Jasper J. van der Smagt

Publications

207

Citations

H-Index

2009

Active since

Affiliations

University Medical Center Utrecht(Current)

Leiden University Medical Center

Jasper J. van der Smagt is an author at University Medical Center Utrecht specializing in medicine, neurodevelopmental disorders, and developmental biology.

Top concepts

MedicineCardiologyNeuroscienceDown SyndromeNeurogeneticsSocial SciencesDevelopmental BiologyDevelopmental NeuroscienceNeurodevelopmental Disorders

Publications per year

2009–2022

Publications

Dominant-Negative <i>ALK2</i> Allele Associates With Congenital Heart Defects

K. A. Smith, Irene C. Joziasse, Sonja Chocron et al. · Circulation · 2009 · 98 citations

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor et al. · Genetics in Medicine · 2022 · 44 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Genetic Disorder +7

ALK2 mutation in a patient with Down's syndrome and a congenital heart defect

Irene C. Joziasse, K. A. Smith, Sonja Chocron et al. · European Journal of Human Genetics · 2011 · 40 citations · Full text

Down Syndrome, Pediatric Heart Disease, Alk2 Mutation +5

Juvenile interleukin-36 receptor antagonist deficiency (DITRA) with c.80T>C (p.Leu27Pro) mutation successfully treated with etanercept and acitretin

Edwin Cuperus, Rosanne Koevoets, Jasper J. van der Smagt et al. · JAAD Case Reports · 2018 · 25 citations · Full text

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