Michèle Mathieu

2.2k citations

24 papers · 1.8k · h-index 16

Impact in

Reproductive Medicine top 2%
- Hypothalamic control of reproductive hormones
Genetics top 5%
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Connective tissue disorders research
- Genetics and Neurodevelopmental Disorders

Papers in

Genetics 15
- Genomic variations and chromosomal abnormalities 4
- Genetics and Neurodevelopmental Disorders 4
- Connective tissue disorders research 4
- Genomics and Rare Diseases 3
- Dermatological and Skeletal Disorders 1
Developmental Biology 4
- Congenital limb and hand anomalies 4

Co-authors: Christine Petit (3 shared papers)Jacqueline Levilliers (3 shared papers)Arnaud Murat (2 shared papers)Jacques Young (2 shared papers)Philippe Bouchard (2 shared papers)Alexandre Moerman (2 shared papers)Marie-Laure Kottler (2 shared papers)Marc Delpech (2 shared papers)
Journals: European Journal of Medical Genetics (3 papers)Human Mutation (2 papers)PLoS Genetics (2 papers)Nature Genetics (2 papers)Prenatal Diagnosis (2 papers)
Partner nations: France United Kingdom Belgium

In The Last Decade

Michèle Mathieu

23 papers receiving 1.7k citations

Peers

Countries citing papers authored by Michèle Mathieu

Since Specialization

Citations

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

Fields of papers citing papers by Michèle Mathieu

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Michèle Mathieu, 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 Michèle Mathieu Line = papers co-authored together Michèle Mathieu 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 24 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection Nature Genetics ·Yanick Joseph Crow, Andrea Leitch, Bruce E. Hayward, Anna Garner, Rekha Parmar, Elen Griffith, Manir Ali, Colin A M Semple	2006	602
2	Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2 PLoS Genetics ·Catherine Dodé, Luís Teixeira, Jacqueline Levilliers, Corinne Fouveaut, Philippe Bouchard, Marie-Laure Kottler, James Lespinasse, Anne Lienhardt-Roussie	2006	379
3	Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients European Journal of Human Genetics ·Kristien Hoornaert, Inge Vereecke, Chantal Dewinter, Thomas Rosenberg, Frits A. Beemer, Jules G. Leroy, Laila Bendix, Erik Björck	2010	116
4	A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes The Journal of Clinical Endocrinology & Metabolism ·Julie Sarfati, Anne Guiochon‐Mantel, Philippe Rondard, Isabelle Arnulf, Alfonso García-Piñero, Sławomir Wołczyński, Sylvie Brailly‐Tabard, Maud Bidet	2009	114
5	15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients European Journal of Medical Genetics ·Clémence Vanlerberghe, Florence Petit, Valérie Malan, Catherine Vincent‐Delorme, Sonia Bouquillon, Odile Boute, Muriel Holder‐Espinasse, Bruno Delobel	2015	88
6	Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes Clinical Journal of the American Society of Nephrology ·Leire Madariaga, Vincent Morinière, Raymonde Bouvier, Philippe Loget, Jéléna Martinovic, Nathalie Leporrier, Christel Thauvin‐Robinet, Uffe Birk Jensen	2013	87
7	Phenotypic Spectrum of Simpson– G olabi– B ehmel Syndrome in a Series of 42 Cases With a Mutation in GPC 3 and Review of the Literature American Journal of Medical Genetics Part C Seminars in Medical Genetics ·Edouard Cottereau, Isabelle Mortemousque, Marie‐Pierre Moizard, Lydie Bürglen, Didier Lacombe, Brigitte Gilbert‐Dussardier, Sabine Sigaudy, Odile Boute	2013	79
8	Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility Human Mutation ·Marie‐Claire Dieu, Sophie Lejeune, Fabienne Escande, Denis Boidin, Nicole Porchet, Gilles Morin, Sylvie Manouvrier‐Hanu, Michèle Mathieu	2011	49
9	A gene for Holt–Oram syndrome maps to the distal long arm of chromosome 12 Nature Genetics ·Damien Bonnet, Anna Pelet, Laurence Legeai‐Mallet, Daniel Sidi, Michèle Mathieu, Henri Plauchu, Françoise Serville, Albert Schinzel	1994	39
10	A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata Human Molecular Genetics ·Dominique Well, Marie‐France Portnoï, Jacqueline Levilliers, Irène Wang, Michèle Mathieu, Jean-Louis Talliemite, Murielle Meler, Bernard R. Boudailliez	1993	36
11	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	2009	33
12	Osteopathia striata cranial sclerosis: Non‐random X‐inactivation suggestive of X‐linked dominant inheritance American Journal of Medical Genetics ·Géraldine Viot, Didier Lacombe, Albert David, Michèle Mathieu, A. de Broca, Laurence Olivier Faivre, Nadine Gigarel, Arnold Münnich	2002	32
13	Deleterious mutations in exon 1 of MECP2 in Rett syndrome European Journal of Medical Genetics ·Aline Quenard, Saliha Yılmaz, Thierry Bienvenu, Anne Moncla, V. des Portes, François Rivier, Michèle Mathieu, Grégory Raux	2005	29
14	Demonstration of the Recurrence of Marfan-like Skeletal and Cardiovascular Manifestations Due to Germline Mosaicism for an FBN1 Mutation The American Journal of Human Genetics ·Gwenaëlle Collod‐Béroud, Marilyn Lackmy-Port-Lis, Guillaume Jondeau, Michèle Mathieu, Y. Maingourd, Monique Coulon, Michel Guillotel, Claudine Junien	1999	28
15	Genomic deletions ofOFD1account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing Human Mutation ·Christel Thauvin‐Robinet, Brunella Franco, Pascale Saugier-Véber, Bernard Aral, Nadège Gigot, Anne Donzel, Lionel Van Maldergem, Éric Bieth	2008	23
16	Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: A family report Annales d Endocrinologie ·Guillaume Jedraszak, Karine Braun, Aline Receveur, Matthieu Décamp, Joris Andrieux, Amrathlal Rabbind Singh, Henri Copin, Dominique Brémond‐Gignac	2015	18
17	Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling Prenatal Diagnosis ·Brigitte Simon‐Bouy, Agnes Taillandier, Delphine Fauvert, Isabelle Brun Heath, Jean‐Louis Serre, Carmen González Armengod, Martin G. Bialer, Michèle Mathieu	2008	15
18	Lumping Juberg–Marsidi syndrome and X‐linked α‐thalassemia/mental retardation syndrome? American Journal of Medical Genetics ·Pascale Saugier-Véber, Arnold Münnich, Stanislas Lyonnet, Annick Toutain, Claude Moraine, C Piussan, Michèle Mathieu, Richard J. Gibbons	1995	13
19	Cerebro‐costo‐mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission Prenatal Diagnosis ·Gilles Morin, Jean Gekas, Philippe Naepels, Jean Gondry, Bernard Devauchelle, Sylvie Testelin, Henri Sevestre, F. Thépot	2001	11
20	Additional familial case of subtotal leukonychia and sebaceous cysts (Bauer syndrome): Belong the nervous tumours to the phenotype? European Journal of Medical Genetics ·Gilles Morin, Christine Desenclos, Cécile Jeanpetit, Nicolas Lévy, Herve Deramond, Michèle Mathieu	2008	6

About Michèle Mathieu

Michèle Mathieu is a scholar working on Genetics, Developmental Biology, Reproductive Medicine, Pediatrics, Perinatology and Child Health and Endocrinology, Diabetes and Metabolism, having authored 24 papers that have together received 1.8k indexed citations. Recurring topics across this work include Congenital limb and hand anomalies (4 papers), Genomic variations and chromosomal abnormalities (4 papers), Genetics and Neurodevelopmental Disorders (4 papers), Connective tissue disorders research (4 papers), Genomics and Rare Diseases (3 papers), Hypothalamic control of reproductive hormones (3 papers), Dermatological and Skeletal Disorders (1 paper) and Inflammasome and immune disorders (1 paper). The work is most often cited by research in Reproductive Medicine (360 citations), Genetics (560 citations), Developmental Biology (36 citations), Immunology (242 citations) and Pediatrics, Perinatology and Child Health (109 citations). Michèle Mathieu has collaborated with scholars based in France, United Kingdom and Belgium. Frequent co-authors include Christine Petit, Jacqueline Levilliers, Arnaud Murat, Jacques Young, Philippe Bouchard, Alexandre Moerman, Marie-Laure Kottler, Marc Delpech, Corinne Fouveaut and Luís Teixeira. Their work appears in journals such as European Journal of Medical Genetics, Human Mutation, PLoS Genetics, Nature Genetics and Prenatal Diagnosis.

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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