David Valle

Professor

1971 …2020

Research output per year

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Research Output

Article

Glutaric acidemia type II. Comparison of pathologic features in two infants

Colevas, A. D., Edwards, J. L., Hruban, R. H., Mitchell, G. A., Valle, D. & Hutchins, G. M., 1988, In : Archives of Pathology and Laboratory Medicine. 112, 11, p. 1133-1139 7 p.

Research output: Contribution to journalArticle

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings

Ben-Salem, S., Sobreira, N., Akawi, N. A., Al-Shamsi, A. M., John, A., Pramathan, T., Valle, D., Ali, B. R. & Al-Gazali, L., Jan 1 2016, In : American Journal of Medical Genetics, Part A. 170, 1, p. 156-161 6 p.

Research output: Contribution to journalArticle

Guidelines for investigating causality of sequence variants in human disease

MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., Barrett, J. C., Biesecker, L. G., Conrad, D. F., Cooper, G. M., Cox, N. J., Daly, M. J., Gerstein, M. B., Goldstein, D. B., Hirschhorn, J. N., Leal, S. M. & 7 others, Pennacchio, L. A., Stamatoyannopoulos, J. A., Sunyaev, S. R., Valle, D., Voight, B. F., Winckler, W. & Gunter, C., 2014, In : Nature. 508, 7497, p. 469-476 8 p.

Research output: Contribution to journalArticle

Gyrate atrophy of the choroid and retina

Kaiser-Kupfer, M. I., Ludwig, I. H., de Monasterio, F. M., Valle, D. & Krieger, I., 1985, In : Ophthalmology. 92, 3, p. 394-401 8 p.

Research output: Contribution to journalArticle

Gyrate atrophy of the choroid and retina: Lymphocyte ornithine-δ- aminotransferase activity in different mutations and carriers

Heinänen, K., Näntö-Salonen, K., Leino, L., Pulkki, K., Heinonen, O., Valle, D. & Simell, O., Sep 1998, In : Pediatric Research. 44, 3, p. 381-385 5 p.

Research output: Contribution to journalArticle

Gyrate atrophy of the choroid and retina: Improved visual function following reduction of plasma ornithine by diet

Kaiser-Kupfer, M. I., De Monasterio, F. M., Valle, D., Walser, M. & Brusilow, S., 1980, In : Science. 210, 4474, p. 1128-1131 4 p.

Research output: Contribution to journalArticle

Gyrate atrophy of the choroid and retina: Further experience with long-term reduction of ornithine levels in children

Kaiser-Kupfer, M. I., Caruso, R. C. & Valle, D., 2002, In : Archives of Ophthalmology. 120, 2, p. 146-153 8 p.

Research output: Contribution to journalArticle

Gyrate atrophy of the choroid and retina: Deficiency of ornithine aminotransferase in transformed lymphocytes

Valle, D., Kaiser Kupfer, M. I. & Del Valle, L. A., 1977, In : Proceedings of the National Academy of Sciences of the United States of America. 74, 11, p. 5159-5161 3 p.

Research output: Contribution to journalArticle

Gyrate Atrophy of the Choroid and Retina: Long-term Reduction of Ornithine Slows Retinal Degeneration

Kaiser Kupfer, M. I., Caruso, R. C. & Valle, D., 1991, In : Archives of Ophthalmology. 109, 11, p. 1539-1548 10 p.

Research output: Contribution to journalArticle

Gyrate atrophy of the choroid and retina.

Valle, D. & Kaiser-Kupfer, M., 1982, In : Progress in Clinical and Biological Research. 82, p. 123-134 12 p.

Research output: Contribution to journalArticle

Gyrate atrophy of the choroid and retina. Amino acid metabolism and correction of hyperornithinemia with an arginine-deficient diet

Valle, D., Walser, M., Brusilow, S. W. & Kaiser-Kupfer, M., 1980, In : Journal of Clinical Investigation. 65, 2, p. 371-378 8 p.

Research output: Contribution to journalArticle

Gyrate atrophy of the choroid and retina. Biochemical considerations and experience with an arginine-restricted diet

Valle, D., Walser, M., Brusilow, S., Kaiser-Kupfer, M. I. & Takki, K., 1981, In : Ophthalmology. 88, 4, p. 325-330 6 p.

Research output: Contribution to journalArticle

Gyrate atrophy of the choroid and retina in a cat

Valle, D., Boison, A. P., Jezyk, P. & Aguirre, G., 1981, In : Investigative Ophthalmology and Visual Science. 20, 2, p. 251-255 5 p.

Research output: Contribution to journalArticle

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., 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. & Chang, Y. C., Jan 2012, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 159 B, 1, p. 53-60 8 p.

Research output: Contribution to journalArticle

Human disease genes

Jimenez-Sanchez, G., Childs, B. & Valle, D., Feb 15 2001, In : Nature. 409, 6822, p. 853-855 3 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., 1988, In : Journal of Biological Chemistry. 263, 28, p. 14288-14295 8 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., 1999, In : Nature Genetics. 22, 2, p. 151-158 8 p.

Research output: Contribution to journalArticle

Hyperornitinemia ja silmänpohjan pyörörappeuma: suomalaisen taudin taustalla ornitiiniaminotransferaasin geenivirhe.

Sipilä, I., Valle, D., Mitchell, G. A. & Brody, L. C., 1994, In : Duodecim. 110, 7, p. 681-686 6 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 PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders

Warren, D., 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

Telegrafi, A., Webb, B. D., Robbins, S. M., Speck-Martins, C. E., Fitzpatrick, D., Fleming, L., Redett, R., Dufke, A., Houge, G., van Harssel, J. J. T., Verloes, A., Robles, A., Manoli, I., Engle, E. C., Jabs, E. W., Valle, D., Carey, J., Hoover-Fong, J. E. & Sobreira, N. L. M., 2017, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

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

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

Research output: Contribution to journalArticle

Inborn errors of metabolism in the molecular age.

Valle, D. & Mitchell, G. A., 1988, In : Progress in medical genetics. 7, p. 100-129 30 p.

Research output: Contribution to journalArticle

Increased sensitivity of gyrate atrophy fibroblasts to ornithine toxicity

Valle, D., Boison, A. P. & Kaiser-Kupfer, M. I., 1979, In : Pediatric Research. 13, 4 II

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

Research output: Contribution to journalArticle

Insights into genetics, human biology and disease gleaned from family based genomic studies

Centers for Mendelian Genomics, Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

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., 1991, In : American Journal of Diseases of Children. 145, 1, p. 35-39 5 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 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, D. 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 2011, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 156, 2, p. 188-197 10 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 1998, In : Investigative Ophthalmology and Visual Science. 39, 11, p. 2085-2094 10 p.

Research output: Contribution to journalArticle