E Seemanová

6.0k citations

92 papers · 3.4k indexed · 1 hit paper · h-index 30

Developmental Biology top 2%
Cancer Research top 2%
- Carcinogens and Genotoxicity Assessment 18
Genetics top 2%
- Genomic variations and chromosomal abnormalities 12
- Genetics and Neurodevelopmental Disorders 11
- Genetic Syndromes and Imprinting 7
Molecular Biology top 5%
- DNA Repair Mechanisms 21
Oncology top 5%
- Cancer-related Molecular Pathways 8
Clinical Biochemistry
- Metabolism and Genetic Disorders 7
Plant Science
- Plant Genetic and Mutation Studies 6

Co-authors: Karl Sperling Raymonda Varon Krystyńa Chrzańowska Martin Digweed André Reis Corry M.R. Weemaes Markus Stümm Kathrin Saar
Cited by: Developmental Biology Cancer Research Genetics
Journals: Human Genetics (7 papers)European Journal of Human Genetics (5 papers)Journal of Inherited Metabolic Disease (2 papers)
Partner nations: Czechia Germany United States

In The Last Decade

E Seemanová

88 papers receiving 3.3k citations

Hit Papers

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Peers

Countries citing papers authored by E Seemanová

Since Specialization

Citations

This map shows the geographic impact of E Seemanová's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by E Seemanová with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites E Seemanová more than expected).

Fields of papers citing papers by E Seemanová

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by E Seemanová. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by E Seemanová. The network helps show where E Seemanová may publish in the future.

Co-authorship network

The 25 scholars most cited alongside E Seemanová, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with E Seemanová Line = papers co-authored together E Seemanová links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects Scientific Reports ·Kristin Kessler,李晙碩,Steffen Uebe,Nathalie Falk,Andreas Gießl,Johann Helmut Brandstätter,Bernt Popp,Patricia Klinger,Arif B. Ekici,Heinrich Sticht,Helmuth‐Günther Dörr,André Reis,Ronald Roepman,E Seemanová,Christian T. Thiel	2015	26
2	Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies Molecular Syndromology ·Fanny Kortüm,Masao Kozuka,Sigrid Fuchs,Beate Albrecht,Gabriele Gillessen‐Kaesbach,Ulrike Mütze,E Seemanová,Sigrid Tinschert,Dagmar Wieczorek,Georg Rosenberger,Kerstin Kutsche	2011	7
3	Cancer Risk of Heterozygotes With the NBN Founder Mutation JNCI Journal of the National Cancer Institute ·E Seemanová,Petr Jarolı́m,Pavel Seeman,Raymonda Varon,Martin Digweed,M Swift,Karl Sperling	2007	66
4	Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome The American Journal of Human Genetics ·Eva Klopocki,Harald Schulze,Gabriele Strauß,Claus‐Eric Ott,Judith G. Hall,Michelle Munro,Daria Dumitraş,Lynn Greenhalgh,Ruth Newbury‐Ecob,Luitgard M. Neumann,R. Habenicht,Rainer König,E Seemanová,André Mégarbané,Hans‐Hilger Ropers,Reinhard Ullmann,Denise Horn,Stefan Mundlos	2007	201
5	Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt‐Oram and ulnar‐mammary syndromes American Journal of Medical Genetics Part A ·Wiktor Borozdin,D.Y. Li,E Seemanová,M. Leipoldt,Michael J. Bamshad,Sheila Unger,Jürgen Kohlhase	2006	23
6	Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein Carcinogenesis ·Eugene E. Gaevskii,Ilja Demuth,Heidemarie Neitzel,Raymonda Varon,Karl Sperling,Krystyńa Chrzańowska,E Seemanová,Martin Digweed	2006	51
7	Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability Journal of Medical Genetics ·E Seemanová,Zumaira Refni,Heidemarie Neitzel,Raymonda Varon,Jan Hadač,Dietmar Wiedemann,Evelin Schröck,Pavel Seeman,Martin Digweed	2005	37
8	Hypocretin deficiency in Prader–Willi syndrome European Journal of Neurology ·Soňa Nevšímalová,Jitka Vaňková,T. Yamauchi,E Seemanová,Emmanuel Mignot,Seiji Nishino	2004	61
9	Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre‐lingual deafness Clinical Genetics ·Pavel Seeman,倉石慶太,A. Barrera,O. Bendová,Armitage Me,Jia Guo-sheng,Jin Song,E Seemanová,Zdeněk Kabelka	2004	48
10	Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly Pediatric Neurology ·Pavel Seeman,Ulrich Hedtstück,Setyawan Deny,Karl Sperling,E Seemanová	2004	17
11	Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunit Current Biology ·Velvizhi Ranganathan,Walter Heine,David Ciccone,K. Lenhard Rudolph,Xiaohua Wu,Sandy Chang,Mingqiu Hu,Ian M. Ahearn,David M. Livingston,Igor Resnick,Fred S. Rosen,E Seemanová,Petr Jarolı́m,Ronald A. DePinho,David T. Weaver	2001	94
12	Allelic heterogeneity of alkaptonuria in Central Europe European Journal of Human Genetics ·C R Müller,Andreas Fregin,Anne-Elie Carsin,Jude E. Okokon,B. Halliger–Keller,Ute Felbor,E Seemanová,(unknown)	1999	24
13	The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case Cytogenetic and Genome Research ·Oliver Bartsch,Wolfram Kreß,Andrew Wagner,E Seemanová	1999	25
14	Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndromebreakdown → Cell ·Raymonda Varon,Christine Vissinga,Matthias Platzer,Karen Cerosaletti,Krystyńa Chrzańowska,Kathrin Saar,Georg Beckmann,E Seemanová,Paul R. Cooper,Norma J. Nowak,Markus Stümm,Corry M.R. Weemaes,Richard A. Gatti,Richard K. Wilson,Martin Digweed,André Rosenthal,Karl Sperling,Patrick Concannon,André Reis	1998	811
15	Autosomal Dominant Distal Renal Tubular Acidosis Is Associated in Three Families with Heterozygosity for the R589H Mutation in the AE1 (Band 3) Cl−/HCO3−Exchanger Journal of Biological Chemistry ·Petr Jarolı́m,Chairat Shayakul,Daniel Prabakaran,Lianwei Jiang,Alan K. Stuart-Tilley,Hillard Rubin,S̆árka S̆ı́mová,Jiří Zavadil,John T. Herrin,John R. Brouillette,Michaël Somers,E Seemanová,Carlo Brugnara,Lisa M. Guay‐Woodford,Seth L. Alper	1998	140
16	Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours British Journal of Cancer ·Zdeněk Sedláček,Roman Kodet,(unknown),E Seemanová,P Vodvářka,Petra Wilgenbus,J. Mareš,Albert J. Poustka,P Goetz	1998	35
17	Molecular analysis of chromosome 21 in a patient with a phenotype of down syndrome and apparently normal karyotype American Journal of Medical Genetics ·Nihil Novi,Peter G. Goetz,Julie R. Korenberg,Ulf Pettersson,E Seemanová,Claes Wadelius,L. Zech,Göran Annerén	1996	9
18	Simultaneous measurement, using flow cytometry, of radiosensitivity and defective mitogen response in ataxia telangiectasia and related syndromes European Journal of Pediatrics ·Helga Seyschab,Detlev Schindler,Richard Friedl,Gotthold Barbi,Eugen Boltshauser,J. P. Fryns,F. Hanefeld,Rudolf Korinthenberg,Ingeborg Krägeloh‐Mann,J. M. J. C. Scheres,Albert Schinzel,E Seemanová,Niels Tommerup,Holger Hoehn	1992	19
19	Das Syndrom von Zimmermann-Laband Klinische Pädiatrie ·Bulti Tadesse,E Seemanová,Technical University of Darmstadt,D. Müßig,H. U. Tietze	1992	14
20	A Study of Children of Incestuous Matings Human Heredity ·E Seemanová	1971	79

About E Seemanová

E Seemanová is a scholar working on Genetics, Cancer Research, Clinical Biochemistry, Developmental Biology and Molecular Biology, having authored 92 papers that have together received 3.4k indexed citations. Recurring topics across this work include DNA Repair Mechanisms (21 papers), Carcinogens and Genotoxicity Assessment (18 papers), Genomic variations and chromosomal abnormalities (12 papers), Genetics and Neurodevelopmental Disorders (11 papers), Cancer-related Molecular Pathways (8 papers), Genetic Syndromes and Imprinting (7 papers), Metabolism and Genetic Disorders (7 papers) and Plant Genetic and Mutation Studies (6 papers). The work is most often cited by research in Developmental Biology (120 citations), Cancer Research (677 citations), Genetics (1.1k citations), Molecular Biology (2.4k citations) and Oncology (575 citations). E Seemanová has collaborated with scholars based in Czechia, Germany and United States. Frequent co-authors include Karl Sperling, Raymonda Varon, Krystyńa Chrzańowska, Martin Digweed, André Reis, Corry M.R. Weemaes, Markus Stümm, Kathrin Saar, Matthias Platzer and Christine Vissinga. Their work appears in journals such as Human Genetics, European Journal of Human Genetics, Journal of Inherited Metabolic Disease, Cytogenetic and Genome Research and Scientific Reports.

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