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Structure: Internal structure identifier : 177981

Variants in CUL4B are Associated with Cerebral Malformations

Anneke T. Vulto-van Silfhout , Tadashi Nakagawa , Nadia Bahi-Buisson , Stefan A. Haas , Hao Hu et al.
Human Mutation, 2015, 36 (1), pp.106-117. ⟨10.1002/humu.22718⟩
Journal articles hal-01116441v1

Common genetic variants influence human subcortical brain structures.

Derrek P Hibar , Jason L Stein , Miguel E Renteria , Alejandro Arias-Vasquez , Sylvane Desrivières et al.
Nature, 2015, 520 (7546), pp.224-9. ⟨10.1038/nature14101⟩
Journal articles hal-01196805v1

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

Suzanna Gerarda Maria Frints , Steffen Lenzner , Mareike Bauters , Lars Riff Jensen , Hilde van Esch et al.
European Journal of Human Genetics, 2008, 16 (9), pp.1029-37. ⟨10.1038/ejhg.2008.66⟩
Journal articles hal-00655304v1

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

Arjan P M de Brouwer , Helger G Yntema , Tjitske Kleefstra , Dorien Lugtenberg , Astrid R Oudakker et al.
Human Mutation, 2007, 28 (2), pp.207-8. ⟨10.1002/humu.9482⟩
Journal articles hal-00655314v1

Novel genetic loci underlying human intracranial volume identified through genome-wide association

Hieab H H Adams , Derrek P Hibar , Vincent Chouraki , Jason L Stein , Paul A Nyquist et al.
Nature Neuroscience, 2016, 19 (12), pp.1569-1582. ⟨10.1038/nn.4398⟩
Journal articles hal-01382716v1
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Novel genetic loci associated with hippocampal volume

Derrek P. Hibar , Hieab H. H. Adams , Neda Jahanshad , Ganesh Chauhan , Jason L. Stein et al.
Nature Communications, 2017, 8, pp.13624. ⟨10.1038/ncomms13624⟩
Journal articles hal-01488337v1

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Holly a.F. Stessman , Marjolein h. Willemsen , Michael Fenckova , Osnat Penn , Alexander Hoischen et al.
American Journal of Human Genetics, 2016, 98 (3), pp.541 - 552. ⟨10.1016/j.ajhg.2016.02.004⟩
Journal articles hal-01405534v1

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

Lisa Riley , Matthew Heeney , Joëlle Rudinger-Thirion , Magali Frugier , Dean Campagna et al.
Haematologica, 2018, 103 (12), pp.2008-2015. ⟨10.3324/haematol.2017.182659⟩
Journal articles hal-02118688v1