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M. Havlovicová · SciRah

Researcher profile · Semantic Scholar

M. Havlovicová

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M. Havlovicová — researcher profile on SciRah

h-index: 21
Works: 68
Citations: 1,431

Most-cited papers

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
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
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
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
FOXP1-related intellectual disability syndrome: a recognisable entity
Ilse Meerschaut, D. Rochefort, N. Revencu, Justine Pètre +42 more
2017Journal of Medical Genetics68 citations Open access
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
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
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
H. Haijes, M. Koster, H. Rehmann, Dong Li +40 more
2019American Journal of Human Genetics57 citations Open access
Semantic Scholar
Brief Report: Significant Differences in Perceived Odor Pleasantness Found in Children with ASD
M. Hrdlička, J. Vodička, M. Havlovicová, T. Urbánek +2 more
2011Journal of Autism and Developmental Disorders50 citations
Semantic Scholar
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
G. Cappuccio, C. Sayou, Pauline Le Tanno, É. Tisserant +43 more
2020Genetics in Medicine48 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
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders
Michael Smith, Elizabeth Alexander, Ruta Marcinkute, Dorica Dan +24 more
2020Orphanet Journal of Rare Diseases30 citations Open access
Semantic Scholar
The importance of advanced parental age in the origin of neurofibromatosis type 1
M. Šnajderová, V. Riccardi, B. Petrák, D. Zemkova +8 more
2012American Journal of Medical Genetics. Part A29 citations
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
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
B. Yaldiz, Erdi Kucuk, J. Hampstead, T. Hofste +296 more
2023Human Genomics24 citations Open access
Semantic Scholar
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
J. Paděrová, Jana Drabova, A. Holubová, M. Vlčková +10 more
2018European Journal of Medical Genetics24 citations
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
Assisted reproductive techniques and pregnancy results in women with Mayer-Rokitansky-Küster-Hauser syndrome undergoing uterus transplantation: the Czech experience.
Roman Chmel, M. Cekal, Z. Pastor, P. Paulasova +3 more
2020Journal of Pediatric and Adolescent Gynecology22 citations
Semantic Scholar
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring
J. Paděrová, A. Holubová, Martina Simandlová, A. Puchmajerová +12 more
2016Clinical Genetics22 citations
Semantic Scholar
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes
J. Čopíková, J. Paděrová, Věra Románková, M. Havlovicová +15 more
2020Annals of Human Genetics19 citations
Semantic Scholar
The Key Role of Purine Metabolism in the Folate-Dependent Phenotype of Autism Spectrum Disorders: An In Silico Analysis
J. Géryk, Daniel Krsička, M. Vlčková, M. Havlovicová +2 more
2020Metabolites18 citations Open access
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
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
Julia Brinkmann, Christina Lissewski, V. Pinna, Y. Vial +21 more
2020European Journal of Human Genetics14 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
Identification of likely associations between cerebral folate deficiency and complex genetic‐ and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach
Daniel Krsička, J. Géryk, M. Vlčková, M. Havlovicová +2 more
2017Autism Research12 citations
Semantic Scholar
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Tianyun Wang, K. Hoekzema, D. Vecchio, Hui-Dan Wu +67 more
2020Nature Communications10 citations Open access
Semantic Scholar
Chromosome 12q13.13 deletions involving the HOXC gene cluster: phenotype and candidate genes.
M. Hančárová, Martina Simandlová, Jana Drabova, B. Petrák +3 more
2013European Journal of Medical Genetics10 citations
Semantic Scholar
Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.
G. Calounova, D. Novotná, Martina Simandlová, M. Havlovicová +3 more
2006Neuro - endocrinology letters10 citations
Semantic Scholar
Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom
Alessia Costa, V. Franková, G. Robert, M. Macek +11 more
2022Journal of Community Genetics8 citations Open access
Semantic Scholar
Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders
Chelsea Lowther, M. Mehrjouy, Ryan L. Collins, M. Bak +151 more
2022medRxiv8 citations Open access
Semantic Scholar
Zimmermann–Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth—A case report of a novel KCNN3 gene variant
M. Schwarz, L. Ryba, A. Křepelová, V. Moslerová +7 more
2021American Journal of Medical Genetics. Part A8 citations
Semantic Scholar
A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
A. Denommé-Pichon, L. Matalonga, Elke de Boer, A. Jackson +43 more
2023Genetics in Medicine6 citations Open access
Semantic Scholar
FMR1 gene expansion, large deletion of Xp, and skewed X‐inactivation in a girl with mental retardation and autism
Alzbeta Vazna, Z. Mušová, M. Vlčková, D. Novotná +4 more
2010American Journal of Medical Genetics. Part A5 citations Open access
Semantic Scholar
Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman.
A. Zumrová, R. Mazanec, M. Vyhnálek, A. Křepelová +4 more
2005Neuro - endocrinology letters5 citations
Semantic Scholar
Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders
Valentin Ruault, Pauline Burger, Johanna Gradels‐Hauguel, Nathalie Ruiz +81 more
2024Molecular Genetics & Genomic Medicine4 citations Open access
Semantic Scholar
Body mass index is an overlooked confounding factor in existing clustering studies of 3D facial scans of children with autism spectrum disorder
M. Schwarz, Jan Geryk, M. Havlovicová, Michaela Mihulová +8 more
2024Scientific Reports4 citations Open access
Semantic Scholar
A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications
Jana Drabova, M. Trková, M. Hančárová, D. Novotná +3 more
2014Molecular Cytogenetics3 citations Open access
Semantic Scholar
Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn’s disease
M. Schwarz, Matej Gazdarica, E. Froňková, M. Svatoň +4 more
2024Molecular Biology Reports2 citations
Semantic Scholar
Modeling age‐specific facial development in Williams–Beuren‐, Noonan‐, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3–18 years: A cross‐sectional three‐dimensional geometric morphometry analysis of their facial gestalt
Martina Čaplovičová, V. Moslerová, J. Dupej, M. Macek +4 more
2018American Journal of Medical Genetics. Part A2 citations
Semantic Scholar
Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism
Z. Mušová, M. Hančárová, M. Havlovicová, R. Pourová +5 more
2016Neuropsychiatric Disease and Treatment2 citations Open access
Semantic Scholar
Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis.
M. Hubácek, T. Kripnerova, Michaela Němčíková, A. Křepelová +7 more
2016Neuro - endocrinology letters2 citations
Semantic Scholar
[Genetic study of 20 patients with autism disorders].
M. Havlovicová, L. Propper, D. Novotná, Z. Mušová +2 more
2002Casopis lekaru ceskych2 citations
Semantic Scholar
[DNA diagnosis of the fragile X chromosome syndrome--FRAXA using PCR].
A. Boday, V. Mat'oška, V. Konrádová, M. Havlovicová +3 more
1998Casopis lekaru ceskych2 citations
Semantic Scholar
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy
L. Dudakova, L. Nosková, S. Kmoch, Martin Filipec +12 more
2024Human Mutation1 citations Open access
Semantic Scholar
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Elke de Boer, C. Ockeloen, L. Matalonga, R. Horvath +72 more
2021European Journal of Human Genetics1 citations Open access
Semantic Scholar
Unique characteristics of informed consent in clinical genetics and genetic counselling.
M. Havlovicová, V. Curtisová, I. Šubrt
2019Casopis lekaru ceskych1 citations
Semantic Scholar
[Hereditary breast cancer: genetic etiology and current possibilities of prevention and surgical treatment].
A. Puchmajerová, J. Tornikidis, L. Mrňa, M. Havlovicová +4 more
2019Casopis lekaru ceskych1 citations
Semantic Scholar
[Case reports of patients with a marker chromosome].
E. Kocárek, D. Novotná, T. Maříková, I. Cernakova +5 more
2004Casopis lekaru ceskych1 citations
Semantic Scholar

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