Tjakko van Ham
24PUBLICATIONS
139CO-AUTHORS
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Publications (24)
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|Mar 11, 2026
HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders.Carolina Jaramillo Oquendo, Federico Ferraro, Htoo A Wai
|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
|Jan 16, 2026
An accurate cellular assay to determine pathogenicity of coding and noncoding variants in Lynch syndrome genes.Iris E Glykofridis, Marleen Dekker, Chantal Stoepker
|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
|Sep 02, 2025
The non-canonical thioreductase Tmx2b is essential for neuronal survival during zebrafish embryonic brain development.Jordy Dekker, Wendy Lam, Herma C van der Linde
|Aug 12, 2025
<i>BLOC1S1</i> variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.Raffaella De Pace, Carlos Dominguez Gonzalez, Chad D Williamson
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Frequent Collaborators
5 joint publications
Tahsin Stefan Barakat
3 joint publications
Lies H Hoefsloot
3 joint publications
Rachel Schot
3 joint publications
Federico Ferraro
3 joint publications
Leslie E Sanderson
2 joint publications
Virginie J M Verhoeven
2 joint publications
Hennie T Brüggenwirth
2 joint publications
Daphne J Smits
2 joint publications
Frank Sleutels
2 joint publications
Mark Nellist
