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Publications by Slobodanka Radović

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

American Journal of Human Genetics

English

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De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

American Journal of Human Genetics

English

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

American Journal of Human Genetics

English

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

American Journal of Human Genetics

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Early Onset Mandibuloacral Dysplasia Due to Compound Heterozygous Mutations in ZMPSTE24

American Journal of Medical Genetics, Part A

English

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Neuropediatrics

English

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

American Journal of Human Genetics

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SLC10A7 Mutations Cause a Skeletal Dysplasia With Amelogenesis Imperfecta Mediated by GAG Biosynthesis Defects

Nature Communications

Molecular Biology

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De Novo ITPR1 Variants Are a Recurrent Cause of Early-Onset Ataxia, Acting via Loss of Channel Function

European Journal of Human Genetics

English

Early-Onset Epileptic Encephalopathy and Severe Developmental Delay in an Association With De Novo Double Mutations in NF1 and MAGEL2

English