Elise Brischoux‐Boucher

Author

Also Known As

Brischoux-Boucher, E., Brischoux-Boucher, Elise, Céline Bris, E. Brischoux-Boucher, E. Brischoux‐Boucher, Elise Boucher-Brischoux, Elise Boucher‐Brischoux, Elise Brischoux-Boucher, Elise Brischoux‐Boucher

Publications

833

Citations

H-Index

Concepts

All Affiliations

Inserm Université de franche-comté Assistance Publique – Hôpitaux de Paris Hôpital Necker-Enfants Malades

About

Elise Brischoux‐Boucher is an author at Inserm specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	224
2	Public Health	4	4	84
3	Allergy	2	2	74
4	Biostatistics	2	2	44
5	Social Sciences	1	1	30

Elise Brischoux‐Boucher

Publications

654

Citations

H-Index

Page 1

	Year	Citations
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine Abdelkader Heddar, Sabrina Corrêa da Costa, Inès Braham, EBioMedicine	2022	83
<scp><i>GREB1L</i></scp> variants in familial and sporadic hereditary urogenital adysplasia and <scp>Mayer‐Rokitansky‐Kuster‐Hauser</scp> syndrome Adeline Jacquinet, Bouchra Boujemla, Corinne Fasquelle, Clinical Genetics	2020	71
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals Henri Margot, Guilaine Boursier, Claire Duflos, Genetics in Medicine Primary ImmunodeficiencyRheumatologyRegistry StudyAllergyAutoimmune Disease	2019	57
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 Víctor Faúndes, Stephanie Goh, Rhoda Akilapa, Genetics in Medicine	2021	57
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature Richard H. van Jaarsveld, Jack Reilly, Marie-Claire Cornips, Genetics in Medicine	2022	35
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, The American Journal of Human Genetics	2022	34
<i>IL11RA‐</i>related Crouzon‐like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences Elise Brischoux‐Boucher, Aurélien Trimouille, Geneviève Baujat, Clinical Genetics	2018	32
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor Jeroen Breckpot, Marieke Vercruyssen, Eddy Weyts, European Journal of Medical Genetics Sleep DisordersSleepNeuropsychologySleep DisorderPsychiatry	2016	30
Increasing knowledge in <i>IGF1R</i> defects: lessons from 35 new patients Éloïse Giabicani, Marjolaine Willems, Virginie Steunou, Journal of Medical Genetics	2019	27
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

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