Karen E. Heath

4.4k total citations
106 papers, 2.6k citations indexed

About

Karen E. Heath is a scholar working on Molecular Biology, Genetics and Surgery. According to data from OpenAlex, Karen E. Heath has authored 106 papers receiving a total of 2.6k indexed citations (citations by other indexed papers that have themselves been cited), including 59 papers in Molecular Biology, 58 papers in Genetics and 12 papers in Surgery. Recurrent topics in Karen E. Heath's work include Connective tissue disorders research (21 papers), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities (15 papers) and Ubiquitin and proteasome pathways (10 papers). Karen E. Heath is often cited by papers focused on Connective tissue disorders research (21 papers), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities (15 papers) and Ubiquitin and proteasome pathways (10 papers). Karen E. Heath collaborates with scholars based in Spain, United Kingdom and United States. Karen E. Heath's co-authors include Ángel Campos‐Barros, Sara Benito‐Sanz, John A. Martignetti, Marc Glucksman, Steve E. Humphries, Miriam Aza‐Carmona, James W. Brown, Pablo Lapunzina, Andrew M. Chan and Anna C. Ferrari and has published in prestigious journals such as Science, Nature Genetics and PLoS ONE.

In The Last Decade

Karen E. Heath

99 papers receiving 2.5k citations

Author Peers

Peers are selected by citation overlap in the author's most active subfields. citations · hero ref

Author Last Decade Papers Cites
Karen E. Heath 1.3k 1.1k 416 404 273 106 2.6k
Débora Romeo Bertola 2.5k 2.0× 1.3k 1.2× 115 0.3× 260 0.6× 118 0.4× 165 3.6k
Ana‐Maria Bamberger 1.3k 1.0× 745 0.7× 597 1.4× 207 0.5× 379 1.4× 87 3.9k
Benedicte A. Lie 596 0.5× 943 0.9× 294 0.7× 428 1.1× 78 0.3× 98 2.6k
Michele Rubini 1.7k 1.4× 841 0.8× 1.1k 2.7× 292 0.7× 535 2.0× 76 3.3k
Daniela Giachino 740 0.6× 343 0.3× 200 0.5× 125 0.3× 121 0.4× 51 1.6k
Jonathan D. Wasserman 1.3k 1.0× 504 0.5× 551 1.3× 623 1.5× 377 1.4× 65 2.8k
Karen A. Westerman 1.6k 1.3× 830 0.8× 85 0.2× 922 2.3× 217 0.8× 40 3.0k
Juan C. Irwin 612 0.5× 480 0.5× 531 1.3× 153 0.4× 284 1.0× 64 3.6k
Susanne N. Weber 1.1k 0.8× 370 0.4× 125 0.3× 332 0.8× 219 0.8× 68 2.0k
Chela James 743 0.6× 378 0.4× 333 0.8× 333 0.8× 96 0.4× 39 1.4k

Countries citing papers authored by Karen E. Heath

Since Specialization
Citations

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

Fields of papers citing papers by Karen E. Heath

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Karen E. Heath. 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 Karen E. Heath. The network helps show where Karen E. Heath may publish in the future.

Co-authorship network of co-authors of Karen E. Heath

This figure shows the co-authorship network connecting the top 25 collaborators of Karen E. Heath. A scholar is included among the top collaborators of Karen E. Heath 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 Karen E. Heath. Karen E. Heath 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.
Sentchordi, Lucia, Francisca Díaz, Silvia Modamio‐Høybjør, et al.. (2025). Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions. Clinical Endocrinology. 103(2). 177–184.
2.
Díaz, Francisca, et al.. (2024). Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects. European Journal of Endocrinology. 191(1). 38–46.
3.
Appelman‐Dijkstra, Natasha M., Maria Luisa Brandi, Roland Chapurlat, et al.. (2024). ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions. European Journal of Medical Genetics. 68. 104916–104916. 3 indexed citations
4.
Heath, Karen E., et al.. (2023). Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1‐related. American Journal of Medical Genetics Part A. 194(3). e63469–e63469. 1 indexed citations
5.
Dias, Patrícia, Joana Rosmaninho‐Salgado, Miriam Aza‐Carmona, et al.. (2023). Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant. European Journal of Medical Genetics. 66(11). 104867–104867. 2 indexed citations
6.
Doğan, Özlem Akgün, Francisca Díaz, Alexander A.L. Jorge, et al.. (2023). Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant. European Journal of Human Genetics. 32(10). 1250–1256.
7.
Navarro‐Compán, Victoria, Antonio Buño Soto, Karen E. Heath, et al.. (2022). Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia. Orphanet Journal of Rare Diseases. 17(1). 98–98. 5 indexed citations
8.
Leiva‐Gea, Antonio, Karen E. Heath, Purificación Marín Reina, et al.. (2022). Achondroplasia: Update on diagnosis, follow-up and treatment. Anales de Pediatría (English Edition). 97(6). 423.e1–423.e11. 4 indexed citations
9.
Illescas, T., Elena Mansilla, Beatriz Herrero, et al.. (2020). Prenatal diagnosis of fetal skeletal dysplasias in a tertiary Hospital in Spain. European Journal of Obstetrics & Gynecology and Reproductive Biology. 250. 209–215. 5 indexed citations
10.
Parrón, Manuel, Gaspar González‐Morán, Ángela del Pozo, et al.. (2020). Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature. American Journal of Medical Genetics Part A. 185(3). 856–865. 8 indexed citations
11.
Díaz, Francisca, et al.. (2020). First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction. American Journal of Medical Genetics Part A. 182(4). 628–631. 1 indexed citations
12.
Hisado-Oliva, Alfonso, Lucia Sentchordi, Mariana F.A. Funari, et al.. (2017). Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature. Genetics in Medicine. 20(1). 91–97. 50 indexed citations
13.
Benito‐Sanz, Sara, José Luís Royo, Eva Barroso, et al.. (2012). Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. Journal of Medical Genetics. 49(7). 442–450. 55 indexed citations
14.
Aza‐Carmona, Miriam, Eva Barroso, Damián Heine‐Suñer, et al.. (2011). Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia. European Journal of Human Genetics. 19(12). 1218–1225. 8 indexed citations
15.
Kim, Jae-Jung, Young-Mi Park, InSong Koh, et al.. (2011). Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height. Human Genetics. 131(3). 471–478. 23 indexed citations
16.
Demma, Linda J., Marc Traeger, Dianna M. Blau, et al.. (2006). Serologic Evidence for Exposure to Rickettsia rickettsii in Eastern Arizona and Recent Emergence of Rocky Mountain Spotted Fever in This Region. Vector-Borne and Zoonotic Diseases. 6(4). 423–429. 46 indexed citations
17.
Benito‐Sanz, Sara, N. Simon Thomas, Céline Huber, et al.. (2005). A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis. The American Journal of Human Genetics. 77(4). 533–544. 96 indexed citations
18.
Heath, Karen E., Ángel Campos‐Barros, Amos Toren, et al.. (2001). Nonmuscle Myosin Heavy Chain IIA Mutations Define a Spectrum of Autosomal Dominant Macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein, and Alport-Like Syndromes. The American Journal of Human Genetics. 69(5). 1033–1045. 205 indexed citations
19.
Martignetti, John A., Karen E. Heath, Juliette Harris, et al.. (2000). The Gene for May-Hegglin Anomaly Localizes to a <1-Mb Region on Chromosome 22q12.3-13.1. The American Journal of Human Genetics. 66(4). 1449–1454. 30 indexed citations
20.
Smith, Peter, et al.. (1995). Ovarian characteristics in Inverdale ewes heterozygous (I+) and homozygous (II) for the Inverdale gene (FecX). Proceedings of the New Zealand Society of Animal Production. 55. 301–303. 2 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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