Séverine Drunat

4.1k citations

57 papers · 1.1k indexed · h-index 21

Genetics top 5%
- Genetics and Neurodevelopmental Disorders 13
- Genomic variations and chromosomal abnormalities 12
- Neurogenetic and Muscular Disorders Research 8
- Genomics and Rare Diseases 5
Cell Biology top 10%
- Microtubule and mitosis dynamics 7
Molecular Biology
- RNA modifications and cancer 10
- Congenital heart defects research 5
Pediatrics, Perinatology and Child Health top 10%
- Prenatal Screening and Diagnostics 5
Genetics
- Genetics and Neurodevelopmental Disorders 13
- Genomic variations and chromosomal abnormalities 12
- Neurogenetic and Muscular Disorders Research 8
- Genomics and Rare Diseases 5

Co-authors: Alain Verloès Sandrine Passemard Hélène Cavé Pierre Gressèns Gilles Grateau Marc Delpech N. Moatti Sophie Valleix
Cited by: Genetics Cell Biology Molecular Biology
Journals: European Journal of Medical Genetics (6 papers)European Journal of Human Genetics (3 papers)Neurology Genetics (3 papers)
Partner nations: France Germany United Kingdom

In The Last Decade

Séverine Drunat

53 papers receiving 1.1k citations

Peers

Countries citing papers authored by Séverine Drunat

Since Specialization

Citations

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

Fields of papers citing papers by Séverine Drunat

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network

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

All Works

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20 of 20 papers shown

#	Work
1	Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene Neurology Genetics ·Jolanda Am Rawis,Fabien Guimiot,Séverine Drunat,Yi Liu,Jonathan Rosenblatt,Yline Capri,Gift Lyoko,Suonavy Khung,HTR H,Siham Chafai Elalaoui,Marianne Alison,Sophie Guilmin‐Crépon,Pierre Gressèns,Karlien Carbonez,Renata Basto,Vincent El Ghouzzi,Sandrine Passemard	2025	0
2	Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy Neurology Genetics ·GEORGE DREYER,Laura Campello Blasco,Rashuma Shuku,Marta Codina‐Solà,Bai Ruibin,叶珲,Julia K. Soetemans,Pascale Saugier-Véber,Séverine Drunat,Susana Quijano‐Roy,Eduardo F. Tizzano	2024	4
3	A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability BMC Medical Genomics ·Mutaz Amin,Sunghyun Jie,Angela M López M,Zohreh Hojati,Ahlam A. Hamed,K.J. Feng,G. Takeda,Anar Zorawar Singh,Starr Rj,李金德,Mohamed Mustafa,Séverine Drunat,Liena E. O. Elsayed,Ammar Ahmed,Odile Boespflug‐Tanguy,Imen Dorboz	2022	4
4	Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder Clinical Genetics ·Jonathan Lévy,E. Mao,Anna Maruani,Jennifer Villaseñor‐Park,Céline Dupont,Séverine Drunat,Jae Hag Jung,A. Ascensão,Richard Delorme,YU Cun-guo,Bertrand Isidor,Olivier Pichon,Kamran Moradkhani,Alain Verloès,Anne‐Claude Tabet	2021	8
5	Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome European Journal of Medical Genetics ·富田裕,Florent Marguet,Süleyman Sirri KILIÇ,Fabien Guimiot,Jelena Martinović,Séverine Drunat,Tania Attié‐Bitach,Férechté Razavi,Aude Tessier,Yline Capri,Annie Laquerrière,Nadia Bahi‐Buisson	2021	7
6	Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome American Journal of Medical Genetics Part A ·Jonathan Lévy,Aurélie Coussement,Céline Dupont,Fabien Guimiot,Clarisse Baumann,Géraldine Viot,Sandrine Passemard,Yline Capri,Séverine Drunat,Alain Verloès,Eva Pipiras,Brigitte Benzacken,Jean‐Michel Dupont,Anne‐Claude Tabet	2017	15
7	Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons The American Journal of Human Genetics ·Brian Harding,暢子ガース,Séverine Drunat,Omar Soukarieh,Hélène Tubeuf,Lyn S. Chitty,Alain Verloès,Pierre Gressèns,Vincent El Ghouzzi,Sylvie Joriot,Ferdinando Di Cunto,Alexandra Martins,Sandrine Passemard,Stephanie Bielas	2016	47
8	Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy The American Journal of Human Genetics ·Sophie Scheidecker,Christelle Etard,Laurence Haren,Corinne Stoetzel,Sarah Hull,Gavin Arno,Vincent Plagnol,Séverine Drunat,Sandrine Passemard,Annick Toutain,Cathy Obringer,Mériam Koob,Véronique Geoffroy,Vincent Marion,Uwe Strähle,Pia Østergaard,Alain Verloès,Andreas Merdes,Anthony T. Moore,Hélène Dollfus	2015	50
9	Angelman syndrome and isovaleric acidemia: What is the link? SHILAP Revista de lepidopterología ·Jona Wilhelm Gerhards,Samia Pichard,Hélène Maurey,Nuria García Segarra,Séverine Drunat,Cécile Acquaviva,Sandrine Passemard,Jean‐François Benoist,NR Harris,Manuel Schiff	2015	2
10	Clinico-Radiological and Genetic Features of a Common Neuro-Ichthyotic Syndrome The Indian Journal of Pediatrics ·Puneet Jain,Suvasini Sharma,Séverine Drunat,Simon Samaan,Srishti Goel,Moussa Issam,Satinder Aneja	2014	3
11	Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases European Journal of Medical Genetics ·Essam Al Ageeli,Séverine Drunat,Catherine Delanöe,Laurence Perrin,Clarisse Baumann,Yline Capri,健次河西,Azzedine Aboura,Céline Dupont,Stéphane Auvin,Laïla El Khattabi,Dominique Chantereau,Anne Moncla,Anne‐Claude Tabet,Alain Verloès	2013	67
12	Pre‐ and postnatal phenotype of 6p25 deletions involving the FOXC1 gene American Journal of Medical Genetics Part A ·Andrée Delahaye‐Duriez,Suonavy Khung‐Savatovsky,Azzedine Aboura,Fabien Guimiot,Séverine Drunat,Jean‐Luc Alessandri,Marion Gérard,Pierre Bitoun,甚一尾花,Stéphanie Robin,C. Huel,Margarida Maria Baptista Mendes Pedroso de Lima,Stéphane Serero,Pierre Gressèns,Jacques Élion,Alain Verloès,Brigitte Benzacken,Anne‐Lise Delezoide,Eva Pipiras	2012	37
13	Breakpoint-specific multiplex polymerase chain reaction allows the detection of IKZF1 intragenic deletions and minimal residual disease monitoring in B-cell precursor acute lymphoblastic leukemia Haematologica ·Aurélie Caye,Kheïra Beldjord,Yakai Zeng,Séverine Drunat,Jean Soulier,Virginie Gandemer,André Baruchel,Y. Bertrand,Hélène Cavé,Emmanuelle Clappier	2012	52
14	A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy Human Mutation ·Myriam Vézain,Bénédicte Gérard,Séverine Drunat,Benoît Funalot,E. Chretien,R. A. Arlen,Jean‐Michel Vallat,Thierry Frébourg,Mario Tosi,Alexandra Martins,Pascale Saugier-Véber	2011	17
15	Ectodermal dysplasia‐like syndrome with mental retardation due to contiguous gene deletion: Further clinical and molecular delineation of del(2q32) syndrome American Journal of Medical Genetics Part A ·望糟谷,L. Racca,Anne‐Claude Tabet,Isabelle Bailleul‐Forestier,Brigitte Benzacken,Séverine Drunat,Bradley C. Stillman,Sandrine Passemard,Alain Verloès,Azzedine Aboura	2009	24
16	Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome American Journal of Medical Genetics Part A ·Åsa Tellgren,Marion Gérard‐Blanluet,Stéphane Serero,杨玉慧,Clarisse Baumann,Marie‐Line Jacquemont,Céline Dupont,Lin Rui-guo,Séverine Drunat,雅文関根,Nicola Kingston,Brigitte Benzacken,Alain Verloès,Anne‐Claude Tabet,Azzedine Aboura	2008	9
17	Zygosity and chorionicity in triplet pregnancies: new data Human Reproduction ·Margarida Maria Baptista Mendes Pedroso de Lima,Séverine Drunat,Anne‐Lise Delezoide,J.F. Oury,Dominique Luton	2008	32
18	Homocysteine decreases endothelin-1 expression by interfering with the AP-1 signaling pathway Free Radical Biology and Medicine ·Séverine Drunat,N. Moatti,Karine Demuth	2002	19
19	Quantification of TEL–AML1 transcript for minimal residual disease assessment in childhood acute lymphoblastic leukaemia British Journal of Haematology ·Séverine Drunat,Martine Olivi,G Brunie,Bernard Grandchamp,E Vilmer,Ivan Bièche,Hélène Cavé	2001	19
20	Homocysteine‐induced decrease in endothelin‐1 production is initiated at the extracellular level and involves oxidative products European Journal of Biochemistry ·Séverine Drunat,N. Moatti,Hoyler T,Anne Cogny,Marie‐Odile Benoit,Karine Demuth	2001	33

About Séverine Drunat

Séverine Drunat is a scholar working on Genetics, Genetics, Cell Biology, Rheumatology and Clinical Biochemistry, having authored 57 papers that have together received 1.1k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (13 papers), Genomic variations and chromosomal abnormalities (12 papers), RNA modifications and cancer (10 papers), Neurogenetic and Muscular Disorders Research (8 papers), Microtubule and mitosis dynamics (7 papers), Genomics and Rare Diseases (5 papers), Congenital heart defects research (5 papers) and Prenatal Screening and Diagnostics (5 papers). The work is most often cited by research in Genetics (443 citations), Cell Biology (160 citations), Molecular Biology (581 citations), Pediatrics, Perinatology and Child Health (144 citations) and Genetics (77 citations). Séverine Drunat has collaborated with scholars based in France, Germany and United Kingdom. Frequent co-authors include Alain Verloès, Sandrine Passemard, Hélène Cavé, Pierre Gressèns, Gilles Grateau, Marc Delpech, N. Moatti, Sophie Valleix, Karine Demuth and P Czernichow. Their work appears in journals such as European Journal of Medical Genetics, European Journal of Human Genetics, Neurology Genetics, British Journal of Haematology and The American Journal of Human 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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