James T Lu

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James T Lu

Publications by authors named "James T Lu"

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22Publications

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Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.

Am J Med Genet A 2015 Jun 2;167(6):1309-14. Epub 2015 Apr 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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June 2015

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.

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November 2014

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.).

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August 2014

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.

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January 2014

Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.

J Bone Miner Res 2013 Nov;28(11):2333-7

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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November 2013

Early childhood presentation of Czech dysplasia.

Clin Dysmorphol 2013 Apr;22(2):76-80

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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April 2013

The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.

Hum Mutat 2012 Nov 12;33(11):1520-5. Epub 2012 Jul 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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November 2012

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.

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November 2012

Characterizing linkage disequilibrium and evaluating imputation power of human genomic insertion-deletion polymorphisms.

Genome Biol 2012 Feb 29;13(2):R15. Epub 2012 Feb 29.

Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.

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February 2012

Thin collagen film scaffolds for retinal epithelial cell culture.

Biomaterials 2007 Mar 11;28(8):1486-94. Epub 2006 Dec 11.

Department of Chemical Engineering, Stanford University, Stanford, CA 94305, USA.

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March 2007