Christiane Zweier

Medizinische Fakultät

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature (2018) Hauer N, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, et al. Journal article De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder (2018) Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, et al. Journal article Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila (2018) Straub J, Konrad E, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, et al. Journal article 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 (2018) Jung M, Häberle B, Tschaikowsky T, Wittmann MT, Balta EA, Stadler VC, Zweier C, et al. Journal article Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment (2017) Reuter M, Krumbiegel M, Schlueter G, Ekici AB, Reis A, Zweier C Journal article Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome (2017) Kasper B, Dörfler A, Di Donato N, Kasper EM, Wieczorek D, Hoyer J, Zweier C Journal article FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum (2017) Reuter M, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, et al. Journal article STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability (2017) Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, et al. Journal article Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders (2017) Reuter M, Tawamie H, Buchert R, Gebril OH, Froukh T, Thiel C, Uebe S, et al. Journal article Exome Pool-Seq in neurodevelopmental disorders (2017) Popp B, Ekici AB, Thiel C, Hoyer J, Wiesener A, Kraus C, Reis A, Zweier C Journal article