Concepedia

Sandra Monfort

SM

Statistics

Publications

23

Citations

895

H-Index

17

Active since

1995

Affiliations

Hospital Universitari i Politècnic La Fe(Current)

Centre for Biomedical Network Research on Rare Diseases

Duke University

Radboud University Medical Center

Hospital General Universitario De Valencia

Sandra Monfort is an author at Hospital Universitari i Politècnic La Fe specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

1995–2022

23

Publications

23

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 · 128 citations · Full text

, , +17

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

, , +16

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 · 91 citations · Full text

, , +17

Spermatology for understanding, managing and conserving rare species

D. E. Wildt, Budhan S. Pukazhenthi, Janine L. Brown et al. · Reproduction Fertility and Development · 1995 · 75 citations

, , +13

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes

Francisco Martı́nez, Purificación Marín Reina, A. Sanchís Calvo et al. · Pediatric Research · 2015 · 51 citations · Full text

, , +10

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