List of works - Dagmar Wieczorek

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

scientific article

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

scientific article

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

scientific article

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

scientific article published on 19 October 2014

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

article by Alexander Hoischen et al published 26 June 2011 in Nature Genetics

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

scientific article

Infectious and immunologic phenotype of MECP2 duplication syndrome

scientific article published on 27 February 2015

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

scientific article (publication date: July 2011)

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

scientific article

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I

scientific article

RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA

scientific article

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

scientific article

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

scientific article published in February 2003

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

scientific article

List of works by Dagmar Wieczorek

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

Infectious and immunologic phenotype of MECP2 duplication syndrome

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I

RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6