Stefanie Birnbaum

1.5k total citations
12 papers, 341 citations indexed

About

Stefanie Birnbaum is a scholar working on Genetics, Molecular Biology and Genetics. According to data from OpenAlex, Stefanie Birnbaum has authored 12 papers receiving a total of 341 indexed citations (citations by other indexed papers that have themselves been cited), including 12 papers in Genetics, 5 papers in Molecular Biology and 4 papers in Genetics. Recurrent topics in Stefanie Birnbaum's work include Craniofacial Disorders and Treatments (8 papers), Cleft Lip and Palate Research (8 papers) and Congenital Ear and Nasal Anomalies (4 papers). Stefanie Birnbaum is often cited by papers focused on Craniofacial Disorders and Treatments (8 papers), Cleft Lip and Palate Research (8 papers) and Congenital Ear and Nasal Anomalies (4 papers). Stefanie Birnbaum collaborates with scholars based in Germany, Estonia and United States. Stefanie Birnbaum's co-authors include Elisabeth Mangold, Soojin Ryu, Antje Brockschmidt, Peter Lichter, Ruthild G. Weber, Alexander Hoischen, Christian Kubisch, Wolfgang Driever, Bernhard Radlwimmer and Hartmut Engels and has published in prestigious journals such as Kidney International, Human Molecular Genetics and European Journal of Human Genetics.

In The Last Decade

Stefanie Birnbaum

12 papers receiving 330 citations

Peers

Stefanie Birnbaum

GENET

SURGE

RHEUM

Aida Telegrafi United States

Kurt Reynolds United States

Chad Haldeman‐Englert United States

Christiane Spaich Germany

Heidi A. Heilstedt United States

Claudia Ciaccio Italy

G Morin France

Eva Wohlleber Germany

Sanne M. C. Savelberg Netherlands

J A Hurst United Kingdom

Aida Telegrafi United States

Stefanie Birnbaum

207 ×0.7

GENET

213 ×1.1

22 ×0.5

GENET

26 ×0.7

SURGE

16 ×0.5

RHEUM

Citations per year, relative to Stefanie Birnbaum Stefanie Birnbaum (= 1×) peers Aida Telegrafi

Countries citing papers authored by Stefanie Birnbaum

Since Specialization

Citations

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

Fields of papers citing papers by Stefanie Birnbaum

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Stefanie Birnbaum

This figure shows the co-authorship network connecting the top 25 collaborators of Stefanie Birnbaum. A scholar is included among the top collaborators of Stefanie Birnbaum based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Stefanie Birnbaum. Stefanie Birnbaum is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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12 of 12 papers shown

Jacquemont, Sébastien, Stefanie Birnbaum, Silke Redler, Peter Steinbach, & Valérie Biancalana. (2011). Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency. European Journal of Human Genetics. 19(9). 1017–1017. 11 indexed citations

Nikopensius, Tiit, Stefanie Birnbaum, Kerstin U. Ludwig, et al.. (2010). Susceptibility locus for non‐syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients. European Journal Of Oral Sciences. 118(3). 317–319. 18 indexed citations

Nikopensius, Tiit, Laima Ambrozaitytė, Kerstin U. Ludwig, et al.. (2009). Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients. American Journal of Medical Genetics Part A. 149A(11). 2551–2553. 30 indexed citations

Birnbaum, Stefanie, Heiko Reutter, Meinhard Mende, et al.. (2009). Further evidence for the involvement ofMYH9in the etiology of non‐syndromic cleft lip with or without cleft palate. European Journal Of Oral Sciences. 117(2). 200–203. 19 indexed citations

Reutter, Heiko, Stefanie Birnbaum, Meinhard Mende, et al.. (2009). Transforming growth factor-beta receptor type 1 (TGFBR1) is not associated with non-syndromic cleft lip with or without cleft palate in patients of Central European descent. International Journal of Pediatric Otorhinolaryngology. 73(10). 1334–1338. 3 indexed citations

Tekin, Mustafa, Hatice Akay, Suat Fítöz, et al.. (2008). Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. Clinical Genetics. 73(6). 554–565. 41 indexed citations

Reutter, Heiko, Stefanie Birnbaum, Meinhard Mende, et al.. (2008). TGFB3 displays parent-of-origin effects among central Europeans with nonsyndromic cleft lip and palate. Journal of Human Genetics. 53(7). 656–661. 28 indexed citations

Reutter, Heiko, Stefanie Birnbaum, Meinhard Mende, et al.. (2008). Family-Based Association Study of the MTHFR Polymorphism C677T in Patients with Nonsyndromic Cleft Lip and Palate from Central Europe. The Cleft Palate-Craniofacial Journal. 45(3). 267–271. 17 indexed citations

Birnbaum, Stefanie, Heiko Reutter, Carola Lauster, et al.. (2008). Mutation screening in theIRF6‐gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal‐dominant inheritance. American Journal of Medical Genetics Part A. 146A(6). 787–790. 18 indexed citations

10.

Brockschmidt, Antje, Unda Todt, Soojin Ryu, et al.. (2007). Severe mental retardation with breathing abnormalities (Pitt–Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. Human Molecular Genetics. 16(12). 1488–1494. 121 indexed citations

11.

Birnbaum, Stefanie, Heiko Reutter, Meinhard Mende, et al.. (2006). A family‐based association study in Central Europeans: No evidence for the cystathionine beta‐synthase c.844ins68 gene variant as a risk factor for non‐syndromic cleft lip and palate. American Journal of Medical Genetics Part A. 143A(2). 205–207. 6 indexed citations

12.

Hildebrandt, Friedhelm, Christopher Rensing, Regina C. Betz, et al.. (2001). Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis. Kidney International. 59(2). 434–445. 29 indexed citations

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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