Clara Serra‐Juhé - Concepedia

Author

Clara Serra‐Juhé

Centre for Biomedical Network Research on Rare Diseases

Also Known As

C Serra-Juhé, C. Serra-Juhe, C. Serra-Juhé, C. Serra‐Juhé, Clara Serra-Juhe, Clara Serra-Juhé, Clara Serra‐Juhe, Clara Serra‐Juhé

Publications

1.5K

Citations

H-Index

Concepts

All Affiliations

Centre for Biomedical Network Research on Rare Diseases Universitat Pompeu Fabra Centro de Investigación Biomédica en Red Instituto de Salud Carlos III Instituto de Investigación de Enfermedades Raras

About

Clara Serra‐Juhé is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, genetic epidemiology, and genetic counseling.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	392
2	Education	2	2	28
3	Nursing	2	2	51
4	Public Health	2	2	53
5	Engineering	1	1	36

Clara Serra‐Juhé

Publications

1.3K

Citations

H-Index

Page 1

	Year	Citations
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome Bregje W.M. van Bon, Heather C. Mefford, Björn Menten, Journal of Medical Genetics	2009	366
Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low <scp>IGF</scp> ‐I availability Andrew Dauber, M.T. Muñoz-Calvo, Vicente Barrios, EMBO Molecular Medicine	2016	208
DNA methylation abnormalities in congenital heart disease Clara Serra‐Juhé, Ivon Cuscó, Aïda Homs, Epigenetics Epigenetic ChangeGeneticsDna MethylationPathologyMolecular Genetics	2015	137
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis Lluı́s Armengol, Julián Nevado, Clara Serra‐Juhé, Human Genetics	2011	100
Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia Benjamín Rodríguez‐Santiago, A Brunet, Beatriz Sobrino, Molecular Psychiatry Genome-wide Association StudyPsychiatryGeneticsGlutathione S-transferase GenesGenetic Epidemiology	2009	87
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome M. Reza Sailani, Periklis Makrythanasis, Armand Valsesia, Genome Research	2013	82
Heterozygous rare genetic variants in non-syndromic early-onset obesity Clara Serra‐Juhé, Gabriel Ángel Martos‐Moreno, Francesc Bou de Pieri, International Journal of Obesity	2019	55
Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe Milena Paneque, Clara Serra‐Juhé, Rebecka Pestoff, European Journal of Human Genetics NursingReproductive Genetic CounselingFamily MedicineGenetic TestingGenetic Services	2017	38
Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling Laura Alías, Sara Bernal, Maite Calucho, European Journal of Human Genetics EngineeringGenetic DisorderMedicineGeneticsGenetic Epidemiology	2018	36
Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants Clara Serra‐Juhé, Gabriel Ángel Martos‐Moreno, Francesc Bou de Pieri, PLoS Genetics Metabolic DisorderGeneticsGenetic EpidemiologyPathologyCnv Genes	2017	35

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