Christiane Zweier
University of Erlangen-Nuremberg
PhenotypeMutationGeneticsIntellectual disabilityBiology
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Publications 131
#1Ghayda M. Mirzaa (Seattle Children's Research Institute)H-Index: 20
#2Jessica X. Chong (UW: University of Washington)H-Index: 19
Last. Michael J. Bamshad (UW: University of Washington)H-Index: 75
view all 76 authors...
Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. We sought to delineate the clinical, molecular, and neuroimaging spectrum of a novel neurodevelopmental disorder caused by variants in the zinc finger protein 292 gene (ZNF292). We ascertained a cohort of 28 families with ID due to putatively pathogenic ZNF292 variants that were identified via targeted and exome sequencing. Available data were analyzed to characterize the c...
#1Jonas Straub (FAU: University of Erlangen-Nuremberg)H-Index: 1
#2Anne Gregor (FAU: University of Erlangen-Nuremberg)H-Index: 6
Last. Christiane Zweier (FAU: University of Erlangen-Nuremberg)H-Index: 35
view all 9 authors...
Neurodevelopmental disorders (NDDs) are clinically and genetically extremely heterogeneous with shared phenotypes often associated with genes from the same networks. Mutations in TCF4, MEF2C, UBE3A, ZEB2 or ATRX cause phenotypically overlapping, syndromic forms of NDDs with severe intellectual disability, epilepsy and microcephaly. To characterize potential functional links between these genes/proteins, we screened for genetic interactions in Drosophila melanogaster. We induced ubiquitous or tis...
#1Gillian I. Rice (MAHSC: Manchester Academic Health Science Centre)H-Index: 38
#2Sehoon Park (Harvard University)
Last. Yanick J. Crow (Edin.: University of Edinburgh)H-Index: 60
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IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutieres syndrome and Singleton Merten syndrome. Ascertaining patients through a European and North American collaboration, we set out to describe the molecular, clinical and interferon status of a cohort of individuals with pathogenic heterozygous mutations in IFIH1. We identified 74 individuals from 51 families segregating a total of 27 like...
#1Bernt Popp (FAU: University of Erlangen-Nuremberg)H-Index: 12
#2Abbas Agaimy (FAU: University of Erlangen-Nuremberg)H-Index: 36
Last. Christiane Zweier (FAU: University of Erlangen-Nuremberg)H-Index: 35
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Background Several subunits of the SWI/SNF chromatin remodeling complex are implicated in both cancer and neurodevelopmental disorders (NDD). Though there is no clinical evidence for an increased tumor risk in individuals with NDDs due to germline mutations in most of these genes so far, this has been repeatedly proposed and discussed. A young woman with NDD due to a de novo mutation in ARID1B now presented with a large renal (> 19 cm in diameter) and multiple hepatic angiomyolipomas (AMLs) but ...
#1Lot Snijders Blok (Radboud University Nijmegen)H-Index: 4
#3Justine RousseauH-Index: 8
Last. Philippe M. Campeau (UdeM: Université de Montréal)H-Index: 29
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The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has now been corrected in both the PDF and HTML versions of the Article.
#1Maria J. Nabais Sa (Radboud University Nijmegen)
#2Hanka VenselaarH-Index: 30
Last. David A. Koolen (Radboud University Nijmegen)H-Index: 27
view all 30 authors...
To delineate the genotype–phenotype correlation in individuals with likely pathogenic variants in the CLTC gene. We describe 13 individuals with de novo CLTC variants. Causality of variants was determined by using the tolerance landscape of CLTC and computer-assisted molecular modeling where applicable. Phenotypic abnormalities observed in the individuals identified with missense and in-frame variants were compared with those with nonsense or frameshift variants in CLTC. All de novo variants wer...
#1Georgia Vasileiou (FAU: University of Erlangen-Nuremberg)H-Index: 6
#2Juliane Hoyer (FAU: University of Erlangen-Nuremberg)H-Index: 23
Last. Bernt Popp (FAU: University of Erlangen-Nuremberg)H-Index: 12
view all 17 authors...
OBJECTIVE 17q12 microdeletions containing HNF1B and intragenic variants within this gene are associated with variable developmental, endocrine, and renal anomalies, often already noted prenatally as hyperechogenic/cystic kidneys. Here, we describe prenatal and postnatal phenotypes of seven individuals with HNF1B aberrations and compare their clinical and genetic data to those of previous studies. METHODS Prenatal sequencing and postnatal chromosomal microarray analysis were performed in seven in...
#1Angela AbichtH-Index: 28
#2Teresa M. NeuhannH-Index: 11
Last. Elke Holinski-FederH-Index: 43
view all 7 authors...
In der genetischen Diagnostik geht der Weg von Einzelgenanalysen hin zu Genpanelanalysen, insbesondere bei seltenen genetischen Erkrankungen. Im Juli 2016 wurde mit einer Anderung des EBM (Einheitlicher Bewertungsmasstab) die Moglichkeit geschaffen, bei Patienten mit seltenen Erkrankungen im Rahmen der gesetzlichen Krankenversicherung genetische Analysen mittels „next generation sequencing“ (NGS) zu erbringen. Allerdings wurde die Mutationssuche in mehr als 25 Kilobasen (kb) kodierender Sequenz ...
#1Aia E. JønchH-Index: 3
#2Elise Douard (UdeM: Université de Montréal)H-Index: 1
Last. Sébastien Jacquemont (UdeM: Université de Montréal)H-Index: 24
view all 28 authors...
Background The 15q11.2 deletion is frequently identified in the neurodevelopmental clinic. Case–control studies have associated the 15q11.2 deletion with neurodevelopmental disorders, and clinical case series have attempted to delineate a microdeletion syndrome with considerable phenotypic variability. The literature on this deletion is extensive and confusing, which is a challenge for genetic counselling. The aim of this study was to estimate the effect size of the 15q11.2 deletion and quantify...
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