Hubert Journel

5.0k citations

57 papers · 1.4k · h-index 23

Impact in

Genetics top 5%
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genetic Syndromes and Imprinting
Sensory Systems top 5%
- Hearing, Cochlea, Tinnitus, Genetics

Papers in

Genetics 17
- Genetic Syndromes and Imprinting 5
- Genomic variations and chromosomal abnormalities 4
- Genomics and Rare Diseases 4
Pediatrics, Perinatology and Child Health 13
- Prenatal Screening and Diagnostics 5

Co-authors: B. Le Marec (15 shared papers)M. Roussey (16 shared papers)Alain Verloès (7 shared papers)Sylvie Jaillard (4 shared papers)Dominique Bonneau (5 shared papers)G. Rault (6 shared papers)Claude Férec (6 shared papers)Véronique David (3 shared papers)
Journals: Human Genetics (5 papers)European Journal of Pediatrics (4 papers)Prenatal Diagnosis (3 papers)Journal of Medical Genetics (3 papers)European Journal of Medical Genetics (2 papers)
Partner nations: France Belgium United States

In The Last Decade

Hubert Journel

56 papers receiving 1.3k citations

Peers

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-authors

The 25 scholars most cited alongside Hubert Journel, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Hubert Journel Line = papers co-authored together Hubert Journel links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 57 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	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 ·Nathalie Le Meur, Muriel Holder‐Espinasse, Sylvie Jaillard, Alice Goldenberg, Sylvie Joriot, Patrizia Amati‐Bonneau, Agnès Guichet, M. Barth, Aude Charollais, Hubert Journel, Stéphane Auvin, Cécile Boucher, (unknown), Véronique David, Sylvie Manouvrier‐Hanu, Pascale Saugier-Véber, Thierry Frébourg, Christèle Dubourg, Joris Andrieux, Dominique Bonneau	2009	154
2	Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations Archives of Neurology ·Judith Calvo, Benoît Funalot, Robert Ouvrier, Leïla Lazaro, Annick Toutain, P. De Mas, P. Bouché, Brigitte Gilbert‐Dussardier, Marie‐Christine Arné‐Bes, Jean-Pierre Carrière, Hubert Journel, Marie-Christine Minot-Myhié, Claire Le Guillou, Karima Ghorab, Laurent Magy, Franck Sturtz, Jean‐Michel Vallat, Corinne Magdelaine	2009	94
3	The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients European Journal of Pediatrics ·C. T. R. M. Schrander‐Stumpel, Peter Meinecke, Golder N. Wilson, G. Gilleseen-Kaesbach, Sigrid Tinschert, Rainer König, N. Philip, Renata Rizzo, J. J. P. Schrander, L Pfeiffer, Anneke Maat‐Kievit, I. van der Bürgt, T. van Essen, E. Latta, U. Hillig, Alain Verloès, Hubert Journel, J P Fryns	1994	88
4	Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis The Lancet ·Virginie Scotet, Marc De Braekeleer, Michel Roussey, G. Rault, Philippe Parent, M. Dagorne, Hubert Journel, A. Lemoigne, Jean-Pierre Codet, Michel Catheline, Véronique David, André Chaventré, I. Duguépéroux, C. Verlingue, I. Quéré, Bernard Mercier, Marie‐Pierre Audrézet, Claude Férec	2000	85
5	Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma Human Genetics ·Isabelle Henry, Marc Jeanpierre, P. Couillin, F. Barichard, Jean‐Louis Serre, Hubert Journel, A. Lamouroux, C Turleau, J. de Grouchy, Claudine Junien	1989	69
6	Progressive Osseous Heteroplasia: A Model for the Imprinting Effects of GNAS Inactivating Mutations in Humans The Journal of Clinical Endocrinology & Metabolism ·M. Lebrun, Nicolas Richard, Geneviève Abéguilé, Anne David, Anne Dieux, Hubert Journel, Didier Lacombe, Graziella Pinto, Sylvie Odent, Juliette Salles, Alain Taı̈eb, S. Gandon-Laloum, Marie‐Laure Kottler	2010	52
7	Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome) European Journal of Pediatrics ·Yves Sznajer, Clarisse Baumann, Albert David, Hubert Journel, Didier Lacombe, Yves Pérel, Pascale Blouin, J. Segura, Jean‐Pierre Cézard, Michel Peuchmaur, Tomy Vulliamy, Inderjeet Dokal, Alain Verloès	2003	52
8	An mtDNA perspective of French genetic variation Annals of Human Biology ·Chrystelle Richard, Chrystelle Richard, Erwan Pennarun, Toomas Kivisild, Kristiina Tambets, Helle-Viivi Tolk, Ene Metspalu, Maere Reidla, S Chevalier, Stéphanie Giraudet, Lovorka Barać Lauc, Marijana Peričić, Pavao Rudan, M. Claustres, Hubert Journel, Ian Dorval, Claude P. Muller, Richard Villems, André Chaventré, Jean-Paul Moisan	2007	51
9	Psychological Effects of False-Positive Results in Cystic Fibrosis Newborn Screening: A Two-Year Follow-Up The Journal of Pediatrics ·J. Beucher, Emmanuelle Leray, Eric Deneuville, Monique Roblin, Isabelle Pin, François Brémont, Dominique Turck, Jean‐Louis Giniès, P. Foucaud, G. Rault, J. Derelle, Valérie David, Hubert Journel, Sophie Marchand, D. Veillard, Michel Roussey	2010	44
10	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 ·Alain Verloès, Sylviane Lesenfants, Mason Barr, Dorothy K. Grange, Hubert Journel, Jacques Lombet, Geert Mortier, Elisabeth Roeder	2000	43
11	Four-Year Follow-up of Diagnostic Service in USH1 Patients Investigative Ophthalmology & Visual Science ·Anne‐Françoise Roux, Valérie Faugère, Christel Vaché, David Baux, Thomas Besnard, Susana Léonard, Catherine Blanchet, Christian Hamel, Michel Mondain, Brigitte Gilbert‐Dussardier, Patrick Edery, Didier Lacombe, Dominique Bonneau, Muriel Holder‐Espinasse, Umberto Ambrosetti, Hubert Journel, Albert David, Geneviève Lina‐Granade, Sue Malcolm, Mireille Claustres	2011	42
12	Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene European Journal of Human Genetics ·Delphine Feldmann, Françoise Denoyelle, Natalie Loundon, Dominique Weil, Éréa-Noël Garabédian, Rémy Couderc, Alain Joannard, S. Schmerber, Bruno Delobel, Jacques Leman, Hubert Journel, Hélène Catros, Claude Ferrec, Valérie Drouin‐Garraud, Marie-Françoise Obstoy, Lucien Moati, Christine Petit, Sandrine Marlin	2003	40
13	Outcomes of intra‐detrusor injections of botulinum toxin in patients with spina bifida: A systematic review Neurourology and Urodynamics ·J. Hascoët, A. Manunta, Charlène Brochard, A. Arnaud, M. Damphousse, Hélène Meńard, J. Kerdraon, Hubert Journel, I. Bonan, Sylvie Odent, B. Frémond, Laurent Siproudhis, X. Gamé, B. Peyronnet, (unknown)	2016	37
14	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 ·Virginie Vauthier, Sylvie Jaillard, Hubert Journel, Christèle Dubourg, Ralf Jockers, Julie Dam	2012	36
15	Immunoreactive Trypsin/DNA Newborn Screening for Cystic Fibrosis: Should the R117H Variant Be Included inCFTRMutation Panels? PEDIATRICS ·Virginie Scotet, Marie‐Pierre Audrézet, Michel Roussey, G. Rault, Anne Dirou-Prigent, Hubert Journel, V. Moisan‐Petit, V. Storni, Claude Férec	2006	33
16	Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses Human Genetics ·Claude Férec, C. Verlingue, Philippe Parent, Julie Morin, Jean-Pierre Codet, G. Rault, M. Dagorne, A. Lemoigne, Hubert Journel, M. Roussey, B. Le Marec, Michel Catheline, M.‐P. Audrézet, Bernard Mercier	1995	32
17	Karyotype is not dead (yet)! European Journal of Medical Genetics ·Laurent Pasquier, Mélanie Fradin, Elouan Chérot, Dominique Martin‐Coignard, Estelle Colin, Hubert Journel, Florence Démurger, Linda Akloul, Chloé Quēlin, Vincent Jauffret, Josette Lucas, Marc‐Antoine Belaud‐Rotureau, Sylvie Odent, Sylvie Jaillard	2015	31
18	No evidence of genetic heterogeneity in dominant optic atrophy. Journal of Medical Genetics ·Dominique Bonneau, Eric Souied, S. Gerber, Jean‐Michel Rozet, E D'Haens, Hubert Journel, Ghislaine Plessis, J. Weissenbach, Arnold Munnich, Josseline Kaplan	1995	30
19	Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations Fertility and Sterility ·Pascal Philibert, Françoise Audran, Catherine Pienkowski, Isabelle Morange, Birgit Köhler, Elisabeth Flori, Claudine Heinrich, Catherine Dacou‐Voutetakis, Marie‐Geneviève Joseph, A.M. Guedj, Hubert Journel, Annie-Claude Hecart-Bruna, Ines Khotchali, Svetlana Ten, Philippe Bouchard, Françoise Paris, Charles Sultan	2009	27
20	Genotype–phenotype correlation in four 15q24 deleted patients identified by array‐CGH American Journal of Medical Genetics Part A ·Joris Andrieux, Christèle Dubourg, Marlène Rio, Tania Attié‐Bitach, Elsa Delaby, Michèle Mathieu, Hubert Journel, Henri Copin, Eléonore Blondeel, Martine Doco‐Fenzy, Emilie Landais, Bruno Delobel, Sylvie Odent, Sylvie Manouvrier‐Hanu, Muriel Holder‐Espinasse	2009	27

About Hubert Journel

Hubert Journel is a scholar working on Genetics, Pediatrics, Perinatology and Child Health, Molecular Biology, Pulmonary and Respiratory Medicine and Surgery, having authored 57 papers that have together received 1.4k indexed citations. Recurring topics across this work include Cystic Fibrosis Research Advances (8 papers), Prenatal Screening and Diagnostics (5 papers), Genetic Syndromes and Imprinting (5 papers), Congenital limb and hand anomalies (4 papers), Metabolism and Genetic Disorders (4 papers), Genomic variations and chromosomal abnormalities (4 papers), Genomics and Rare Diseases (4 papers) and Neonatal Respiratory Health Research (4 papers). The work is most often cited by research in Genetics (528 citations), Sensory Systems (71 citations), Clinical Biochemistry (71 citations), Developmental Biology (21 citations) and Pediatrics, Perinatology and Child Health (148 citations). Hubert Journel has collaborated with scholars based in France, Belgium and United States. Frequent co-authors include B. Le Marec, M. Roussey, Alain Verloès, Sylvie Jaillard, Dominique Bonneau, G. Rault, Claude Férec, Véronique David, Sylvie Odent and Muriel Holder‐Espinasse. Their work appears in journals such as Human Genetics, European Journal of Pediatrics, Prenatal Diagnosis, Journal of Medical Genetics and European Journal of Medical Genetics.

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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