Publications





Intra-iliac Artery Injection for Efficient and Selective Modeling of Microscopic Bone Metastasis.
J Vis Exp 2016 Sep 26(115). Epub 2016 Sep 26.
Lester and Sue Smith Breast Center, Baylor College of Medicine; Department of Molecular and Cellular Biology, Baylor College of Medicine; McNair Medical Institute, Baylor College of Medicine; Dan L. Duncan Cancer Center, Baylor College of Medicine;


Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency.
Hum Mol Genet 2015 Nov 10;24(22):6417-27. Epub 2015 Sep 10.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA, Texas Children's Hospital, Houston, TX 77030, USA,


Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
Am J Hum Genet 2015 May;96(5):841-9
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.
J Clin Endocrinol Metab 2014 Nov 22;99(11):E2451-6. Epub 2014 Jul 22.
Department of Molecular and Human Genetics (A.R., D.L., R.G., P.C., B.L.), Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030; Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE) (D.B., F.C., H.C., I.B.), CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, C1425FD Buenos Aires, Argentina; Human Genome Sequencing Center (J.T.L., R.G.), Department of Structural and Computational Biology and Molecular Biophysics (J.T.L.), Baylor College of Medicine, Houston, Texas 77030; Unidad de Metabolismo (S.K.), Hospital de Niños Ricardo Gutiérrez, C1425FD Buenos Aires, Argentina; Unidad de Nefrología (J.M.L., G.V.), Hospital de Niños Ricardo Gutiérrez, C1425FD Buenos Aires, Argentina; Howard Hughes Medical Institute (B.L.), Houston, Texas 77030.

Notch activation as a driver of osteogenic sarcoma.
Cancer Cell 2014 Sep;26(3):390-401
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, R815, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, One Baylor Plaza, R815, Houston, TX 77030, USA; Howard Hughes Medical Institute, Houston, TX 77030, USA. Electronic address:

The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations.
Hum Mol Genet 2014 Aug 14;23(15):4035-42. Epub 2014 Mar 14.
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA Howard Hughes Medical Institute, One Baylor Plaza, Houston, TX 77030, USA

Genotype-phenotype correlation--promiscuity in the era of next-generation sequencing.
N Engl J Med 2014 Aug;371(7):593-6
From the Human Genome Sequencing Center and the Department of Structural and Computational Biology and Molecular Biophysics (J.T.L.), and the Department of Molecular and Human Genetics (B.H.L)., Baylor College of Medicine; and the Howard Hughes Medical Institutes (B.H.L.) - both in Houston; and the Medical Genetics Service, Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal (P.M.C.).


Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues.
PLoS Genet 2014 Jan 23;10(1):e1004121. Epub 2014 Jan 23.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America ; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas, United States of America.






Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
Hum Mol Genet 2012 Nov 8;21(22):4904-9. Epub 2012 Aug 8.
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.


Lysinuric Protein Intolerance Presenting with Multiple Fractures.
Mol Genet Metab Rep 2014 ;1:176-183
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Suite R814, Houston, TX, 77030-3411, USA ; Howard Hughes Medical Institute, Houston, TX, USA.

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