Sandra Whalen

3.2k total citations
28 papers, 417 citations indexed

About

Sandra Whalen is a scholar working on Molecular Biology, Genetics and Surgery. According to data from OpenAlex, Sandra Whalen has authored 28 papers receiving a total of 417 indexed citations (citations by other indexed papers that have themselves been cited), including 15 papers in Molecular Biology, 13 papers in Genetics and 5 papers in Surgery. Recurrent topics in Sandra Whalen's work include Genomics and Rare Diseases (5 papers), Genetics and Neurodevelopmental Disorders (5 papers) and Genomic variations and chromosomal abnormalities (4 papers). Sandra Whalen is often cited by papers focused on Genomics and Rare Diseases (5 papers), Genetics and Neurodevelopmental Disorders (5 papers) and Genomic variations and chromosomal abnormalities (4 papers). Sandra Whalen collaborates with scholars based in France, United States and Switzerland. Sandra Whalen's co-authors include Boris Keren, Cyril Mignot, Lydie Bürglen, Sandra Chantot‐Bastaraud, Thierry Billette de Villemeur, Delphine Héron, Alexandre Vasiljevic, Sabrina Sacconi, Vincent Mouly and Gary Lynch and has published in prestigious journals such as Neuroscience, The American Journal of Human Genetics and Human Molecular Genetics.

In The Last Decade

Sandra Whalen

25 papers receiving 411 citations

Peers

Sandra Whalen
Sandra Whalen
Citations per year, relative to Sandra Whalen Sandra Whalen (= 1×) peers Krystyna Szymańska

Countries citing papers authored by Sandra Whalen

Since Specialization
Citations

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

Fields of papers citing papers by Sandra Whalen

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Sandra Whalen

This figure shows the co-authorship network connecting the top 25 collaborators of Sandra Whalen. A scholar is included among the top collaborators of Sandra Whalen 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 Sandra Whalen. Sandra Whalen 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.
Srivastava, Siddharth, Lindsay C. Swanson, Boris Keren, et al.. (2024). Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatric Neurology. 160. 45–53.
2.
Michaud, Vincent, Angèle Tingaud‐Sequeira, Eulalie Lasseaux, et al.. (2023). Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism. Pigment Cell & Melanoma Research. 37(5). 534–545. 4 indexed citations
3.
Patat, Olivier, Sandra Whalen, Lionel Arnaud, et al.. (2021). Patients with KCNH1 -related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome. Journal of Medical Genetics. 59(5). 505–510. 8 indexed citations
4.
Whalen, Sandra, Sophie Kaltenbach, Andrea Superti‐Furga, et al.. (2021). Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly. American Journal of Medical Genetics Part A. 185(12). 3831–3837.
5.
Braden, Ruth, Siddharth Srivastava, Gaëtan Lesca, et al.. (2021). Clinical delineation of SETBP1 haploinsufficiency disorder. European Journal of Human Genetics. 29(8). 1198–1205. 17 indexed citations
6.
Mirlesse, V., Sandra Whalen, Benoît Funalot, et al.. (2021). Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?. Genes. 12(5). 670–670. 4 indexed citations
7.
Doummar, Diane, Sandra Whalen, Boris Keren, et al.. (2020). Congenital immobility and stiffness related to biallelic ATAD1 variants. Neurology Genetics. 6(6). e520–e520. 4 indexed citations
8.
Van‐Gils, Julien, Sophie Naudion, Jérôme Toutain, et al.. (2019). Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations. Clinical Genetics. 95(3). 420–426. 8 indexed citations
9.
Larcher, Lise, Joy Norris, Julien Buratti, et al.. (2019). The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome. European Journal of Medical Genetics. 63(4). 103777–103777. 21 indexed citations
11.
Hiatt, Susan M., Sandra Whalen, Boris Keren, et al.. (2019). A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway. Frontiers in Physiology. 10. 388–388. 25 indexed citations
12.
Halbertsma, Feico J. J., Francjan J. van Spronsen, Roelineke J. Lunsing, et al.. (2018). Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?. European Journal of Paediatric Neurology. 22(4). 662–666. 11 indexed citations
13.
Doummar, Diane, Fathi Moussa, Claudia Ravelli, et al.. (2018). Monoamine neurotransmitters and movement disorders in children and adults. Revue Neurologique. 174(9). 581–588. 17 indexed citations
14.
Maluenda, Jérôme, Constance Manso, Alexandre Vivanti, et al.. (2016). Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis. The American Journal of Human Genetics. 99(4). 928–933. 38 indexed citations
15.
Domingo‐Jiménez, Rosario, Lydie Bürglen, María Juliana Ballesta‐Martínez, et al.. (2014). Síndrome Schinzel-Giedion: nueva mutación en SETBP1. Anales de Pediatría. 82(1). e12–e16. 13 indexed citations
16.
Whalen, Sandra, Aurélia Jacquette, & Delphine Héron. (2014). Le conseil génétique dans les maladies neuromusculaires de l'enfant. 17(1). 23–33.
17.
Mariot, Virginie, Bettina Bessières, Alexandre Vasiljevic, et al.. (2013). DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles. Human Molecular Genetics. 23(1). 171–181. 59 indexed citations
18.
Mignot, Cyril, Delphine Héron, Joseph Bursztyn, et al.. (2012). Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum. Brain and Development. 35(2). 172–176. 30 indexed citations
19.
Giurgea, Irina, Chantal Missirian, Pierre Cacciagli, et al.. (2008). TCF4Deletions in Pitt-Hopkins Syndrome. Human Mutation. 29(11). E242–E251. 45 indexed citations
20.
Whalen, Sandra, et al.. (2003). Ampakines reduce methamphetamine-driven rotation and activate neocortex in a regionally selective fashion. Neuroscience. 121(2). 509–521. 22 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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