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, Scott L. Friedman and Jesús Argente 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

Peers

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

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20 of 20 papers shown

#	Work	Indexed citations
1	Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions 2025 ·Clinical Endocrinology ·Lucia Sentchordi, Francisca Díaz, Silvia Modamio‐Høybjør, Julián Nevado, (unknown), Atilano Carcavilla, M. Salcedo, Jorge Saraiva, Sarina G. Kant, Christiaan de Bruin, Hermine A. van Duyvenvoorde, (unknown), (unknown), (unknown), (unknown), J Sáez, Manuel Parrón, Sérgio B. Sousa, Karen E. Heath	0
2	Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects 2024 ·European Journal of Endocrinology ·Francisca Díaz, Lucia Sentchordi, (unknown), Silvia Modamio‐Høybjør, Karen E. Heath	0
3	ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions 2024 ·European Journal of Medical Genetics ·(unknown), Natasha M. Appelman‐Dijkstra, Maria Luisa Brandi, Roland Chapurlat, Valérie Cormier‐Daire, Neveen A. T. Hamdy, Karen E. Heath, Joachim Horn, Giovanna Mantovani, Klaus Mohnike, (unknown), (unknown), Lena Lande Wekre, M. Carola Zillikens, Luca Sangiorgi	3
4	Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant 2023 ·European Journal of Medical Genetics ·(unknown), Patrícia Dias, Joana Rosmaninho‐Salgado, Miriam Aza‐Carmona, Oana Moldovan, Francisca Díaz, Fátima Godinho, José Carlos Romeu, Filipa Oliveira‐Ramos, (unknown), Sérgio B. Sousa, Karen E. Heath, Ana Berta Sousa	2
5	Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1‐related 2023 ·American Journal of Medical Genetics Part A ·(unknown), Karen E. Heath, Silvia Modamio‐Høybjør, (unknown), (unknown), (unknown), Virginia Fano	1
6	Achondroplasia: Update on diagnosis, follow-up and treatment 2022 ·Anales de Pediatría (English Edition) ·Antonio Leiva‐Gea, (unknown), (unknown), (unknown), Karen E. Heath, Purificación Marín Reina, Encarna Guillén‐Navarro, Fernando Santos‐Simarro, Isolina Riaño Galán, Diego Yeste, Isabel Leiva‐Gea	4
7	Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2 2021 ·European Journal of Medical Genetics ·(unknown), (unknown), (unknown), Silvia Modamio‐Høybjør, (unknown), Manuel Parrón, Karen E. Heath, Enrique Galán‐Gómez	3
8	Prenatal diagnosis of fetal skeletal dysplasias in a tertiary Hospital in Spain 2020 ·European Journal of Obstetrics & Gynecology and Reproductive Biology ·T. Illescas, Elena Mansilla, Beatriz Herrero, R. Rodríguez, José Francisco Juárez López, Miriam Aza‐Carmona, Rita María Regojo, Fernando Santos‐Simarro, Karen E. Heath, José Luis Bartha, E. Antolín	5
9	IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy 2017 ·The Journal of Clinical Endocrinology & Metabolism ·Gabriela A. Vasques, Mariana F.A. Funari, Frederico Moraes Ferreira, Miriam Aza‐Carmona, Lucia Sentchordi, (unknown), Antônio Marcondes Lerário, Guilherme Lopes Yamamoto, Michel Satya Naslavsky, Yeda A. O. Duarte, Débora Romeo Bertola, Karen E. Heath, Alexander A.L. Jorge	46
10	Multiple SLC26A2 mutations occurring in a three-generational family 2017 ·European Journal of Medical Genetics ·(unknown), (unknown), Manuel Parrón, (unknown), Karen E. Heath, I. González Casado	8
11	Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium 2015 ·Human Molecular Genetics ·José A. Caparrós‐Martín, Alessandro De Luca, François Cartault, Mona Aglan, Samia A. Temtamy, Ghada A. Otaify, (unknown), Eulalia Valencia, (unknown), (unknown), Julián Nevado, (unknown), Karen E. Heath, M. Cristina Digilio, Bruno Dallapiccola, Judith A. Goodship, Pleasantine Mill, Pablo Lapunzina, Víctor L. Ruiz‐Pérez	42
12	Suprasellar mass mimicking a hypothalamic glioma in a patient with a complete PROP1 deletion 2013 ·European Journal of Medical Genetics ·Arzu Akçay, Korkut Ulucan, (unknown), Mehmet Boyraz, Teoman Akçay, Olga Zurita, Ana Gómez, Karen E. Heath, Ángel Campos‐Barros	7
13	Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer 2012 ·Journal of Medical Genetics ·Sara Benito‐Sanz, José Luís Royo, Eva Barroso, Beatriz Paumard‐Hernández, (unknown), Pengfei Liu, Ricardo Gracía, James R. Lupski, Ángel Campos‐Barros, José Luis Gómez-Skármeta, Karen E. Heath	55
14	Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia 2011 ·European Journal of Human Genetics ·(unknown), Miriam Aza‐Carmona, Eva Barroso, Damián Heine‐Suñer, Dimitar N. Azmanov, Jordi Rosell, Begoña Ezquieta, (unknown), (unknown), Jaime Cruz‐Rojo, Fernando Santos, José Ignacio Rodrı́guez, (unknown), Jesús Argente, Luba Kalaydjieva, Ricardo Gracía, Ángel Campos‐Barros, Sara Benito‐Sanz, Karen E. Heath	8
15	Serologic Evidence for Exposure to Rickettsia rickettsii in Eastern Arizona and Recent Emergence of Rocky Mountain Spotted Fever in This Region 2006 ·Vector-Borne and Zoonotic Diseases ·Linda J. Demma, Marc Traeger, Dianna M. Blau, (unknown), Brian J. Johnson, (unknown), (unknown), (unknown), Craig Levy, William L. Nicholson, C.J. Duncan, Karen E. Heath, James E. Cheek, David L. Swerdlow, Jennifer H. McQuiston	46
16	Nonmuscle Myosin Heavy Chain IIA Mutations Define a Spectrum of Autosomal Dominant Macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein, and Alport-Like Syndromes 2001 ·The American Journal of Human Genetics ·Karen E. Heath, Ángel Campos‐Barros, Amos Toren, Galit Rozenfeld-Granot, Lena E. Carlsson, Judy Savige, (unknown), Martin C. Gregory, James G. White, David F. Barker, Andreas Greinacher, Charles J. Epstein, Marc Glucksman, John A. Martignetti	205
17	A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom 2001 ·European Journal of Human Genetics ·Karen E. Heath, Steve E. Humphries, Helen Middleton‐Price, Maureen Boxer	85
18	The Gene for May-Hegglin Anomaly Localizes to a <1-Mb Region on Chromosome 22q12.3-13.1 2000 ·The American Journal of Human Genetics ·John A. Martignetti, Karen E. Heath, Juliette Harris, Nicola Bizzaro, Anna Savoia, C Balduini, (unknown)	30
19	The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia 1999 ·Atherosclerosis ·Karen E. Heath, Vilmundur Guðnason, Steve E. Humphries, Mary Seed	70
20	Ovarian characteristics in Inverdale ewes heterozygous (I+) and homozygous (II) for the Inverdale gene (FecX) 1995 ·Proceedings of the New Zealand Society of Animal Production ·(unknown), Peter Smith, (unknown), (unknown), Karen E. Heath, G. H. Shackell, (unknown)	2

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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