Matthijs G - Search Results

1

Recommendations for whole genome sequencing in diagnostics for rare diseases.

Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. Souche E, et al. Among authors: matthijs g. Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16. Eur J Hum Genet. 2022. PMID: 35577938 Free PMC article.

2

Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD).

Michils G, Tejpar S, Fryns JP, Legius E, Van Cutsem E, Cassiman JJ, Matthijs G. Michils G, et al. Among authors: matthijs g. Eur J Hum Genet. 2002 Sep;10(9):505-10. doi: 10.1038/sj.ejhg.5200825. Eur J Hum Genet. 2002. PMID: 12173026

3

Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.

Balikova I, Martens K, Melotte C, Amyere M, Van Vooren S, Moreau Y, Vetrie D, Fiegler H, Carter NP, Liehr T, Vikkula M, Matthijs G, Fryns JP, Casteels I, Devriendt K, Vermeesch JR. Balikova I, et al. Among authors: matthijs g. Am J Hum Genet. 2008 Jan;82(1):181-7. doi: 10.1016/j.ajhg.2007.08.001. Am J Hum Genet. 2008. PMID: 18179897 Free PMC article.

4

Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories.

Camajova J, Berwouts S, Matthijs G, Macek M Jr, Dequeker E. Camajova J, et al. Among authors: matthijs g. Eur J Hum Genet. 2009 Apr;17(4):537-40. doi: 10.1038/ejhg.2008.209. Epub 2008 Dec 3. Eur J Hum Genet. 2009. PMID: 19050730 Free PMC article.

5

Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner.

van der Stoep N, van Paridon CD, Janssens T, Krenkova P, Stambergova A, Macek M, Matthijs G, Bakker E. van der Stoep N, et al. Among authors: matthijs g. Hum Mutat. 2009 Jun;30(6):899-909. doi: 10.1002/humu.21004. Hum Mutat. 2009. PMID: 19370767

6

A standardized framework for the validation and verification of clinical molecular genetic tests.

Mattocks CJ, Morris MA, Matthijs G, Swinnen E, Corveleyn A, Dequeker E, Müller CR, Pratt V, Wallace A; EuroGentest Validation Group. Mattocks CJ, et al. Among authors: matthijs g. Eur J Hum Genet. 2010 Dec;18(12):1276-88. doi: 10.1038/ejhg.2010.101. Epub 2010 Jul 28. Eur J Hum Genet. 2010. PMID: 20664632 Free PMC article.

7

Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes.

Sorte H, Mørkrid L, Rødningen O, Kulseth MA, Stray-Pedersen A, Matthijs G, Race V, Houge G, Fiskerstrand T, Bjurulf B, Lyle R, Prescott T. Sorte H, et al. Among authors: matthijs g. Eur J Med Genet. 2012 Mar;55(3):196-202. doi: 10.1016/j.ejmg.2012.01.003. Epub 2012 Jan 16. Eur J Med Genet. 2012. PMID: 22306853

8

Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.

Herdewyn S, Zhao H, Moisse M, Race V, Matthijs G, Reumers J, Kusters B, Schelhaas HJ, van den Berg LH, Goris A, Robberecht W, Lambrechts D, Van Damme P. Herdewyn S, et al. Among authors: matthijs g. Hum Mol Genet. 2012 Jun 1;21(11):2412-9. doi: 10.1093/hmg/dds055. Epub 2012 Feb 17. Hum Mol Genet. 2012. PMID: 22343411 Free PMC article.

9

Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.

Matthijs G, Rymen D, Millón MB, Souche E, Race V. Matthijs G, et al. Glycoconj J. 2013 Jan;30(1):67-76. doi: 10.1007/s10719-012-9445-7. Epub 2012 Sep 15. Glycoconj J. 2013. PMID: 22983704 Review.

10

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.

Zhao H, Race V, Matthijs G, De Jonghe P, Robberecht W, Lambrechts D, Van Damme P. Zhao H, et al. Among authors: matthijs g. Eur J Hum Genet. 2014 Jun;22(6):847-50. doi: 10.1038/ejhg.2013.231. Epub 2013 Oct 9. Eur J Hum Genet. 2014. PMID: 24105373 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

346 results

Search Page