Publications by authors named "Miroslava Hancarova"

34Publications

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

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 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

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

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

Cell-free fetal DNA in maternal plasma during physiological single male pregnancies: methodology issues and kinetics.

Fetal Diagn Ther 2008 27;24(1):15-21. Epub 2008 May 27.

3rd Medical Department, Charles University, Pilsen, Czech Republic.

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http://dx.doi.org/10.1159/000132400DOI Listing
September 2008