Brigitte Simon‐Bouy

2.8k citations

58 papers · 1.3k indexed · h-index 21

Impact in

Endocrinology, Diabetes and Metabolism top 2%
- Alkaline Phosphatase Research Studies
Rheumatology top 2%
- Heterotopic Ossification and Related Conditions

Papers in

Endocrinology, Diabetes and Metabolism 13
- Alkaline Phosphatase Research Studies 12
Rheumatology 11
- Heterotopic Ossification and Related Conditions 9

Co-authors: Étienne Mornet A. Taillandier Françoise Müller J.L. Serre Delphine Fauvert A Boué Jean‐Louis Serre J Boué
Journals: Human Genetics (11 papers)Prenatal Diagnosis (7 papers)Clinical Genetics (5 papers)European Journal of Human Genetics (4 papers)Human Mutation (4 papers)
Partner nations: France United States Germany

In The Last Decade

Brigitte Simon‐Bouy

57 papers receiving 1.3k citations

Peers

Countries citing papers authored by Brigitte Simon‐Bouy

Since Specialization

Citations

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

Fields of papers citing papers by Brigitte Simon‐Bouy

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Brigitte Simon‐Bouy. 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 Brigitte Simon‐Bouy. The network helps show where Brigitte Simon‐Bouy may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Brigitte Simon‐Bouy, 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 Brigitte Simon‐Bouy Line = papers co-authored together Brigitte Simon‐Bouy links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	A Molecular‐Based Estimation of the Prevalence of Hypophosphatasia in the European Population Annals of Human Genetics ·Étienne Mornet, Wei Chen, A. Taillandier, Delphine Fauvert, Brigitte Simon‐Bouy	2011	164
2	A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein Human Genetics ·Anne-Sophie Lia-Baldini, Isabelle Brun‐Heath, Claire Carrion, Brigitte Simon‐Bouy, J.L. Serre, Mark E. Nuñes, Étienne Mornet	2008	38
3	Characterization of Missense Mutations and Large Deletions in the ALPL Gene by Sequencing and Quantitative Multiplex PCR of Short Fragments Genetic Testing ·Marc Spentchian, Isabelle Brun‐Heath, A. Taillandier, Delphine Fauvert, Jean‐Louis Serre, Brigitte Simon‐Bouy, Filipa Carvalho, Ibrahim Mustafa, Sarju Mehta, Grit Müller, Saskia A.J. Lesnik Oberstein, Gönül Oğur, Saba Sharif, Étienne Mornet	2006	20
4	Sperm chromosome analysis in two cases of paracentric inversion Fertility and Sterility ·François Vialard, М А Барашев, Patrice Clément, Brigitte Simon‐Bouy, F. X. Aubriot, J. Selva	2006	33
5	Mid-trimester hyperechogenic bowel in a fetus of Japanese origin carrying a new mutation of CFTR gene (L548Q) Prenatal Diagnosis ·M. Yamamoto, Denise Molina‐Gomes, 繁宮本, T. F. Bala, Brigitte Leroy, Brigitte Simon‐Bouy, J. Selva, Y. Ville	2005	3
6	Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases Annales de Génétique ·Sandra Chantot‐Bastaraud, M. D. DeRue, Eva Pipiras, Tinega Nyamoko Joseph, Anne Roubergue, Lydie Bürglen, Jean Pierre Siffroi, Brigitte Simon‐Bouy	2004	8
7	Possible human chimera detected prenatally after in vitro fertilization: a case report Prenatal Diagnosis ·Brigitte Simon‐Bouy, M Plachot, Ali H. Mokdad, Alan Goluban, Christine Muti, Anne Bazin, François Vialard, Suboor Ahmad	2003	10
8	Hyperechogenic fetal bowel: A large French collaborative study of 682 cases American Journal of Medical Genetics Part A ·Brigitte Simon‐Bouy, Véronique Satre, Claude Férec, Marie‐Claire Malinge, Emmanuelle Girodon, Érick Denamur, Nathalie Leporrier, Peter A. Lewin, F Forestier, Françoise Müller, (unknown)	2003	41
9	Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different American Journal of Medical Genetics Part A ·Géraldine Viot, Pascale Sonigo, Isabelle Simon, Brigitte Simon‐Bouy, Vanja Kosanić, Chérif Beldjord, Julia Tantau, Jelena Martinović, Chantal Esculpavit, Françis Brunelle, Arnold Münnich, Michel Vekemans, Férechté Encha‐Razavi	2003	23
10	Hyperechogenic fetal bowel and Down syndrome. Results of a French collaborative study based on 680 prospective cases Prenatal Diagnosis ·Brigitte Simon‐Bouy, Françoise Müller, (unknown)	2002	14
11	Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1) Prenatal Diagnosis ·Aurore Coulomb L’Herminé, Mochammad Syamsuddin, Brigitte Simon‐Bouy, 及川輝樹, François Audibert, C.J. Carter, F. Capron, R. Frydman, Gérard Tachdjian	2002	5
12	Association Between Genetically Determined Pancreatic Status and Lung Disease in Adult Cystic Fibrosis Patients CHEST Journal ·Yann Loubières, Dominique Grenet, Brigitte Simon‐Bouy, Jacques Médioni, Paul Landais, Claude Férec, M. Stern	2002	20
13	A molecular approach to dominance in hypophosphatasia Human Genetics ·Anne-Sophie Lia-Baldini, Françoise Müller, A. Taillandier, Ruth Nussionv, Penglei Wan, Blaise Robin, Brigitte Simon‐Bouy, Markus Kettritz, А. В. Янушкевич, Éric Bieth, Hui-xin He, C. Alami, Jingjing Hu, H P Krohn, Mark E. Nuñes, T. Xiang	2001	88
14	Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects Human Genetics ·Séverine Vandeville, Soumaya Grira, K. Akhila, Anne‐Lise Delezoide, Jean-Yves Col, Brigitte Simon‐Bouy, Jean‐Louis Serre	1997	76
15	Parental origin and mechanisms of formation of three eases of 12p tetrasomy Clinical Genetics ·C Turleau, Brigitte Simon‐Bouy, Xi Hai Shen, F. Acerenza, Benefield Ml, Denise Molina‐Gomes, Jean‐Pierre Siffroi, Joëlle Boué	1996	20
16	Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency Human Mutation ·E.V. Mishanova, Glenn Johnson, M C Raux-Demay, 최용혁, Joëlle Boué, Brigitte Simon‐Bouy, Ray Argha, A Boué, Étienne Mornet	1995	62
17	Transition from Normal toPremutated Alleles inFragile X Syndrome Resultsfrom a Multistep Process European Journal of Human Genetics ·Arthy Sri B, Glenn Johnson, Vesna Vujačić, Mladen Jokić, Р. Бахтавар, A. Taillandier, Fran Thomas, Brigitte Simon‐Bouy, J Boué, J.L. Serre, (unknown), (unknown)	1994	8
18	General Cystic Fibrosis Mutations Are Usually Missense Mutations Affecting Two Specific Protein Domains and Associated with a Specific RFLP Marker Haplotype European Journal of Human Genetics ·J.L. Serre, T. Xiang, Brigitte Simon‐Bouy, J Boué, A Boué	1993	2
19	Molecular analysis of a ring chromosome X in a family with fragile X syndrome Human Genetics ·Étienne Mornet, Glenn Johnson, Vesna Vujačić, Brigitte Simon‐Bouy, Michèle Mathieu, 仁大加藤, 信西海, Éric Leguern, Joëlle Boué, A Boué	1993	4
20	Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients Clinical Genetics ·Brigitte Simon‐Bouy, Étienne Mornet, J.L. Serre, A. Taillandier, J Boué, A Boué	1991	7

About Brigitte Simon‐Bouy

Brigitte Simon‐Bouy is a scholar working on Endocrinology, Diabetes and Metabolism, Rheumatology, Pediatrics, Perinatology and Child Health, Pulmonary and Respiratory Medicine and Genetics, having authored 58 papers that have together received 1.3k indexed citations. Recurring topics across this work include Cystic Fibrosis Research Advances (21 papers), Prenatal Screening and Diagnostics (12 papers), Alkaline Phosphatase Research Studies (12 papers), Neonatal Respiratory Health Research (11 papers), Heterotopic Ossification and Related Conditions (9 papers), Genetics and Neurodevelopmental Disorders (9 papers), Genomic variations and chromosomal abnormalities (8 papers) and Selenium in Biological Systems (7 papers). The work is most often cited by research in Endocrinology, Diabetes and Metabolism (581 citations), Rheumatology (464 citations), Orthopedics and Sports Medicine (166 citations), Nutrition and Dietetics (197 citations) and Pediatrics, Perinatology and Child Health (192 citations). Brigitte Simon‐Bouy has collaborated with scholars based in France, United States and Germany. Frequent co-authors include Étienne Mornet, A. Taillandier, Françoise Müller, J.L. Serre, Delphine Fauvert, A Boué, Jean‐Louis Serre, J Boué, Anne-Sophie Lia-Baldini and Joëlle Boué. Their work appears in journals such as Human Genetics, Prenatal Diagnosis, Clinical Genetics, European Journal of Human Genetics and Human Mutation.

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