Alice Masurel‐Paulet

Author

Also Known As

A Masurel-Paulet, A Masurel‐Paulet, A. Masurel-Paulet, A. Masurel‐Paulet, Alice Masurel-Paulet, Alice Masurel‐Paulet, Anne-Laure Mosca-Boidron, P D'athis

Publications

3.7K

Citations

H-Index

Concepts

All Affiliations

Hôpital d'Enfants CHU Dijon Bourgogne Université de Bourgogne Inserm Assistance Publique – Hôpitaux de Paris

About

Alice Masurel‐Paulet is an author at Hôpital d'Enfants specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	13	15	1K
2	Public Health	3	3	336
3	Social Sciences	2	2	158
4	Arts	1	1	106
5	Engineering	1	1	15

Alice Masurel‐Paulet

Publications

3.5K

Citations

H-Index

Page 1

	Year	Citations
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson, Nature Genetics	2014	582
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing Claire Redin, Bénédicte Gérard, Julia Lauer, Journal of Medical Genetics	2014	270
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test Julien Thévenon, Yannis Duffourd, Alice Masurel‐Paulet, Clinical Genetics	2016	265
NTBC treatment in tyrosinaemia type I: Long‐term outcome in French patients Alice Masurel‐Paulet, Joséphine Poggi-Bach, M. O. Rolland, Journal of Inherited Metabolic Disease	2008	215
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis Sophie Nambot, Julien Thévenon, Paul Kuentz, Genetics in Medicine Developmental AnomalyRare DiseasesMendelian DisorderGenetic DisorderMedicine	2017	193
Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic <i>FBN1</i> Mutations Laurence Faivre, Alice Masurel‐Paulet, Gwenaëlle Collod‐Béroud, PEDIATRICS GeneticsGenetic EpidemiologyPathologyMolecular GeneticsRelated Type	2008	173
Delineation of 15q13.3 microdeletions Alice Masurel‐Paulet, Joris Andrieux, Patrick Callier, Clinical Genetics PsychiatryScientific Data ManagementCosmologyGeneticsSyndromic Autism	2010	150
Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life Julien Thévenon, Mathieu Milh, François Feillet, The American Journal of Human Genetics First DaysNeurobiology Of DiseaseNeurological DisorderGenetic DisorderGenetics	2014	133
The <i>DYRK1A</i> gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy Jean‐Benoît Courcet, Laurence Faivre, Perrine Malzac, Journal of Medical Genetics	2012	123
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech Julien Thévenon, Patrick Callier, Joris Andrieux, European Journal of Human Genetics Apraxia Of SpeechDevelopmental BiologyGenetic DisorderMedicineGenetics	2012	106

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