David Valle

Professor

1971 …2020

Research output per year

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Research Output

Article

Clinical, biochemical, and therapeutic aspects of gyrate atrophy

Kaiser-Kupfer, M. I. & Valle, D., 1987, In : Progress in Retinal Research. 6, C, p. 179-206 28 p.

Research output: Contribution to journalArticle

Clinical and biochemical heterogeneity in gyrate atrophy

Kaiser-Kupfer, M. I., Valle, D. & Bron, A. J., 1980, In : American Journal of Ophthalmology. 89, 2, p. 219-222 4 p.

Research output: Contribution to journalArticle

Cloning, characterization, and expression of cDNAs encoding human Δ1-Pyrroline-5-carboxylate dehydrogenase

Hu, C. A. A., Lin, W. W. & Valle, D., Apr 19 1996, In : Journal of Biological Chemistry. 271, 16, p. 9795-9800 6 p.

Research output: Contribution to journalArticle

CLUSTER OF TRISOMY 13 LIVE BIRTHS

Pai, G. S., Valle, D., Thomas, G. & Rosenbaum, K., Mar 18 1978, In : The Lancet. 311, 8064, p. 613 1 p.

Research output: Contribution to journalArticle

Cobalamin C defect associated with hemolytic-uremic syndrome

Geraghty, M. T., Perlman, E. J., Martin, L. S., Hayflick, S. J., Casella, J. F., Rosenblatt, D. S. & Valle, D., 1992, In : Journal of Pediatrics. 120, 6, p. 934-937 4 p.

Research output: Contribution to journalArticle

Compartmental Analysis of Sulfobromophthalein Transport in Normal Patients and Patients with Hepatic Dysfunction

Quarfordt, S. H., Hilderman, H. L., Valle, D. & Waddell, E., Jan 1 1971, In : Gastroenterology. 60, 2, p. 246-255 10 p.

Research output: Contribution to journalArticle

Completing the map of human genetic variation

Eichler, E. E., Nickerson, D. A., Altshuler, D., Bowcock, A. M., Brooks, L. D., Carter, N. P., Church, D. M., Felsenfeld, A., Guyer, M., Lee, C., Lupski, J. R., Mullikin, J. C., Pritchard, J. K., Sebat, J., Sherry, S. T., Smith, D., Valle, D. & Waterston, R. H., May 10 2007, In : Nature. 447, 7141, p. 161-165 5 p.

Research output: Contribution to journalArticle

Conrneal tyrosine crystals in transient neonatal tyrosinemia

Driscoll, D. J., Jabs, E. W., Alcorn, D., Maumenee, I. H., Brusilow, S. W. & Valle, D., 1988, In : Journal of Pediatrics. 113, 1 PART 1, p. 91-93 3 p.

Research output: Contribution to journalArticle

Cryptic exon activation by disruption of exon splice enhancer. Novel mechanism causing 3-methyl crotonyl-CoA carboxylase deficiency

Stucki, M., Suormala, T., Fowler, B., Valle, D. & Baumgartner, M. R., Oct 16 2009, In : Journal of Biological Chemistry. 284, 42, p. 28953-28957 5 p.

Research output: Contribution to journalArticle

Defective imino acid metabolism in hypoglycin-treated rats

Goodman, S. I. & Valle, D., Feb 1984, In : Biochemical Medicine. 31, 1, p. 97-103 7 p.

Research output: Contribution to journalArticle

Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant

Hamosh, A., McDonald, J. W., Valle, D., Francomano, C. A., Niedermeyer, E. & Johnston, M. V., 1992, In : Journal of Pediatrics. 121, 1, p. 131-135 5 p.

Research output: Contribution to journalArticle

Disorders of peroxisome biogenesis

Braverman, N., Dodt, G., Gould, S. J. & Valle, D., 1995, In : Human Molecular Genetics. 4, REV. ISS., p. 1791-1798 8 p.

Research output: Contribution to journalArticle

DNA methylation regulates microRNA expression

Han, L., Witmer, P. D., Casey, E., Valle, D. & Sukumar, S., Aug 2007, In : Cancer Biology and Therapy. 6, 8, p. 1284-1288 5 p.

Research output: Contribution to journalArticle

Early manifestations of multiple sulfatase deficiency

Burk, R. D., Valle, D., Thomas, G. H., Miller, C., Moser, A. B., Moser, H. & Rosenbaum, K. N., 1984, In : Journal of Pediatrics. 104, 4, p. 574-578 5 p.

Research output: Contribution to journalArticle

Erratum: (Mammalian Genome (1996) 7:9 (2465-2494))

Mullis, K. G., Neufeld, E. F., Muenzer, J., Scriver, C. R., Beaudet, A. L., Sly, W. S. & Valle, D., 1997, In : Mammalian Genome. 8, 2, p. 161 1 p.

Research output: Contribution to journalArticle

Expression of PEX11β mediates peroxisome proliferation in the absence of extracellular stimuli

Schrader, M., Reuber, B. E., Morrell, J. C., Jimenez-Sanchez, G., Obie, C., Stroh, T. A., Valle, D., Schroer, T. A. & Gould, S. J., Nov 6 1998, In : Journal of Biological Chemistry. 273, 45, p. 29607-29614 8 p.

Research output: Contribution to journalArticle

Familiality of novel factorial dimensions of schizophrenia

McGrath, J. A., Avramopoulos, D., Lasseter, V. K., Wolyniec, P. S., Fallin, D. D., Liang, K. Y., Nestadt, G., Thornquist, M. H., Luke, J. R., Chen, P. L., Valle, D. & Pulver, A. E., Jun 2009, In : Archives of General Psychiatry. 66, 6, p. 591-600 10 p.

Research output: Contribution to journalArticle

Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A

Mealy, M. A., Nam, T. S., Pardo, S. J., Pardo-Villamizar, C. A., Sobreira, N., Avramopoulos, D., Valle, D., Burns, K. & Levy, M., Feb 1 2018, In : Neurology: Genetics. 4, 1, e213.

Research output: Contribution to journalArticle

Finding the missing heritability of complex diseases

Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., Cho, J. H., Guttmacher, A. E., Kong, A., Kruglyak, L., Mardis, E., Rotimi, C. N., Slatkin, M., Valle, D., Whittemore, A. S., Boehnke, M. & 7 others, Clark, A. G., Eichler, E. E., Gibson, G., Haines, J. L., MacKay, T. F. C., McCarroll, S. A. & Visscher, P. M., Oct 8 2009, In : Nature. 461, 7265, p. 747-753 7 p.

Research output: Contribution to journalArticle

Fine Mapping on Chromosome 10q22-q23 Implicates Neuregulin 3 in Schizophrenia

Chen, P. L., Avramopoulos, D., Lasseter, V. K., McGrath, J. A., Fallin, D. D., Liang, K. Y., Nestadt, G., Feng, N., Steel, G., Cutting, A. S., Wolyniec, P., Pulver, A. E. & Valle, D., Jan 9 2009, In : American Journal of Human Genetics. 84, 1, p. 21-34 14 p.

Research output: Contribution to journalArticle

From expressed sequence tags to peroxisome biogenesis disorder genes

Dodt, G., Braverman, N., Valle, D. & Gould, S. J., 1996, In : Annals of the New York Academy of Sciences. 804, p. 516-523 8 p.

Research output: Contribution to journalArticle

Functional consequences of PRODH missense mutations

Bender, H. U., Almashanu, S., Steel, G., Hu, C. A., Lin, W. W., Willis, A., Pulver, A. E. & Valle, D., Mar 2005, In : American Journal of Human Genetics. 76, 3, p. 409-420 12 p.

Research output: Contribution to journalArticle

Functional genomics and SNP analysis of human genes encoding proline metabolic enzymes

Hu, C. A. A., Bart Williams, D., Zhaorigetu, S., Khalil, S., Wan, G. & Valle, D., Nov 2008, In : Amino Acids. 35, 4, p. 655-664 10 p.

Research output: Contribution to journalArticle

Functional variants in DPYSL2 sequence increase risk of schizophrenia and suggest a link to mTOR signaling

Liu, Y., Pham, X., Zhang, L., Chen, P. L., Burzynski, G., McGaughey, D. M., He, S., McGrath, J. A., Wolyniec, P., Fallin, D. D., Pierce, M. S., McCallion, A. S., Pulver, A. E., Avramopoulos, D. & Valle, D., 2015, In : G3: Genes, Genomes, Genetics. 5, 1, p. 61-72 12 p.

Research output: Contribution to journalArticle

Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism

Mejias, R., Adamczyk, A., Anggono, V., Niranjan, T., Thomas, G. M., Sharma, K., Skinner, C., Schwartz, C. E., Stevenson, R. E., Fallin, D. D., Kaufmann, W., Pletnikov, M., Valle, D., Huganir, R. L. & Wang, T., Mar 22 2011, In : Proceedings of the National Academy of Sciences of the United States of America. 108, 12, p. 4920-4925 6 p.

Research output: Contribution to journalArticle

"genes to society"-The logic and process of the new curriculum for the Johns Hopkins University School of Medicine

Wiener, C. M., Thomas, P. A., Goodspeed, E., Valle, D. & Nichols, D. G., Mar 2010, In : Academic Medicine. 85, 3, p. 498-506 9 p.

Research output: Contribution to journalArticle

Genetic disease: An overview of current therapy

Valle, D., 1987, In : Hospital Practice. 22, 7, p. 167-182 16 p.

Research output: Contribution to journalArticle

Genetic evidence for a common enzyme catalyzing the second step in the degradation of proline and hydroxyproline.

Valle, D., Goodman, S. I., Harris, S. C. & Phang, J. M., Nov 1979, In : Journal of Clinical Investigation. 64, 5, p. 1365-1370 6 p.

Research output: Contribution to journalArticle

Genetics, biology and disease

Childs, B. & Valle, D., 2000, In : Annual Review of Genomics and Human Genetics. 1, 2000, p. 1-19 19 p.

Research output: Contribution to journalArticle

Genome-wide association study in obsessive-compulsive disorder: Results from the OCGAS

Mattheisen, M., Samuels, J., Wang, Y., Greenberg, B. D., Fyer, A. J., Mccracken, J. T., Geller, D. A., Murphy, D. L., Knowles, J. A., Grados, M., Riddle, M. A., Rasmussen, S. A., Mclaughlin, N. C., Nurmi, E. L., Askland, K. D., Qin, H. D., Cullen, B. A., Piacentini, J., Pauls, D. L., Bienvenu, O. J. & 9 others, Stewart, S. E., Liang, K. Y., Goes, F. S., Maher, B., Pulver, A. E., Shugart, Y. Y., Valle, D., Lange, C. & Nestadt, G., Mar 12 2015, In : Molecular Psychiatry. 20, 3, p. 337-344 8 p.

Research output: Contribution to journalArticle

Genomewide linkage scan for bipolar-disorder susceptibility loci among Ashkenazi Jewish families

Fallin, D. D., Lasseter, V. K., Wolyniec, P. S., McGrath, J. A., Nestadt, G., Valle, D., Liang, K. Y. & Pulver, A. E., Aug 2004, In : American Journal of Human Genetics. 75, 2, p. 204-219 16 p.

Research output: Contribution to journalArticle

Genomewide linkage scan for obsessive-compulsive disorder: Evidence for susceptibility loci on chromosomes 3q, 7p, 1q, 15q, and 6q

Shugart, Y. Y., Samuels, J., Willour, V. L., Grados, M., Greenberg, B. D., Knowles, J. A., McCracken, J. T., Rauch, S. L., Murphy, D. L., Wang, Y., Pinto, A., Fyer, A. J., Piacentini, J., Pauls, D. L., Cullen, B., Page, J., Rasmussen, S. A., Bienvenu, O. J., Hoehn-Saric, R., Valle, D. & 3 others, Liang, K. Y., Riddle, M. A. & Nestadt, G., Aug 16 2006, In : Molecular Psychiatry. 11, 8, p. 763-770 8 p.

Research output: Contribution to journalArticle

Genomewide linkage scan for schizophrenia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 10q22

Fallin, D. D., Lasseter, V. K., Wolyniec, P. S., McGrath, J. A., Nestadt, G., Valle, D., Liang, K. Y. & Pulver, A. E., Sep 1 2003, In : American Journal of Human Genetics. 73, 3, p. 601-611 11 p.

Research output: Contribution to journalArticle