Joke B G M Verheij
Overview
Explore the profile of Joke B G M Verheij including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
37
Citations
1219
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born L, Fajardy I, et al.
HGG Adv
. 2023 Feb;
4(2):100181.
PMID: 36785559
A significant number of individuals with a rare disorder such as Usher syndrome (USH) and (non-)syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically unexplained. Therefore, we assessed subjects suspected of...
2.
Corsten-Janssen N, Bouman K, Diphoorn J, Scheper A, Kinds R, El Mecky J, et al.
Prenat Diagn
. 2020 Jul;
40(10):1300-1309.
PMID: 32627857
Objective: Conventional genetic tests (quantitative fluorescent-PCR [QF-PCR] and single nucleotide polymorphism-array) only diagnose ~40% of fetuses showing ultrasound abnormalities. Rapid exome sequencing (rES) may improve this diagnostic yield, but includes...
3.
Williamson K, Hall H, Owen L, Livesey B, Hanson I, Adams G, et al.
Genet Med
. 2019 Nov;
22(3):598-609.
PMID: 31700164
Purpose: Most classical aniridia is caused by PAX6 haploinsufficiency. PAX6 missense variants can be hypomorphic or mimic haploinsufficiency. We hypothesized that missense variants also cause previously undescribed disease by altering...
4.
Sanchez E, Laplace-Builhe B, Mau-Them F, Richard E, Goldenberg A, Toler T, et al.
Genet Med
. 2019 Oct;
22(3):547-556.
PMID: 31649276
Purpose: Treacher Collins syndrome (TCS) is a rare autosomal dominant mandibulofacial dysostosis, with a prevalence of 0.2-1/10,000. Features include bilateral and symmetrical malar and mandibular hypoplasia and facial abnormalities due...
5.
Runhart E, Valkenburg D, Cornelis S, Khan M, Sangermano R, Albert S, et al.
Invest Ophthalmol Vis Sci
. 2019 Oct;
60(13):4249-4256.
PMID: 31618761
Purpose: To investigate the role of two deep-intronic ABCA4 variants, that showed a mild splice defect in vitro and can occur on the same allele as the low penetrant c.5603A>T,...
6.
Sangermano R, Garanto A, Khan M, Runhart E, Bauwens M, Bax N, et al.
Genet Med
. 2019 Jan;
21(8):1751-1760.
PMID: 30643219
Purpose: Using exome sequencing, the underlying variants in many persons with autosomal recessive diseases remain undetected. We explored autosomal recessive Stargardt disease (STGD1) as a model to identify the missing...
7.
Runhart E, Sangermano R, Cornelis S, Verheij J, Plomp A, Boon C, et al.
Invest Ophthalmol Vis Sci
. 2018 Jul;
59(8):3220-3231.
PMID: 29971439
Purpose: To assess the occurrence and the disease expression of the common p.Asn1868Ile variant in patients with Stargardt disease (STGD1) harboring known, monoallelic causal ABCA4 variants. Methods: The coding and...
8.
van Rijn J, Ardy R, Kuloglu Z, Harter B, Van Haaften-Visser D, van der Doef H, et al.
Gastroenterology
. 2018 Apr;
155(1):130-143.e15.
PMID: 29604290
Background & Aims: Congenital diarrheal disorders are rare inherited intestinal disorders characterized by intractable, sometimes life-threatening, diarrhea and nutrient malabsorption; some have been associated with mutations in diacylglycerol-acyltransferase 1 (DGAT1),...
9.
Halim D, Wilson M, Oliver D, Brosens E, Verheij J, Han Y, et al.
Proc Natl Acad Sci U S A
. 2017 Mar;
114(13):E2739-E2747.
PMID: 28292896
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital visceral myopathy characterized by severe dilation of the urinary bladder and defective intestinal motility. The genetic basis of MMIHS has been...
10.
Gui H, Schriemer D, Cheng W, Chauhan R, Antinolo G, Berrios C, et al.
Genome Biol
. 2017 Mar;
18(1):48.
PMID: 28274275
Background: Hirschsprung disease (HSCR), which is congenital obstruction of the bowel, results from a failure of enteric nervous system (ENS) progenitors to migrate, proliferate, differentiate, or survive within the distal...