Julie Steffann

561 total citations
22 papers, 142 citations indexed

About

Julie Steffann is a scholar working on Molecular Biology, Clinical Biochemistry and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, Julie Steffann has authored 22 papers receiving a total of 142 indexed citations (citations by other indexed papers that have themselves been cited), including 14 papers in Molecular Biology, 8 papers in Clinical Biochemistry and 4 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in Julie Steffann's work include Mitochondrial Function and Pathology (11 papers), Metabolism and Genetic Disorders (8 papers) and Prenatal Screening and Diagnostics (4 papers). Julie Steffann is often cited by papers focused on Mitochondrial Function and Pathology (11 papers), Metabolism and Genetic Disorders (8 papers) and Prenatal Screening and Diagnostics (4 papers). Julie Steffann collaborates with scholars based in France, Austria and United Kingdom. Julie Steffann's co-authors include Arnold Münnich, Jean‐Paul Bonnefont, Robert McFarland, Nadine Gigarel, Joanna Poulton, Joerg P. Burgstaller, Sylvain Hanein, Josseline Kaplan, Jean‐Michel Rozet and Agnès Rötig and has published in prestigious journals such as Human Reproduction, British Journal of Dermatology and BJOG An International Journal of Obstetrics & Gynaecology.

In The Last Decade

Julie Steffann

20 papers receiving 140 citations

Peers

Countries citing papers authored by Julie Steffann

Since Specialization

Citations

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

Fields of papers citing papers by Julie Steffann

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Julie Steffann

This figure shows the co-authorship network connecting the top 25 collaborators of Julie Steffann. A scholar is included among the top collaborators of Julie Steffann 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 Julie Steffann. Julie Steffann 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	Profiling mitochondrial DNA variant segregation during human preimplantation development: a prerequisite to preimplantation genetic testing for mitochondrial DNA-related disorders 2025 ·Human Reproduction ·(unknown), Anne Mayeur, (unknown), Nadine Gigarel, Sophie Monnot, Agnès Rötig, Arnold Münnich, Nelly Frydman, Julie Steffann	0
2	Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene 2024 ·American Journal of Medical Genetics Part A ·Julie Steffann, (unknown), (unknown), S. Hadj‐Rabia, Fabienne Charbit‐Henrion, Florence Petit	1
3	Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy 2023 ·Life ·(unknown), Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline, Giulia Barcia, Pascale de Lonlay, Julie Steffann, Arnold Münnich, Jean‐Paul Bonnefont, Agnès Rötig, Benedetta Ruzzenente, Metodi D. Metodiev	4
4	Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options 2023 ·Journal of Clinical Immunology ·(unknown), Dominique Cazals‐Hatem, Mathieu Uzzan, Nicolas Martin Silva, (unknown), (unknown), Ludovic Lhermitte, Aurore Touzart, Sylvain Hanein, (unknown), Francisca Joly, (unknown), Julie Steffann, Nadine Cerf–Bensussan, Marianna Parlato, Fabienne Charbit‐Henrion	7
5	A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases 2023 ·Human Reproduction ·(unknown), Anne Mayeur, Nicolas Cagnard, Mohammed Zarhrate, Christine Bole, Patrick Nitschké, Fabienne Jabot‐Hanin, Agnès Rötig, Sophie Monnot, Arnold Münnich, Nelly Frydman, Julie Steffann	3
6	Preimplantation genetic testing for mitochondrial DNA mutation: ovarian response to stimulation, outcomes and follow-up 2023 ·Reproductive BioMedicine Online ·Anne Mayeur, (unknown), (unknown), (unknown), Laëtitia Hesters, (unknown), Sophie Monnot, Michaël Grynberg, Julie Steffann, Nelly Frydman, Charlotte Sonigo	2
7	Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype 2022 ·Genes ·L. Fertitta, Fabienne Charbit‐Henrion, Stéphanie Leclerc‐Mercier, Thao Nguyen‐Khoa, (unknown), Caroline Alby, Julie Steffann, Isabelle Sermet‐Gaudelus, S. Hadj‐Rabia	2
8	Mitochondrial DNA mutations do not impact early human embryonic development 2021 ·Mitochondrion ·(unknown), Anne Mayeur, Nadine Gigarel, Fabienne Jabot‐Hanin, Laëtitia Hesters, Arnold Münnich, Nelly Frydman, Jean‐Paul Bonnefont, Julie Steffann	7
9	Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival 2020 ·European Journal of Human Genetics ·Giulia Barcia, Marlène Rio, Zahra Assouline, (unknown), Charles‐Joris Roux, Pascale de Lonlay, Julie Steffann, Isabelle Desguerre, Arnold Münnich, Jean‐Paul Bonnefont, Nathalie Boddaert, Agnès Rötig, Metodi D. Metodiev, Benedetta Ruzzenente	8
10	Intrafamilial Variability in <b><i>LPIN1</i></b>-Related Rhabdomyolysis 2020 ·Molecular Syndromology ·Linda Pons, Cécile Acquaviva, (unknown), (unknown), (unknown), Julie Steffann, Stéphanie Gobin, Pascale de Lonlay, Nathalie Guffon, Alain Fouilhoux	1
11	A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders 2020 ·Genetics in Medicine ·Julie Steffann, Sophie Monnot, (unknown), Zahra Assouline, Nadine Gigarel, Y. Ville, Laurent Salomon, (unknown), Jelena Martinović, Agnès Rötig, (unknown), (unknown), Arnold Münnich, Giulia Barcia, Jean‐Paul Bonnefont	9
12	The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations* 2020 ·British Journal of Dermatology ·N. Bellon, S. Hadj‐Rabia, Florence Moulin, Cécile Lambe, Guillaume Lezmi, Fabienne Charbit‐Henrion, Caroline Alby, (unknown), Stéphanie Leclerc‐Mercier, Alice Hadchouel, Julie Steffann, Alain Hovnanian, Alexandre Lapillonne, Christine Bodemer	13
13	243rd ENMC international workshop: Developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease, Amsterdam, the Netherlands, 22–24 March 2019 2019 ·Neuromuscular Disorders ·Joanna Poulton, Julie Steffann, Joerg P. Burgstaller, Robert McFarland	19
14	Pre and post-natal achondroplasia, retrospective series of 64 consecutives cases with analyze of the diagnostic methods and timing issues 2019 ·Bone Abstracts ·Geneviève Baujat, (unknown), Pascale Sonigo, Séverine Bacrot, (unknown), Caroline Michot, A. Millischer, (unknown), (unknown), Tania Attié‐Bitach, Bettina Bessières, Laurent Salomon, Y. Ville, Jean‐Paul Bonnefont, Julie Steffann, Valérie Cormier‐Daire	1
15	Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre 2018 ·BJOG An International Journal of Obstetrics & Gynaecology ·M. Kuleva, (unknown), Julie Steffann, Jean‐Paul Bonnefont, Sophie Rondeau, Y. Ville, Arnold Münnich, L. J. Salomon	10
16	Pitfalls in molecular diagnosis of Friedreich ataxia 2018 ·European Journal of Medical Genetics ·Giulia Barcia, (unknown), (unknown), Zahra Assouline, Michel Kœnig, Benoît Funalot, Christine Barnérias, Agnès Rötig, Arnold Münnich, Jean‐Paul Bonnefont, Julie Steffann	9
17	Faisabilité et incertitude du diagnostic préimplantatoire appliqué aux mutations de l'ADN mitochondrial 2018 ·Revue Francophone des Laboratoires ·Sophie Monnot, Nadine Gigarel, Arnold Münnich, Marlène Rio, Nelly Frydman, Laëtitia Hesters, Jean‐Paul Bonnefont, Julie Steffann	0
18	Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders 2017 ·Journal of Medical Genetics ·(unknown), (unknown), G. E. Chalouhi, Caroline Elie, Marlène Rio, Sophie Rondeau, Nadine Gigarel, Fabienne Jabot‐Hanin, Sophie Monnot, (unknown), (unknown), Y. Ville, Agnès Rötig, Arnold Münnich, Jean‐Paul Bonnefont, Julie Steffann	10
19	O▪26 Preimplantation diagnosis of the NARP mitochondrial DNA mutation 2005 ·Reproductive BioMedicine Online ·Julie Steffann, Nadine Gigarel, Nelly Frydman, P Burlet, Jean‐Paul Bonnefont, (unknown), Violaine Kerbrat, Gérard Tachdjian, (unknown), Arnold Münnich	1
20	NDP gene mutations in 14 French families with Norrie disease 2003 ·Human Mutation ·(unknown), Sylvain Hanein, (unknown), Nadine Gigarel, Jean‐Michel Rozet, Arnold Münnich, Julie Steffann, Jean‐Louis Dufier, Josseline Kaplan, Jean‐Paul Bonnefont	29

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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