Elise Schaefer
5PUBLICATIONS
135CO-AUTHORS
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Publications (5)
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|Mar 10, 2026
The STING HAQ haplotype and clinical non-penetrance in COPA syndrome.Clémence David, Tifenn Wauquier, Alix de Becdelièvre
|Jan 28, 2026
Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani
|Jan 31, 2023
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance.Mira Brazane, Dilyana G Dimitrova, Julien Pigeon
|Nov 26, 2022
Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark-Baraitser Syndrome.Liselot van der Laan, Kathleen Rooney, Mariëlle Alders
|Feb 15, 2022
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for <i>KMT2A</i>-Related Syndrome.Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai
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Frequent Collaborators
2 joint publications
Jennifer Kerkhof
1 joint publications
Aidin Foroutan
1 joint publications
Sadegheh Haghshenas
1 joint publications
Marcello Niceta
1 joint publications
Evelina Miele
1 joint publications
Giuseppe Merla
1 joint publications
Klaus Dieterich
1 joint publications
Antonio Vitobello
1 joint publications
Cristina Gervasini
1 joint publications
Ingrid van de Laar
