@article {162,
	title = {A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).},
	journal = {Am J Med Genet A},
	volume = {167A},
	year = {2015},
	month = {2015 Oct},
	pages = {2470-3},
	keywords = {Exome, Gene Expression, Genetic Loci, Gestational Age, Homozygote, Humans, Hydrops Fetalis, Infant, Newborn, Male, Mutation, Osteochondrodysplasias, Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases, Phosphoric Monoester Hydrolases, Stillbirth},
	issn = {1552-4833},
	doi = {10.1002/ajmg.a.37173},
	author = {Lee, Hane and Nevarez, Lisette and Lachman, Ralph S and Wilcox, William R and Krakow, Deborah and Cohn, Daniel H}
}
@article {239,
	title = {Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.},
	journal = {Am J Med Genet A},
	volume = {164A},
	year = {2014},
	month = {2014 Sep},
	pages = {2407-11},
	keywords = {Adolescent, Amino Acid Sequence, Base Sequence, Child, Child, Preschool, Female, Humans, Infant, Molecular Sequence Data, Mutagenesis, Insertional, Mutation, Osteochondrodysplasias, Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases, Phosphoric Monoester Hydrolases, Protein Stability, Radiography, RNA Splice Sites, src Homology Domains},
	issn = {1552-4833},
	doi = {10.1002/ajmg.a.36640},
	author = {Li, Bing and Krakow, Deborah and Nickerson, Deborah A and Bamshad, Michael J and Chang, Yong and Lachman, Ralph S and Yilmaz, Alev and Kayserili, H{\"u}lya and Cohn, Daniel H}
}
@article {313,
	title = {Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.},
	journal = {Am J Hum Genet},
	volume = {92},
	year = {2013},
	month = {2013 Jan 10},
	pages = {137-43},
	abstract = {<p>Opsismodysplasia is a rare, autosomal-recessive skeletal dysplasia characterized by short stature, characteristic facial features, and in some cases severe renal phosphate wasting. We used linkage analysis and whole-genome sequencing of a consanguineous trio to discover that mutations in inositol polyphosphate phosphatase-like 1 (INPPL1) cause opsismodysplasia with or without renal phosphate wasting. Evaluation of 12 families with opsismodysplasia revealed that INPPL1 mutations explain ~60\% of cases overall, including both of the families in our cohort with more than one affected child and 50\% of the simplex cases.</p>},
	keywords = {Child, Child, Preschool, Female, Genome, Human, Humans, Infant, Infant, Newborn, Male, Mutation, Osteochondrodysplasias, Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases, Phosphoric Monoester Hydrolases},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2012.11.011},
	author = {Below, Jennifer E and Earl, Dawn L and Shively, Kathryn M and McMillin, Margaret J and Smith, Joshua D and Turner, Emily H and Stephan, Mark J and Al-Gazali, Lihadh I and Hertecant, Jozef L and Chitayat, David and Unger, Sheila and Cohn, Daniel H and Krakow, Deborah and Swanson, James M and Faustman, Elaine M and Shendure, Jay and Nickerson, Deborah A and Bamshad, Michael J}
}
