David Valle

Professor

1971 …2020

Research output per year

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Research Output

Cataract in gyrate atrophy: Clinical and morphologic studies

Kaiser-Kupfer, M., Kuwabara, T., Uga, S., Takki, K. & Valle, D., Jul 21 1983, In : Investigative Ophthalmology and Visual Science. 24, 4, p. 432-436 5 p.

Research output: Contribution to journalArticle

Cervical stenosis secondary to rhizomelic chondrodysplasia punctata

Khanna, A. J., Braverman, N. E., Valle, D. & Sponseller, P. D., Feb 15 2001, In : American journal of medical genetics. 99, 1, p. 63-66 4 p.

Research output: Contribution to journalArticle

Characterization and analysis of conserved motifs in a peroxisomal ATP-binding cassette transporter

Shani, N., Sapag, A. & Valle, D., Apr 12 1996, In : Journal of Biological Chemistry. 271, 15, p. 8725-8730 6 p.

Research output: Contribution to journalArticle

Open Access

Characterization of a cDNA library enriched for a novel peroxisomal gene

Fitzpatrick, D. R., Jimenez-Sanchez, G., Germain-Lee, E. & Valle, D., Jan 1 1996, In : Annals of the New York Academy of Sciences. 804, p. 739-741 3 p.

Research output: Contribution to journalArticle

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing

Sobreira, N. L. M., Gnanakkan, V., Walsh, M., Marosy, B., Wohler, E., Thomas, G., Hoover-Fong, J. E., Hamosh, A., Wheelan, S. J. & Valle, D., Oct 1 2011, In : Genome research. 21, 10, p. 1720-1727 8 p.

Research output: Contribution to journalArticle

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

Stanley, C. A., DeLeeuw, S., Coates, P. M., Vianey‐Liaud, C., Divry, P., Bonnefont, JP. P., Saudubray, JM. M., Haymond, M., Trefz, F. K., Breningstall, G. N., Wappner, R. S., Byrd, D. J., Sansaricq, C., Tein, I., Grover, W., Valle, D., Rutledge, S. L. & Treem, W. R., Nov 1991, In : Annals of neurology. 30, 5, p. 709-716 8 p.

Research output: Contribution to journalArticle

Clinical, biochemical, and therapeutic aspects of gyrate atrophy

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

Research output: Contribution to journalReview article

Clinical and biochemical heterogeneity in gyrate atrophy

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

Research output: Contribution to journalArticle

Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: Studies of lysosomal storage diseases and channelopathy

Kano, S., Yuan, M., Cardarelli, R. A., Maegawa, G., Higurashi, N., Gaval-Cruz, M., Wilson, A. M., Tristan, C., Kondo, M. A., Chen, Y., Koga, M., Obie, C., Ishizuka, K., Seshadri, S., Srivastava, R., Kato, T. A., Horiuchi, Y., Sedlak, T. W., Lee, Y., Rapoport, J. L. & 6 others, Hirose, S., Okano, H., Valle, D., O’Donnell, P., Sawa, A. & Kai, M., Jan 1 2015, In : Current Molecular Medicine. 15, 2, p. 138-145 8 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

Open Access

Cloning human pyrroline-5-carboxylate reductase cDNA by complementation in Saccharomyces cerevisiae

Dougherty, K. M., Brandriss, M. C. & Valle, D., Jan 1 1992, In : Journal of Biological Chemistry. 267, 2, p. 871-875 5 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, 1 p.

Research output: Contribution to journalLetter

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., Jun 1992, In : The Journal of pediatrics. 120, 6, p. 934-937 4 p.

Research output: Contribution to journalArticle

Open Access

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., Jul 1988, In : The 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

Cultured muscle fibers of gyrate atrophy (GA) patients: Tubules, ornithine toxicity, and 1-ornithine-2-oxoacid aminotransferase (OAT) deficiency

Askanas, V., Valle, D. & Kaiser-Kupfer, M. I., Jan 1 1980, In : Neurology. 30, 4, p. NMD4

Research output: Contribution to journalArticle

Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy

Ben-Salem, S., Robbins, S. M., Lm Sobreira, N., Lyon, A., Al-Shamsi, A. M., Islam, B. K., Akawi, N. A., John, A., Thachillath, P., Al Hamed, S., Valle, D., Ali, B. R. & Al-Gazali, L., Feb 1 2018, In : Journal of medical genetics. 55, 2, p. 122-130 9 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

Depakene (VPA) induced hyperammonemia (HA)

Batshaw, M. L., Valle, D. & Brusilow, S. W., Jan 1 1981, In : Pediatric research. 15, 4 II, p. No. 1559

Research output: Contribution to journalArticle

Detection of SNP-SNP interactions in trios of parents with schizophrenic children

Li, Q., Fallin, M. D., Louis, T. A., Lasseter, V. K., McGrath, J. A., Avramopoulos, D., Wolyniec, P. S., Valle, D., Liang, K. Y., Pulver, A. E. & Ruczinski, I., Jul 1 2010, In : Genetic epidemiology. 34, 5, p. 396-406 11 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., Jul 1992, In : The Journal of pediatrics. 121, 1, p. 131-135 5 p.

Research output: Contribution to journalArticle

Disorders of ornithine metabolism

Baumgartner, M. R. & Valle, D., Jan 1 2012, Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Berlin Heidelberg, p. 323-332 10 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Disorders of peroxisome biogenesis

Braverman, N., Dodt, G., Gould, S. J. & Valle, D., Jan 1 1995, In : Human molecular genetics. 4, REV. ISS., p. 1791-1798 8 p.

Research output: Contribution to journalReview article

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. 1290-1294 5 p.

Research output: Contribution to journalArticle

Open Access

Early manifestations of multiple sulfatase deficiency

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

Research output: Contribution to journalArticle

Effects of arginine-free meals on ureagenesis in cats

Stewart, P. M., Batshaw, M., Valle, D. & Walser, M., Jan 1 1981, In : American Journal of Physiology - Endocrinology and Metabolism. 4, 4, p. 310-315 6 p.

Research output: Contribution to journalArticle

Enhanced conversion of induced neuronal cells (iN cells) from human fibroblasts: Utility in uncovering cellular deficits in mental illness-associated chromosomal abnormalities

Passeri, E., Wilson, A. M., Primerano, A., Kondo, M. A., Sengupta, S., Srivastava, R., Koga, M., Obie, C., Zandi, P. P., Goes, F. S., Valle, D., Rapoport, J. L., Sawa, A., Kano, S. I. & Ishizuka, K., Dec 2015, In : Neuroscience Research. 101, p. 57-61 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., Dec 1 1997, In : Mammalian Genome. 8, 2, 1 p.

Research output: Contribution to journalComment/debate

Expression and processing of human ornithine-δ-aminotransferase in Saccharomyces cerevisiae

Dougherty, K. M., Swanson, D. A., Brody, L. C. & Valle, D., Nov 1 1993, In : Human molecular genetics. 2, 11, p. 1835-1840 6 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, M. D., Liang, K. Y., Nestadt, G., Thornquist, M. H., Luke, J. R., Chen, P. L., Valle, D. & Pulver, A. E., Jun 1 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, C. A., Sobreira, N. L., Avramopoulos, D., Valle, D., Burns, K. H. & Levy, M., Feb 1 2018, In : Neurology: Genetics. 4, 1, e213.

Research output: Contribution to journalArticle

Farber disease: pathologic diagnosis in sibs with phenotypic variability.

Qualman, S. J., Moser, H. W., Valle, D., Moser, A. E., Antonarakis, S. E., Boitnott, J. K. & Zinkham, W. H., 1987, In : American journal of medical genetics. Supplement. 3, p. 233-241 9 p.

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 journalReview article

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

Chen, P. L., Avramopoulos, D., Lasseter, V. K., McGrath, J. A., Fallin, M. 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., Jan 1 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. & 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 1 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, M. 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, M. 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

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Sobreira, N., Schiettecatte, F., Valle, D. & Hamosh, A., Oct 1 2015, In : Human mutation. 36, 10, p. 928-930 3 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 diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes

Robbins, S. M., Thimm, M. A., Valle, D. & Jelin, A. C., Aug 15 2019, In : Journal of Assisted Reproduction and Genetics. 36, 8, p. 1539-1548 10 p.

Research output: Contribution to journalReview article

Genetic disease: An overview of current therapy

Valle, D., Jan 1 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 : The Journal of clinical investigation. 64, 5, p. 1365-1370 6 p.

Research output: Contribution to journalArticle

Open Access