Concepedia

Alfonso Caro‐Llopis

AC

14

Publications

679

Citations

11

H-Index

2015

Active since

Affiliations

Hospital Universitari i Politècnic La Fe(Current)

Baylor College of Medicine

Duke University

Radboud University Medical Center

CHU Dijon Bourgogne

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

ORCID

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Publications per year

2015–2023

14

Publications

14

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

Francisco Martı́nez, Alfonso Caro‐Llopis, Mónica Rosello et al. · Journal of Medical Genetics · 2016 · 128 citations

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Jason O'Rawe, Yiyang Wu, Max J. Dörfel et al. · The American Journal of Human Genetics · 2015 · 125 citations · Full text

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

Stéphanie Moortgat, Siren Berland, Ingvild Aukrust et al. · European Journal of Human Genetics · 2017 · 98 citations · Full text

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 et al. · The American Journal of Human Genetics · 2018 · 88 citations · Full text

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

Gholson J. Lyon, Marall Vedaie, Travis Beisheim et al. · European Journal of Human Genetics · 2023 · 49 citations · Full text

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