Elisabeth Flori

4.5k citations

44 papers · 1.9k indexed · h-index 20

Molecular Biology top 10%
Genetics top 2%
Pediatrics, Perinatology and Child Health top 5%
Immunology top 10%
Pulmonary and Respiratory Medicine

Co-authors: Hélène Dollfus Martine Le Merrer Corinne Stoetzel Bérénice Doray Vincent Marion Françoise Girard‐Lemaire Arnold Münnich Valérie Cormier‐Daire
Topics: Prenatal Screening and Diagnostics (13 papers)Genomic variations and chromosomal abnormalities (12 papers)Genetic Syndromes and Imprinting (8 papers)
Cited by: Genetics Pediatrics, Perinatology and Child Health Molecular Biology
Journals: New England Journal of Medicine Proceedings of the National Academy of Sciences Journal of Clinical Investigation
Partner nations: France United Kingdom United States

In The Last Decade

Elisabeth Flori

43 papers receiving 1.9k citations

Peers

Countries citing papers authored by Elisabeth Flori

Since Specialization

Citations

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

Fields of papers citing papers by Elisabeth Flori

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Elisabeth Flori

This figure shows the co-authorship network connecting the top 25 collaborators of Elisabeth Flori. A scholar is included among the top collaborators of Elisabeth Flori based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Elisabeth Flori. Elisabeth Flori is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	MSX2Gene Duplication in a Patient with Eye Development Defects 2014 ·Ophthalmic Genetics ·Julie Plaisancié,Corinne Collet,Valérie Pelletier,(unknown),(unknown),Mélanie Fradin,Élise Schaefer,Claude Speeg‐Schatz,Agnès Bloch‐Zupan,Elisabeth Flori,Hélène Dollfus	7
2	A Novel Mutation in the <b><i>ROGDI</i></b> Gene in a Patient with Kohlschütter-Tönz Syndrome 2014 ·Molecular Syndromology ·(unknown),(unknown),Virginie Laugel-Haushalter,Corinne Stoetzel,Jean Muller,Elisabeth Flori,Vincent Laugel,Marie‐Cécile Manière,Hélène Dollfus,Agnès Bloch‐Zupan	15
3	Long-Term Follow-Up and Molecular Characterization of a Patient with a RECQL4 Mutation Spectrum Disorder 2013 ·Dermatology ·Mélanie Fradin,(unknown),(unknown),Bernard Aral,Jean Muller,Corinne Stoetzel,É. Frouin,Elisabeth Flori,Bérénice Doray,Hélène Dollfus,Dan Lipsker	8
4	Contribution of 3D ultrasound and fetal face studies to the prenatal diagnosis of Pallister-Killian syndrome 2010 ·The Journal of Maternal-Fetal & Neonatal Medicine ·N. Sananès,(unknown),Christophe Vayssière,M. Köhler,Françoise Girard‐Lemaire,Elisabeth Flori,Nadège Calmels,(unknown),(unknown),Bérénice Doray,R. Favre	7
5	Genetic Compensation in a Human Genomic Disorder 2009 ·New England Journal of Medicine ·Nadège Calmels,Pascale Saugier-Véber,Françoise Girard‐Lemaire,Gabrielle Rudolf,Bérénice Doray,Éric Guérin,Pierre Kuhn,Mathilde Arrivé,(unknown),(unknown),(unknown),(unknown),Thierry Frébourg,Elisabeth Flori	35
6	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 2009 ·Fertility and Sterility ·Pascal Philibert,Françoise Audran,Catherine Pienkowski,Isabelle Morange,Birgit Köhler,Elisabeth Flori,(unknown),Catherine Dacou‐Voutetakis,(unknown),A.M. Guedj,Hubert Journel,(unknown),(unknown),Svetlana Ten,Philippe Bouchard,Françoise Paris,Charles Sultan	27
7	Three New BLM Gene Mutations Associated with Bloom Syndrome 2008 ·Genetic Testing ·Mounira Amor-Guéret,(unknown),Anthony Laugé,Rosine Onclercq-Delic,Abdelhamid Barakat,(unknown),Ahmed Aziz Bousfiha,(unknown),Elisabeth Flori,Bérénice Doray,Vincent Laugel,Maria Teresa Cruz Lourenço,Rui Gonçalves,Sílvia Ferreira de Sousa,Jérôme Couturier,Dominique Stoppa‐Lyonnet	11
8	Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: A cytogenetic pitfall 2008 ·European Journal of Medical Genetics ·Nadège Calmels,Françoise Girard‐Lemaire,Éric Guérin,Éric Bieth,Gabrielle Rudolf,Valérie Biancalana,(unknown),(unknown),Thierry Schneider,Anne de Saint Martin,Olivier Caron,M Legrain,(unknown),Elisabeth Flori	3
9	Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy 2004 ·Human Molecular Genetics ·Claire Navarro,Annachiara De Sandre‐Giovannoli,Rafaëlle Bernard,Irène Boccaccio,Amandine Boyer,David Geneviève,S. Hadj‐Rabia,Caroline Gaudy‐Marqueste,(unknown),P. Vabres,Laurence Bonhomme‐Faivre,Alain Verloès,Ton van Essen,Elisabeth Flori,Raoul C. M. Hennekam,Frits A. Beemer,Nicole Laurent,Martine Le Merrer,Pierre Cau,Nicolas Lévy	266
10	Circulating cell-free fetal DNA in maternal serum appears to originate from cyto- and syncytio-trophoblastic cells. Case report 2004 ·Human Reproduction ·Elisabeth Flori	135
11	Severe combined immunodeficiency caused by deficiency in either the δ or the ε subunit of CD3 2004 ·Journal of Clinical Investigation ·Geneviève de Saint Basile,Frédéric Geissmann,Elisabeth Flori,B. Uring‐Lambert,Claire Soudais,Marina Cavazzana,Anne Durandy,Nada Jabado,Alain Fischer,Françoise Le Deist	106
12	Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader–Willi and Angelman syndromes 2003 ·European Journal of Human Genetics ·Elisabeth Flori,Valérie Biancalana,Françoise Girard‐Lemaire,R. Favre,(unknown),Bérénice Doray,Jean‐Louis Mandel	16
13	Gastrointestinal stromal tumor in an XYY/XY male 2002 ·Cancer Genetics and Cytogenetics ·Jean‐Marc Limacher,Françoise Girard‐Lemaire,Éric Jeandidier,Marie-Pierre Chenard-Neu,(unknown),Elisabeth Flori,Jean‐Pierre Bergerat	4
14	Pallister‐Killian syndrome: difficulties of prenatal diagnosis 2002 ·Prenatal Diagnosis ·Bérénice Doray,Françoise Girard‐Lemaire,Bernard Gasser,Jean‐Jacques Baldauf,B. De Geeter,(unknown),(unknown),Elisabeth Flori	53
15	Prenatal sonographic diagnosis of the 49,XXXXY syndrome 2002 ·Prenatal Diagnosis ·C Schluth,Bérénice Doray,Françoise Girard‐Lemaire,M. Köhler,B. Langer,Bernard Gasser,Véronique Lindner,Elisabeth Flori	12
16	Frequent Occurrence of the CFTRIntron 8 (TG)n 5T Allele in Men withCongenital Bilateral Absence of the Vas Deferens 1995 ·European Journal of Human Genetics ·Bruno Costes,E. Girodon,N. Ghanem,Elisabeth Flori,A Jardin,Jean-Claude Soufir,M. Goossens	115
17	A new case of “complete” trisomy 5p with isochromosome 5p associated with a de novo translocation t(5;8)(q11;p23) 1994 ·Clinical Genetics ·Mamoru Fujita,Elisabeth Flori,(unknown),(unknown),Didier Astruc	13
18	Supernumerary chromosomes and spermatogenesis in a human male carrier 1994 ·Human Genetics ·(unknown),O. Gabriel-Robez,(unknown),Elisabeth Flori,Y. Rumpler	15
19	Mosaic 46,XY/92,XXYY,de1(5)(q13 q34) in an adult lymphoblastic leukemia 1991 ·Leukemia Research ·(unknown),(unknown),Elisabeth Flori,(unknown),J V Ruch,F Oberling	4
20	[A new family with mutation of the structural gene of human ornithine carbamoyltransferase]. 1978 ·Munich Personal RePEc Archive (Ludwig Maximilian University of Munich) ·(unknown),(unknown),J C Dreyfus,Elisabeth Flori,P Lutz,(unknown)	2

About Elisabeth Flori

Elisabeth Flori is a scholar working on Genetics, Pediatrics, Perinatology and Child Health and Rheumatology, having authored 44 papers that have together received 1.9k indexed citations. Recurring topics across this work include Prenatal Screening and Diagnostics (13 papers), Genomic variations and chromosomal abnormalities (12 papers) and Genetic Syndromes and Imprinting (8 papers). The work is most often cited by research in Genetics (920 citations), Pediatrics, Perinatology and Child Health (344 citations) and Molecular Biology (1.0k citations). Elisabeth Flori has collaborated with scholars based in France, United Kingdom and United States. Frequent co-authors include Hélène Dollfus, Martine Le Merrer, Corinne Stoetzel, Bérénice Doray, Vincent Marion, Françoise Girard‐Lemaire, Arnold Münnich, Valérie Cormier‐Daire, Nathalie Dagoneau and Claire Soudais. Their work appears in journals such as New England Journal of Medicine, Proceedings of the National Academy of Sciences and Journal of Clinical Investigation.

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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