Search Page
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
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2021 | 1 |
2022 | 1 |
2023 | 3 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Genet Med. 2023 Sep;25(9):100883. doi: 10.1016/j.gim.2023.100883. Epub 2023 May 5.
Genet Med. 2023.
PMID: 37154149
Free article.
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Hyder Z, Calpena E, Pei Y, Tooze RS, Brittain H, Twigg SRF, Cilliers D, Morton JEV, McCann E, Weber A, Wilson LC, Douglas AGL, McGowan R, Need A, Bond A, Tavares ALT, Thomas ERA; Genomics England Research Consortium; Hill SL, Deans ZC, Boardman-Pretty F, Caulfield M, Scott RH, Wilkie AOM.
Hyder Z, et al.
Genet Med. 2021 Dec;23(12):2360-2368. doi: 10.1038/s41436-021-01297-5. Epub 2021 Aug 25.
Genet Med. 2021.
PMID: 34429528
Free PMC article.
Item in Clipboard
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function.
Tooze RS, Calpena E, Twigg SRF, D'Arco F; Genomics England Research Consortium; Wakeling EL, Wilkie AOM.
Tooze RS, et al.
J Med Genet. 2023 Jul;60(7):712-716. doi: 10.1136/jmg-2022-108946. Epub 2022 Dec 21.
J Med Genet. 2023.
PMID: 36543535
Free PMC article.
Item in Clipboard
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.
Tooze RS, Calpena E, Weber A, Wilson LC, Twigg SRF, Wilkie AOM.
Tooze RS, et al.
Genes (Basel). 2023 Feb 28;14(3):615. doi: 10.3390/genes14030615.
Genes (Basel). 2023.
PMID: 36980886
Free PMC article.
Item in Clipboard
Cite
Cite