Publications by authors named "Zdenek Sedláček"

55Publications

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Nat Commun 2020 Oct 21;11(1):5398. Epub 2020 Oct 21.

Department of Genome Sciences, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41467-020-19289-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7578800PMC
October 2020

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Nat Commun 2020 10 1;11(1):4932. Epub 2020 Oct 1.

Department of Genome Sciences, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41467-020-18723-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7530681PMC
October 2020

Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier.

Parkinsonism Relat Disord 2020 Aug 29;77:87-88. Epub 2020 Jun 29.

Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.parkreldis.2020.06.028DOI Listing
August 2020

Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular genetics.

BMC Med Educ 2019 Oct 24;19(1):390. Epub 2019 Oct 24.

Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, V Uvalu 84, 150 06, Prague, Czech Republic.

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http://dx.doi.org/10.1186/s12909-019-1817-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6813102PMC
October 2019

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

Am J Hum Genet 2019 11 3;105(5):987-995. Epub 2019 Oct 3.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Laboratory of Rare Disease Research, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848994PMC
November 2019

Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome.

Am J Med Genet A 2019 10 1;179(10):2119-2123. Epub 2019 Aug 1.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1002/ajmg.a.61302DOI Listing
October 2019

A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype.

Mol Genet Genomic Med 2019 09 23;7(9):e865. Epub 2019 Jul 23.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1002/mgg3.865DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732288PMC
September 2019

Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers.

Cytogenet Genome Res 2018 9;154(4):187-195. Epub 2018 May 9.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1159/000488790DOI Listing
July 2018

Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres.

Am J Med Genet A 2018 06 25;176(6):1438-1442. Epub 2018 Apr 25.

Department of Biology and Medical Genetics, 2nd Faculty of Medicine and University Hospital Motol, Charles University, Prague, Czech Republic.

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http://dx.doi.org/10.1002/ajmg.a.38711DOI Listing
June 2018

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly.

Hum Mutat 2018 05 20;39(5):709-716. Epub 2018 Feb 20.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1002/humu.23408DOI Listing
May 2018

Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.

BMC Med Genet 2017 06 2;18(1):62. Epub 2017 Jun 2.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Plzenska 130/221, 15000, Prague 5, Czech Republic.

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http://dx.doi.org/10.1186/s12881-017-0425-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457574PMC
June 2017

A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes.

Eur J Med Genet 2015 Oct 11;58(10):550-5. Epub 2015 Sep 11.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.ejmg.2015.09.004DOI Listing
October 2015

Hypophosphatasia due to uniparental disomy.

Bone 2015 Dec 1;81:765-766. Epub 2015 May 1.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.bone.2015.04.041DOI Listing
December 2015

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.

Hum Mol Genet 2015 Jun 3;24(12):3335-47. Epub 2015 Mar 3.

School of Paediatrics and Reproductive Health, Robinson Research Institute and School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide 5000, Australia,

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http://dx.doi.org/10.1093/hmg/ddv083DOI Listing
June 2015

Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8.

Am J Med Genet A 2015 Apr 3;167A(4):837-41. Epub 2015 Mar 3.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1002/ajmg.a.36957DOI Listing
April 2015

A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications.

Mol Cytogenet 2014 19;7:51. Epub 2014 Aug 19.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1186/1755-8166-7-51DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236861PMC
November 2014

Deletions of 9q21.3 including NTRK2 are associated with severe phenotype.

Am J Med Genet A 2015 Jan 27;167A(1):264-7. Epub 2014 Oct 27.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1002/ajmg.a.36797DOI Listing
January 2015

Monozygotic twins with 17q21.31 microdeletion syndrome.

Twin Res Hum Genet 2014 Oct 9;17(5):405-10. Epub 2014 Jun 9.

Department of Biology and Medical Genetics,Charles University 2nd Faculty of Medicine and University Hospital Motol,Prague,Czech Republic.

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http://dx.doi.org/10.1017/thg.2014.29DOI Listing
October 2014

A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome.

Am J Med Genet A 2013 Apr 12;161A(4):865-70. Epub 2013 Mar 12.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1002/ajmg.a.35783DOI Listing
April 2013

Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.

Gene 2013 Mar 22;516(1):158-61. Epub 2012 Dec 22.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.gene.2012.12.027DOI Listing
March 2013

Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients.

Cerebellum 2013 Apr;12(2):155-61

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1007/s12311-012-0403-5DOI Listing
April 2013

Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases.

Pediatrics 2012 Feb 23;129(2):e523-8. Epub 2012 Jan 23.

Department of Pediatric Hematology and Oncology, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1542/peds.2011-0870DOI Listing
February 2012

Molecular genetic analysis of 103 sporadic colorectal tumours in Czech patients.

PLoS One 2011 25;6(8):e24114. Epub 2011 Aug 25.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0024114PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3162034PMC
April 2012

Increased sperm aneuploidy in two male carriers of germline TP53 mutations.

Cancer Genet 2011 May;204(5):278-81

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.cancergen.2011.03.003DOI Listing
May 2011

Odor detection threshold, but not odor identification, is impaired in children with autism.

Eur Child Adolesc Psychiatry 2011 Jul 29;20(7):333-40. Epub 2011 Apr 29.

Department of Child Psychiatry, 2nd Faculty of Medicine, Charles University, V Uvalu 84, 15006, Prague, Czech Republic.

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http://dx.doi.org/10.1007/s00787-011-0177-1DOI Listing
July 2011

Array comparative genome hybridization in patients with developmental delay: two example cases.

N Biotechnol 2012 Feb 20;29(3):321-4. Epub 2010 Oct 20.

Department of Biology and Medical Genetics, Charles University, 2nd Faculty of Medicine and University Hospital Motol, V Uvalu 84, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.nbt.2010.10.006DOI Listing
February 2012

FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism.

Am J Med Genet A 2010 May;152A(5):1273-7

Department of Biology and Medical Genetics, Charles University, 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://doi.wiley.com/10.1002/ajmg.a.33352
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http://dx.doi.org/10.1002/ajmg.a.33352DOI Listing
May 2010

The TP53 gene promoter is not methylated in families suggestive of Li-Fraumeni syndrome with no germline TP53 mutations.

Cancer Genet Cytogenet 2009 Aug;193(1):63-6

Department of Biology and Medical Genetics, Charles University 2nd Medical School and University Hospital Motol, Vuvalu 84, 15006 Prague 5, Czech Republic.

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http://dx.doi.org/10.1016/j.cancergencyto.2009.04.014DOI Listing
August 2009

Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene.

Am J Med Genet A 2009 Jul;149A(7):1365-74

Department of Biology and Medical Genetics, Charles University 2nd Medical School and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1002/ajmg.a.32987DOI Listing
July 2009

Somatic TP53 mutation mosaicism in a patient with Li-Fraumeni syndrome.

Am J Med Genet A 2009 Feb;149A(2):206-11

Department of Biology and Medical Genetics, Charles University 2nd Medical School and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1002/ajmg.a.32574DOI Listing
February 2009

Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q.

Am J Med Genet A 2008 Aug;146A(15):1955-62

Department of Biology and Medical Genetics, Charles University 2nd Medical School and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1002/ajmg.a.32416DOI Listing
August 2008

A rare tumor and an ethical dilemma in a family with a germline TP53 mutation.

Cancer Genet Cytogenet 2008 Jan;180(1):65-9

Department of Biology and Medical Genetics, Charles University 2nd Medical School and University Hospital Motol, Vuvalu 84, 15006 Prague 5, Czech Republic.

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http://dx.doi.org/10.1016/j.cancergencyto.2007.09.015DOI Listing
January 2008

Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism.

Gene 2008 Jan 13;407(1-2):186-92. Epub 2007 Oct 13.

Department of Biology and Medical Genetics, Charles University 2nd Medical School and University Hospital Motol, V uvalu 84, Prague 5, Czech Republic.

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http://dx.doi.org/10.1016/j.gene.2007.10.009DOI Listing
January 2008

Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age.

Cancer 2007 Aug;110(3):694-702

Department of Biology and Medical Genetics, Charles University 2nd Medical School and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1002/cncr.22834DOI Listing
August 2007

A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17.

Am J Med Genet A 2007 Jan;143A(1):76-81

Institute of Biology and Medical Genetics, Charles University Second Medical School and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1002/ajmg.a.31569DOI Listing
January 2007

Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.

Neuro Endocrinol Lett 2006 Oct;27(5):579-85

Institute of Biology and Medical Genetics, Charles University Second Medical School and University Hospital Motol, Prague, Czech Republic.

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October 2006

A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: further evidence for possible bias in retroposon integration.

Biochem Biophys Res Commun 2006 Aug 21;347(1):145-9. Epub 2006 Jun 21.

Institute of Biology and Medical Genetics, Charles University Second Medical School and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.bbrc.2006.06.071DOI Listing
August 2006

TP53 gene mutations are rare in nondysplastic Barrett's esophagus.

Dig Dis Sci 2006 Jan;51(1):110-3

Institute of Biology and Medical Genetics, Charles University Second Medical School, 15006, Prague 5, Czech Republic.

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http://dx.doi.org/10.1007/s10620-006-3093-3DOI Listing
January 2006

Analysis of genetic events in 17p13 and 9p21 regions supports predominant monoclonal origin of multifocal and recurrent bladder cancer.

Cancer Lett 2006 Oct 15;242(1):68-76. Epub 2005 Dec 15.

Institute of Biology and Medical Genetics, Charles University Second Medical School, V uvalu 84, 15006 Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.canlet.2005.10.036DOI Listing
October 2006

Subtypes of autism by cluster analysis based on structural MRI data.

Eur Child Adolesc Psychiatry 2005 May;14(3):138-44

Department of Child Psychiatry, Charles University, 2nd Medical School, V Uvalu 84, 15006 Prague, Czech Republic.

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http://dx.doi.org/10.1007/s00787-005-0453-zDOI Listing
May 2005

Not EEG abnormalities but epilepsy is associated with autistic regression and mental functioning in childhood autism.

Eur Child Adolesc Psychiatry 2004 Aug;13(4):209-13

Department of Child Psychiatry, Charles University, 2nd Medical School, V Uvalu 84, 15006 Prague, Czech Republic.

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http://dx.doi.org/10.1007/s00787-004-0353-7DOI Listing
August 2004

A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors.

Cancer Genet Cytogenet 2003 Aug;145(1):60-4

Institute of Biology and Medical Genetics, Second Medical School, Charles University, Prague, Czech Republic.

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http://dx.doi.org/10.1016/s0165-4608(03)00031-1DOI Listing
August 2003

Is there anticipation in the age at onset of cancer in families with Li-Fraumeni syndrome?

J Hum Genet 2002 ;47(8):381-6

Institute of Biology and Medical Genetics, Second Medical School, Charles University, V uvalu 84, 15006 Prague 5, Czech Republic.

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http://dx.doi.org/10.1007/s100380200055DOI Listing
October 2002