J. Roume

5.8k citations

51 papers · 1.8k · h-index 22

Impact in

Genetics top 2%
- Vascular Anomalies and Treatments
- Neurogenetic and Muscular Disorders Research
Virology top 5%

Papers in

Genetics 19
- Genomic variations and chromosomal abnormalities 8
- Vascular Anomalies and Treatments 6
- Genetic and Kidney Cyst Diseases 4
- Connective tissue disorders research 4
Pediatrics, Perinatology and Child Health 16
- Prenatal Screening and Diagnostics 12
- Fetal and Pediatric Neurological Disorders 7

Co-authors: Y. Ville (10 shared papers)Caroline Silve (2 shared papers)M. Le Merrer (4 shared papers)Zhang Ping (1 shared paper)Jacky Bonaventure (1 shared paper)Alain Couvineau (1 shared paper)Anne‐Lise Delezoide (5 shared papers)M. Molho (2 shared papers)
Journals: Prenatal Diagnosis (7 papers)Ultrasound in Obstetrics and Gynecology (6 papers)European Journal of Medical Genetics (3 papers)The American Journal of Human Genetics (2 papers)Journal of Medical Genetics (2 papers)
Partner nations: France United States Switzerland

In The Last Decade

J. Roume

49 papers receiving 1.7k 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 51 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, Zhang Ping, Alain Couvineau, Jacky Bonaventure, J. Roume, M. Le Merrer, Caroline Silve	1998	196
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	178
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	157
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	122
5	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	104
6	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	99
7	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	98
8	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	82
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	75
10	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, K. Khadir, J. Roume, S. Hadj‐Rabia, B. Bouadjar, Alain Taı̈eb, Hubert de Verneuil, Hakima Benchiki, Bernard Grandchamp, Alain Sarasin	2010	69
11	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	60
12	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	60
13	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, Joanne Verheij, Elizabeth Sweeney, David L. Rimoin, Ralph S. Lachman, Stephen P. Robertson, Daniel H. Cohn, Deborah Krakow	2006	51
14	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	48
15	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	41
16	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
17	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	29
18	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	23
19	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	22
20	Splenogonadal fusion limb defect syndrome: Report of five new cases and review American Journal of Medical Genetics ·Dominique Bonneau, J. Roume, Marie Gonzalez, Annick Toutain, Dominique Carles, Martine Mar�chaud, Val�rie Biran-Mucignat, Patrizia Amati, Claude Moraine	1999	21

About J. Roume

J. Roume is a scholar working on Genetics, Pediatrics, Perinatology and Child Health, Surgery, Molecular Biology and Genetics, having authored 51 papers that have together received 1.8k indexed citations. Recurring topics across this work include Prenatal Screening and Diagnostics (12 papers), Congenital Anomalies and Fetal Surgery (10 papers), Genomic variations and chromosomal abnormalities (8 papers), Fetal and Pediatric Neurological Disorders (7 papers), Vascular Anomalies and Treatments (6 papers), Tracheal and airway disorders (5 papers), Genetic and Kidney Cyst Diseases (4 papers) and Connective tissue disorders research (4 papers). The work is most often cited by research in Genetics (439 citations), Virology (88 citations), Pediatrics, Perinatology and Child Health (351 citations), Genetics (475 citations) and Molecular Biology (844 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, Zhang Ping, Jacky Bonaventure, Alain Couvineau, Anne‐Lise Delezoide, M. Molho, Rodrigo Ruano and N Mulliez. Their work appears in journals such as Prenatal Diagnosis, Ultrasound in Obstetrics and Gynecology, European Journal of Medical Genetics, The American Journal of Human 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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