David Valle

Professor

1971 …2020

Research output per year

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Research Output

Article

Hemolytically inactive C4B complement allotype caused by a proline to leucine mutation in the C5-binding site

McLean, R. H., Niblack, G., Julian, B., Wang, T., Wyatt, R., Phillips, J. A., Collins, T. S., Winkelstein, J. & Valle, D., Nov 4 1994, In : Journal of Biological Chemistry. 269, 44, p. 27727-27731 5 p.

Research output: Contribution to journalArticle

Homeobox genes in obsessive-compulsive disorder

Nestadt, G., Wang, Y., Grados, M. A., Riddle, M. A., Greenberg, B. D., Knowles, J. A., Fyer, A. J., Mccracken, J. T., Rauch, S. L., Murphy, D. L., Rasmussen, S. A., Cullen, B., Piacentini, J., Geller, D., Pauls, D., Bienvenu, O. J., Chen, Y., Liang, K. Y., Goes, F. S., Maher, B. & 5 others, Pulver, A. E., Shugart, Y. Y., Valle, D., Samuels, J. F. & Chang, Y. C., Jan 1 2012, In : American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 159 B, 1, p. 53-60 8 p.

Research output: Contribution to journalArticle

Homocystinuria due to cystathionine β-synthase deficiency: Clinical manifestations and therapy

Valle, D., Pai, G. S., Thomas, G. H. & Pyeritz, R. E., Jan 1 1980, In : Johns Hopkins Medical Journal. 146, 3, p. 110-117 8 p.

Research output: Contribution to journalArticle

Human ornithine-δ-aminotransferase. cDNA cloning and analysis of the structural gene

Mitchell, G. A., Looney, J. E., Brody, L. C., Steel, G., Suchanek, M., Engelhardt, J. F., Willard, H. F. & Valle, D., Jan 1 1988, In : Journal of Biological Chemistry. 263, 28, p. 14288-14295 8 p.

Research output: Contribution to journalArticle

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J. & Valle, D., Apr 1 1997, In : Nature genetics. 15, 4, p. 369-376 8 p.

Research output: Contribution to journalArticle

Human Δ1-pyrroline-5-carboxylate synthase: Function and regulation

Hu, C. A. A., Khalil, S., Zhaorigetu, S., Liu, Z., Tyler, M., Wan, G. & Valle, D., Nov 1 2008, In : Amino Acids. 35, 4, p. 665-672 8 p.

Research output: Contribution to journalArticle

Hydroxocobalamin dose escalation improves metabolic control in cblC

Carrillo-Carrasco, N., Sloan, J., Valle, D., Hamosh, A. & Venditti, C. P., Dec 1 2009, In : Journal of Inherited Metabolic Disease. 32, 6, p. 728-731 4 p.

Research output: Contribution to journalArticle

Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: Neurologic, ophthalmologic, and neuropsychologic examination of six patients

Lemay, J. F., Lambert, M. A., Mitchell, G. A., Vanasse, M., Valle, D., Arbour, J. F., Dubé, J., Flessas, J., Laberge, M., Lafleur, L., Orquin, J., Qureshi, I. A. & Dery, R., Nov 1992, In : The Journal of pediatrics. 121, 5 PART 1, p. 725-730 6 p.

Research output: Contribution to journalArticle

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: A new inborn error caused by a mutationin in the gene encoding Δ1-pyrroline-5-carboxylate synthase

Baumgartner, M. R., Hu, C. A. A., Almashanu, S., Steel, G., Obie, C., Aral, B., Rabier, D., Kamoun, P., Saudubray, J. M. & Valle, D., Nov 22 2000, In : Human molecular genetics. 9, 19, p. 2853-2858 6 p.

Research output: Contribution to journalArticle

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

Camacho, J. A., Obie, C., Biery, B., Goodman, B. K., Hu, C. A., Almashanu, S., Steel, G., Casey, R., Lambert, M., Mitchell, G. A. & Valle, D., Jun 1999, In : Nature genetics. 22, 2, p. 151-158 8 p.

Research output: Contribution to journalArticle

Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release

Swanson, D. A., Steel, J. M. & Valle, D., Mar 15 1998, In : Genomics. 48, 3, p. 373-376 4 p.

Research output: Contribution to journalArticle

Identification of a fourth half ABC transporter in the human peroxisomal membrane

Shani, N., Jimenez-Sanchez, G., Steel, G., Dean, M. & Valle, D., Oct 1 1997, In : Human molecular genetics. 6, 11, p. 1925-1931 7 p.

Research output: Contribution to journalArticle

Identification of a yeast artificial chromosome (YAC) spanning the synovial sarcoma‐specific t(X;18)(p11.2;q11.2) breakpoint

De Leeuw, B., Berger, W., Sinke, R. J., Suijkerbuijk, R. F., Gilgenkrantz, S., Geraghty, M. T., Valle, D., Monaco, A. P., Lehrach, H., Ropers, H. H. & Van Kessel, A. G., Mar 1993, In : Genes, Chromosomes and Cancer. 6, 3, p. 182-189 8 p.

Research output: Contribution to journalArticle

Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders

Warren, D. S., Morrell, J. C., Moser, H. W., Valle, D. & Gould, S. J., Aug 1998, In : American journal of human genetics. 63, 2, p. 347-359 13 p.

Research output: Contribution to journalArticle

Identification of STAC3 variants in non-Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome

Moebius Syndrome Research Consortium, Oct 2017, In : American Journal of Medical Genetics, Part A. 173, 10, p. 2763-2771 9 p.

Research output: Contribution to journalArticle

Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration

Lumayag, S., Haldin, C. E., Corbett, N. J., Wahlin, K. J., Cowan, C., Turturro, S., Larsen, P. E., Kovacs, B., Witmer, P. D., Valle, D., Zack, D. J., Nicholson, D. A. & Xu, S., Feb 5 2013, In : Proceedings of the National Academy of Sciences of the United States of America. 110, 6, p. E507-E516

Research output: Contribution to journalArticle

Inborn Errors of Metabolism in Children Referred With Reye’s Syndrome: A Changing Pattern

Rowe, P. C., Valle, D. & Brusilow, S. W., Dec 2 1988, In : JAMA: The Journal of the American Medical Association. 260, 21, p. 3167-3170 4 p.

Research output: Contribution to journalArticle

Increased sensitivity of gyrate atrophy (GA) fibroblasts and cultured muscle cells to ornithine (ORN) toxicity

Valle, D., Askanas, V. & Kupfer, M. K., Jan 1 1980, In : Pediatric research. 14, 4 II, p. No. 616

Research output: Contribution to journalArticle

Increased sensitivity of gyrate atrophy fibroblasts to ornithine toxicity

Valle, D., Boison, A. P. & Kaiser-Kupfer, M. I., Jan 1 1979, In : Pediatric research. 13, 4 II, p. No. 606

Research output: Contribution to journalArticle

Increased sensitivity of lymphocyte Δ1pyrroline-5- carboxylate reductase to inhibition by proline with transformation

Valle, D., Blaese, R. M. & Phang, J. M., Dec 1 1975, In : Nature. 253, 5488, p. 214-216 3 p.

Research output: Contribution to journalArticle

Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene

Peddy, S. B., Vricella, L. A., Crosson, J. E., Oswald, G. L., Cohn, R. D., Cameron, D. E., Valle, D. & Loeys, B. L., May 1 2006, In : Pediatrics. 117, 5, p. 1830-1833 4 p.

Research output: Contribution to journalArticle

Intellectual Development in 12-Year-Old Children Treated for Phenylketonuria

Azen, C. G., Koch, R., Friedman, E. G., Berlow, S., Coldwell, J., Krause, W., Matalon, R., McCabe, E., O'Flynn, M., Peterson, R., Rouse, B., Scott, C. R., Sigman, B., Valle, D. & Warner, R., Jan 1991, In : American Journal of Diseases of Children. 145, 1, p. 35-39 5 p.

Research output: Contribution to journalArticle

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: Evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy

Baumgartner, M. R., Dantas, M. F., Suormala, T., Almashanu, S., Giunta, C., Friebel, D., Gebhardt, B., Fowler, B., Hoffmann, G. F., Baumgartner, E. R. & Valle, D., Nov 2004, In : American journal of human genetics. 75, 5, p. 790-800 11 p.

Research output: Contribution to journalArticle

Isolation and characterization of an ornithine aminotransferase-related sequence (oatl3) mapping to 10q26

Geraghty, M. T., Kearns, W. G., Pearson, P. L. & Valle, D., Aug 1993, In : Genomics. 17, 2, p. 510-513 4 p.

Research output: Contribution to journalArticle

Isolation and characterization of rat and human cDNAs encoding a novel putative peroxisomal enoyl-CoA hydratase

FitzPatrick, D. R., Germain-Lee, E. & Valle, D., Jun 10 1995, In : Genomics. 27, 3, p. 457-466 10 p.

Research output: Contribution to journalArticle

Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders

Chang, C. C., Lee, W. H., Moser, H., Valle, D. & Gould, S. J., Apr 1 1997, In : Nature genetics. 15, 4, p. 385-388 4 p.

Research output: Contribution to journalArticle

Linkage and association on 8p21.2-p21.1 in schizophrenia

Fallin, M. D., Lasseter, V. K., Liu, Y., Avramopoulos, D., McGrath, J., Wolyniec, P. S., Nestadt, G., Liang, K. Y., Chen, P. L., Valle, D. & Pulver, A. E., Mar 1 2011, In : American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 156, 2, p. 188-197 10 p.

Research output: Contribution to journalArticle

Localization of the 70-kda peroxisomal membrane protein to human 1p21-p22 and mouse 3

Gärtner, J., Kearns, W., Rosenberg, C., Pearson, P., Copeland, N. G., Gilbert, D. J., Jenkins, N. A. & Valle, D., Feb 1993, In : Genomics. 15, 2, p. 412-414 3 p.

Research output: Contribution to journalArticle

Making evolutionary biology a basic science for medicine

Nesse, R. M., Bergstrom, C. T., Ellison, P. T., Flier, J. S., Gluckman, P., Govindaraju, D. R., Niethammer, D., Omenn, G. S., Perlman, R. L., Schwartz, M. D., Thomas, M. G., Stearns, S. C. & Valle, D., Jan 26 2010, In : Proceedings of the National Academy of Sciences of the United States of America. 107, SUPPL. 1, p. 1800-1807 8 p.

Research output: Contribution to journalArticle

Mammalian orthologs of C. elegans unc-119 Highly expressed in photoreceptors

Swanson, D. A., Chang, J. T., Campochiaro, P. A., Zack, D. J. & Valle, D., Oct 1 1998, In : Investigative Ophthalmology and Visual Science. 39, 11, p. 2085-2094 10 p.

Research output: Contribution to journalArticle

Mannosidosis in an adult

Montgomery, T. R., Thomas, G. H. & Valle, D. L., Dec 1 1982, In : Johns Hopkins Medical Journal. 151, 3, p. 113-116 4 p.

Research output: Contribution to journalArticle

Mice lacking ornithine–δ–amino–transferase have paradoxical neonatal hypoornithinaemia and retinal degeneration

Wang, T., Lawler, A. M., Steel, G., Sipila, I., Milam, A. H. & Valle, D., Oct 1995, In : Nature genetics. 11, 2, p. 185-190 6 p.

Research output: Contribution to journalArticle

Microdeletions of 3q29 confer high risk for schizophrenia

Mulle, J. G., Dodd, A. F., McGrath, J. A., Wolyniec, P. S., Mitchell, A. A., Shetty, A. C., Sobreira, N. L., Valle, D., Rudd, M. K., Satten, G., Cutler, D. J., Pulver, A. E. & Warren, S. T., Aug 13 2010, In : American journal of human genetics. 87, 2, p. 229-236 8 p.

Research output: Contribution to journalArticle

MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA cluster

Xu, S., Witmer, P. D., Lumayag, S., Kovacs, B. & Valle, D., Aug 24 2007, In : Journal of Biological Chemistry. 282, 34, p. 25053-25066 14 p.

Research output: Contribution to journalArticle

miRNA mutations are not a common cause of deafness

Hildebrand, M. S., Witmer, P. D., Xu, S., Newton, S. S., Kahrizi, K., Najmabadi, H., Valle, D. & Smith, R. J. H., Mar 1 2010, In : American Journal of Medical Genetics, Part A. 152, 3, p. 646-652 7 p.

Research output: Contribution to journalArticle

Mobile interspersed repeats are major structural variants in the human genome

Huang, C. R. L., Schneider, A. M., Lu, Y., Niranjan, T., Shen, P., Robinson, M. A., Steranka, J. P., Valle, D., Civin, C. I., Wang, T., Wheelan, S. J., Ji, H., Boeke, J. D. & Burns, K. H., Jun 1 2010, In : Cell. 141, 7, p. 1171-1182 12 p.

Research output: Contribution to journalArticle

Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency

Ameratunga, R., Winkelstein, J. A., Brody, L., Binns, M., Cork, L. C., Colombani, P. & Valle, D., Mar 15 1998, In : Journal of Immunology. 160, 6, p. 2824-2830 7 p.

Research output: Contribution to journalArticle

Multiple variants aggregate in the neuregulin signaling pathway in a subset of schizophrenia patients

Hatzimanolis, A., McGrath, J. A., Wang, R., Li, T., Wong, P. C., Nestadt, G., Wolyniec, P. S., Valle, D., Pulver, A. E. & Avramopoulos, D., Jun 11 2013, In : Translational psychiatry. 3, e264.

Research output: Contribution to journalArticle

Mutant cell lines resistant to azetidine-2-carboxylic acid: Changes in the biosynthesis of proline from glutamic acid

Smith, R. J., Lodato, R. F. & Valle, D., Jan 1 1982, In : Federation Proceedings. 41, 4, p. No. 5236

Research output: Contribution to journalArticle

Mutant cell lines resistant to azetidine‐2‐carboxylic acid: Alterations in the synthesis of proline from glutamic acid

Lodato, R. F., Smith, R. J., Valle, D. L. & Crane, K., Apr 1984, In : Journal of Cellular Physiology. 119, 1, p. 137-143 7 p.

Research output: Contribution to journalArticle

Mutant cell lines resistant to azetidine carboxylic acid: Quantitative and qualitative differences in pyrroline-5-carboxylate synthase activity

Smith, R. J., Lodato, R. F., Valle, D. L. & Kazakis, A., Apr 15 1981, In : Biochemical and Biophysical Research Communications. 99, 3, p. 789-795 7 p.

Research output: Contribution to journalArticle

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P. K., Clarke, J. T. R., Boneh, A., Moser, A., Moser, H. & Valle, D., Oct 18 2002, In : Human mutation. 20, 4, p. 284-297 14 p.

Research output: Contribution to journalArticle

Mutation in the Gene Encoding the Stimulatory G Protein of Adenylate Cyclase in Albright's Hereditary Osteodystrophy

Patten, J. L., Johns, D. R., Valle, D., Eil, C., Gruppuso, P. A., Steele, G., Smallwood, P. M. & Levine, M. A., May 17 1990, In : New England Journal of Medicine. 322, 20, p. 1412-1419 8 p.

Research output: Contribution to journalArticle

Mutations in Alström protein impair terminal differentiation of cardiomyocytes

Shenje, L. T., Andersen, P., Halushka, M. K., Lui, C., Fernandez, L., Collin, G. B., Amat-Alarcon, N., Meschino, W., Cutz, E., Chang, K., Yonescu, R., Batista, D. A. S., Chen, Y., Chelko, S., Crosson, J. E., Scheel, J., Vricella, L., Craig, B. D., Marosy, B. A., Mohr, D. W. & 8 others, Hetrick, K. N., Romm, J. M., Scott, A. F., Valle, D., Naggert, J. K., Kwon, C., Doheny, K. F. & Judge, D. P., Mar 4 2014, In : Nature communications. 5, 3416.

Research output: Contribution to journalArticle

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

Wu, Y., Arai, A. C., Rumbaugh, G., Srivastava, A. K., Turner, G., Hayashi, T., Suzuki, E., Jiang, Y., Zhang, L., Rodriguez, J., Boyle, J., Tarpey, P., Raymond, F. L., Nevelsteen, J., Froyen, G., Stratton, M., Futreal, A., Gecz, J., Stevenson, R., Schwartz, C. E. & 3 others, Valle, D., Huganir, R. L. & Wang, T., Nov 13 2007, In : Proceedings of the National Academy of Sciences of the United States of America. 104, 46, p. 18163-18168 6 p.

Research output: Contribution to journalArticle

Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy

Hoover-Fong, J., Sobreira, N., Jurgens, J., Modaff, P., Blout, C., Moser, A., Kim, O. H., Cho, T. J., Cho, S. Y., Kim, S. J., Jin, D. K., Kitoh, H., Park, W. Y., Ling, H., Hetrick, K. N., Doheny, K. F., Valle, D. & Pauli, R. M., Jan 2 2014, In : American journal of human genetics. 94, 1, p. 105-112 8 p.

Research output: Contribution to journalArticle

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders

Reuber, B. E., Germain-Lee, E., Collins, C. S., Morrell, J. C., Ameritunga, R., Moser, H. W., Valle, D. & Gould, S. J., Jan 1 1997, In : Nature genetics. 17, 4, p. 445-448 4 p.

Research output: Contribution to journalArticle

Mutations in the 70K peroxisomal membrane protein gene in zellweger syndrome

Gärtner, J., Moser, H. & Valle, D., Apr 1992, In : Nature genetics. 1, 1, p. 16-23 8 p.

Research output: Contribution to journalArticle