J. Roume

5.9k citations

56 papers · 2.1k · h-index 23

Impact in

Genetics top 2%
- Vascular Anomalies and Treatments
- Neurogenetic and Muscular Disorders Research
- Connective tissue disorders research
- Genetic Syndromes and Imprinting
Pediatrics, Perinatology and Child Health top 2%
- Prenatal Screening and Diagnostics

Papers in

Genetics 19
- Genomic variations and chromosomal abnormalities 8
- Vascular Anomalies and Treatments 6
- Neurogenetic and Muscular Disorders Research 4
- Genetic and Kidney Cyst Diseases 4
Molecular Biology 15
- Renal and related cancers 4

Co-authors: Y. Ville (10 shared papers)Caroline Silve (2 shared papers)M. Le Merrer (4 shared papers)Alain Couvineau (1 shared paper)Jacky Bonaventure (1 shared paper)Anne‐Lise Delezoide (5 shared papers)Rodrigo Ruano (1 shared paper)M. Molho (2 shared papers)
Journals: Prenatal Diagnosis (7 papers)Ultrasound in Obstetrics and Gynecology (7 papers)The American Journal of Human Genetics (4 papers)European Journal of Medical Genetics (3 papers)Journal of Medical Genetics (2 papers)
Partner nations: France United States Switzerland

In The Last Decade

J. Roume

53 papers receiving 2.0k citations

Peers

Countries citing papers authored by J. Roume

Since Specialization

Citations

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

Fields of papers citing papers by J. Roume

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside J. Roume, 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 J. Roume Line = papers co-authored together J. Roume 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 56 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. Journal of Clinical Investigation ·Anne-Sixtine Jobert, (unknown), Alain Couvineau, Jacky Bonaventure, J. Roume, M. Le Merrer, Caroline Silve	1998	266
2	Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis Nature Genetics ·Olivier Gribouval, Marie Gonzalès, Thomas J. Neuhaus, Jacqueline Aziza, Éric Bieth, Nicole Laurent, Jean Marie Bouton, François Feuillet, Saloua Makni, H. Ben Amar, Guido F. Laube, Anne‐Lise Delezoide, Raymonde Bouvier, Frédérique Dijoud, Elisabeth Ollagnon‐Roman, J. Roume, Madeleine Joubert, Corinne Antignac, Marie-Claire Gübler	2005	211
3	Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network Genetics in Medicine ·Gaëtan Lesca, Carla Olivieri, Nelly Burnichon, Fabio Pagella, Marie‐France Carette, Brigitte Gilbert‐Dussardier, Cyril Goizet, J. Roume, Muriel Rabilloud, Jean‐Christophe Saurin, Vincent Cottin, Jérôme Honnorat, Florence Coulet, Sophie Giraud, Alain Calender, Cesare Danesino, Elisabetta Buscarini, Henri Plauchu	2007	173
4	The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy Human Molecular Genetics ·P Burlet, Céline Huber, Solange Bertrandy, Marie‐Aline Ludosky, Ingrid Zwaenepoel, Olivier Clermont, J. Roume, A. L. Delezoide, Jean Cartaud, Arnold Münnich, S. Lefebvre	1998	126
5	Prenatal diagnosis of fetal skeletal dysplasias by combining two‐dimensional and three‐dimensional ultrasound and intrauterine three‐dimensional helical computer tomography Ultrasound in Obstetrics and Gynecology ·Rodrigo Ruano, M. Molho, J. Roume, Y. Ville	2004	115
6	Thymic Abnormalities in Fetuses Aborted From Human Immunodeficiency Virus Type 1 Seropositive Women PEDIATRICS ·Martine Papiernik, Y. Brossard, N Mulliez, J. Roume, Christian Bréchot, Françis Barin, A Goudeau, Jean‐François Bach, Claude Griscelli, R Henrion, Rosemay Vazeux	1992	111
7	Absence of Functional Type 1 Parathyroid Hormone (PTH)/PTH-Related Protein Receptors in Humans Is Associated with Abnormal Breast Development and Tooth Impaction¹ The Journal of Clinical Endocrinology & Metabolism ·John J. Wysolmerski, Sarah Cormier, William M. Philbrick, Pamela Dann, Jianping Zhang, J. Roume, Anne‐Lise Delezoide, Caroline Silve	2001	109
8	Diagnosis and treatment of pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: An overview Diagnostic and Interventional Imaging ·Pascal Lacombe, Alexis Lacout, Pierre Yves Marcy, S. Binsse, J. Sellier, Mohamed Ben-Salah, Thierry Chinet, Isabelle Bourgault‐Villada, Sandra Blivet, J. Roume, Gilles Lesur, J.-H. Blondel, C. Fagnou, Augustin Ozanne, S Chagnon, Mostafa El Hajjam	2013	103
9	Perinatal‐lethal Gaucher disease American Journal of Medical Genetics Part A ·Cyril Mignot, A. Gélot, B. Bessières, F. Daffos, M Voyer, Fiorella Antonio Menez, Cristina Bianco, S. Odent, Desmond Duff, P. Loget, Patrick Fargier, J Costil, Patrice Josset, J. Roume, M. T. Vanier, I Maire, T Billette de Villemeur	2003	83
10	A Gene for Meckel Syndrome Maps to Chromosome 11q13 The American Journal of Human Genetics ·J. Roume, Emmanuelle Génin, Valérie Cormier‐Daire, Hongqi Ma, Blandine Mehaye, (unknown), F. Razavi-Encha, Catherine Fallet‐Bianco, Annie Buénerd, Françoise Clerget‐Darpoux, Arnold Münnich, M. Le Merrer	1998	73
11	Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans The American Journal of Human Genetics ·Camille Humbert, Flora Silbermann, Bharti Morar, Mélanie Parisot, Mohammed Zarhrate, Cécile Masson, Frédéric Torès, Patricia Blanchet, Marie-José Perez, (unknown), Philippe Khau Van Kien, J. Roume, Brigitte Leroy, Olivier Gribouval, Luba Kalaydjieva, Laurence Heidet, Rémi Salomon, Corinne Antignac, Alexandre Benmerah, Sophie Saunier, Marc Jeanpierre	2014	72
12	A Prevalent Mutation with Founder Effect in Xeroderma Pigmentosum Group C from North Africa Journal of Investigative Dermatology ·Nadem Soufir, Cécile Ged, Agnès Bourillon, Frédéric Austerlitz, Cécile Chemin, Anne Stary, J. Armier, Danièle Pham, (unknown), J. Roume, S. Hadj‐Rabia, B. Bouadjar, Alain Taı̈eb, Hubert de Verneuil, Hakima Benchiki, Bernard Grandchamp, Alain Sarasin	2010	70
13	Array Comparative Genomic Hybridization in Prenatal Diagnosis: Another Experience Fetal Diagnosis and Therapy ·François Vialard, D. Molina Gomes, Bonnie S. LeRoy, E. Quarello, A. Escalona, C. Le Sciellour, Valérie Serazin, J. Roume, Y. Ville, Philippe de Mazancourt, J. Selva	2009	61
14	Mutations in two regions ofFLNBresult in atelosteogenesis I and III Human Mutation ·Claire Farrington‐Rock, Marc H. Firestein, Louise S. Bicknell, Andrea Superti‐Furga, Carlos A. Bacino, Valérie Cormier‐Daire, Martine Le Merrer, Clarisse Baumann, J. Roume, Patrick Rump, (unknown), Elizabeth Sweeney, David L. Rimoin, Ralph S. Lachman, Stephen P. Robertson, Daniel H. Cohn, Deborah Krakow	2006	55
15	Long-term outcome of children born after a first-trimester measurement of nuchal translucency at the 99th percentile or greater with normal karyotype: A prospective study American Journal of Obstetrics and Gynecology ·Marie‐Victoire Sénat, L. Bussières, Sophie Couderc, J. Roume, Patrick Rozenberg, Jean Bouyer, Y. Ville	2007	50
16	Familial blomstrand chondrodysplasia with advanced skeletal maturation: Further delineation American Journal of Medical Genetics ·Ara Loshkajian, J. Roume, V. Stănescu, Anne‐Lise Delezoide, Françoise Stampf, P Maroteaux	1997	45
17	Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia The American Journal of Human Genetics ·Céline Huber, Eissa Faqeih, Deborah Bartholdi, Christine Bôle‐Feysot, Zvi Borochowitz, Denise P. Cavalcanti, Amandine Frigo, Patrick Nitschké, J. Roume, Heloísa G. dos Santos, Stavit Shalev, Andrea Superti‐Furga, Anne‐Lise Delezoide, Martine Le Merrer, Arnold Münnich, Valérie Cormier‐Daire	2012	43
18	Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness Prenatal Diagnosis ·Richard Kharrat, M. Yamamoto, J. Roume, Sophie Couderc, François Vialard, Y. Hillion, Y. Ville	2006	34
19	Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. Journal of Medical Genetics ·Alain Verloès, Ségolène Aymé, D. Gambarelli, M. Gonzalés, M. Le Merrer, N Mulliez, N. Philip, J. Roume	1991	32
20	Prenatal diagnosis of hydrocephalus‐stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases Prenatal Diagnosis ·Marie‐Victoire Sénat, J. P. Bernard, A. L. Delezoide, Pascale Saugier-Véber, Y. Hillion, J. Roume, Y. Ville	2001	32

About J. Roume

J. Roume is a scholar working on Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health, Genetics and Surgery, having authored 56 papers that have together received 2.1k indexed citations. Recurring topics across this work include Prenatal Screening and Diagnostics (8 papers), Genomic variations and chromosomal abnormalities (8 papers), Congenital Anomalies and Fetal Surgery (7 papers), Fetal and Pediatric Neurological Disorders (6 papers), Vascular Anomalies and Treatments (6 papers), Renal and related cancers (4 papers), Neurogenetic and Muscular Disorders Research (4 papers) and Genetic and Kidney Cyst Diseases (4 papers). The work is most often cited by research in Genetics (465 citations), Pediatrics, Perinatology and Child Health (376 citations), Virology (88 citations), Genetics (504 citations) and Molecular Biology (938 citations). J. Roume has collaborated with scholars based in France, United States and Switzerland. Frequent co-authors include Y. Ville, Caroline Silve, M. Le Merrer, Alain Couvineau, Jacky Bonaventure, Anne‐Lise Delezoide, Rodrigo Ruano, M. Molho, N Mulliez and Arnold Münnich. Their work appears in journals such as Prenatal Diagnosis, Ultrasound in Obstetrics and Gynecology, The American Journal of Human Genetics, European Journal of Medical Genetics and 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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J. Roume

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