Jeroen van Reeuwijk
Overview
Explore the profile of Jeroen van Reeuwijk including associated specialties, affiliations and a list of published articles.
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47
Citations
2418
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Recent Articles
1.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer A, et al.
Nat Med
. 2025 Jan;
31(2):478-489.
PMID: 39825153
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource,...
2.
Schobers G, Pennings M, de Vries J, Kwint M, van Reeuwijk J, Galbany J, et al.
Eur J Hum Genet
. 2024 Sep;
33(1):56-64.
PMID: 39333430
Clinical exome sequencing (ES) has facilitated genetic diagnosis in individuals with a rare genetic disorder by analysis of all protein-coding sequences in a single experiment. However, in 40-60% of patients,...
3.
Dingemans A, Jansen S, van Reeuwijk J, de Leeuw N, Pfundt R, Schuurs-Hoeijmakers J, et al.
Nat Med
. 2024 May;
30(7):1994-2003.
PMID: 38745008
The prevalence of comorbidities in individuals with neurodevelopmental disorders (NDDs) is not well understood, yet these are important for accurate diagnosis and prognosis in routine care and for characterizing the...
4.
Schobers G, Derks R, Ouden A, Swinkels H, van Reeuwijk J, Bosgoed E, et al.
Genome Med
. 2024 Feb;
16(1):32.
PMID: 38355605
Background: To diagnose the full spectrum of hereditary and congenital diseases, genetic laboratories use many different workflows, ranging from karyotyping to exome sequencing. A single generic high-throughput workflow would greatly...
5.
de Boer E, Ockeloen C, Kampen R, Hampstead J, Dingemans A, Rots D, et al.
Genet Med
. 2023 Sep;
25(11):100962.
PMID: 37658852
No abstract available.
6.
Dingemans A, Hinne M, Truijen K, Goltstein L, van Reeuwijk J, de Leeuw N, et al.
Nat Genet
. 2023 Aug;
55(9):1598-1607.
PMID: 37550531
Several molecular and phenotypic algorithms exist that establish genotype-phenotype correlations, including facial recognition tools. However, no unified framework that investigates both facial data and other phenotypic data directly from individuals...
7.
de Boer E, Marcelis C, Neveling K, van Beusekom E, Hoischen A, Klein W, et al.
HGG Adv
. 2023 May;
4(3):100200.
PMID: 37216008
Split-hand/foot malformation (SHFM) is a congenital limb defect most typically presenting with median clefts in hands and/or feet, that can occur in a syndromic context as well as in isolated...
8.
van der Sanden B, Schobers G, Galbany J, Koolen D, Sinnema M, van Reeuwijk J, et al.
Eur J Hum Genet
. 2022 Sep;
31(1):81-88.
PMID: 36114283
Genome sequencing (GS) can identify novel diagnoses for patients who remain undiagnosed after routine diagnostic procedures. We tested whether GS is a better first-tier genetic diagnostic test than current standard...
9.
de Boer E, Ockeloen C, Kampen R, Hampstead J, Dingemans A, Rots D, et al.
Genet Med
. 2022 Jul;
24(10):2051-2064.
PMID: 35833929
Purpose: Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized clinical, molecular, and functional...
10.
van der Velde K, Singh G, Kaliyaperumal R, Liao X, de Ridder S, Rebers S, et al.
Sci Data
. 2022 Apr;
9(1):169.
PMID: 35418585
The genomes of thousands of individuals are profiled within Dutch healthcare and research each year. However, this valuable genomic data, associated clinical data and consent are captured in different ways...