Maria Descartes

2.8k total citations
34 papers, 720 citations indexed

About

Maria Descartes is a scholar working on Genetics, Molecular Biology and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, Maria Descartes has authored 34 papers receiving a total of 720 indexed citations (citations by other indexed papers that have themselves been cited), including 22 papers in Genetics, 16 papers in Molecular Biology and 9 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in Maria Descartes's work include Genomic variations and chromosomal abnormalities (14 papers), Prenatal Screening and Diagnostics (6 papers) and Congenital heart defects research (5 papers). Maria Descartes is often cited by papers focused on Genomic variations and chromosomal abnormalities (14 papers), Prenatal Screening and Diagnostics (6 papers) and Congenital heart defects research (5 papers). Maria Descartes collaborates with scholars based in United States, Egypt and Canada. Maria Descartes's co-authors include Andrew J. Carroll, Fady M. Mikhail, S. Lane Rutledge, Nathaniel H. Robin, Edward J. Lose, Bruce R. Korf, Lynn Holt, Joseph Biggio, John Longshore and Teresita Díaz de Ståhl and has published in prestigious journals such as Journal of Allergy and Clinical Immunology, American Journal of Obstetrics and Gynecology and Journal of Medical Genetics.

In The Last Decade

Maria Descartes

34 papers receiving 696 citations

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name h Career Trend Papers Cites
Maria Descartes United States 16 431 399 94 72 72 34 720
Pilar Magoulas United States 15 290 0.7× 383 1.0× 132 1.4× 73 1.0× 60 0.8× 24 727
Rita Genesio Italy 19 463 1.1× 496 1.2× 204 2.2× 92 1.3× 73 1.0× 52 998
Sylvie Jaillard France 16 397 0.9× 435 1.1× 148 1.6× 48 0.7× 51 0.7× 54 802
Gülen Eda Ütine Türkiye 14 373 0.9× 367 0.9× 77 0.8× 66 0.9× 45 0.6× 114 715
Meena Balasubramanian United Kingdom 18 555 1.3× 310 0.8× 72 0.8× 79 1.1× 44 0.6× 74 802
Soo‐Mi Park United Kingdom 15 258 0.6× 464 1.2× 46 0.5× 74 1.0× 43 0.6× 39 794
Rosemarie Smith United States 11 336 0.8× 409 1.0× 63 0.7× 151 2.1× 92 1.3× 21 744
Gerarda Cappuccio Italy 15 287 0.7× 348 0.9× 55 0.6× 62 0.9× 33 0.5× 59 611
Patricia I. Bader United States 18 584 1.4× 619 1.6× 180 1.9× 94 1.3× 40 0.6× 32 1.1k
Maja Hempel Germany 19 342 0.8× 511 1.3× 116 1.2× 58 0.8× 50 0.7× 58 855

Countries citing papers authored by Maria Descartes

Since Specialization
Citations

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

Fields of papers citing papers by Maria Descartes

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Maria Descartes

This figure shows the co-authorship network connecting the top 25 collaborators of Maria Descartes. A scholar is included among the top collaborators of Maria Descartes 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 Maria Descartes. Maria Descartes 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.
Rojnueangnit, Kitiwan & Maria Descartes. (2018). Congenital central hypoventilation syndrome mimicking mitochondrial disease. Clinical Case Reports. 6(3). 465–468. 1 indexed citations
2.
Gomes, Alicia, et al.. (2018). A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome. Journal of Pediatric Genetics. 7(4). 174–179. 12 indexed citations
3.
Curtiss, Miranda L., Maria Descartes, Bruce R. Korf, & T. Prescott Atkinson. (2017). A child with hyper-IgM syndrome and multiple endocrinopathies with mutations in signal transducer and activator 5B (STAT5B), phosphatidylinositol 3-kinase catalytic subunit delta (PIK3CD) and phosphatidylinositol 3-kinase regulatory subunit 1 (PIK3R1). Journal of Allergy and Clinical Immunology. 139(2). AB172–AB172. 1 indexed citations
4.
Mikhail, Fady M., Rachel D. Burnside, Jennifer Ibrahim, et al.. (2013). The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system. Genetics in Medicine. 16(1). 92–100. 34 indexed citations
5.
Wiszniewska, Joanna, Weimin Bi, Chad A. Shaw, et al.. (2013). Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. European Journal of Human Genetics. 22(1). 79–87. 77 indexed citations
6.
Descartes, Maria, et al.. (2011). Monosomy1p36.3 and Trisomy 19p13.3 in a Child With Periventricular Nodular Heterotopia. Pediatric Neurology. 45(4). 274–278. 7 indexed citations
7.
Mikhail, Fady M., Edward J. Lose, Nathaniel H. Robin, et al.. (2011). Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. American Journal of Medical Genetics Part A. 155(10). 2386–2396. 129 indexed citations
9.
Dimmock, David, Lin-ya Tang, Maria Descartes, et al.. (2009). A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping. Mitochondrion. 10(2). 188–191. 13 indexed citations
10.
Descartes, Maria, Teresita Díaz de Ståhl, Arkadiusz Piotrowski, et al.. (2008). Distal 22q11.2 microduplication encompassing the BCR gene. American Journal of Medical Genetics Part A. 146A(23). 3075–3081. 26 indexed citations
11.
Descartes, Maria, et al.. (2008). Constitutional H19 hypermethylation in a patient with isolated cardiac tumor. American Journal of Medical Genetics Part A. 146A(16). 2126–2129. 8 indexed citations
12.
Mikhail, Fady M., Maria Descartes, Arkadiusz Piotrowski, et al.. (2007). A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene. American Journal of Medical Genetics Part A. 143A(18). 2178–2184. 34 indexed citations
13.
Descartes, Maria. (2006). Oculoauriculovertebral spectrum with 5p15.33-pter deletion. Clinical Dysmorphology. 15(3). 153–154. 15 indexed citations
14.
Mikhail, Fady M., et al.. (2006). Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2). American Journal of Medical Genetics Part A. 140A(15). 1647–1654. 10 indexed citations
15.
Biggio, Joseph, Maria Descartes, Andrew J. Carroll, & Lynn Holt. (2003). Congenital diaphragmatic hernia: Is 15q26.1‐26.2 a candidate locus?. American Journal of Medical Genetics Part A. 126A(2). 183–185. 55 indexed citations
16.
Wenstrom, Katharine D., et al.. (1999). A five-year experience with fragile X screening of high-risk gravid women. American Journal of Obstetrics and Gynecology. 181(4). 789–792. 5 indexed citations
17.
Tarleton, Jack, et al.. (1997). Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles. American Journal of Medical Genetics. 73(4). 447–455. 13 indexed citations
18.
Descartes, Maria, et al.. (1997). Acrocallosal syndrome: A case report. The Journal Of Hand Surgery. 22(3). 492–494. 8 indexed citations
19.
Descartes, Maria, et al.. (1997). Identification of a recombination event narrowing the Lafora disease gene region.. Journal of Medical Genetics. 34(7). 590–591. 5 indexed citations
20.
Seltzer, William, et al.. (1991). Screening for cystic fibrosis: Feasibility of molecular genetic analysis of dried blood specimens. Biochemical Medicine and Metabolic Biology. 46(1). 105–109. 27 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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