M. Hancarova

发表

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Richard A Marini, W. T. Harvey, Bradley P. Coe, 2020, Nature Communications.

Ethan M. Goldberg, A. Munnich, E. Goldberg, 2018, Genetics in Medicine.

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

E. Zackai, H. Hakonarson, Y. Barash, 2019, American journal of human genetics.

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

M. Trková, Z. Sedlacek, M. Kotrová, 2018, American journal of medical genetics. Part A.

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

Z. Sedlacek, M. Havlovicová, V. Stránecký, 2019, American journal of medical genetics. Part A.

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

R. Pfundt, C. Creuzot-Garcher, P. Calvas, 2016, European Journal of Human Genetics.

Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing

M. Trková, Z. Sedlacek, Z. Zemanová, 2011, Cytogenetic and Genome Research.

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

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

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

Richard A Marini, W. T. Harvey, B. Coe, 2020, Nature Communications.

Skin Lesions in a Boy With X-linked Lymphoproliferative Disorder: Comparison of 5 SH2D1A Deletion Cases

E. Mejstrikova, O. Hrusak, A. Šedivá, 2012, Pediatrics.

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Erez Lieberman Aiden, Ryan L. Collins, S. G. Temel, 2022, medRxiv.

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Marni J. Falk, Donna M. Martin, R. Pfundt, 2019, American journal of human genetics.

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.

Jacob C. Ulirsch, M. Daly, S. Orkin, 2015, The Journal of clinical investigation.

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

M. Trková, Z. Sedlacek, M. Havlovicová, 2014, Molecular Cytogenetics.

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

Z. Sedlacek, E. Seemanová, M. Hancarova, 2015, American journal of medical genetics. Part A.

Monozygotic Twins with 17q21.31 Microdeletion Syndrome

Z. Sedlacek, A. Kurg, Katrin Mannik, 2014, Twin Research and Human Genetics.

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

N. Tommerup, Z. Sedlacek, Z. Zemanová, 2018, Human mutation.

J. Sebat, C. Corsello, T. de Ravel, 2017, Journal of Medical Genetics.

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

Z. Sedlacek, A. Kurg, Katrin Mannik, 2013, American journal of medical genetics. Part A.

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.

M. Trková, Z. Sedlacek, M. Vlčková, 2013, Gene.

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

Z. Sedlacek, M. Vlčková, M. Hancarova, 2018, Cytogenetic and Genome Research.

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.

R. Redon, J. Honnorat, A. Toutain, 2021, American journal of human genetics.

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

K. Kawakami, S. Lalani, Z. Sedlacek, 2021, Genetics in Medicine.

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

C. Romano, E. Eichler, H. Firth, 2020, Genetics in Medicine.

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

K. Štěrbová, Z. Sedlacek, M. Havlovicová, 2017, BMC Medical Genetics.

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

N. Guex, N. Brown, W. Chung, 2021, American journal of human genetics.

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Richard M Myers, Gregory M Cooper, Susan M Hiatt, 2018, bioRxiv.

Chromosome 12q13.13 deletions involving the HOXC gene cluster: phenotype and candidate genes.

Z. Sedlacek, M. Havlovicová, M. Hancarova, 2013, European Journal of Medical Genetics.

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

J. Gécz, Ying Sun, S. Barry, 2015, Human molecular genetics.

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

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

Petr Novotny, Petr Novotný, Z. Sedlacek, 2019, BMC Medical Education.

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

M. Trková, Z. Sedlacek, M. Havlovicová, 2014, Molecular Cytogenetics.

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.

Z. Sedlacek, K. Hodaňová, H. Hartmannová, 2015, European journal of medical genetics.

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

Z. Sedlacek, V. Stránecký, M. Hancarova, 2019, Molecular genetics & genomic medicine.

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

Z. Sedlacek, M. Vlčková, M. Hancarova, 2015, American journal of medical genetics. Part A.

Cell-Free Fetal DNA in Maternal Plasma during Physiological Single Male Pregnancies: Methodology Issues and Kinetics

Z. U. Gallova, M. Korabečná, M. Hancarova, 2008, Fetal Diagnosis and Therapy.

A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: genotype-phenotype correlations, relevance for newborn screening and genetic testing.

M. Macek, M. Hancarova, H. Makukh, 2010, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

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

Z. Sedlacek, P. Hedvičáková, M. Vlčková, 2012, New biotechnology.

Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism

M. Trková, Z. Sedlacek, M. Havlovicová, 2016, Neuropsychiatric disease and treatment.

Monozygotic Twins with 17q21.31 Microdeletion Syndrome

Z. Sedlacek, A. Kurg, Katrin Mannik, 2014, Twin Research and Human Genetics.