David Valle

Professor

1971 …2020

Research output per year

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Research Output

Article

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

Hoover Fong, J. E., Sobreira, N., Jurgens, J., Modaff, P., Blout, C., Moser, A. B., 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., 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

Mutations in the gene encoding 3β-hydroxysteroid-Δ87-isomerase cause X-linked dominant Conradi-Hunermann syndrome

Braverman, N., Lin, P., Moebius, F. F., Obie, C., Moser, A., Glossmann, H., Wilcox, W. R., Rimoin, D. L., Smith, M., Kratz, L., Kelley, R. I. & Valle, D., Jul 1 1999, In : Nature genetics. 22, 3, p. 291-294 4 p.

Research output: Contribution to journalArticle

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

Dodt, G., Braverman, N., Wong, C., Moser, A., Moser, H. W., Watkins, P., Valle, D. & Gould, S. J., Feb 1995, In : Nature genetics. 9, 2, p. 115-125 11 p.

Research output: Contribution to journalArticle

Mutations in the Δ1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia

Geraghty, M. T., Vaughn, D., Nicholson, A. J., Lin, W. W., Jimenez-Sanchez, G., Obie, C., Flynn, M. P., Valle, D. & Hu, C. A. A., Sep 1 1998, In : Human molecular genetics. 7, 9, p. 1411-1415 5 p.

Research output: Contribution to journalArticle

Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature

El Abiad, J. M., Robbins, S. M., Cohen, B., Levin, A. S., Valle, D. L., Morris, C. D. & de Macena Sobreira, N. L., Jan 1 2020, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

NEW PATHWAYS OF NITROGEN EXCRETION IN INBORN ERRORS OF UREA SYNTHESIS

Brusilow, S., Valle, D. & Batshaw, M., Sep 1 1979, In : The Lancet. 314, 8140, p. 452-454 3 p.

Research output: Contribution to journalArticle

Niemann-Pick Disease—Type C: Ocular Histopathologic and Electron Microscopic Studies

Palmer, M., Green, W. R., Maumenee, I. H., Valle, D. L., Singer, H. S., Morton, S. J. & Moser, H. W., Jun 1985, In : Archives of ophthalmology. 103, 6, p. 817-822 6 p.

Research output: Contribution to journalArticle

Nonketotic hyperglycinemia: Studies in an atypical variant

Singer, H., Valle, D., Hayasaka, K. & Tada, K., 1989, In : Neurology. 39, 2, p. 286-288 3 p.

Research output: Contribution to journalArticle

Novel deletion of SERPINF1 causes autosomal recessive osteogenesis imperfecta type VI in two Brazilian families

Minillo, R. M., Sobreira, N., De Fatima De Faria Soares, M., Jurgens, J., Ling, H., Hetrick, K. N., Doheny, K., Valle, D., Brunoni, D. & Perez, A. B. A., Dec 25 2014, In : Molecular Syndromology. 5, 6, p. 268-275 8 p.

Research output: Contribution to journalArticle

NVL: A new member of the AAA family of ATPases localized to the nucleus

Germain-Lee, E. L., Obie, C. & Valle, D., Aug 15 1997, In : Genomics. 44, 1, p. 22-34 13 p.

Research output: Contribution to journalArticle

Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria

Traboulsi, E. I., Silva, J. C., Geraghty, M. T., Maumenee, I. H., Valle, D. & Green, W. R., Jan 1 1992, In : American journal of ophthalmology. 113, 3, p. 269-280 12 p.

Research output: Contribution to journalArticle

Onlined Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

Hamosh, A., Scott, A. F., Amberger, J., Bocchini, C., Valle, D. & McKusick, V. A., Jan 1 2002, In : Nucleic acids research. 30, 1, p. 52-55 4 p.

Research output: Contribution to journalArticle

Online Mendelian Inheritance in Man (OMIM)

Hamosh, A., Scott, A. F., Amberger, J., Valle, D. & McKusick, V. A., 2000, In : Human Mutation. 15, 1, p. 57-61 5 p.

Research output: Contribution to journalArticle

Ornithine aminotransferase-related sequences map to two nonadjacent intervals on the human X chromosome short arm

Lafreniere, R. G., Geraghty, M. T., Valle, D., Shows, T. B. & Willard, H. F., 1991, In : Genomics. 10, 1, p. 276-279 4 p.

Research output: Contribution to journalArticle

Ornithine δ-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences

Brody, L. C., Mitchell, G. A., Obie, C., Michaud, J., Steel, G., Fontaine, G., Robert, M. F., Sipila, I., Kaiser-Kupfer, M. & Valle, D., Jan 1 1992, In : Journal of Biological Chemistry. 267, 5, p. 3302-3307 6 p.

Research output: Contribution to journalArticle

Overexpression of proline oxidase induces proline-dependent and mitochondria-mediated apoptosis

Hu, C. A., Donald, S. P., Yu, J., Lin, W. W., Liu, Z., Steel, G., Obie, C., Valle, D. & Phang, J. M., Jan 1 2007, In : Molecular and Cellular Biochemistry. 295, 1-2, p. 85-92 8 p.

Research output: Contribution to journalArticle

Partial trisomy 6q, due to balanced maternal translocation (6;22) (q21;p13) or (q21;pter)

Stamberg, J., Shapiro, J., Valle, D., Kuhajda, F. P., Thomas, G. & Wissow, L., May 15 1981, In : Clinical Genetics. 19, 2, p. 122-125 4 p.

Research output: Contribution to journalArticle

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

Sobreira, N., Brucato, M., Zhang, L., Ladd-Acosta, C. M., Ongaco, C., Romm, J., Doheny, K., Mingroni-Netto, R. C., Bertola, D., Kim, C. A., Perez, A. B., Melaragno, M. I., Valle, D., Meloni, V. A. & Bjornsson, H. T., Dec 1 2017, In : European Journal of Human Genetics. 25, 12, p. 1335-1344 10 p.

Research output: Contribution to journalArticle

Peroxisomal ABC transporters

Shani, N. & Valle, D., Jan 1 1998, In : Methods in enzymology. 292, p. 753-776 24 p.

Research output: Contribution to journalArticle

PEX11α is required for peroxisome proliferation in response to 4-phenylbutyrate but is dispensable for peroxisome proliferator-activated receptor alpha-mediated peroxisome proliferation

Li, X., Baumgart, E., Dong, G. X., Morrell, J. C., Jimenez-Sanchez, G., Valle, D., Smith, K. D. & Gould, S. J., Dec 1 2002, In : Molecular and cellular biology. 22, 23, p. 8226-8240 15 p.

Research output: Contribution to journalArticle

PEX11β deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function

Li, X., Baumgart, E., Morrell, J. C., Jimenez-Sanchez, G., Valle, D. & Gould, S. J., Jun 5 2002, In : Molecular and cellular biology. 22, 12, p. 4358-4365 8 p.

Research output: Contribution to journalArticle

PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter

Braverman, N., Steel, G., Lin, P., Moser, A., Moser, H. & Valle, D., Jan 15 2000, In : Genomics. 63, 2, p. 181-192 12 p.

Research output: Contribution to journalArticle

PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

Hamosh, A., Sobreira, N., Hoover-Fong, J., Sutton, V. R., Boehm, C., Schiettecatte, F. & Valle, D., Apr 1 2013, In : Human mutation. 34, 4, p. 566-571 6 p.

Research output: Contribution to journalArticle

Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase

Crane, A. M., Martin, L. S., Valle, D. & Ledley, F. D., May 1 1992, In : Human genetics. 89, 3, p. 259-264 6 p.

Research output: Contribution to journalArticle

Phenotypic variability in siblings with Farber disease

Antonarakis, S. E., Valle, D., Moser, H. W., Moser, A., Qualman, S. J. & Zinkham, W. H., Mar 1984, In : The Journal of pediatrics. 104, 3, p. 406-409 4 p.

Research output: Contribution to journalArticle

Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation

Hofman, K. J., Antonarakis, S. E., Missiou-Tsangaraki, S., Boehm, C. D. & Valle, D., Dec 1 1989, In : Molecular Biology and Medicine. 6, 3, p. 245-250 6 p.

Research output: Contribution to journalArticle

Phenylketonuria in U.S. blacks: Molecular analysis of the phenylalanine hydroxylase gene

Hofman, K. J., Steel, G., Kazazian, H. H. & Valle, D., Apr 23 1991, In : American journal of human genetics. 48, 4, p. 791-798 8 p.

Research output: Contribution to journalArticle

PHR1, a PH domain-containing protein expressed in primary sensory neurons

Xu, S., Wang, Y., Zhao, H., Zhang, L., Xiong, W., Yau, K. W., Hiel, H., Glowatzki, E., Ryugo, D. K. & Valle, D., Oct 1 2004, In : Molecular and cellular biology. 24, 20, p. 9137-9151 15 p.

Research output: Contribution to journalArticle

PHR1 encodes an abundant, pleckstrin homology domain-containing integral membrane protein in the photoreceptor outer segments

Xu, S., Ladak, R., Swanson, D. A., Soltyk, A., Sun, H., Ploder, L., Vidgen, D., Duncan, A. M. V., Garami, E., Valle, D. & McInnes, R. R., Dec 10 1999, In : Journal of Biological Chemistry. 274, 50, p. 35676-35685 10 p.

Research output: Contribution to journalArticle

PHR1 is a vesicle-bound protein abundantly expressed in mature olfactory neurons

Tan, B., Brown, D., Xu, S. & Valle, D., May 2010, In : Laryngoscope. 120, 5, p. 1002-1010 9 p.

Research output: Contribution to journalArticle

Polygenic risk score and heritability estimates reveals a genetic relationship between ASD and OCD

Guo, W., Samuels, J., Wang, Y., Cao, H., Ritter, M., Nestadt, P., Krasnow, J., 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., Cullen, B. A. & 12 others, Piacentini, J., Pauls, D. L., Bienvenu, O. J., Stewart, S. E., Goes, F. S., Maher, B., Pulver, A. E., Valle, D., Mattheisen, M., Qian, J., Nestadt, G. & Shugart, Y. Y., Jul 1 2017, In : European Neuropsychopharmacology. 27, 7, p. 657-666 10 p.

Research output: Contribution to journalArticle

PRODH variants and risk for schizophrenia

Willis, A., Bender, H. U., Steel, G. & Valle, D., Nov 2008, In : Amino Acids. 35, 4, p. 673-679 7 p.

Research output: Contribution to journalArticle

Proline biosynthesis: Multiple defects in Chinese hamster ovary cells

Valle, D., Downing, S. J., Harris, S. C. & Phang, J. M., Aug 21 1973, In : Biochemical and Biophysical Research Communications. 53, 4, p. 1130-1136 7 p.

Research output: Contribution to journalArticle

Proline biosynthesis and degradation in mammalian cells and tissue

Phang, J. M., Valle, D. & Kowaloff, E. M., Dec 1 1975, In : Annals of Clinical and Laboratory Science. 5, 4, p. 298-302 5 p.

Research output: Contribution to journalArticle

Proline inhibition of pyrroline-5-carboxylate reductase: Differences in enzymes obtained from animal and tissue culture sources

Valle, D., Downing, S. J. & Phang, J. M., Oct 15 1973, In : Biochemical and Biophysical Research Communications. 54, 4, p. 1418-1424 7 p.

Research output: Contribution to journalArticle

Proline oxidase, encoded by p53-induced gene-6, catalyzes the generation of proline-dependent reactive oxygen species

Donald, S. P., Sun, X. Y., Hu, C. A. A., Yu, J., Mei, J. M., Valle, D. & Phang, J. M., Mar 1 2001, In : Cancer Research. 61, 5, p. 1810-1815 6 p.

Research output: Contribution to journalArticle

Proline oxidase in cultured mammalian cells

Downing, S. J., Phang, J. M., Kowaloff, E. M., Valle, D. & Smith, R. J., 1977, In : Journal of Cellular Physiology. 91, 3, p. 369-376 8 p.

Research output: Contribution to journalArticle

Puromycin effect on amino acid transport: differential rates of carrier protein turnover

Phang, J. M., Valle, D. L., Fisher, L. & Granger, A., Jan 1 1975, In : American Journal of Physiology. 228, 1, p. 23-26 4 p.

Research output: Contribution to journalArticle

Pyridoxine-responsive gyrate atrophy of the choroid and retina: Clinical and biochemical correlates of the mutation A226V

Michaud, J., Thompson, G. N., Brody, L. C., Steel, G., Obie, C., Fontaine, G., Schappert, K., Keith, C. G., Valle, D. & Mitchell, G. A., 1995, In : American Journal of Human Genetics. 56, 3, p. 616-622 7 p.

Research output: Contribution to journalArticle

Rare plus common SERT variants in obsessive-compulsive disorder [3]

Grados, M., Samuels, J., Shugart, Y. Y., Willour, V. L., Wang, Y., Cullen, B., Bienvenu, O. J., Hoehn-Saric, R., Valle, D., Liang, K. Y., Riddle, M. A., Wendland, J. R., Murphy, D. L., Nestadt, G. & Detera-Wadleigh, S., May 2007, In : Molecular Psychiatry. 12, 5, p. 422-423 2 p.

Research output: Contribution to journalArticle

Recommendations for a nomenclature system for human gene mutations

Antonarakis, S. E., Ashburner, M., Auerbach, A. D., Beaudet, A. L., Beckmann, J. S., Beutler, E., Cooper, D. N., Cotton, R. G. H., Den Dunnen, J. T., Desnick, R. J., Eng, C., Fasman, K. H., Goldman, D., Hayashi, K., Hutchinson, F., Kazazian, H. H., Keen, J., King, M. C., Lehvaslaiho, H., McAlpine, P. J. & 11 others, McKusick, V., Motulski, A. G., Povey, S., Schorderet, D. F., Scriver, C. R., Shows, T. B., Supertifurga, A., Tay, A. H. N., Tsui, L. C., Valle, D. & Vihinen, M., Jan 1 1998, In : Human Mutation. 11, 1, p. 1-3 3 p.

Research output: Contribution to journalArticle

Recurrent 10q22-q23 deletions: A genomic disorder on 10q associated with cognitive and behavioral abnormalities

Balciuniene, J., Feng, N., Iyadurai, K., Hirsch, B., Charnas, L., Bill, B. R., Easterday, M. C., Staaf, J., Oseth, L. A., Czapansky-Beilman, D., Avramopoulos, D., Thomas, G. H., Borg, Å., Valle, D., Schimmenti, L. A. & Selleck, S. B., May 2007, In : American journal of human genetics. 80, 5, p. 938-947 10 p.

Research output: Contribution to journalArticle

Regulation of proline biosynthesis: The inhibition of pyrroline-5-carboxylate synthase activity by ornithine

Lodato, R. F., Smith, R. J., Valle, D., Phang, J. M. & Aoki, T. T., 1981, In : Metabolism. 30, 9, p. 908-913 6 p.

Research output: Contribution to journalArticle

Replication of an association of a common variant in the Reelin gene (RELN) with schizophrenia in Ashkenazi Jewish women

Liu, Y., Chen, P. L., McGrath, J., Wolyniec, P., Fallin, D. D., Nestadt, G., Liang, K. Y., Pulver, A. E., Valle, D. & Avramopoulos, D., Aug 2010, In : Psychiatric Genetics. 20, 4, p. 184-186 3 p.

Research output: Contribution to journalArticle