Christiane Zweier

发表

De novo mutations in the genome organizer CTCF cause intellectual disability.

Heinrich Sticht, Georgia Vasileiou, Juliane Hoyer, 2013, American journal of human genetics.

Transcription Factor E2-2 Is an Essential and Specific Regulator of Plasmacytoid Dendritic Cell Development

Manfred Lehner, Dan Holmberg, Boris Reizis, 2008, Cell.

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Juliane Hoyer, Bernt Popp, André Reis, 2017, American journal of human genetics.

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

Juliane Hoyer, Peter Nürnberg, André Reis, 2006, American journal of medical genetics. Part A.

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.

Annette Schenck, Arif B Ekici, André Reis, 2009, American journal of human genetics.

Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons

Arnd Dörfler, D. Lie, A. Dörfler, 2018, Molecular Autism.

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Juliane Hoyer, Alexander Dreweke, Alfredo Orrico, 2007, American journal of human genetics.

Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat–Wilson syndrome

Udo Rolle, A. Rauch, C. Zweier, 2007, American journal of medical genetics. Part A.

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Xiang-Dong Fu, Frank Baas, Murat Gunel, 2014, Cell.

Facial phenotype allows diagnosis of Mowat–Wilson syndrome in the absence of hirschsprung disease

Denise Horn, Bernhard Weschke, D. Horn, 2004, American journal of medical genetics. Part A.

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Reinhard Ullmann, Juliane Hoyer, Arif B Ekici, 2011, BMC Medical Genetics.