Rosemarie Rupps

1000 total citations
23 papers, 337 citations indexed

About

Rosemarie Rupps is a scholar working on Molecular Biology, Genetics and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, Rosemarie Rupps has authored 23 papers receiving a total of 337 indexed citations (citations by other indexed papers that have themselves been cited), including 14 papers in Molecular Biology, 11 papers in Genetics and 6 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in Rosemarie Rupps's work include Prenatal Screening and Diagnostics (4 papers), Genomic variations and chromosomal abnormalities (4 papers) and Genetic Syndromes and Imprinting (3 papers). Rosemarie Rupps is often cited by papers focused on Prenatal Screening and Diagnostics (4 papers), Genomic variations and chromosomal abnormalities (4 papers) and Genetic Syndromes and Imprinting (3 papers). Rosemarie Rupps collaborates with scholars based in Canada, United States and Germany. Rosemarie Rupps's co-authors include Cornelius F. Boerkoel, Jan M. Friedman, Laura Arbour, Wendy P. Robinson, Christopher J. Lyons, Brian D. Kuchinka, Cristina Dias, Edwina J. Popek, Jo Cavanagh and David Wensley and has published in prestigious journals such as SHILAP Revista de lepidopterología, Infection and Immunity and Human Mutation.

In The Last Decade

Rosemarie Rupps

23 papers receiving 316 citations

Peers

Rosemarie Rupps
S. M. Khorshed Alam United States
Nadia Gopichandran United Kingdom
SALLIE O. ADAMS United States
Yu Hong China
Robert V. Dutton United States
Rosemarie Rupps
Citations per year, relative to Rosemarie Rupps Rosemarie Rupps (= 1×) peers Maryse Bonnière

Countries citing papers authored by Rosemarie Rupps

Since Specialization
Citations

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

Fields of papers citing papers by Rosemarie Rupps

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Rosemarie Rupps

This figure shows the co-authorship network connecting the top 25 collaborators of Rosemarie Rupps. A scholar is included among the top collaborators of Rosemarie Rupps 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 Rosemarie Rupps. Rosemarie Rupps is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

20 of 20 papers shown
1.
O’Neill, Kieran, Lindsay Brown, Kamilla Schlade‐Bartusiak, et al.. (2021). An approach to rapid characterization of DMD copy number variants for prenatal risk assessment. American Journal of Medical Genetics Part A. 185(8). 2541–2545. 7 indexed citations
2.
Terry, Jefferson, Sylvie Langlois, Rosemarie Rupps, & Harinder Gill. (2019). Prenatal Autoimmune Disease, Multisystem, Infantile Onset-like Phenotype and Proximal Renal Tubular Dysplasia Associated With STAT3 Mutation. Pediatric and Developmental Pathology. 23(4). 306–311. 3 indexed citations
3.
Myers, Angela, Christèle du Souich, Connie Yang, et al.. (2017). FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?. American Journal of Medical Genetics Part A. 173(12). 3172–3181. 20 indexed citations
4.
Valkanas, Elise, Katherine E. Schaffer, Christopher Dunham, et al.. (2016). Phenotypic evolution of UNC80 loss of function. American Journal of Medical Genetics Part A. 170(12). 3106–3114. 14 indexed citations
5.
Szafrański, Przemysław, Zeynep Coban‐Akdemir, Rosemarie Rupps, et al.. (2016). Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs. American Journal of Medical Genetics Part A. 170(9). 2440–2444. 45 indexed citations
6.
Robitaille, Johane M., et al.. (2015). Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome. Ophthalmic Genetics. 36(3). 276–280. 9 indexed citations
7.
Dias, Cristina, Murat Sincan, Rosemarie Rupps, et al.. (2013). Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. European Journal of Human Genetics. 21(11). 1232–1239. 11 indexed citations
8.
Dias, Cristina, Murat Sincan, Praveen F. Cherukuri, et al.. (2012). An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. Human Mutation. 33(4). 614–626. 22 indexed citations
9.
Tsang, Erica S., Rosemarie Rupps, Barbara McGillivray, et al.. (2012). Life‐history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome. American Journal of Medical Genetics Part A. 158A(10). 2606–2609. 4 indexed citations
10.
Peñaherrera, Maria S., Rosemarie Rupps, Laura Arbour, et al.. (2012). Beckwith–Wiedemann syndrome in sibs discordant for IC2 methylation. American Journal of Medical Genetics Part A. 158A(7). 1662–1669. 8 indexed citations
11.
Rupps, Rosemarie, et al.. (2012). Novel Mutations in FA2H-Associated Neurodegeneration. Journal of Child Neurology. 28(11). 1500–1504. 17 indexed citations
12.
Mammen, Cherry, Rosemarie Rupps, Peter Trnka, & Cornelius F. Boerkoel. (2011). Hypothesis: SLC12A3 Polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance. European Journal of Medical Genetics. 55(2). 96–98. 2 indexed citations
13.
Rupps, Rosemarie, et al.. (2010). Fetal alcohol syndrome: a phenocopy of spondylocarpotarsal synostosis syndrome?. Clinical Dysmorphology. 19(4). 175–180. 1 indexed citations
14.
Arbour, Laura, Saman Rezazadeh, Jodene Eldstrom, et al.. (2008). A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact. Genetics in Medicine. 10(7). 545–550. 26 indexed citations
15.
Arbour, Laura, et al.. (2007). Congenital heart defects in Canadian Inuit: is more folic acid making a difference?. PubMed. 49(2 Suppl). 163–6. 4 indexed citations
16.
Arbour, Laura, et al.. (2005). Recurrent trisomy 21: four cases in three generations. Clinical Genetics. 68(5). 430–435. 19 indexed citations
17.
Arbour, Laura, Rosemarie Rupps, Paul J. Ross, et al.. (2005). Characteristics of primary biliary cirrhosis in British Columbia's First Nations population. SHILAP Revista de lepidopterología. 19(5). 305–310. 32 indexed citations
18.
Rupps, Rosemarie, David S. Lirenman, Margot I. Van Allen, et al.. (2001). Renal-coloboma syndrome: Prenatal detection and clinical spectrum in a large family. American Journal of Medical Genetics. 99(2). 137–141. 29 indexed citations
19.
Rupps, Rosemarie, et al.. (2000). Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line. American Journal of Medical Genetics. 94(1). 35–41. 30 indexed citations
20.
Rupps, Rosemarie, Alison M. Elliott, E. Michel Azouz, et al.. (1996). Skeletal and cardiac malformations with thrombocytopenia: A new syndrome?. American Journal of Medical Genetics. 64(3). 497–500. 1 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.

Explore authors with similar magnitude of impact

Rankless by CCL
2026