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Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior.

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Title: Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior.
Authors: Maass JG; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Kamionek D; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany., Mantilleri A; Institute of Biology Valrose (iBV), University Côte d'Azur (UCA), CNRS 7277, Inserm 1091, Avenue Valrose 28, Nice 06108, France., Theiss S; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany., Dötsch L; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany., Franke F; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany., Schubert T; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany., Scheck JG; Neuroradiology Department, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Clinical Cooperation Unit Translational Radiation Oncology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany., Pitzer C; Interdisciplinary Neurobehavioral Core, Heidelberg University, 69120 Heidelberg, Germany., Piovani P; Institute of Biology Valrose (iBV), University Côte d'Azur (UCA), CNRS 7277, Inserm 1091, Avenue Valrose 28, Nice 06108, France., Bertacchi M; Institute of Biology Valrose (iBV), University Côte d'Azur (UCA), CNRS 7277, Inserm 1091, Avenue Valrose 28, Nice 06108, France., Deschaux O; Institute of Biology Valrose (iBV), University Côte d'Azur (UCA), CNRS 7277, Inserm 1091, Avenue Valrose 28, Nice 06108, France., Singh A; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany., Chen CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Fröhlich H; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany., Studer M; Institute of Biology Valrose (iBV), University Côte d'Azur (UCA), CNRS 7277, Inserm 1091, Avenue Valrose 28, Nice 06108, France., Schaaf CP; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany.
Source: Disease models & mechanisms [Dis Model Mech] 2025 Oct 01; Vol. 18 (10). Date of Electronic Publication: 2025 Sep 22.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior.
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  Data: <searchLink fieldCode="AU" term="%22Maass+JG%22">Maass JG</searchLink>; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Kamionek+D%22">Kamionek D</searchLink>; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Mantilleri+A%22">Mantilleri A</searchLink>; Institute of Biology Valrose (iBV), University Côte d'Azur (UCA), CNRS 7277, Inserm 1091, Avenue Valrose 28, Nice 06108, France.<br /><searchLink fieldCode="AU" term="%22Theiss+S%22">Theiss S</searchLink>; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Dötsch+L%22">Dötsch L</searchLink>; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Franke+F%22">Franke F</searchLink>; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Schubert+T%22">Schubert T</searchLink>; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Scheck+JG%22">Scheck JG</searchLink>; Neuroradiology Department, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Clinical Cooperation Unit Translational Radiation Oncology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Pitzer+C%22">Pitzer C</searchLink>; Interdisciplinary Neurobehavioral Core, Heidelberg University, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Piovani+P%22">Piovani P</searchLink>; Institute of Biology Valrose (iBV), University Côte d'Azur (UCA), CNRS 7277, Inserm 1091, Avenue Valrose 28, Nice 06108, France.<br /><searchLink fieldCode="AU" term="%22Bertacchi+M%22">Bertacchi M</searchLink>; Institute of Biology Valrose (iBV), University Côte d'Azur (UCA), CNRS 7277, Inserm 1091, Avenue Valrose 28, Nice 06108, France.<br /><searchLink fieldCode="AU" term="%22Deschaux+O%22">Deschaux O</searchLink>; Institute of Biology Valrose (iBV), University Côte d'Azur (UCA), CNRS 7277, Inserm 1091, Avenue Valrose 28, Nice 06108, France.<br /><searchLink fieldCode="AU" term="%22Singh+A%22">Singh A</searchLink>; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Chen+CA%22">Chen CA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Fröhlich+H%22">Fröhlich H</searchLink>; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Studer+M%22">Studer M</searchLink>; Institute of Biology Valrose (iBV), University Côte d'Azur (UCA), CNRS 7277, Inserm 1091, Avenue Valrose 28, Nice 06108, France.<br /><searchLink fieldCode="AU" term="%22Schaaf+CP%22">Schaaf CP</searchLink>; Institute of Human Genetics, Heidelberg University Clinic, 69120 Heidelberg, Germany.
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  Data: <searchLink fieldCode="JN" term="%22101483332%22">Disease models & mechanisms</searchLink> [Dis Model Mech] 2025 Oct 01; Vol. 18 (10). <i>Date of Electronic Publication: </i>2025 Sep 22.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Company+of+Biologists+Ltd%22">Company of Biologists Ltd </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101483332 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1754-8411 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217548403%22">17548403 </searchLink><i>NLM ISO Abbreviation: </i>Dis Model Mech <i>Subsets: </i>MEDLINE
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