Bastarache L

No ORCID on file · 6 papers in corpus · active 2018-2026
2026
Hypophosphatasia: low penetrance of pathogenic and likely-pathogenic ALPL variants identified through an unselected biorepository.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research ·doi:10.1093/jbmr/zjaf176

Hypophosphatasia (HPP) is a heritable multisystem disorder caused by pathogenic variants in the tissue nonspecific alkaline phosphatase (ALP)-coding gene ALPL. The genotype-phenotype correlation in heterozygous adults with HPP remains incom…

2019
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Nature genetics ·doi:10.1038/s41588-019-0447-2

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

2018
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Nature genetics ·doi:10.1038/s41588-017-0011-x

Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal gene…

2018
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Nature genetics ·doi:10.1038/s41588-018-0082-3

In the version of this article originally published, one of the two authors with the name Wei Zhao was omitted from the author list and the affiliations for both authors were assigned to the single Wei Zhao in the author list. In addition, …

2018
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Nature genetics ·doi:10.1038/s41588-018-0050-y

In the published version of this paper, the name of author Emanuele Di Angelantonio was misspelled. This error has now been corrected in the HTML and PDF versions of the article.

2018
Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders.
The Journal of clinical endocrinology and metabolism ·doi:10.1210/jc.2017-02676

ContextMutations in alkaline phosphatase (AlkP), liver/bone/kidney (ALPL), which encodes tissue-nonspecific isozyme AlkP, cause hypophosphatasia (HPP). HPP is suspected by a low-serum AlkP. We hypothesized that some patients with bone or de…