David Valle

Professor

1971 …2020

Research output per year

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Research Output

Article

Selection against lethal alleles in females heterozygous for incontinentia pigmenti

Migeon, B. R., Axelman, J., De Beur, S. J., Valle, D., Mitchell, G. A. & Rosenbaum, K. N., Jan 1 1989, In : American journal of human genetics. 44, 1, p. 100-106 7 p.

Research output: Contribution to journalArticle

Significant linkage to compulsive hoarding on chromosome 14 in families with obsessive-compulsive disorder: Results from the OCD collaborative genetics study

Samuels, J., Yin, Y. S., Grados, M. A., Willour, V. L., Bienvenu, O. J., 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., Rasmussen, S. A., Hoehn-Saric, R., Valle, D., Liang, K. Y. & 2 others, Riddle, M. A. & Nestadt, G., Mar 2007, In : American Journal of Psychiatry. 164, 3, p. 493-499 7 p.

Research output: Contribution to journalArticle

Splice-mediated insertion of an Alu sequence inactivates ornithine aminotransferase: A role for Alu elements in human mutation

Mitchell, G. A., Labuda, D., Fontaine, G., Saudubray, J. M., Bonnefont, E. P., Lyonne, S., Brody, L. C., Steel, G., Obie, C. & Valle, D., Jan 1 1991, In : Proceedings of the National Academy of Sciences of the United States of America. 88, 3, p. 815-819 5 p.

Research output: Contribution to journalArticle

Open Access

Stage II follow-up on a linkage scan for bipolar disorder in the Ashkenazim provides suggestive evidence for chromosome 12p and the GRIN2B gene

Avramopoulos, D., Lasseter, V. K., Fallin, M. D., Wolyniec, P. S., McGrath, J. A., Nestadt, G., Valle, D. & Pulver, A. E., Nov 1 2007, In : Genetics in Medicine. 9, 11, p. 745-751 7 p.

Research output: Contribution to journalArticle

Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene

Michaud, J., Brody, L. C., Steel, G., Fontaine, G., Martin, L. S., Valle, D. & Mitchell, G., Jun 1992, In : Genomics. 13, 2, p. 389-394 6 p.

Research output: Contribution to journalArticle

SynaptomeDB: An ontology-based knowledgebase for synaptic genes

Pirooznia, M., Wang, T., Avramopoulos, D., Valle, D., Thomas, G., Huganir, R. L., Goes, F. S., Potash, J. B. & Zandi, P. P., Mar 1 2012, In : Bioinformatics. 28, 6, p. 897-899 3 p., bts040.

Research output: Contribution to journalArticle

Syndromes due to chromosomal abnormalities: Partial trisomy 22, interstitial deletion of the long arm of 13, and trisomy 8

Pai, G. S., Thomas, G. H., Leonard, C. O., Ward, J. C., Valle, D. L. & Pyeritz, R. E., Dec 1 1979, In : Johns Hopkins Medical Journal. 145, 4, p. 162-169 8 p.

Research output: Contribution to journalArticle

Taurine (TAU) transport in cultured human fibroblasts from normals and patients with retinitis pigmentosa (RP)

Tanaka, Y., Valle, D. L. & Maumenee, I. H., Jan 1 1980, In : Investigative Ophthalmology and Visual Science. 19, Suppl. 4, 1 p.

Research output: Contribution to journalArticle

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Japan Early Onset Scoliosis Research Group & Baylor-Hopkins Center for Mendelian Genomics, Jul 1 2019, In : Genetics in Medicine. 21, 7, p. 1548-1558 11 p.

Research output: Contribution to journalArticle

The aqueous humor of rabbit contains high concentrations of pyrroline-5-carboxylate

Fleming, G. A., Steel, G., Valle, D., Granger, A. S. & Phang, J. M., Oct 1986, In : Metabolism. 35, 10, p. 933-937 5 p.

Research output: Contribution to journalArticle

The DPYSL2 gene connects mTOR and schizophrenia

Pham, X., Song, G., Lao, S., Goff, L., Zhu, H., Valle, D. & Avramopoulos, D., Nov 1 2016, In : Translational Psychiatry. 6, 11, e933.

Research output: Contribution to journalArticle

The Genome Project–Write

Boeke, J. D., Church, G., Hessel, A., Kelley, N. J., Arkin, A., Cai, Y., Carlson, R., Chakravarti, A., Cornish, V. W., Holt, L., Isaacs, F. J., Kuiken, T., Lajoie, M., Lessor, T., Lunshof, J., Maurano, M. T., Mitchell, L. A., Rine, J., Rosser, S., Sanjana, N. E. & 5 others, Silver, P. A., Valle, D., Wang, H., Way, J. C. & Yang, L., Jun 2 2016, (Accepted/In press) In : Science. p. 1-3 3 p.

Research output: Contribution to journalArticle

The human disease network

Goh, K. I., Cusick, M. E., Valle, D., Childs, B., Vidal, M. & Barabási, A. L., May 22 2007, In : Proceedings of the National Academy of Sciences of the United States of America. 104, 21, p. 8685-8690 6 p.

Research output: Contribution to journalArticle

The international HapMap project

Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Yang, H., Ch'Ang, L. Y., Huang, W., Liu, B., Shen, Y., Tam, P. K. H., Tsui, L. C., Waye, M. M. Y., Wong, J. T. F., Zeng, C., Zhang, Q., Chee, M. S., Galver, L. M., Kruglyak, S., Murray, S. S., Oliphant, A. R. & 124 others, Montpetit, A., Chagnon, F., Ferretti, V., Leboeuf, M., Phillips, M. S., Verner, A., Duan, S., Lind, D. L., Miller, R. D., Rice, J., Saccone, N. L., Taillon-Miller, P., Xiao, M., Sekine, A., Sorimachi, K., Tanaka, Y., Tsunoda, T., Yoshino, E., Bentley, D. R., Hunt, S., Powell, D., Zhang, H., Matsuda, I., Fukushima, Y., Macer, D. R., Suda, E., Rotimi, C., Adebamowo, C. A., Aniagwu, T., Marshall, P. A., Matthew, O., Nkwodimmah, C., Royal, C. D. M., Leppert, M. F., Dixon, M., Cunningham, F., Kanani, A., Thorisson, G. A., Chen, P. E., Cutler, D. J., Kashuk, C. S., Donnelly, P., Marchini, J., McVean, G. A. T., Myers, S. R., Cardon, L. R., Morris, A., Weir, B. S., Mullikin, J. C., Feolo, M., Daly, M. J., Qiu, R., Kent, A., Dunston, G. M., Kato, K., Niikawa, N., Watkin, J., Gibbs, R. A., Sodergren, E., Weinstock, G. M., Wilson, R. K., Fulton, L. L., Rogers, J., Birren, B. W., Han, H., Wang, H., Godbout, M., Wallenburg, J. C., L'Archevêque, P., Bellemare, G., Todani, K., Fujita, T., Tanaka, S., Holden, A. L., Collins, F. S., Brooks, L. D., McEwen, J. E., Guyer, M. S., Jordan, E., Peterson, J. L., Spiegel, J., Sung, L. M., Zacharia, L. F., Kennedy, K., Dunn, M. G., Seabrook, R., Shillito, M., Skene, B., Stewart, J. G., Valle, D. L., Clayton, E. W., Jorde, L. B., Chakravarti, A., Cho, M. K., Duster, T., Foster, M. W., Jasperse, M., Knoppers, B. M., Kwok, P. Y., Licinio, J., Long, J. C., Ossorio, P., Wang, V. O., Rotimi, C. N., Spallone, P., Terry, S. F., Lander, E. S., Lai, E. H., Nickerson, D. A., Abecasis, G. R., Altshuler, D., Boehnke, M., Deloukas, P., Douglas, J. A., Gabriel, S. B., Hudson, R. R., Hudson, T. J., Kruglyak, L., Nakamura, Y., Nussbaum, R. L., Schaffner, S. F., Sherry, S. T., Stein, L. D. & Tanaka, T., Dec 18 2003, In : Nature. 426, 6968, p. 789-796 8 p.

Research output: Contribution to journalArticle

The Isolation of cDNAs from OATL1 at Xp11.2 Using a 480-kb YAC

Geraghty, M. T., Brody, L. C., Martin, L. S., Marble, M., Kearns, W., Pearson, P., Monaco, A. P., Lehrach, H. & Valle, D., May 1993, In : Genomics. 16, 2, p. 440-446 7 p.

Research output: Contribution to journalArticle

The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Pipitone, A., Raval, D. B., Duis, J., Vernon, H. J., Martin, R., Hamosh, A., Valle, D. & Gunay-Aygun, M., 2016, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

Baumgartner, M. R., Almashanu, S., Suormala, T., Obie, C., Cole, R. N., Packman, S., Baumgartner, E. R. & Valle, D., Jan 1 2001, In : Journal of Clinical Investigation. 107, 4, p. 495-504 10 p.

Research output: Contribution to journalArticle

Open Access

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor

Yahraus, T., Braverman, N., Dodt, G., Kalish, J. E., Morrell, J. C., Moser, H. W., Valle, D. & Gould, S. J., Jul 2 1996, In : EMBO Journal. 15, 12, p. 2914-2923 10 p.

Research output: Contribution to journalArticle

Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria

Bartholomew, D. W., Batshaw, M. L., Allen, R. H., Roe, C. R., Rosenblatt, D., Valle, D. L. & Francomano, C. A., Jan 1988, In : The Journal of pediatrics. 112, 1, p. 32-39 8 p.

Research output: Contribution to journalArticle

The skipping of constitutive exons in vivo induced by nonsense mutations

Dietz, H. C., Valle, D., Francomano, C. A., Kendzior, R. J., Pyeritz, R. E. & Cutting, G. R., Jan 29 1993, In : Science. 259, 5095, p. 680-683 4 p.

Research output: Contribution to journalArticle

The stiff skin syndrome: new genetic and biochemical investigations

Singer, H., Valle, D., Rogers, J. & Thomas, G., Jan 1 1977, In : Birth Defects: Original Article Series. 13, 3 B, p. 254-255 2 p.

Research output: Contribution to journalArticle

The utility of exome sequencing for fetal pleural effusions

Jelin, A. C., Sobreira, N., Wohler, E., Solomon, B., Sparks, T., Sagaser, K. G., Forster, K. R., Miller, J., Witmer, P. D., Hamosh, A., Valle, D. & Blakemore, K., Apr 1 2020, In : Prenatal Diagnosis. 40, 5, p. 590-595 6 p.

Research output: Contribution to journalArticle

Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel

Umanah, G. K. E., Pignatelli, M., Yin, X., Chen, R., Crawford, J., Neifert, S., Scarffe, L., Behensky, A. A., Guiberson, N., Chang, M., Ma, E., Kim, J. W., Castro, C. C., Mao, X., Chen, L., Andrabi, S. A., Pletnikov, M. V., Pulver, A. E., Avramopoulos, D., Bonci, A. & 3 others, Valle, D., Dawson, T. M. & Dawson, V. L., Dec 13 2017, In : Science translational medicine. 9, 420, aah4985.

Research output: Contribution to journalArticle

Transcriptional analysis of the human ornithine aminotransferase promoter

Engelhardt, J. F., Steel, G. & Valle, D., Feb 19 1991, In : Journal of Biological Chemistry. 266, 2, p. 752-758 7 p.

Research output: Contribution to journalArticle

Transcriptional regulation of the gene for the second component of human complement: Promoter analysis

Sullivan, K. E., Valle, D., Winkelstein, J. A., Wu, LC. C. & Campbell, R. D., Feb 1994, In : European Journal of Immunology. 24, 2, p. 393-400 8 p.

Research output: Contribution to journalArticle

Treatment of alanine induced hyperammonemia with benzoate or phenylacetate in lysinuric protein intolerance (LPI)

Simell, O., Rajantie, J. & Valle, D., Jan 1 1982, In : Pediatric research. 16, 8, p. No. 40

Research output: Contribution to journalArticle

Treatment of genetic disease: Current status and prospects for the future

Valle, D., Feb 1991, In : Seminars in Perinatology. 15, 1 SUPPL. 1, p. 52-56 5 p.

Research output: Contribution to journalArticle

Type 2 hyperprolinemia: Absence of Δ1-pyrroline-5- carboxylic acid dehydrogenase activity

Valle, D. L., Phang, J. M. & Goodman, S. I., Jan 1 1974, In : Science. 185, 4156, p. 1053-1054 2 p.

Research output: Contribution to journalArticle

Type I hyperprolinemia: Genotype/phenotype correlations

Guilmatre, A., Legallic, S., Steel, G., Willis, A., Di Rosa, G., Goldenberg, A., Drouin-Garraud, V., Guet, A., Mignot, C., Des Portes, V., Valayannopoulos, V., Van Maldergem, L., Hoffman, J. D., Izzi, C., Espil-Taris, C., Orcesi, S., Bonafé, L., Le Galloudec, E., Maurey, H., Ioos, C. & 7 others, Afenjar, A., Blanchet, P., Echenne, B., Roubertie, A., Frebourg, T., Valle, D. & Campion, D., Aug 1 2010, In : Human mutation. 31, 8, p. 961-965 5 p.

Research output: Contribution to journalArticle

Type II hyperprolinemia. Δ1 Pyrroline 5 carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes

Valle, D., Goodman, S. I., Applegarth, D. A., Shih, V. E. & Phang, J. M., Jan 1 1976, In : Unknown Journal. 58, 3, p. 598-603 6 p.

Research output: Contribution to journalArticle

Open Access

Unsuccessful treatment of phenylketonuria with tyrosine

Batshaw, M. L., Valle, D. & Bessman, S. P., Jul 1981, In : The Journal of pediatrics. 99, 1, p. 159-160 2 p.

Research output: Contribution to journalArticle

Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophy

Kaiser-Kupfer, M. I., Caruso, R. C., Valle, D. & Reed, G. F., Jul 1 2004, In : Archives of ophthalmology. 122, 7, p. 982-984 3 p.

Research output: Contribution to journalArticle

Visual Results of a Long-Term Trial of a Low-Arginine Diet in Gyrate Atrophy of Choroid and Retina

Kaiser-Kupfer, M. I., de Monasterio, F., Valle, D., Walser, M. & Brusilow, S., Jan 1 1981, In : Ophthalmology. 88, 4, p. 307-310 4 p.

Research output: Contribution to journalArticle

Waste nitrogen excretion via amino acid acylation: Benzoate and phenylacetate in lysinuric protein intolerance

Simell, O., Sipila, I., Rajantie, J., Valle, D. L. & Brusilow, S. W., Nov 1986, In : Pediatric research. 20, 11, p. 1117-1121 5 p.

Research output: Contribution to journalArticle

Open Access

Whole-genome association analysis of treatment response in obsessive-compulsive disorder

Qin, H., Samuels, J. F., Wang, Y., Zhu, Y., Grados, M. A., Riddle, M. A., Greenberg, B. D., Knowles, J. A., Fyer, A. J., McCracken, J. T., Murphy, D. L., Rasmussen, S. A., Cullen, B. A., Piacentini, J., Geller, D., Stewart, S. E., Pauls, D., Bienvenu, O. J., Goes, F. S., Maher, B. & 10 others, Pulver, A. E., Valle, D., Lange, C., Mattheisen, M., McLaughlin, N. C., Liang, K. Y., Nurmi, E. L., Askland, K. D., Nestadt, G. & Shugart, Y. Y., Feb 1 2016, In : Molecular psychiatry. 21, 2, p. 270-276 7 p.

Research output: Contribution to journalArticle

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

Sobreira, N. L. M., Cirulli, E. T., Avramopoulos, D., Wohler, E., Oswald, G. L., Stevens, E. L., Ge, D., Shianna, K. V., Smith, J. P., Maia, J. M., Gumbs, C. E., Pevsner, J., Thomas, G., Valle, D., Hoover-Fong, J. E. & Goldstein, D. B., Jun 1 2010, In : PLoS genetics. 6, 6, p. 1-6 6 p.

Research output: Contribution to journalArticle

X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation

Zhang, L., Jie, C., Obie, C., Abidi, F., Schwartz, C. E., Stevenson, R. E., Valle, D. & Wang, T., May 1 2007, In : Genome research. 17, 5, p. 641-648 8 p.

Research output: Contribution to journalArticle

Δ1-pyrroline-5-carboxylate synthase deficiency: Neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

Baumgartner, M. R., Rabier, D., Nassogne, M. C., Dufier, J. L., Padovani, J. P., Kamoun, P., Valle, D. & Saudubray, J. M., Jan 1 2005, In : European Journal of Pediatrics. 164, 1, p. 31-36 6 p.

Research output: Contribution to journalArticle

Δ3,52,4-dienoyl-CoA isomerase from rat liver. Molecular characterization

Filppula, S. A., Yagi, A. I., Kilpeläinen, S. H., Novikov, D., FitzPatrick, D. R., Vihinen, M., Valle, D. & Hiltunen, J. K., Jan 2 1998, In : Journal of Biological Chemistry. 273, 1, p. 349-355 7 p.

Research output: Contribution to journalArticle