Lydie Bürglen

Hôpital Necker-Enfants Malades FR

0000-0002-1119-6809

197

Publications

13,648

Citations

H-Index

116

i10-Index

4.4

2yr Mean Cite

Cite/Paper

Data combined from OpenAlex + Semantic Scholar. OA = OpenAlex S2 = Semantic Scholar

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Publication & Citation Trends

Publications

0 total

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

E. Cottereau, Isabelle Mortemousque, M. Moizard, L. Bürglen, D. Lacombe - American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013

Cited by 94 Semantic Scholar

Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion

P. Saugier-Veber, D. Doummar, M. Barthez, V. Czernecki, N. Drouot - American Journal of Medical Genetics. Part A, 2010

Cited by 17 Semantic Scholar

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome OA

P. Saugier-Veber, C. Bonnet, A. Afenjar, V. Drouin‐Garraud, C. Coubes - Human Mutation, 2007

Cited by 67 Semantic Scholar

Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P).

C. Houdayer, C. Bonaïti‐pellié, Caroline Erguy, V. Soupre, Marie-Gabrielle Dondon - American journal of medical genetics, 2001

Cited by 29 Semantic Scholar

Cytopathies Mitochondriales: A Propos De Quatre Cas

C. Fassler, M. Penniello, M. Read, F. Chapon, B. Guillois - Unknown Venue, 1999

Cited by 0 Semantic Scholar

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. OA

L. Bürglen, Jeanne Amiel, L. Viollet, S. Lefebvre, P. Burlet - Journal of Clinical Investigation, 1996

Cited by 93 Semantic Scholar

Structure and organization of the human survival motor neurone (SMN) gene.

L. Bürglen, S. Lefebvre, O. Clermont, P. Burlet, L. Viollet - Genomics, 1996

Cited by 256 Semantic Scholar

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

E. Bussaglia, O. Clermont, E. Tizzano, S. Lefebvre, L. Bürglen - Nature Genetics, 1995

Cited by 227 Semantic Scholar

[Identification of the gene determining spinal muscular atrophy: perspectives].

L. Bürglen, J. Frézal, A. Munnich, J. Melki - Archives de pédiatrie, 1995

Cited by 2 Semantic Scholar

Research Topics

Genetics and Neurodevelopmental Disorders (48) Genomics and Rare Diseases (34) RNA modifications and cancer (29) Fetal and Pediatric Neurological Disorders (26) Neurogenetic and Muscular Disorders Research (22)

Affiliations

Délégation Paris 5

FR 2022 - 2022

Hôpital Necker-Enfants Malades

FR 2026 - 2000

Centre National de la Recherche Scientifique

FR 2025 - 2015

Inserm

FR 2025 - 1994

Délégation Paris 7

FR 2019 - 2017

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Lydie Bürglen

Publication & Citation Trends

Publications

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome OA

Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P).

Cytopathies Mitochondriales: A Propos De Quatre Cas

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. OA

Structure and organization of the human survival motor neurone (SMN) gene.

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

[Identification of the gene determining spinal muscular atrophy: perspectives].

Research Topics

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