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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
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In: ISSN: 0002-9297 ; EISSN: 1537-6605 ; American Journal of Human Genetics ; https://hal-univ-rennes1.archives-ouvertes.fr/hal-03268683 ; American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (2), pp.346-356. ⟨10.1016/j.ajhg.2021.01.007⟩ (2021)
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| 2 |
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
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In: ISSN: 2041-1723 ; EISSN: 2041-1723 ; Nature Communications ; https://hal.sorbonne-universite.fr/hal-01922858 ; Nature Communications, Nature Publishing Group, 2018, 9 (1), pp.4619. ⟨10.1038/s41467-018-06014-6⟩ (2018)
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Novel genetic loci associated with hippocampal volume
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In: ISSN: 2041-1723 ; EISSN: 2041-1723 ; Nature Communications ; https://hal.archives-ouvertes.fr/hal-01488337 ; Nature Communications, Nature Publishing Group, 2017, 8, pp.13624. ⟨10.1038/ncomms13624⟩ (2017)
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| 4 |
Novel genetic loci underlying human intracranial volume identified through genome-wide association
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In: ISSN: 1097-6256 ; EISSN: 1546-1726 ; Nature Neuroscience ; https://hal.archives-ouvertes.fr/hal-01382716 ; Nature Neuroscience, Nature Publishing Group, 2016, 19 (12), pp.1569-1582. ⟨10.1038/nn.4398⟩ (2016)
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| 5 |
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
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Common genetic variants influence human subcortical brain structures.
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In: ISSN: 0028-0836 ; EISSN: 1476-4679 ; Nature ; https://hal.archives-ouvertes.fr/hal-01196805 ; Nature, Nature Publishing Group, 2015, 520 (7546), pp.224-9. ⟨10.1038/nature14101⟩ (2015)
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| 7 |
The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data
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In: ISSN: 1931-7557 ; EISSN: 1931-7565 ; Brain imaging and behavior (Brain Imaging Behav) ; https://hal-pasteur.archives-ouvertes.fr/pasteur-01967166 ; Brain imaging and behavior (Brain Imaging Behav), Secaucus, NJ : Springer, 2014, 8 (2), pp.152-182. ⟨10.1007/s11682-013-9269-5⟩ (2014)
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