Hubert Journel

4.9k total citations
57 papers, 1.4k citations indexed

About

Hubert Journel is a scholar working on Genetics, Pediatrics, Perinatology and Child Health and Molecular Biology. According to data from OpenAlex, Hubert Journel has authored 57 papers receiving a total of 1.4k indexed citations (citations by other indexed papers that have themselves been cited), including 21 papers in Genetics, 15 papers in Pediatrics, Perinatology and Child Health and 13 papers in Molecular Biology. Recurrent topics in Hubert Journel's work include Cystic Fibrosis Research Advances (8 papers), Prenatal Screening and Diagnostics (7 papers) and Genomics and Rare Diseases (6 papers). Hubert Journel is often cited by papers focused on Cystic Fibrosis Research Advances (8 papers), Prenatal Screening and Diagnostics (7 papers) and Genomics and Rare Diseases (6 papers). Hubert Journel collaborates with scholars based in France, Belgium and United States. Hubert Journel's co-authors include B. Le Marec, Alain Verloès, M. Roussey, Sylvie Jaillard, Dominique Bonneau, G. Rault, Sylvie Odent, Claude Férec, Véronique David and Muriel Holder‐Espinasse and has published in prestigious journals such as The Lancet, The Journal of Clinical Endocrinology & Metabolism and PEDIATRICS.

In The Last Decade

Hubert Journel

56 papers receiving 1.3k citations

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Hubert Journel France 23 563 559 229 191 128 57 1.4k
Alan Shanske United States 26 976 1.7× 931 1.7× 141 0.6× 310 1.6× 240 1.9× 84 1.9k
Géraldine Viot France 21 674 1.2× 647 1.2× 109 0.5× 280 1.5× 144 1.1× 56 1.4k
Isabelle Russell‐Eggitt United Kingdom 26 1.1k 1.9× 1.0k 1.9× 126 0.6× 191 1.0× 233 1.8× 58 2.4k
David R. Witt United States 17 694 1.2× 444 0.8× 619 2.7× 186 1.0× 133 1.0× 23 1.9k
Christel Thauvin‐Robinet France 21 762 1.4× 532 1.0× 106 0.5× 116 0.6× 166 1.3× 80 1.4k
Sandra Janssens Belgium 20 483 0.9× 430 0.8× 325 1.4× 293 1.5× 120 0.9× 66 1.5k
Patricia G. Wheeler United States 22 529 0.9× 400 0.7× 91 0.4× 194 1.0× 151 1.2× 41 1.1k
Alessandra Murgia Italy 23 724 1.3× 638 1.1× 98 0.4× 70 0.4× 112 0.9× 76 1.6k
Sulagna C. Saitta United States 24 1.1k 2.0× 1.0k 1.8× 252 1.1× 219 1.1× 180 1.4× 42 1.9k
Renata Laxová United States 19 765 1.4× 623 1.1× 61 0.3× 289 1.5× 157 1.2× 53 1.6k

Countries citing papers authored by Hubert Journel

Since Specialization
Citations

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

Fields of papers citing papers by Hubert Journel

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Hubert Journel

This figure shows the co-authorship network connecting the top 25 collaborators of Hubert Journel. A scholar is included among the top collaborators of Hubert Journel 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 Hubert Journel. Hubert Journel 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.
Pasquier, Laurent, Mélanie Fradin, Dominique Martin‐Coignard, et al.. (2015). Karyotype is not dead (yet)!. European Journal of Medical Genetics. 59(1). 11–15. 31 indexed citations
2.
Vauthier, Virginie, Sylvie Jaillard, Hubert Journel, et al.. (2012). Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy. Molecular Genetics and Metabolism. 106(3). 345–350. 36 indexed citations
3.
Kraoua, Lilia, Hubert Journel, Jeanne Amiel, et al.. (2012). Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia. American Journal of Medical Genetics Part A. 158A(10). 2407–2411. 15 indexed citations
4.
Beucher, J., Emmanuelle Leray, Eric Deneuville, et al.. (2010). Psychological Effects of False-Positive Results in Cystic Fibrosis Newborn Screening: A Two-Year Follow-Up. The Journal of Pediatrics. 156(5). 771–776.e1. 43 indexed citations
5.
Andrieux, Joris, Christèle Dubourg, Marlène Rio, et al.. (2009). Genotype–phenotype correlation in four 15q24 deleted patients identified by array‐CGH. American Journal of Medical Genetics Part A. 149A(12). 2813–2819. 27 indexed citations
6.
Meur, Nathalie Le, Muriel Holder‐Espinasse, Sylvie Jaillard, et al.. (2009). MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. Journal of Medical Genetics. 47(1). 22–29. 150 indexed citations
7.
Funalot, Benoît, Robert Ouvrier, Leïla Lazaro, et al.. (2009). Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations. Archives of Neurology. 66(12). 1511–6. 92 indexed citations
8.
Pennarun, Erwan, Toomas Kivisild, Kristiina Tambets, et al.. (2007). An mtDNA perspective of French genetic variation. Annals of Human Biology. 34(1). 68–79. 50 indexed citations
9.
Sznajer, Yves, Clarisse Baumann, Albert David, et al.. (2003). Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). European Journal of Pediatrics. 162(12). 863–867. 51 indexed citations
10.
Feldmann, Delphine, Françoise Denoyelle, Natalie Loundon, et al.. (2003). Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene. European Journal of Human Genetics. 12(4). 279–284. 40 indexed citations
11.
Verloès, Alain, Mason Barr, Dorothy K. Grange, et al.. (2000). Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. American Journal of Medical Genetics. 90(5). 407–422. 43 indexed citations
12.
Scotet, Virginie, Marc De Braekeleer, Michel Roussey, et al.. (2000). Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis. The Lancet. 356(9232). 789–794. 85 indexed citations
13.
Cormier‐Daire, Valérie, Claude Wolf, Arnold Münnich, et al.. (1996). Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes. European Journal of Pediatrics. 155(8). 656–659. 10 indexed citations
14.
Férec, Claude, C. Verlingue, Philippe Parent, et al.. (1995). Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses. Human Genetics. 96(5). 542–548. 32 indexed citations
15.
Schneider, Silvia, M. Roussey, S. Odent, et al.. (1994). [Reflections on 10 years of medically induced abortions in Ille-et-Vilaine].. PubMed. 23(2). 157–65. 3 indexed citations
16.
Schrander‐Stumpel, C. T. R. M., Peter Meinecke, Golder N. Wilson, et al.. (1994). The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients. European Journal of Pediatrics. 153(6). 438–445. 88 indexed citations
17.
Caillaud, Catherine, Françoise Rey, Philippe Labrune, et al.. (1991). Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus. Human Genetics. 86(4). 355–358. 25 indexed citations
18.
Kaplan, Jeffrey, Anna Pelet, M Guilloud-Bataille, et al.. (1990). [An example of detection of heterozygotes and antenatal diagnosis in four families with anhidrotic ectodermal dysplasia].. PubMed. 37(1). 13–9. 2 indexed citations
19.
Journel, Hubert, et al.. (1986). Manifestations oculaires de la trisomie 21. Etude de cinquante-trois cas et revue de la littérature.. 33(5). 3428–3433. 1 indexed citations
20.
Carsin, Anne‐Elie, Hubert Journel, M. Roussey, & B. Le Marec. (1986). [Incidence of occult lumbro-sacral spina bifida in parents of children with spina bifida (concerning 80 pairs of parents with affected children)].. PubMed. 34(3-4). 285–92. 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.

Explore authors with similar magnitude of impact

Rankless by CCL
2026