Eva Rossier

2.0k citations

21 papers · 644 indexed · h-index 13

Impact in

Genetics top 5%
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genetic Syndromes and Imprinting
Developmental Biology top 10%

Papers in ⓘ

Genetics 15
- Genomic variations and chromosomal abnormalities 9
- Genetics and Neurodevelopmental Disorders 3
- Genetic and rare skin diseases. 3
Molecular Biology 13
- Chromatin Remodeling and Cancer 3
- Genomics and Chromatin Dynamics 2

Co-authors: Gotthold Barbi (5 shared papers)Arif B. Ekici (3 shared papers)Anita Rauch (3 shared papers)Hildegard Kehrer‐Sawatzki (4 shared papers)Hartmut Engels (2 shared papers)André Reis (2 shared papers)Christiane Zweier (2 shared papers)Eva Wohlleber (2 shared papers)
Journals: European Journal of Human Genetics (4 papers)Journal of Inherited Metabolic Disease (2 papers)Human Mutation (1 paper)The American Journal of Human Genetics (1 paper)Prenatal Diagnosis (1 paper)
Partner nations: Germany United States Switzerland

In The Last Decade

Eva Rossier

21 papers receiving 632 citations

Peers

Countries citing papers authored by Eva Rossier

Since Specialization

Citations

This map shows the geographic impact of Eva Rossier'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 Eva Rossier with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Eva Rossier more than expected).

Fields of papers citing papers by Eva Rossier

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Eva Rossier. 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 Eva Rossier. The network helps show where Eva Rossier may publish in the future.

Co-authors

The 25 scholars most cited alongside Eva Rossier, 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 Eva Rossier Line = papers co-authored together Eva Rossier links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 21 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability The American Journal of Human Genetics ·Juliane Hoyer, Arif B. Ekici, Sabine Endele, Bernt Popp, Christiane Zweier, Antje Wiesener, Eva Wohlleber, Andreas Dufke, Eva Rossier, Corinna Petsch, Markus Zweier, Ina Göhring, Alexander M. Zink, Gudrun Rappold, Evelin Schröck, Dagmar Wieczorek, Olaf Rieß, Hartmut Engels, Anita Rauch, André Reis	2012	173
2	Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression Human Mutation ·Markus Zweier, Anne Gregor, Christiane Zweier, Hartmut Engels, Heinrich Sticht, Eva Wohlleber, Emilia K. Bijlsma, Susan Holder, Martin Zenker, Eva Rossier, Ute Grasshoff, Diana Johnson, Lisa Robertson, Helen V. Firth, Cornelia Kraus, Arif B. Ekici, André Reis, Anita Rauch	2010	114
3	Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2‐22.3 with a highly variable phenotype in female carriers American Journal of Medical Genetics Part A ·Sylwia Chocholska, Eva Rossier, Gotthold Barbi, Hildegard Kehrer‐Sawatzki	2006	51
4	Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency Journal of Inherited Metabolic Disease ·K. Michael Gibson, C. Jakobs, H. Ogier, Lars Hagenfeldt, Karin Edebol Eeg‐Olofsson, Orvar Eeg‐Olofsson, F. Aksu, Hannelore Weber, Eva Rossier, Brigitte Vollmer, W. Lehnert	1995	45
5	De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation European Journal of Human Genetics ·Ute Grasshoff, Michael Bonin, Ina Goehring, Arif B. Ekici, Andreas Dufke, Kirsten Cremer, Nicholas Wagner, Eva Rossier, Anna Jauch, Michael Walter, Claudia Bauer, Peter Bauer, Karl Horber, Stefanie Beck‐Woedl, Dagmar Wieczorek	2011	33
6	New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome European Journal of Human Genetics ·Jasmin Beygo, Alma Küchler, Gabriele Gillessen‐Kaesbach, Beate Albrecht, Jonas Eckle, Thomas Eggermann, Alexandra Gellhaus, Deniz Kanber, Ulrike Kordaß, Hermann‐Josef Lüdecke, Sabine Purmann, Eva Rossier, Johannes van de Nes, Ilse M. van der Werf, Maren Wenzel, Dagmar Wieczorek, Bernhard Horsthemke, Karin Buiting	2017	31
7	Chromosome 11p15 duplication in Silver‐Russell syndrome due to a maternally inherited translocation t(11;15) American Journal of Medical Genetics Part A ·Thomas Eggermann, Sabrina Spengler, Nadine Bachmann, Michael Baudis, Ulrike A. Mau‐Holzmann, Sylke Singer, Eva Rossier	2010	30
8	Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap European Journal of Human Genetics ·May-Britt Harmsen, Silvia Azzarello‐Burri, M. Mar García González, Gabriele Gillessen‐Kaesbach, Peter Meinecke, Dietmar Müller, Anita Rauch, Eva Rossier, E Seemanová, Christiane Spaich, Bernhard Steiner, Dagmar Wieczorek, Martin Zenker, Kerstin Kutsche	2009	28
9	Enzymatic and Immunologic Identification of Succinic Semialdehyde Dehydrogenase in Rat and Human Neural and Nonneural Tissues Journal of Neurochemistry ·Ken L. Chambliss, Yuan Zhang, Eva Rossier, Brigitte Vollmer, K. Michael Gibson	1995	24
10	Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome BMC Medical Genetics ·Wenke Seifert, Peter Meinecke, Gabriele Krüger, Eva Rossier, Wolfram Heinritz, Achim Wüsthof, Denise Horn	2014	23
11	Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development European Journal of Human Genetics ·Litu Zhang, Zeynep Tümer, Kjeld Møllgård, Gotthold Barbi, Eva Rossier, Eske Bendsen, Rikke S. Møller, Reinhard Ullmann, Jian He, Nickolas Papadopoulos, Niels Tommerup, Lars Allan Larsen	2009	19
12	New case of mosaic tetrasomy 9p with additional neurometabolic findings American Journal of Medical Genetics ·Thomas Eggermann, Eva Rossier, U Theurer-Mainka, Claudia Backsch, U. Klein‐Vogler, H. Enders, Peter Kaiser	1998	17
13	Pre‐ and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays Journal of Inherited Metabolic Disease ·K. Michael Gibson, Clarisse Baumann, H Ogier, Eva Rossier, Brigitte Vollmer, C. Jakobs	1994	16
14	Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies American Journal of Medical Genetics Part A ·Birgitta Gläser, Eva Rossier, Gotthold Barbi, Loredana Delle Chiaie, C. E. Blank, Walther Vogel, Hildegard Kehrer‐Sawatzki	2002	12
15	Interstitial deletion del(10)(q25.2q25.3 ∼ 26.11)—case report and review of the literature Prenatal Diagnosis ·Hildegard Kehrer‐Sawatzki, Eva Daumiller, Jutta Müller‐Navia, Heidemarie Kendziorra, Eva Rossier, Gabriele du Bois, Gotthold Barbi	2005	12
16	SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss Clinical Dysmorphology ·Alina Henn, Harald Weng, Simon Novak, G. Rettenberger, Andreas Gerhardinger, Eva Rossier, Birgit Zirn	2018	7
17	Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 ? q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric developmental delay American Journal of Medical Genetics Part A ·Gotthold Barbi, C. Spaich, S. Adolph, Eva Rossier, Hildegard Kehrer‐Sawatzki	2005	3
18	Menkes disease with discordant phenotype in female monozygotic twins American Journal of Medical Genetics Part A ·Anna Lena Burgemeister, Birgit Zirn, Frank Oeffner, Stephen G. Kaler, Gunther Lemm, Eva Rossier, Hans‐Martin Büttel	2015	3
19	A 10-year evaluation study of the productivity of free-running light mares. Growth of foals from birth to 6 months. Catherine Trillaud-Geyl, J. Brohier, L. de Baynast, N. Baudoin, Eva Rossier, O. Lapierre	1990	1
20	Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome BMC Medical Genetics ·Wenke Seifert, Peter Meinecke, Gabriele Krüger, Eva Rossier, Wolfram Heinritz, Achim Wüsthof, Denise Horn	2014	1

About Eva Rossier

Eva Rossier is a scholar working on Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health, Plant Science and Surgery, having authored 21 papers that have together received 644 indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (9 papers), Prenatal Screening and Diagnostics (5 papers), Chromosomal and Genetic Variations (5 papers), Chromatin Remodeling and Cancer (3 papers), Genetics and Neurodevelopmental Disorders (3 papers), Genetic and rare skin diseases. (3 papers), Metabolism and Genetic Disorders (2 papers) and Genomics and Chromatin Dynamics (2 papers). The work is most often cited by research in Genetics (392 citations), Developmental Biology (23 citations), Clinical Biochemistry (43 citations), Molecular Biology (406 citations) and Pathology and Forensic Medicine (85 citations). Eva Rossier has collaborated with scholars based in Germany, United States and Switzerland. Frequent co-authors include Gotthold Barbi, Arif B. Ekici, Anita Rauch, Hildegard Kehrer‐Sawatzki, Hartmut Engels, André Reis, Christiane Zweier, Eva Wohlleber, Markus Zweier and Dagmar Wieczorek. Their work appears in journals such as European Journal of Human Genetics, Journal of Inherited Metabolic Disease, Human Mutation, The American Journal of Human Genetics and Prenatal Diagnosis.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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