Rachel Schot

10PUBLICATIONS
90CO-AUTHORS
Gene and molecular therapyNeurogeneticsCardiology (incl. cardiovascular diseases)Cell and nuclear divisionEpigenetics (incl. genome methylation and epigenomics)
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Publications (10)

|Apr 23, 2026
Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

|Mar 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Daniel Greene, Rodrigo Mendez, Jon Lees

|Feb 04, 2026
Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature.

Fatimah Albuainain, Myrrhe Venema, Rachel Schot

|Oct 20, 2025
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Daphne J Smits, Federico Ferraro, Mark Drost

|Jul 29, 2025
Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Daphne J Smits, Christophe Debuy, Alice S Brooks

|Apr 10, 2025
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

Daniel Greene, Koenraad De Wispelaere, Jon Lees

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Frequent Collaborators

7 joint publications

Tahsin Stefan Barakat

5 joint publications

Frank Sleutels

4 joint publications

Federico Ferraro

3 joint publications

Ernest Turro