Alfonso Caro‐Llopis

Author

Alfonso Caro‐Llopis

Hospital Universitari i Politècnic La Fe ORCID

Also Known As

A Caro, A. Caro‐Llopis, Alfonso Caro, Alfonso Caro Llopis, Alfonso Caro-Llopis, Alfonso Caro‐Llopis

Publications

796

Citations

H-Index

Concepts

All Affiliations

Hospital Universitari i Politècnic La Fe Baylor College of Medicine Duke University Radboud University Medical Center CHU Dijon Bourgogne

About

Alfonso Caro‐Llopis is an author at Hospital Universitari i Politècnic La Fe specializing in medicine, neurogenetics, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	152
2	Neurology	3	3	82
3	Social Sciences	1	1	30
4	Immunology	1	1	13
5	Molecular Genetics	1	1	13

Alfonso Caro‐Llopis

Publications

679

Citations

H-Index

Page 1

	Year	Citations
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing Francisco Martı́nez, Alfonso Caro‐Llopis, Mónica Rosello, Journal of Medical Genetics	2016	128
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations Jason O'Rawe, Yiyang Wu, Max J. Dörfel, The American Journal of Human Genetics	2015	125
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients Stéphanie Moortgat, Siren Berland, Ingvild Aukrust, European Journal of Human Genetics	2017	98
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay Keren Machol, Justine Rousseau, Sophie Ehresmann, The American Journal of Human Genetics	2018	88
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome Gholson J. Lyon, Marall Vedaie, Travis Beisheim, European Journal of Human Genetics	2023	49
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? Alfonso Caro‐Llopis, Mónica Rosello, Carmen Orellana, Pediatric Research Mendelian DisorderGenetic DisorderGeneticsFragile X SpectrumDegenerative Disease	2016	43
Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing Mónica Rosello, Alfonso Caro‐Llopis, Carmen Orellana, Pediatric Research Mendelian DisorderNeurological DisorderMedicineGeneticsGenetic Disorder	2020	41
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder Xénia Latypova, Marie Vincent, Alice Mollé, The American Journal of Human Genetics Neurodevelopmental DisordersSyndromic AutismPsychiatric GeneticsAutismNeurology	2021	30
A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism Antonio David Hidalgo-Santos, Maria del Carmen DeMingo-Alemany, Francisca Moreno Macián, International Journal of Endocrinology and Metabolism	2018	18
Rare pathogenic variants in WNK3 cause X-linked intellectual disability Sébastien Küry, Jinwei Zhang, Thomas Besnard, Genetics in Medicine Rare Pathogenic VariantsGenetic DisorderGeneticsPathogenesisGenetic Epidemiology	2022	14

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