M. Bienek

发表

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

P. May, R. Krause, S. Haas, 2017, Brain : a journal of neurology.

Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family

S. Haas, M. Topf, V. Kalscheuer, 2016, Front. Mol. Neurosci..

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

B. V. van Bon, K. Friend, M. Shaw, 2015, American journal of human genetics.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Wei Chen, Reinhard Ullmann, Dagmar Wieczorek, 2011, Nature.

The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders

E. Obersztyn, A. Charzewska, A. Dufke, 2018, Clinical genetics.

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

J. Rosenfeld, B. V. van Bon, K. Friend, 2015, Human molecular genetics.

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function

L. Vissers, S. Haas, T. Kleefstra, 2014, Journal of Medical Genetics.

Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

S. Haas, Wei Chen, H. Richard, 2009, The HUGO Journal.

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

Hao Hu, Hugues Richard, Stefan A. Haas, 2009, The HUGO Journal.

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

J. Rosenfeld, M. Shaw, E. Haan, 2013, American journal of human genetics.

Variants in CUL4B are Associated with Cerebral Malformations

A. V. Vulto-van Silfhout, L. Vissers, S. Haas, 2015, Human mutation.