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American Journal of Medical Genetics. Part A|September 24, 2025
Clinically Irrelevant Terminal 16q21 Deletion Detected by NIPT Is Attributable to Inherited Fragility at FRA16BServi J C Stevens, Wanwisa van Dijk, Nicole Y Souren, et al.
Oncotarget|October 31, 2015
Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patientsBalazs Jóri, Rick Kamps, Sofia Xanthoulea, et al.
Brain : a Journal of Neurology|February 21, 2013
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndromeMike Gerards, Rick Kamps, Jo van Oevelen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2021
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practiceSuzanne C E H Sallevelt, Alexander P A Stegmann, Bart de Koning, et al.
The Journal of Pediatrics|January 14, 2017
Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome SequencingTom E J Theunissen, Suzanne C E H Sallevelt, Debby M E I Hellebrekers, et al.
The Biochemical Journal|May 15, 2014
Archaeal MBF1 binds to 30S and 70S ribosomes via its helix-turn-helix domainFabian Blombach, Helene Launay, Ambrosius P L Snijders, et al.
JACC. Basic to Translational Science|May 4, 2023
Clustering of Cardiac Transcriptome Profiles Reveals Unique: Subgroups of Dilated Cardiomyopathy PatientsJob A J Verdonschot, Ping Wang, Kasper W J Derks, et al.
European Journal of Human Genetics : EJHG|February 15, 2018
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain diseaseRick Kamps, Radek Szklarczyk, Tom E Theunissen, et al.
Frontiers in Neurology|December 1, 2016
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP DefectsTom E J Theunissen, Radek Szklarczyk, Mike Gerards, et al.
Plos One|March 2, 2021
Correction: Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencingRowida Almomani, Margherita Marchi, Maurice Sopacua, et al.
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