Publications




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.

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.).

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.
Mol Genet Metab Rep 2014 ;1:213-219
Medical Genetics Service, Department of Pediatrics, Sainte-Justine Hospital, University of Montreal; Medical genetics service, Room 6727, Sainte-Justine Hospital, 3175, Côte-Sainte-Catherine, Montréal QC Canada H3T 1C5.






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.


OF