Clémence Vanlerberghe

Author

Centre Hospitalier Universitaire de Lille ORCID

Also Known As

Amel Tsalamlal, C Vanlerberghe, C. Vanlerberghe, Clemence Vanlerberghe, Clémence Vanlerberghe, Florence Petit, J Van-Gils, Jamal Ghoumid, Julie Soblet, Vanlerberghe, Clémence

Publications

603

Citations

H-Index

Concepts

All Affiliations

Centre Hospitalier Universitaire de Lille Université de Lille Hôpital Necker-Enfants Malades Inserm Assistance Publique – Hôpitaux de Paris

About

Clémence Vanlerberghe is an author at Centre Hospitalier Universitaire de Lille specializing in medicine, pathology, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	332
2	Public Health	1	1	24
3	Social Sciences	1	1	31
4	Biostatistics	1	1	24
5	Molecular Genetics	1	1	13

Clémence Vanlerberghe

Publications

485

Citations

H-Index

Page 1

	Year	Citations
15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients Clémence Vanlerberghe, Florence Petit, Valérie Malan, European Journal of Medical Genetics Cardiovascular DiseaseBehaviour IssuesPediatric Heart DiseasePediatricsCongenital Heart Defect	2015	120
Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1 Jamal Ghoumid, Morgane Stichelbout, Anne‐Sophie Jourdain, Genetics in Medicine Blepharocheilodontic SyndromePathologyMolecular MedicineMedicineNeurogenetics	2017	68
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants Clémence Vanlerberghe, Anne‐Sophie Jourdain, Jamal Ghoumid, European Journal of Human Genetics Translational MedicinePathologyTbx5 VariantsMolecular DescriptionHolt-oram Syndrome	2018	60
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications Kate Wolfe, Andrew McQuillin, Viola Alesi, American Journal of Medical Genetics Part B Neuropsychiatric Genetics GeneticsDisease Gene IdentificationGenomicsPsychologySocial Sciences	2018	31
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption Caroline Nava, Benjamin Cogné, A. Santini, Nature Genetics	2025	26
First evidence of <scp> <i>SOX2</i> </scp> mutations in Peters' anomaly: Lessons from molecular screening of 95 patients Bertrand Chesneau, Marion Aubert‐Mucca, Felix Frémont, Clinical Genetics	2022	25
Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations Anne‐Sophie Jourdain, Florence Petit, Marie‐Françoise Odou, Human Mutation GeneticsGenetic EpidemiologyHigh ThroughputPathologyDisease Gene Identification	2019	24
Phenotypic spectrum of <i>TGFB3</i> disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient Luisa Marsili, Eline Overwater, Nadine Hanna, Clinical Genetics	2020	23
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders Thomas Husson, François Lecoquierre, Gaël Nicolas, European Journal of Human Genetics	2023	23
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder Jamal Ghoumid, Florence Petit, Odile Boute‐Bénéjean, European Journal of Human Genetics OphthalmologyNeurological DisorderProgressive Supranuclear PalsyNeurologyMultiple Sclerosis	2017	16

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