Concepedia

Author

Anne Sophie Lebre

Inserm

Also Known As

A Lebre, A.-S. Lebre, A.S. Lebre, Anne S Lebre, Anne Sophie Lebre

13

Publications

631

Citations

8

H-Index

22

Concepts

All Affiliations

InsermAssistance Publique – Hôpitaux de ParisCentre National de la Recherche ScientifiqueUniversité Paris CitéCentre Hospitalier Le Vinatier
AS

About

Anne Sophie Lebre is an author at Inserm specializing in medicine, pediatrics, and mitochondrial medicine.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

2

2

86

2

Natural Sciences

1

1

54

3

Molecular Biology

1

1

54

4

Neurology

1

1

32

5

Pathology

1

1

32

Anne Sophie Lebre

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6

Publications

559

Citations

6

H-Index

YearCitations

Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families

Alexandra Dürr, Olivier Didierjean, G. Imbert,

Human Molecular Genetics

1997

256

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Sylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre,

Journal of Medical Genetics

2013

189

eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data

David Goudenège, Céline Bris, Virginie Hoffmann,

Genetics in Medicine

2018

54

Two new cases with Pearson syndrome and review of Hacettepe experience.

Rezan Topaloğlu, Anne Sophie Lebre, Erkan Demirkaya,

PubMed

2009

32

Stuve–Wiedemann syndrome: Is it underrecognized?

Gözde Yeşil, Anne Sophie Lebre, Sofia Dos Santos,

American Journal of Medical Genetics Part A

2014

17

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq,

European Journal of Medical Genetics

2020

11

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