Dagmar Wieczorek

Dagmar Wieczorek

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Dagmar Wieczorek

Dagmar Wieczorek

Publications by authors named "Dagmar Wieczorek"

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How I approach hereditary cancer predisposition in a child with cancer.

Pediatr Blood Cancer 2019 Nov 24;66(11):e27916. Epub 2019 Jul 24.

University Children's Hospital Augsburg, Swabian Children's Cancer Center, Augsburg, Germany.

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http://dx.doi.org/10.1002/pbc.27916DOI Listing
November 2019

Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia.

Genet Med 2019 Oct 22. Epub 2019 Oct 22.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-University, Düsseldorf, Germany.

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http://dx.doi.org/10.1038/s41436-019-0677-9DOI Listing
October 2019

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

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants.

Childs Nerv Syst 2019 Jul 29;35(7):1231-1237. Epub 2019 Apr 29.

Department of Neurology, Alfried Krupp von Bohlen und Halbach Hospital, Alfried-Krupp-Str. 21, 45117, Essen, Germany.

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http://dx.doi.org/10.1007/s00381-019-04145-9DOI Listing
July 2019

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

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement.

Eur J Med Genet 2019 Apr 12:103649. Epub 2019 Apr 12.

Heinrich-Heine-University, Medical Faculty, Institute of Human Genetics, Düsseldorf, Germany; Heinrich-Heine-University, Medical Faculty, Center of Rare Disorders, Düsseldorf, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.04.006DOI Listing
April 2019

Family-based germline sequencing in children with cancer.

Oncogene 2019 02 10;38(9):1367-1380. Epub 2018 Oct 10.

Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.

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http://dx.doi.org/10.1038/s41388-018-0520-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6755997PMC
February 2019

Penetrance and Expressivity in Inherited Cancer Predisposing Syndromes.

Trends Cancer 2018 11 20;4(11):718-728. Epub 2018 Sep 20.

Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S24058033183019
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http://dx.doi.org/10.1016/j.trecan.2018.09.002DOI Listing
November 2018

Autosomal dominant intellectual disability.

Authors:
Dagmar Wieczorek

Med Genet 2018 11;30(3):318-322. Epub 2018 Oct 11.

Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität, Universitätsstr. 1, 40225 Düsseldorf, Germany.

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http://dx.doi.org/10.1007/s11825-018-0206-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6223758PMC
October 2018

Isolated PREPL deficiency associated with congenital myasthenic syndrome-22.

Klin Padiatr 2018 09 18;230(5):281-283. Epub 2018 Jun 18.

Department of General Pediatrics, Heinrich-Heine-University, Duesseldorf, Germany.

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http://dx.doi.org/10.1055/a-0605-3659DOI Listing
September 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis.

PeerJ 2018 27;6:e4740. Epub 2018 Jun 27.

Biomedical Data Sciences, Leiden University Medical Center, Leiden, The Nederlands.

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http://dx.doi.org/10.7717/peerj.4740DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6029584PMC
June 2018

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.

Hum Genet 2018 May 23;137(5):401-411. Epub 2018 May 23.

Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany.

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http://dx.doi.org/10.1007/s00439-018-1892-1DOI Listing
May 2018

Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES.

Eur J Pediatr 2018 Jan 19;177(1):53-60. Epub 2017 Sep 19.

Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Moorenstr. 5, 40225, Duesseldorf, Germany.

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http://dx.doi.org/10.1007/s00431-017-2997-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5748429PMC
January 2018

Correction to: Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES.

Eur J Pediatr 2018 01;177(1):61

Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Moorenstr. 5, 40225, Duesseldorf, Germany.

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http://dx.doi.org/10.1007/s00431-017-3033-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6828017PMC
January 2018

Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated?

Mol Cell Pediatr 2017 Oct 5;4(1). Epub 2017 Oct 5.

Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Moorenstr. 5, 40225, Duesseldorf, Germany.

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http://dx.doi.org/10.1186/s40348-017-0075-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5629188PMC
October 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

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
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http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy.

Clin Dysmorphol 2016 Apr;25(2):73-6

aInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Duisburg and Essen bDepartment of Neonatology, Vest Children's Hospital Datteln, University Witten/Herdecke, Datteln cInstitute of Human Genetics, Biozentrum, University of Würzburg, Würzburg dDepartment of Obstetrics and Prenatal Medicine, University Bonn Medical School, Bonn eInstitute of Pathology, Charite - Universitaetsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000111DOI Listing
April 2016

Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment.

Epigenetics 2016 03 18;11(3):216-26. Epub 2016 Feb 18.

a Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen , Essen , Germany.

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http://dx.doi.org/10.1080/15592294.2016.1145330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4854546PMC
March 2016

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Am J Med Genet A 2016 Jan 11;170A(1):94-102. Epub 2015 Sep 11.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37378DOI Listing
January 2016

Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.

Cerebellum Ataxias 2015 16;2:19. Epub 2015 Dec 16.

Department of Neurology, Philipps University of Marburg, Baldinger straße, 53043 Marburg, Germany.

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http://dx.doi.org/10.1186/s40673-015-0038-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681123PMC
December 2015

Classification and visualization based on derived image features: application to genetic syndromes.

PLoS One 2014 18;9(11):e109033. Epub 2014 Nov 18.

Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0109033PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236018PMC
July 2015

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.

Am J Hum Genet 2015 May 23;96(5):765-74. Epub 2015 Apr 23.

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, MLC 4006, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1016/j.ajhg.2015.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570288PMC
May 2015

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Am J Hum Genet 2014 Dec;95(6):763-70

Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259972PMC
December 2014

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

Genet Med 2014 Sep 6;16(9):720-4. Epub 2014 Mar 6.

1] Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, CHU de Hautepierre, Strasbourg, France [2] Laboratoire de Génétique Médicale, INSERM U1112, Faculté de Médecine, Université de Strasbourg, Strasbourg, France [3] Current affiliation: Service de Génétique, CHU la Réunion, Hôpital Félix Guyon, Saint-Denis, France.

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http://dx.doi.org/10.1038/gim.2014.12DOI Listing
September 2014

Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature.

Dev Med Child Neurol 2014 Aug 12;56(8):732-41. Epub 2014 Mar 12.

Abteilung Neuropaediatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1111/dmcn.12425DOI Listing
August 2014

A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome.

Clin Dysmorphol 2014 Apr;23(2):67-70

aInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany bMedical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1097/MCD.0000000000000035DOI Listing
April 2014

160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.

Eur J Med Genet 2013 Dec 10;56(12):689-94. Epub 2013 Oct 10.

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.09.014DOI Listing
December 2013

Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation.

EMBO Mol Med 2013 Sep 22;5(9):1431-42. Epub 2013 Aug 22.

Laboratory for Novel Sequencing Technology, Functional and Medical Genomics, Berlin Institute for Medical Systems Biology, Max-Delbrueck-Center for Molecular Medicine, Berlin, Germany.

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http://dx.doi.org/10.1002/emmm.201302663DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3799496PMC
September 2013