, Randall Children’s Hospital at Legacy Emanuel Medical Center, Portland, gon, USA
R. Pfundt
3Department of Human Genetics, Radboudumc, Nijmegen, the Netherlands
E. Preikšaitienė
25Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania
K. Radtke
62Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA
E. Ranza
16Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
63Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland
J.A. Rosenfeld
52Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
T. Santiago-Sim
55GeneDx, 207 Perry Parkway Gaithersburg, Maryland, USA
C. Schwager
12University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA
13Department of Pediatrics, Division of Clinical Genetics, Children’s Mercy Hospital, Kansas City, MO, USA
M. Sinnema
23Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands
64Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, astricht University, Maastricht, The Netherlands
L. Snijders Blok
1Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands
3Department of Human Genetics, Radboudumc, Nijmegen, the Netherlands
4Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands
R.C. Spillmann
65Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA
A.P.A. Stegmann
3Department of Human Genetics, Radboudumc, Nijmegen, the Netherlands
23Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands
I. Thiffault
12University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA
66Center for Pediatric Genomic Medicine, Children’s Mercy Hospital, Kansas City, MO, USA
67Department of Pathology and Laboratory Medicine, Children’s Mercy Hospital, Kansas City, MO, USA
L. Tran
56Division of Pediatric Neurology, Duke University Medical Center, Durham, North Carolina, USA
A. Vaknin-Dembinsky
32Department of Genetics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
J.H. Vedovato-dos-Santos
49Mendelics Genomic Analysis, Sao Paulo, SP Brazil
S.A. Vergano
44Division of Medical Genetics & Metabolism, Children’s Hospital of the King’s Daughters, Norfolk, VA, USA
E. Vilain
28Center for Genetic Medicine Research, Children’s National Hospital, Children’s Research Institute and Department of Genomics and Precision Medicine, George Washington University, Washington, DC, USA
A. Vitobello
20UMR-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France
21Laboratoire de Génétique chromosomique et moléculaire, UF Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, Dijon, France
M. Wagner
22Institute of Human Genetics, Technical University of Munich, Munich, Germany
68Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany
A. Waheeb
31Children’s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada
69Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
M. Willing
54Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis,), USA
B. Zuccarelli
70The University of Kansas School of Medicine Salina Campus, Salina, USA
U. Kini
71Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
D.F. Newbury
59Department of Biological and Medical Sciences, Headington Campus, Oxford Brookes University, UK
T. Kleefstra
3Department of Human Genetics, Radboudumc, Nijmegen, the Netherlands
4Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands
A. Reymond
5Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland
S.E. Fisher
1Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands
4Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands
L.E.L.M. Vissers
3Department of Human Genetics, Radboudumc, Nijmegen, the Netherlands
4Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands
Article usage
Posted October 24, 2020.
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
J. den Hoed, E. de Boer, N. Voisin, A.J.M. Dingemans, N. Guex, L. Wiel, C. Nellaker, S.M. Amudhavalli, S. Banka, F.S. Bena, B. Ben-Zeev, V.R. Bonagura, A.-L. Bruel, T. Brunet, H.G. Brunner, H.B. Chew, J. Chrast, L. Cimbalistienė, H. Coon, The DDD study, E.C. Délot, F. Démurger, A.-S. Denommé-Pichon, C. Depienne, D. Donnai, D.A. Dyment, O. Elpeleg, L. Faivre, C. Gilissen, L. Granger, B. Haber, Y. Hachiya, Y. Hamzavi Abedi, J. Hanebeck, J.Y. Hehir-Kwa, B. Horist, T. Itai, A. Jackson, R. Jewell, K.L. Jones, S. Joss, H. Kashii, M. Kato, A.A. Kattentidt-Mouravieva, F. Kok, U. Kotzaeridou, V. Krishnamurthy, V. Kučinskas, A. Kuechler, A. Lavillaureix, P. Liu, L. Manwaring, N. Matsumoto, B. Mazel, K. McWalter, V. Meiner, M.A. Mikati, S. Miyatake, T. Mizuguchi, L.H. Moey, S. Mohammed, H. Mor-Shaked, H. Mountford, R. Newbury-Ecob, S. Odent, L. Orec, M. Osmond, T.B. Palculict, M. Parker, A. Petersen, R. Pfundt, E. Preikšaitienė, K. Radtke, E. Ranza, J.A. Rosenfeld, T. Santiago-Sim, C. Schwager, M. Sinnema, L. Snijders Blok, R.C. Spillmann, A.P.A. Stegmann, I. Thiffault, L. Tran, A. Vaknin-Dembinsky, J.H. Vedovato-dos-Santos, S.A. Vergano, E. Vilain, A. Vitobello, M. Wagner, A. Waheeb, M. Willing, B. Zuccarelli, U. Kini, D.F. Newbury, T. Kleefstra, A. Reymond, S.E. Fisher, L.E.L.M. Vissers
bioRxiv 2020.10.23.352278; doi: https://doi.org/10.1101/2020.10.23.352278
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
J. den Hoed, E. de Boer, N. Voisin, A.J.M. Dingemans, N. Guex, L. Wiel, C. Nellaker, S.M. Amudhavalli, S. Banka, F.S. Bena, B. Ben-Zeev, V.R. Bonagura, A.-L. Bruel, T. Brunet, H.G. Brunner, H.B. Chew, J. Chrast, L. Cimbalistienė, H. Coon, The DDD study, E.C. Délot, F. Démurger, A.-S. Denommé-Pichon, C. Depienne, D. Donnai, D.A. Dyment, O. Elpeleg, L. Faivre, C. Gilissen, L. Granger, B. Haber, Y. Hachiya, Y. Hamzavi Abedi, J. Hanebeck, J.Y. Hehir-Kwa, B. Horist, T. Itai, A. Jackson, R. Jewell, K.L. Jones, S. Joss, H. Kashii, M. Kato, A.A. Kattentidt-Mouravieva, F. Kok, U. Kotzaeridou, V. Krishnamurthy, V. Kučinskas, A. Kuechler, A. Lavillaureix, P. Liu, L. Manwaring, N. Matsumoto, B. Mazel, K. McWalter, V. Meiner, M.A. Mikati, S. Miyatake, T. Mizuguchi, L.H. Moey, S. Mohammed, H. Mor-Shaked, H. Mountford, R. Newbury-Ecob, S. Odent, L. Orec, M. Osmond, T.B. Palculict, M. Parker, A. Petersen, R. Pfundt, E. Preikšaitienė, K. Radtke, E. Ranza, J.A. Rosenfeld, T. Santiago-Sim, C. Schwager, M. Sinnema, L. Snijders Blok, R.C. Spillmann, A.P.A. Stegmann, I. Thiffault, L. Tran, A. Vaknin-Dembinsky, J.H. Vedovato-dos-Santos, S.A. Vergano, E. Vilain, A. Vitobello, M. Wagner, A. Waheeb, M. Willing, B. Zuccarelli, U. Kini, D.F. Newbury, T. Kleefstra, A. Reymond, S.E. Fisher, L.E.L.M. Vissers
bioRxiv 2020.10.23.352278; doi: https://doi.org/10.1101/2020.10.23.352278
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