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1
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
Am J Hum Genet. 2013 Jan 10;92(1):137-43. doi: 10.1016/j.ajhg.2012.11.011. Epub 2012 Dec 27.
2
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.
J Hum Genet. 2013 Jun;58(6):391-4. doi: 10.1038/jhg.2013.25. Epub 2013 Apr 4.
3
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.
Am J Hum Genet. 2013 Jan 10;92(1):144-9. doi: 10.1016/j.ajhg.2012.11.015. Epub 2012 Dec 27.
4
INPPL1 gene mutations in opsismodysplasia.
J Hum Genet. 2017 Feb;62(2):135-140. doi: 10.1038/jhg.2016.119. Epub 2016 Oct 6.
6
Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.
Am J Med Genet A. 2014 Sep;164A(9):2407-11. doi: 10.1002/ajmg.a.36640. Epub 2014 Jun 20.
10
Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy.
Front Pediatr. 2015 Jun 22;3:48. doi: 10.3389/fped.2015.00048. eCollection 2015.

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2
VerteBrain reveals novel neural and non-neural protein assemblies conserved across vertebrate evolution.
bioRxiv. 2025 May 28:2025.05.26.656196. doi: 10.1101/2025.05.26.656196.
3
Cell expansion for notochord mechanics and endochondral bone lengthening in zebrafish depends on the 5'-inositol phosphatase Inppl1a.
Curr Biol. 2025 May 5;35(9):1949-1962.e6. doi: 10.1016/j.cub.2025.03.022. Epub 2025 Apr 9.
4
Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders.
J Inherit Metab Dis. 2025 Mar;48(2):e70008. doi: 10.1002/jimd.70008.
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A Case of Opsismodysplasia with a Novel Variant.
Mol Syndromol. 2025 Feb;16(1):49-54. doi: 10.1159/000540189. Epub 2024 Sep 30.
6
Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.
Orphanet J Rare Dis. 2024 Jan 30;19(1):32. doi: 10.1186/s13023-024-03040-0.
7
Genome-wide CRISPR/Cas9 screens reveal shared and cell-specific mechanisms of resistance to SHP2 inhibition.
J Exp Med. 2023 May 1;220(5). doi: 10.1084/jem.20221563. Epub 2023 Feb 23.
8
Prenatal-onset -related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality.
Clin Case Rep. 2021 May 28;9(5):e04079. doi: 10.1002/ccr3.4079. eCollection 2021 May.
9
Craniofacial Diseases Caused by Defects in Intracellular Trafficking.
Genes (Basel). 2021 May 13;12(5):726. doi: 10.3390/genes12050726.
10
PhenoModifier: a genetic modifier database for elucidating the genetic basis of human phenotypic variation.
Nucleic Acids Res. 2020 Jan 8;48(D1):D977-D982. doi: 10.1093/nar/gkz930.

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1
Developmental defects and rescue from glucose intolerance of a catalytically-inactive novel Ship2 mutant mouse.
Cell Signal. 2012 Nov;24(11):1971-80. doi: 10.1016/j.cellsig.2012.06.012. Epub 2012 Jun 30.
3
Fast and accurate short read alignment with Burrows-Wheeler transform.
Bioinformatics. 2009 Jul 15;25(14):1754-60. doi: 10.1093/bioinformatics/btp324. Epub 2009 May 18.
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Absence of the lipid phosphatase SHIP2 confers resistance to dietary obesity.
Nat Med. 2005 Feb;11(2):199-205. doi: 10.1038/nm1178. Epub 2005 Jan 16.
6
The lipid phosphatase SHIP2 controls insulin sensitivity.
Nature. 2001 Jan 4;409(6816):92-7. doi: 10.1038/35051094.
7
Five familial cases of opsismodysplasia substantiate the hypothesis of autosomal recessive inheritance.
Am J Med Genet. 1999 Mar 5;83(1):47-52. doi: 10.1002/(sici)1096-8628(19990305)83:1<47::aid-ajmg9>3.0.co;2-5.
8
Additional case of opsismodysplasia supporting autosomal recessive inheritance.
Am J Med Genet. 1994 Feb 1;49(3):344-7. doi: 10.1002/ajmg.1320490321.
9
Opsismodysplasia: another case and literature review.
Clin Dysmorphol. 1995 Jul;4(3):222-6.

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