Christiane Zweier

Christiane Zweier

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Christiane Zweier

Christiane Zweier

Publications by authors named "Christiane Zweier"

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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2019 Nov 14. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
November 2019

Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders.

Biol Psychiatry 2019 Aug 9;86(4):294-305. Epub 2019 May 9.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.04.029DOI Listing
August 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability.

BMC Cancer 2019 May 10;19(1):435. Epub 2019 May 10.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1186/s12885-019-5633-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511147PMC
May 2019

Intellectual disability and autism spectrum disorders 'on the fly': insights from .

Dis Model Mech 2019 05 13;12(5). Epub 2019 May 13.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands

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http://dx.doi.org/10.1242/dmm.039180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550041PMC
May 2019

TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma.

Acta Neuropathol 2019 Apr 4;137(4):657-673. Epub 2019 Mar 4.

Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1007/s00401-019-01982-5DOI Listing
April 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019

Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.

Am J Med Genet A 2018 12 18;176(12):2872-2876. Epub 2018 Nov 18.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.40640
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http://dx.doi.org/10.1002/ajmg.a.40640DOI Listing
December 2018

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

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http://www.nature.com/articles/gim2017221
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http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.

Eur J Med Genet 2018 Jul 31;61(7):363-368. Epub 2018 Jan 31.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2018.01.016DOI Listing
July 2018

Exome Pool-Seq in neurodevelopmental disorders.

Eur J Hum Genet 2017 12 20;25(12):1364-1376. Epub 2017 Nov 20.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.

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http://dx.doi.org/10.1038/s41431-017-0022-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865117PMC
December 2017

Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment.

Am J Med Genet A 2017 Aug 24;173(8):2231-2234. Epub 2017 May 24.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38288DOI Listing
August 2017

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.

Epilepsy Behav 2017 04 23;69:104-109. Epub 2017 Feb 23.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

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http://dx.doi.org/10.1016/j.yebeh.2017.01.022DOI Listing
April 2017

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

Eur J Med Genet 2016 Oct 7;59(10):549-53. Epub 2016 Sep 7.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2016.09.002DOI Listing
October 2016

Zeb2 recruits HDAC-NuRD to inhibit Notch and controls Schwann cell differentiation and remyelination.

Nat Neurosci 2016 08 13;19(8):1060-72. Epub 2016 Jun 13.

Department of Pediatrics, Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1038/nn.4322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4961522PMC
August 2016

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.

Am J Hum Genet 2016 Jan;98(1):149-64

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, 6525 GA Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.11.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716705PMC
January 2016

A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.

Genet Res (Camb) 2015 Oct 6;97:e19. Epub 2015 Oct 6.

Department of Human Genetics,Radboud Institute for Molecular Life Sciences,Radboud University Medical Center,Nijmegen,the Netherlands.

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http://search.proquest.com/openview/8ede737de502b58a849f6a74
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http://www.journals.cambridge.org/abstract_S001667231500021X
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http://dx.doi.org/10.1017/S001667231500021XDOI Listing
October 2015

Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling.

Am J Hum Genet 2015 Sep;97(3):445-56

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Nikolaus-Fiebiger-Center for Molecular Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2015.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564991PMC
September 2015

Altered GPM6A/M6 dosage impairs cognition and causes phenotypes responsive to cholesterol in human and Drosophila.

Hum Mutat 2014 Dec;35(12):1495-505

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/humu.22697DOI Listing
December 2014

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

Gene 2014 Mar 16;538(1):30-5. Epub 2014 Jan 16.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands; Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2014.01.027DOI Listing
March 2014

Biallelic SEMA3A defects cause a novel type of syndromic short stature.

Am J Med Genet A 2013 Nov 3;161A(11):2880-9. Epub 2013 Oct 3.

Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36250DOI Listing
November 2013

Human intellectual disability genes form conserved functional modules in Drosophila.

PLoS Genet 2013 Oct 31;9(10):e1003911. Epub 2013 Oct 31.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1371/journal.pgen.1003911DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3814316PMC
October 2013

De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies.

Am J Med Genet A 2012 Jul 7;158A(7):1765-70. Epub 2012 Jun 7.

Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.35427
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http://dx.doi.org/10.1002/ajmg.a.35427DOI Listing
July 2012

Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome.

Am J Med Genet A 2012 Apr 1;158A(4):713-9. Epub 2012 Mar 1.

NSW Centre for Rett Syndrome Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, NSW, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.34206
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http://dx.doi.org/10.1002/ajmg.a.34206DOI Listing
April 2012

Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.

Eur J Med Genet 2011 May-Jun;54(3):256-61. Epub 2011 Feb 17.

Institute of Human Genetics, University Hospital Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2011.02.002DOI Listing
September 2011

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

J Med Genet 2010 May 30;47(5):321-31. Epub 2009 Nov 30.

Institute of Medical Genetics, Schorenstrasse 16, CH-8603 Zurich-Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1136/jmg.2009.070391DOI Listing
May 2010

New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.

Ann Hum Genet 2009 May 25;73(Pt 3):283-91. Epub 2009 Mar 25.

Institute of Human Genetics, Medical Faculty at the University of Leipzig, Leipzig, Germany.

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http://dx.doi.org/10.1111/j.1469-1809.2009.00508.xDOI Listing
May 2009

A 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndrome.

Eur J Med Genet 2008 Jul-Aug;51(4):358-61. Epub 2008 Feb 8.

Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120800022
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http://dx.doi.org/10.1016/j.ejmg.2008.01.005DOI Listing
October 2008

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

Am J Med Genet A 2006 Jun;140(11):1223-7

Institute of Human Genetics, University of Leipzig--Medical Faculty, Leipzig, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31267DOI Listing
June 2006

Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.

Am J Med Genet A 2006 Apr;140(8):869-72

Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31196DOI Listing
April 2006