Karine Siquier-Pernet

1.5k citations

24 papers · 628 indexed · h-index 13

Cellular and Molecular Neuroscience
Molecular Biology
- RNA regulation and disease 3
- Viral Infectious Diseases and Gene Expression in Insects 3
- Mitochondrial Function and Pathology 3
- bioluminescence and chemiluminescence research 2
- RNA Interference and Gene Delivery 2
Cognitive Neuroscience
Genetics
- Genetics and Neurodevelopmental Disorders 6
- Genomics and Rare Diseases 4
- Genomic variations and chromosomal abnormalities 2
Cell Biology

Co-authors: Tarik Issad Nicolas Boute Laurence Colleaux Vladimir Zilberfarb Lam Son Nguyen Raphaël Boisgard Bertrand Tavitian Frédéric Dollé
Cited by: Cellular and Molecular Neuroscience Molecular Biology Cognitive Neuroscience
Partner nations: France Algeria Spain

In The Last Decade

Karine Siquier-Pernet

22 papers receiving 621 citations

Peers

Countries citing papers authored by Karine Siquier-Pernet

Since Specialization

Citations

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

Fields of papers citing papers by Karine Siquier-Pernet

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Karine Siquier-Pernet. 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 Karine Siquier-Pernet. The network helps show where Karine Siquier-Pernet may publish in the future.

Co-authorship network

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

All Works

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20 of 20 papers shown

#	Work
1	Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech Clothilde Ormières,Marion Lesieur‐Sebellin,Karine Siquier-Pernet,Geoffroy Delplancq,Marlène Rio,Mélanie Parisot,Patrick Nitschké,Cristina Rodriguez‐Fontenla,Alison Bodineau,Lucie Narcy,Émilie Schlumberger,Vincent Cantagrel,Valérie Malan	2025	0
2	LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy Matis Crespin,Karine Siquier-Pernet,Pauline Marzin,Christine Bôle‐Feysot,Valérie Malan,Patrick Nitschké,Marie Hully,Charles‐Joris Roux,M. Lemoine,Marlène Rio,Nathalie Boddaert,Thomas Courtin,Vincent Cantagrel	2024	0
3	A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia Romain Nicolle,Nami Altin,Karine Siquier-Pernet,Sherlina Salignac,Pierre Blanc,Arnold Münnich,Christine Bôle‐Feysot,Valérie Malan,Barthélémy Caron,Patrick Nitschké,Isabelle Desguerre,Nathalie Boddaert,Marlène Rio,Antonio Rausell,Vincent Cantagrel	2023	1
4	16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing Romain Nicolle,Karine Siquier-Pernet,Marlène Rio,Anne Guimier,Emmanuelle Ollivier,Patrick Nitschké,Christine Bôle‐Feysot,Serge Romana,Alex Hastie,Vincent Cantagrel,Valérie Malan	2022	9
5	Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance Matthieu Egloff,Lam Son Nguyen,Karine Siquier-Pernet,Valérie Cormier‐Daire,Geneviève Baujat,Tania Attié‐Bitach,Christine Bôle‐Feysot,Patrick Nitschké,Michel Vekemans,Laurence Colleaux,Valérie Malan	2018	9
6	AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability Aline Bréchet,Rebecca Buchert,Jochen Schwenk,Sami Boudkkazi,Gerd Zolles,Karine Siquier-Pernet,Irene Schaber,Wolfgang Bildl,Abdelkrim Saadi,Christine Bôle‐Feysot,Patrick Nitschké,André Reis,Heinrich Sticht,Nouriya Al‐Sannaa,Arndt Rolfs,Ákos Kulik,Uwe Schulte,Laurence Colleaux,Rami Abou Jamra,Bernd Fakler	2017	56
7	Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population Hisham Megahed,Michaël Nicouleau,Giulia Barcia,Daniel Medina-Cano,Karine Siquier-Pernet,Christine Bôle‐Feysot,Mélanie Parisot,Cécile Masson,Patrick Nitschké,Marlène Rio,Nadia Bahi‐Buisson,Isabelle Desguerre,Arnold Münnich,Nathalie Boddaert,Laurence Colleaux,Vincent Cantagrel	2016	24
8	Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology Lam Son Nguyen,Marylin Lepleux,M. Makhlouf,Christelle Martin,Julien Fregeac,Karine Siquier-Pernet,Anne Philippe,François Féron,Bruno Gepner,Claire Rougeulle,Yann Humeau,Laurence Colleaux	2016	131
9	A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy Lam Son Nguyen,Taiane Schneider,Marlène Rio,Sébastien Moutton,Karine Siquier-Pernet,Florine Verny,Nathalie Boddaert,Isabelle Desguerre,Arnold Munich,José Luís Rosa,Valérie Cormier‐Daire,Laurence Colleaux	2015	39
10	Multimodal In Vivo Imaging of Tumorigenesis and Response to Chemotherapy in a Transgenic Mouse Model of Mammary Cancer Jean‐Louis Alberini,Raphaël Boisgard,Stéphanie Guillermet,Karine Siquier-Pernet,Benoit Jégo,Benoît Thezé,Saı̈k Urien,Keyvan Rezaï,Emmanuelle Menet,Renaud Maroy,Frédéric Dollé,Bertrand Kühnast,Bertrand Tavitian	2015	5
11	Contiguous mutation syndrome in the era of high‐throughput sequencing Maéva Langouët,Karine Siquier-Pernet,Sylvia Sanquer,Christine Bôle‐Feysot,Patrick Nitschké,Nathalie Boddaert,Arnold Münnich,Grazia M.S. Mancini,Robert Barouki,Jeanne Amiel,Laurence Colleaux	2015	8
12	Microvascular obstruction assessed by 3-tesla magnetic resonance imaging in acute myocardial infarction is correlated with plasma troponin I levels Karine Siquier-Pernet,Fiona Ecarnot,Romain Chopard,Marie‐France Seronde,Philoktimon Plastaras,François Schiele,Nicolas Piriou	2014	7
13	A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency Giulia Barcia,Christine Barnérias,Marlène Rio,Karine Siquier-Pernet,Isabelle Desguerre,Laurence Colleaux,Arnold Münnich,Agnès Rötig,Rima Nabbout	2013	9
14	Genotype specific age related changes in a transgenic rat model of Huntington's disease Ines Blockx,Nadja Van Camp,Marleen Verhoye,Raphaël Boisgard,Albertine Dubois,Benoit Jégo,Elisabeth Jonckers,Kerstin Raber,Karine Siquier-Pernet,Bertrand Kühnast,Frédéric Dollé,Huu Phuc Nguyen,Stephan von Hörsten,Bertrand Tavitian,Annemie Van der Linden	2011	22
15	Molecular Imaging Study on In Vivo Distribution and Pharmacokinetics of Modified Small Interfering RNAs (siRNAs) Thomas Viel,Raphaël Boisgard,Bertrand Kühnast,Benoit Jégo,Karine Siquier-Pernet,Françoise Hinnen,Frédéric Dollé,Bertrand Tavitian	2008	41
16	Looking for an insulin pill? Use the BRET methodology! Tarik Issad,Nicolas Boute,Samira Boubekeur,D. Lacasa,Karine Siquier-Pernet	2003	9
17	The Activity of the Insulin Receptor Assessed by Bioluminescence Resonance Energy Transfer Tarik Issad,Nicolas Boute,Karine Siquier-Pernet	2002	6
18	A homogenous assay to monitor the activity of the insulin receptor using Bioluminescence Resonance Energy Transfer Tarik Issad,Nicolas Boute,Karine Siquier-Pernet	2002	35
19	Effect of dexamethasone on adipocyte differentiation markers and tumour necrosis factor-α expression in human PAZ6 cells Vladimir Zilberfarb,Karine Siquier-Pernet,A. Donny Strosberg,Tarik Issad	2001	45
20	Effect of thiazolidinediones on expression of UCP2 and adipocyte markers in human PAZ6 adipocytes Alexander Strobel,Karine Siquier-Pernet,Vladimir Zilberfarb,A. Donny Strosberg,Tarik Issad	1999	29

About Karine Siquier-Pernet

Karine Siquier-Pernet is a scholar working on Genetics, Cellular and Molecular Neuroscience and Physiology, having authored 24 papers that have together received 628 indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (6 papers), Genomics and Rare Diseases (4 papers), RNA regulation and disease (3 papers), Viral Infectious Diseases and Gene Expression in Insects (3 papers), Mitochondrial Function and Pathology (3 papers), bioluminescence and chemiluminescence research (2 papers), RNA Interference and Gene Delivery (2 papers) and Genomic variations and chromosomal abnormalities (2 papers). The work is most often cited by research in Cellular and Molecular Neuroscience (102 citations), Molecular Biology (362 citations) and Cognitive Neuroscience (98 citations). Karine Siquier-Pernet has collaborated with scholars based in France, Algeria and Spain. Frequent co-authors include Tarik Issad, Nicolas Boute, Laurence Colleaux, Vladimir Zilberfarb, Lam Son Nguyen, Raphaël Boisgard, Bertrand Tavitian, Frédéric Dollé, Claire Rougeulle and A. Donny Strosberg.

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