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Publications by Sigrid M.A. Swagemakers
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder
American Journal of Human Genetics
Genetics
An Autoimmune Phenotype in Vulvar Lichen Sclerosus and Lichen Planus: A Th1 Response and High Levels of MicroRNA-155
Journal of Investigative Dermatology
Biochemistry
Dermatology
Cell Biology
Molecular Biology
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De Novo Microduplication of CHL1 in a Patient With Non-Syndromic Developmental Phenotypes
Molecular Cytogenetics
Biochemistry
Molecular Medicine
Genetics
Molecular Biology
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
The HAT4 Gene of Arabidopsis Encodes a Developmental Regulator.
Genes and Development
Genetics
Developmental Biology
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
Mutations in the Human SC4MOL Gene Encoding a Methyl Sterol Oxidase Cause Psoriasiform Dermatitis, Microcephaly, and Developmental Delay
Journal of Clinical Investigation
Medicine
De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy
American Journal of Human Genetics
Genetics
A De Novo Missense Mutation in a Critical Domain of the X-Linked DDP Gene Causes the Typical Deafness–dystonia–optic Atrophy Syndrome
European Journal of Human Genetics
Genetics
The Important Function of Mediator Complex in Controlling the Developmental Transitions in Plants
International Journal of Molecular Sciences
Organic Chemistry
Molecular Biology
Theoretical Chemistry
Inorganic Chemistry
Computer Science Applications
Spectroscopy
Medicine
Catalysis
Physical