Hannah Stamberger

University of Antwerp — Belgium

Biochemistry, Genetics and Molecular Biology · Life Sciences

27h-index3.0kcitations38works12.32yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(21), Genomics and Rare Diseases(20), Genomic variations and chromosomal abnormalities(8), Epilepsy research and treatment(7), RNA regulation and disease(6)

Publications36 total

SUDEP risk is influenced by longevity genomics: a polygenic risk score study
EBioMedicine·2025· 3 citedOpen Access
Antisense oligonucleotides modulate aberrant inclusion of poison exons in SCN1A-related Dravet syndrome
JCI Insight·2025· 6 citedOpen Access
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, <i>ATP9A</i>, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability
Human Mutation·2025· 1 citedOpen Access
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
Nature Communications·2023· 53 citedOpen Access
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Molecular Psychiatry·2022· 32 citedOpen Access
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
Neurology·2022· 53 citedOpen Access
<i>De novo FZR1</i> loss-of-function variants cause developmental and epileptic encephalopathies
Brain·2021· 16 citedOpen Access
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
The American Journal of Human Genetics·2021· 4 citedOpen Access
Distinct gene-set burden patterns underlie common generalized and focal epilepsies
EBioMedicine·2021· 15 citedOpen Access
Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals
Brain·2021· 111 citedOpen Access
<i>De novo FZR1</i> loss-of-function variants cause developmental and epileptic encephalopathies including Myoclonic Atonic Epilepsy
2021· 1 citedOpen Access
<i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
Brain·2021· 94 citedOpen Access
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
The American Journal of Human Genetics·2021· 58 citedOpen Access
<i>RHOBTB2</i> Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood
Neurology·2021· 27 citedOpen Access
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
Genetics in Medicine·2020· 54 citedOpen Access
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
Brain·2020· 77 citedOpen Access
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Nature Communications·2020· 52 citedOpen Access
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A
npj Genomic Medicine·2019· 39 citedOpen Access
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
The American Journal of Human Genetics·2019· 298 citedOpen Access
Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks <i>de novo</i> variants linked to Dravet syndrome in novel <i>SCN1A</i> exons
2019Open Access
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Frequent Co-authors

Sarah Weckhuysen(39), Ingo Helbig(21), Peter De Jonghe(20), Renzo Guerrini(17), Rikke S. Møller(16), Sanjay M. Sisodiya(16), Pasquale Striano(14), Hiltrud Muhle(14), Ingrid E. Scheffer(13), Johannes R. Lemke(12), Manuela Pendziwiat(12), Patrick May(11), Katalin Štěrbová(11), Henrike Heyne(10), Dennis Lal(10), Slavé Petrovski(10), Gianpiero L. Cavalleri(9), Brigid M. Regan(9), Karl Martin Klein(9), Felix Rosenow(9)