Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Kaya Bilgüvar, Ali K. Ozturk, Angeliki Louvi, +29

Nature

Mendelian DisorderGenetic DisorderGeneticsSevere Brain MalformationsNeurology +6

The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

Mehmet Bakırcıoğlu, Ofélia P. Carvalho, Maryam Khurshid, +20

The American Journal of Human Genetics

Somatic<i>POLE</i>mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis

E. Zeynep Erson‐Omay, Ahmet Okay Çağlayan, Nikolaus Schultz, +25

Neuro-Oncology

Recessive LAMC3 mutations cause malformations of occipital cortical development

Tanyeri Barak, Kenneth Y. Kwan, Angeliki Louvi, +24

Nature Genetics

Developmental AnomalyDevelopmental BiologyBrain DevelopmentNeuroanatomyGenetics +5

PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans

Tanyeri Barak, Emma Ristori, A. Gulhan Ercan‐Sencicek, +35

Nature Medicine

Brain AngiogenesisAngiogenesisIntracranial AneurysmsVascular BiologyBrain Injury +6

<i>DIAPH1</i> Variants in Non–East Asian Patients With Sporadic Moyamoya Disease

Adam J. Kundishora, Samuel T. Peters, Amélie Pinard, +45

JAMA Neurology

Type of bony involvement predicts genomic subgroup in sphenoid wing meningiomas

Lan Jin, Mark W. Youngblood, Trisha Gupte, +18

Journal of Neuro-Oncology

BiologyAxial SkeletonBony InvolvementSphenoid Wing MeningiomasGenomic Subgroup +4

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

Shujuan Zhao, Kedous Y. Mekbib, Martijn A. van der Ent, +63

Nature Communications

Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease

Ketu Mishra-Gorur, Tanyeri Barak, Leon D. Kaulen, +27

Proceedings of the National Academy of Sciences

Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas

Mark W. Youngblood, E. Zeynep Erson‐Omay, Chang Li, +33

Nature Communications