Audrey Labalme

4.6k citations

66 papers · 1.2k indexed · h-index 19

Genetics top 5%
Molecular Biology
Cellular and Molecular Neuroscience top 10%
Psychiatry and Mental health top 10%
Pediatrics, Perinatology and Child Health top 10%

Co-authors: Damien Sanlaville Patrick Edery Gaëtan Lesca Marianne Till Caroline Schluth‐Bolard Nadia Boutry‐Kryza Julitta de Bellescize Renaud Touraine
Topics: Genomic variations and chromosomal abnormalities (32 papers)Genetics and Neurodevelopmental Disorders (26 papers)Genomics and Rare Diseases (12 papers)
Cited by: Genetics Psychiatry and Mental health Cellular and Molecular Neuroscience
Journals: Science Proceedings of the National Academy of Sciences PLoS ONE
Partner nations: France United States Tunisia

In The Last Decade

Audrey Labalme

62 papers receiving 1.1k citations

Peers

Countries citing papers authored by Audrey Labalme

Since Specialization

Citations

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

Fields of papers citing papers by Audrey Labalme

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Audrey Labalme

This figure shows the co-authorship network connecting the top 25 collaborators of Audrey Labalme. A scholar is included among the top collaborators of Audrey Labalme 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 Audrey Labalme. Audrey Labalme 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	Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome 2025 ·Clinical Genetics ·(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),Audrey Labalme,(unknown),Go Hun Seo,(unknown),(unknown),Amel Ben Chehida,Damien Sanlaville,(unknown),(unknown),Ichraf Kraoua,Gaëtan Lesca,Nicolas Chatron	0
2	Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing 2023 ·Genes ·(unknown),Delphine Leclerc,Audrey Labalme,Pascale Bellaud,Séverine Mazaud‐Guittot,Stéphane Dréano,Bertrand Evrard,(unknown),(unknown),Philippe Loget,(unknown),(unknown),David Gilot,Marc‐Antoine Belaud‐Rotureau,Sylvie Jaillard	1
3	GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms 2023 ·Epilepsia ·Lotten Ragnarsson,Zihan Zhang,(unknown),(unknown),Åsa Andersson,Vincent des Portes,Cécilia Altuzarra,Ganaëlle Remérand,Audrey Labalme,Nicolas Chatron,Damien Sanlaville,Gaëtan Lesca,Victor Anggono,Irina Vetter,Angelo Keramidas	5
4	GRM7-related disorder: five additional patients from three independent families and review of the literature 2023 ·European Journal of Medical Genetics ·(unknown),Nicolas Chatron,(unknown),(unknown),Audrey Labalme,Yavuz Şahin,Hossein Darvish,Michael C. Kruer,Somayeh Bakhtiari,Damien Sanlaville,(unknown),Gaëtan Lesca	2
5	Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy 2020 ·Pharmacological Research ·Maria Virginia Soldovieri,Elena Freri,Paolo Ambrosino,Ilaria Rivolta,Ilaria Mosca,Anna Binda,(unknown),Francesca Ragona,Laura Canafoglia,(unknown),Roberta Solazzi,Tiziana Granata,Barbara Castellotti,(unknown),Cinzia Gellera,Audrey Labalme,Gaëtan Lesca,Jacopo C. DiFrancesco,Maurizio Taglialatela	13
6	Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report 2020 ·BMC Medical Genetics ·Alice Poisson,Nicolas Chatron,Audrey Labalme,Pierre Fourneret,Dorothée Ville,(unknown),Damien Sanlaville,Caroline Demily,Gaëtan Lesca	10
7	Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS 2020 ·Annals of Neurology ·Laure Mazzola,Karen Oliver,Audrey Labalme,Betül Baykan,Mikko Muona,Tarja Joensuu,Carolina Courage,Nicolas Chatron,Giuseppe Borsani,Eudéline Alix,Francis Ramond,Renaud Touraine,Melanie Bahlo,Nerses Bebek,Samuel F. Berkovic,Anna‐Elina Lehesjoki,Gaëtan Lesca	2
8	Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism 2019 ·Molecular Genetics and Metabolism Reports ·(unknown),Anne‐Lise Poulat,Nicolas Chatron,Audrey Labalme,Caroline Schluth‐Bolard,Marianne Till,Christine Vianey‐Saban,Vincent des Portes,Patrick Edery,Damien Sanlaville,Gaëtan Lesca,Cécile Acquaviva	6
9	Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations 2018 ·Clinical Case Reports ·(unknown),Audrey Labalme,Marianne Till,Gérald Bussy,(unknown),Gaëtan Lesca,Delphine Héron,Damien Sanlaville,Patrick Edery,Vincent des Portes,Massimiliano Rossi	3
10	Statistical method to compare massive parallel sequencing pipelines 2017 ·BMC Bioinformatics ·(unknown),Noémie Leblay,S. Dimassi,Amandine Campan-Fournier,Audrey Labalme,Florence Roucher‐Boulez,Damien Sanlaville,Gaëtan Lesca,Claire Bardel,Pascal Roy	4
11	Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7 2015 ·Cytogenetic and Genome Research ·Camille Louvrier,(unknown),Audrey Labalme,Vincent des Portes,Sophie Gazzo,Evelyne Callet‐Bauchu,Marianne Till,Damien Sanlaville,Patrick Edery,Caroline Schluth‐Bolard	14
12	West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1 2015 ·European Journal of Human Genetics ·Ali Abdullah Alfaiz,Verena Müller,Nadia Boutry‐Kryza,Dorothée Ville,Nicolas Guex,Julitta de Bellescize,(unknown),Audrey Labalme,Vincent des Portes,Patrick Edery,Marianne Till,Ioannis Xénarios,Damien Sanlaville,Johannes M. Herrmann,Gaëtan Lesca,Alexandre Reymond	13
13	A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion 2014 ·American Journal of Medical Genetics Part A ·Linda Pons,(unknown),Audrey Labalme,Marianne Till,Camille Louvrier,Caroline Schluth‐Bolard,Gaëtan Lesca,Patrick Edery,Damien Sanlaville	35
14	Molecular characterization of a cohort of 73 patients with infantile spasms syndrome 2014 ·European Journal of Medical Genetics ·Nadia Boutry‐Kryza,Audrey Labalme,Dorothée Ville,Julitta de Bellescize,Renaud Touraine,Fabienne Prieur,Sarra Dimassi,Anne‐Lise Poulat,Marianne Till,Massimiliano Rossi,Emilie Bourel‐Ponchel,(unknown),Anne‐Gaëlle Le Moing,(unknown),Vincent des Portes,Patrick Edery,Alain Calender,Damien Sanlaville,Gaëtan Lesca	51
15	Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation 2013 ·American Journal of Medical Genetics Part A ·Gaëtan Lesca,Marie‐Pierre Moizard,Gérald Bussy,(unknown),Hao Hu,Stefan A. Haas,Hans‐Hilger Ropers,Vera M. Kalscheuer,Vincent des Portes,Audrey Labalme,Damien Sanlaville,Patrick Edery,Martine Raynaud,James Lespinasse	30
16	Mosaic 18q21.2 deletions including the TCF4 gene: A clinical report 2012 ·American Journal of Medical Genetics Part A ·Massimiliano Rossi,Audrey Labalme,Marie‐Pierre Cordier,Marianne Till,(unknown),R. Dubois,Laurent Guibaud,Sophie Heissat,Étienne Javouhey,Alain Lachaux,Pierre‐Yves Mure,Dorothée Ville,Patrick Edery,Damien Sanlaville	10
17	Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader–Willi like features and hypotonia 2012 ·European Journal of Medical Genetics ·(unknown),(unknown),Audrey Labalme,(unknown),Soumaya Mougou,(unknown),Moez Gribaa,Damien Sanlaville,Hatem Elghezal,Saad Hasan Mohammed Ali	21
18	Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA 2011 ·Science ·Patrick Edery,Charles Marcaillou,Mourad Sahbatou,Audrey Labalme,Joëlle Chastang,Renaud Touraine,Emmanuel Tubacher,(unknown),Michael B. Bober,Sheela Nampoothiri,Pierre‐Simon Jouk,Elisabeth Steichen,Siren Berland,Annick Toutain,Carol A. Wise,Damien Sanlaville,Francis Rousseau,Françoise Clerget‐Darpoux,Anne‐Louise Leutenegger	159
19	17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor 2010 ·American Journal of Medical Genetics Part A ·Caroline Schluth‐Bolard,Damien Sanlaville,Audrey Labalme,Marianne Till,Isabelle Morin,Renaud Touraine,Patrick Edery	29
20	Using Genomic Inbreeding Coefficient Estimates for Homozygosity Mapping of Rare Recessive Traits: Application to Taybi-Linder Syndrome 2006 ·The American Journal of Human Genetics ·Anne‐Louise Leutenegger,Audrey Labalme,Emmanuelle Génin,Annick Toutain,Elisabeth Steichen,Françoise Clerget‐Darpoux,Patrick Edery	35

About Audrey Labalme

Audrey Labalme is a scholar working on Genetics, Clinical Biochemistry and Pediatrics, Perinatology and Child Health, having authored 66 papers that have together received 1.2k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (32 papers), Genetics and Neurodevelopmental Disorders (26 papers) and Genomics and Rare Diseases (12 papers). The work is most often cited by research in Genetics (704 citations), Psychiatry and Mental health (167 citations) and Cellular and Molecular Neuroscience (178 citations). Audrey Labalme has collaborated with scholars based in France, United States and Tunisia. Frequent co-authors include Damien Sanlaville, Patrick Edery, Gaëtan Lesca, Marianne Till, Caroline Schluth‐Bolard, Nadia Boutry‐Kryza, Julitta de Bellescize, Renaud Touraine, Vincent des Portes and Françoise Clerget‐Darpoux. Their work appears in journals such as Science, Proceedings of the National Academy of Sciences and PLoS ONE.

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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