Alessandra Baumer

5.5k citations

88 papers · 2.9k indexed · h-index 27

Impact in

Genetics top 1%
- Genomic variations and chromosomal abnormalities
- Genetic Syndromes and Imprinting
- Genetics and Neurodevelopmental Disorders
Clinical Biochemistry top 1%
- Metabolism and Genetic Disorders

Papers in

Genetics 53
- Genomic variations and chromosomal abnormalities 28
- Genetic Syndromes and Imprinting 19
- Genetics and Neurodevelopmental Disorders 9
- Genomics and Rare Diseases 7
Pediatrics, Perinatology and Child Health 29
- Prenatal Screening and Diagnostics 29

Co-authors: Albert Schinzel Phillip Nagley Chunfang Zhang A. W. Linnane Mariluce Riegel Anthony W. Linnane Ronald J. Maxwell Anita Rauch
Journals: European Journal of Human Genetics (11 papers)Prenatal Diagnosis (5 papers)Human Mutation (5 papers)Human Genetics (4 papers)European Journal of Medical Genetics (3 papers)
Partner nations: Switzerland Germany Australia

In The Last Decade

Alessandra Baumer

85 papers receiving 2.7k citations

Peers

Countries citing papers authored by Alessandra Baumer

Since Specialization

Citations

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

Fields of papers citing papers by Alessandra Baumer

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network

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

All Works

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20 of 20 papers shown

#	Work
1	The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort European Journal of Human Genetics ·Paolo Zanoni, Katharina Steindl, Heinrich Sticht, Beatrice Oneda, Pascal Joset, Ivan Ivanovski, Anselm H. C. Horn, Elena M. Cabello, Julia Laube, Markus Zweier, Alessandra Baumer, Anita Rauch, Nadia Khan	2023	6
2	Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature American Journal of Medical Genetics Part A ·Yitzchak Oschry, Katharina Steindl, Pascal Joset, Belkis Solange Alcantara Obrego, Alessandra Baumer, Christina Gerth‐Kahlert, B. Tutschek, Anita Rauch	2021	11
3	CUGC for Simpson-Golabi-Behmel syndrome (SGBS) European Journal of Human Genetics ·Marie‐Laure Vuillaume, Marie‐Pierre Moizard, Alessandra Baumer, Smith Th, Frédéric Brioude, Anita Rauch, Annick Toutain	2019	10
4	N⁸‐acetylspermidine as a potential plasma biomarker for Snyder‐Robinson syndrome identified by clinical metabolomics Journal of Inherited Metabolic Disease ·Lucia Abela, ブルース・E アロンソン, Katharina Steindl, Bernhard Schmitt, Massimo Mastrangelo, Pascal Joset, Sorina Mihaela Papuc, Heinrich Sticht, Alessandra Baumer, Lisa M. Crowther, Déborah Mathis, Anita Rauch, Barbara Plecko	2015	26
5	A recurrent germline mutation in the PIGA gene causes Simpson‐Golabi‐Behmel syndrome type 2 American Journal of Medical Genetics Part A ·Christine Fauth, Katharina Steindl, Annick Toutain, Sandra A. Farrell, Martina Witsch‐Baumgartner, Daniela Karall, Pascal Joset, Олена Пасічник, Alessandra Baumer, Oliver Maier, Johannes Zschocke, Rosanna Weksberg, Christian R. Marshall, Anita Rauch	2015	30
6	Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome Molecular Syndromology ·Markus Gschwind, G. Foletti, Alessandra Baumer, Armand Bottani, Jan Nový	2015	4
7	Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6) European Heart Journal ·Christian Templin, Jelena R. Ghadri, Jean‐Sébastien Rougier, Alessandra Baumer, V. A. Kaplan, Maxime Albesa, Heinrich Sticht, Anita Rauch, Chris Puleo, Dan Hu, Héctor Barajas-Martínez, Charles Antzelevitch, Thomas F. Lüscher, Hugues Abriel, Fırat Duru	2011	140
8	Surgical excision of a fishhook from the gastrointestinal tract of a freshwater stingray (Potamotrygon falkneri). H. Neuhaus, Binay B. Adhikari, Alessandra Baumer, Nikita M. Shukla, Wilh Schuster, 憲一水谷, Dieter Steinhagen	2010	1
9	Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15 Genome Research ·Andrew J. Sharp, Eugenia Migliavacca, Hafizul Fikri Aritonang, Elisavet Stathaki, M. Reza Sailani, Alessandra Baumer, Albert Schinzel, Deborah Mackay, David Robinson, Gilda Cobellis, Luigi Cobellis, Han G. Brunner, Bernhard Steiner, Stylianos E. Antonarakis	2010	28
10	A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma Journal of the European Academy of Dermatology and Venereology ·М А Тихомиров, X. Schneider‐Yin, Rivka Mamet, Liran Horev, Stefan Neuenschwander, Alessandra Baumer, Frédéric Austerlitz, Hervé Puy, N. Schoenfeld	2010	11
11	No Evidence for Mutations of CTCFL/BORIS in Silver-Russell Syndrome Patients with IGF2/H19 Imprinting Control Region 1 Hypomethylation PLoS ONE ·Jeremiah Bernier‐Latmani, Alessandra Baumer, Phillip Shaw	2009	4
12	Clinical delineation of Giuffrè–Tsukahara syndrome: Another case with microcephaly and radio‐ulnar synostosis with apparent X‐linked semi‐dominant inheritance American Journal of Medical Genetics Part A ·Harald Gaspar, B. Laguda, Alessandra Baumer, Albert Schinzel	2008	3
13	Monochorionic‐diamniotic twins discordant in gender from a naturally conceived pregnancy through postzygotic sex chromosome loss in a 47,XXY zygote Prenatal Diagnosis ·Nicolas H. Zech, Josef Wisser, Giancarlo Natalucci, Mariluce Riegel, Alessandra Baumer, Albert Schinzel	2008	43
14	A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism Nature Genetics ·David A. Koolen, Lisenka E.L.M. Vissers, Rolph Pfundt, Nicole de Leeuw, Samantha J.L. Knight, Regina Regan, R. Frank Kooy, Edwin Reyniers, Corrado Romano, Marco Fichera, Albert Schinzel, Alessandra Baumer, Britt-Marie Anderlid, Jacqueline Schoumans, Nine V.A.M. Knoers, Ad Geurts van Kessel, Erik A. Sistermans, Joris A. Veltman, Han G. Brunner, Bert B.A. de Vries	2006	305
15	Postzygotic isochromosome formation as a cause for false‐negative results from chorionic villus chromosome examinations Prenatal Diagnosis ·Mariluce Riegel, Josef Wisser, Alessandra Baumer, Albert Schinzel	2006	22
16	A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms Human Mutation ·Alessandra Baumer, 大崎保則, Martin Hergersberg, Albert Schinzel	2001	48
17	Parental origin and mechanisms of formation of triploidy: a study of 25 cases European Journal of Human Genetics ·Alessandra Baumer, Damina Balmer, Franz Binkert, Albert Schinzel	2000	35
18	Nonrandom X inactivation and selection of fragile X full mutation in fetal fibroblasts American Journal of Medical Genetics ·倉増幸雄, Alessandra Baumer	1999	12
19	Seven cases of Wiedemann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11 American Journal of Medical Genetics ·Fabrizio Dutly, Alessandra Baumer, Nurain Farhanah, P. Morales Blanco, 宏明下川, Gundula Hebisch, Albert Schinzel	1998	41
20	Multiple mitochondrial DNA deletions in an elderly human individual FEBS Letters ·Chunfang Zhang, Alessandra Baumer, Ronald J. Maxwell, Anthony W. Linnane, Phillip Nagley	1992	180

About Alessandra Baumer

Alessandra Baumer is a scholar working on Genetics, Pediatrics, Perinatology and Child Health, Clinical Biochemistry, Molecular Biology and Developmental Neuroscience, having authored 88 papers that have together received 2.9k indexed citations. Recurring topics across this work include Prenatal Screening and Diagnostics (29 papers), Genomic variations and chromosomal abnormalities (28 papers), Genetic Syndromes and Imprinting (19 papers), Epigenetics and DNA Methylation (14 papers), Metabolism and Genetic Disorders (10 papers), Genetics and Neurodevelopmental Disorders (9 papers), Congenital heart defects research (8 papers) and Genomics and Rare Diseases (7 papers). The work is most often cited by research in Genetics (1.3k citations), Clinical Biochemistry (291 citations), Aging (61 citations), Pediatrics, Perinatology and Child Health (507 citations) and Molecular Biology (1.7k citations). Alessandra Baumer has collaborated with scholars based in Switzerland, Germany and Australia. Frequent co-authors include Albert Schinzel, Phillip Nagley, Chunfang Zhang, A. W. Linnane, Mariluce Riegel, Anthony W. Linnane, Ronald J. Maxwell, Anita Rauch, Damina Balmer and Fabrizio Dutly. Their work appears in journals such as European Journal of Human Genetics, Prenatal Diagnosis, Human Mutation, Human Genetics and European Journal of Medical Genetics.

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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