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Z. Sedlacek · SciRah

Researcher profile · Semantic Scholar

Z. Sedlacek

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Z. Sedlacek — researcher profile on SciRah

h-index: 28
Works: 107
Citations: 11K

Most-cited papers

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.
M. MacDonald, C. Ambrose, M. Duyao, R. Myers +54 more
1993Cell8,442 citations Open access
Semantic Scholar
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Tianyun Wang, K. Hoekzema, D. Vecchio, Hui-Dan Wu +67 more
2020Nature Communications187 citations Open access
Semantic Scholar
Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains
Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P. Coe +36 more
2017Nature Neuroscience174 citations Open access
Semantic Scholar
Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene
Z. Mušová, R. Mazanec, A. Křepelová, E. Ehler +8 more
2009American Journal of Medical Genetics. Part A153 citations
Semantic Scholar
A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3"-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression.
J. F. Coy, Z. Sedlacek, Dietmar Bächner, H. Delius +1 more
1999Human Molecular Genetics150 citations
Semantic Scholar
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.
Anindita Basak, M. Hančárová, J. Ulirsch, T. Balci +11 more
2015Journal of Clinical Investigation143 citations Open access
Semantic Scholar
Not EEG abnormalities but epilepsy is associated with autistic regression and mental functioning in childhood autism
M. Hrdlička, V. Komárek, L. Propper, R. Kulisek +6 more
2004European Child and Adolescent Psychiatry120 citations
Semantic Scholar
Odor detection threshold, but not odor identification, is impaired in children with autism
I. Dudová, J. Vodička, M. Havlovicová, Z. Sedlacek +2 more
2011European Child and Adolescent Psychiatry101 citations Open access
Semantic Scholar
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy
Lise Barbé, Stella Lanni, A. López-Castel, S. Franck +18 more
2017American Journal of Human Genetics98 citations Open access
Semantic Scholar
Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations.
V. Krutílková, M. Trková, J. Fleitz, V. Gregor +10 more
2005European Journal of Cancer85 citations
Semantic Scholar
Subtypes of autism by cluster analysis based on structural MRI data
M. Hrdlička, I. Dudová, I. Beranova, J. Lisý +8 more
2005European Child and Adolescent Psychiatry78 citations
Semantic Scholar
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
L. Jolly, L. Nguyen, Deepti Domingo, Ying Sun +11 more
2015Human Molecular Genetics61 citations Open access
Semantic Scholar
Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age
M. Trková, Kamila Prochazkova, V. Krutílková, D. Sumerauer +1 more
2007Cancer60 citations
Semantic Scholar
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
S. El Chehadeh, W. Kerstjens-Frederikse, J. Thevenon, P. Kuentz +26 more
2016European Journal of Human Genetics59 citations Open access
Semantic Scholar
Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours.
Z. Sedlacek, R. Kodet, V. Kříž, E. Seemanová +5 more
1998British Journal of Cancer51 citations Open access
Semantic Scholar
Is there anticipation in the age at onset of cancer in families with Li-Fraumeni syndrome?
M. Trková, M. Hladíková, P. Kasal, P. Goetz +1 more
2002Journal of Human Genetics45 citations
Semantic Scholar
Molecular Genetic Analysis of 103 Sporadic Colorectal Tumours in Czech Patients
P. Vasovčák, K. Pavlíková, Z. Sedlacek, P. Skapa +3 more
2011PLoS ONE42 citations Open access
Semantic Scholar
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
M. Hančárová, Martina Simandlová, Jana Drabova, Katrin Mannik +2 more
2013American Journal of Medical Genetics. Part A41 citations Open access
Semantic Scholar
A database of germline p53 mutations in cancer-prone families
Z. Sedlacek, R. Kodet, A. Poustka, P. Goetz
1998Nucleic Acids Res.40 citations Open access
Semantic Scholar
Somatic TP53 mutation mosaicism in a patient with Li–Fraumeni syndrome
Kamila Prochazkova, K. Pavlíková, Marek Minarik, D. Sumerauer +2 more
2009American Journal of Medical Genetics. Part A38 citations
Semantic Scholar
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Dong Li, Qin Wang, Allan Bayat, M. Battig +149 more
2023Journal of Clinical Investigation35 citations Open access
Semantic Scholar
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
M. Jeanne, Hélène Demory, Aubin Moutal, M. Vuillaume +37 more
2021American Journal of Human Genetics31 citations Open access
Semantic Scholar
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.
M. Vlčková, Martina Simandlová, P. Zimmermann, V. Stránecký +6 more
2015European Journal of Medical Genetics31 citations
Semantic Scholar
Human and mouse XAP-5 and XAP-5-like (X5L) genes: identification of an ancient functional retroposon differentially expressed in testis.
Z. Sedlacek, Ewald Münstermann, S. Dhorne-Pollet, C. Otto +3 more
1999Genomics31 citations
Semantic Scholar
A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: further evidence for possible bias in retroposon integration.
Z. Mušová, P. Hedvičáková, Marketa Mohrmann, M. Tesařová +3 more
2006Biochemical and Biophysical Research Communications - BBRC29 citations
Semantic Scholar
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
N. Voisin, R. Schnur, S. Douzgou, S. Hiatt +64 more
2021American Journal of Human Genetics28 citations Open access
Semantic Scholar
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
S. Hiatt, M. Neu, R. Ramaker, Andrew A. Hardigan +29 more
2018bioRxiv26 citations Open access
Semantic Scholar
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
Darina Prchalova, M. Havlovicová, K. Sterbova, V. Stránecký +2 more
2017BMC Medical Genetics26 citations Open access
Semantic Scholar
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
Kamila Prochazkova, Petr Novotný, M. Hančárová, Darina Prchalova +1 more
2019BMC Medical Education25 citations Open access
Semantic Scholar
A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17
M. Havlovicová, D. Novotná, E. Kocárek, K. Novotná +4 more
2007American Journal of Medical Genetics. Part A24 citations Open access
Semantic Scholar
TP53 Gene Mutations Are Rare in Nondysplastic Barrett's Esophagus
K. Novotná, M. Trková, A. Pazdro, M. Smejkal +4 more
2006Digestive Diseases and Sciences22 citations
Semantic Scholar
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
Fuad Chowdhury, Lei Wang, M. Al-Raqad, D. Amor +40 more
2021Genetics in Medicine21 citations Open access
Semantic Scholar
Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly
Z. Slámová, Lusine Nazaryan-Petersen, M. Mehrjouy, Jana Drabova +9 more
2018Human Mutation21 citations Open access
Semantic Scholar
A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors.
M. Trková, L. Foretova, R. Kodet, P. Hedvičáková +1 more
2003Cancer Genetics and Cytogenetics20 citations
Semantic Scholar
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Sarah K Fiordaliso, Aiko Iwata-Otsubo, Alyssa L. Ritter, Mathieu Quesnel-Vallières +33 more
2019American Journal of Human Genetics19 citations Open access
Semantic Scholar
A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia
Z. Mušová, M. Kaiserová, E. Kriegová, R. Fillerova +7 more
2014Cerebellum19 citations
Semantic Scholar
Spinocerebellar Ataxias Type 8, 12, and 17 and Dentatorubro-Pallidoluysian Atrophy in Czech Ataxic Patients
Z. Mušová, Z. Sedlacek, R. Mazanec, J. Klempíř +7 more
2013Cerebellum17 citations
Semantic Scholar
Molecular and clinical characterization of two patients with Prader–Willi syndrome and atypical deletions of proximal chromosome 15q
G. Calounova, P. Hedvičáková, E. Šilhánová, Gabriela Křečková +1 more
2008American Journal of Medical Genetics. Part A17 citations
Semantic Scholar
A rare tumor and an ethical dilemma in a family with a germline TP53 mutation.
Kamila Prochazkova, L. Foretova, Z. Sedlacek
2008Cancer Genetics and Cytogenetics17 citations
Semantic Scholar
Methylation changes in promoter and enhancer regions of the WT1 gene in Wilms' tumours.
J. Mareš, Vı́tězslav Křı́ž, A. Weinhäusel, Šárka Vodičková +4 more
2001Cancer Letters17 citations
Semantic Scholar
Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier.
J. Necpál, M. Zech, A. Valachová, Z. Sedlacek +5 more
2020Parkinsonism & Related Disorders16 citations
Semantic Scholar
Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome
M. Hančárová, M. Havlovicová, M. Putzová, J. Všetička +3 more
2019American Journal of Medical Genetics. Part A16 citations
Semantic Scholar
Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23
S. Brisset, Z. Slámová, P. Dusatkova, A. Briand-Suleau +11 more
2014Molecular Cytogenetics16 citations Open access
Semantic Scholar
Direct selection of DNA sequences conserved between species.
Z. Sedlacek, D. Konecki, Renate Siebenhaar, P. Kioschis +1 more
1993Nucleic Acids Research16 citations Open access
Semantic Scholar
Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism.
Alzbeta Vazna, M. Havlovicová, Z. Sedlacek
2008Gene14 citations
Semantic Scholar
Analysis of genetic events in 17p13 and 9p21 regions supports predominant monoclonal origin of multifocal and recurrent bladder cancer.
M. Trková, M. Babjuk, J. Dušková, Lucie Benesova-Minarikova +4 more
2006Cancer Letters14 citations
Semantic Scholar
Deletions of 9q21.3 including NTRK2 are associated with severe phenotype
M. Hančárová, A. Puchmajerová, Jana Drabova, E. Karaskova +2 more
2015American Journal of Medical Genetics. Part A12 citations
Semantic Scholar
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. Hančárová, Š. Vejvalková, M. Trková, Jana Drabova +3 more
2013Gene12 citations
Semantic Scholar
The amphioxus rab GDP-dissociation inhibitor (GDI) gene is neural-specific: implications for the evolution of chordate rab GDI genes.
Z. Sedlacek, S. Shimeld, Ewald Münstermann, A. Poustka
1999Molecular biology and evolution12 citations Open access
Semantic Scholar
Skin Lesions in a Boy With X-linked Lymphoproliferative Disorder: Comparison of 5 SH2D1A Deletion Cases
E. Mejstříková, A. Janda, O. Hrušák, H. Bučková +12 more
2012Pediatrics11 citations
Semantic Scholar

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