David Valle

Professor

1971 …2020

Research output per year

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Research Output

Implementing genomic medicine in the clinic: The future is here

Manolio, T. A., Chisholm, R. L., Ozenberger, B., Roden, D. M., Williams, M. S., Wilson, R., Bick, D., Bottinger, E. P., Brilliant, M. H., Eng, C., Frazer, K. A., Korf, B., Ledbetter, D. H., Lupski, J. R., Marsh, C., Mrazek, D., Murray, M. F., O'Donnell, P. H., Rader, D. J., Relling, M. V. & 5 others, Shuldiner, A. R., Valle, D., Weinshilboum, R., Green, E. D. & Ginsburg, G. S., Apr 1 2013, In : Genetics in Medicine. 15, 4, p. 258-267 10 p.

Research output: Contribution to journalReview article

Implementing genomic medicine in the clinic: The future is here

Manolio, T. A., Chisholm, R. L., Ozenberger, B., Roden, D. M., Williams, M. S., Wilson, R., Bick, D., Bottinger, E. P., Brilliant, M. H., Eng, C., Frazer, K. A., Korf, B., Ledbetter, D. H., Lupski, J. R., Marsh, C., Mrazek, D., Murray, M. F., O'Donnell, P. H., Rader, D. J., Relling, M. V. & 5 others, Shuldiner, A. R., Valle, D., Weinshilboum, R., Green, E. D. & Ginsburg, G. S., Sep 1 2013, In : Obstetrical and Gynecological Survey. 68, 9, p. 621-623 3 p.

Research output: Contribution to journalComment/debate

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

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 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 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 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

Hyperornitinemia ja silmänpohjan pyörörappeuma: suomalaisen taudin taustalla ornitiiniaminotransferaasin geenivirhe.

Translated title of the contribution: Hyperornithinemia and gyrate atrophy: ornithine aminotransferase gene error causing a Finnish diseaseSipilä, I., Valle, D., Mitchell, G. A. & Brody, L. C., 1994, In : Duodecim; lääketieteellinen aikakauskirja. 110, 7, p. 681-686 6 p.

Research output: Contribution to journalReview article

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

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

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

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

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 2008, In : Amino Acids. 35, 4, p. 665-672 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 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 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 journalReview article

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

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

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

Harland Sanders Award Statement.

Valle, D., Jan 1 1999, In : Genetics in medicine : official journal of the American College of Medical Genetics. 1, 5, p. 219-223 5 p.

Research output: Contribution to journalArticle

Gyrate atrophy of the choroid and retina in a cat

Valle, D. L., Boison, A. P., Jezyk, P. & Aguirre, G., Jan 1 1981, In : Investigative Ophthalmology and Visual Science. 20, 2, p. 251-255 5 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

Open Access

Gyrate atrophy of the choroid and retina.

Valle, D. & Kaiser-Kupfer, M., Jan 1 1982, In : Progress in clinical and biological research. 82, p. 123-134 12 p.

Research output: Contribution to journalReview article

Gyrate Atrophy of the Choroid and Retina: Early Findings

Kaiser-Kupfer, M. I., Ludwig, I. H., de Monasterio, F. M., Valle, D. & Krieger, I., Jan 1 1985, In : Ophthalmology. 92, 3, p. 394-401 8 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., Nov 1991, In : Archives of ophthalmology. 109, 11, p. 1539-1548 10 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., Jan 1 1981, In : Ophthalmology. 88, 4, p. 325-330 6 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

Open Access

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

Valle, D., Kaiser Kupfer, M. I. & Del Valle, L. A., Jan 1 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

Open Access

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., Jan 1 2002, In : Archives of ophthalmology. 120, 2, p. 146-153 8 p.

Research output: Contribution to journalArticle

Open Access

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., Jan 1 1980, In : Science. 210, 4474, p. 1128-1131 4 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., Jan 1 2014, In : Nature. 508, 7497, p. 469-476 8 p.

Research output: Contribution to journalReview article

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

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., Jan 1 1988, In : Archives of Pathology and Laboratory Medicine. 112, 11, p. 1133-1139 7 p.

Research output: Contribution to journalArticle

Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1)

Gärtner, J., Jimenez-Sanchez, G., Roerig, P. & Valle, D., Mar 1 1998, In : Genomics. 48, 2, p. 203-208 6 p.

Research output: Contribution to journalArticle

Genomewide linkage scan for schizophrenia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 10q22

Fallin, M. D., Lasseter, V. K., Wolyniec, P. S., McGrath, J. A., Nestadt, G., Valle, D., Liang, K. Y. & Pulver, A. E., Sep 1 2003, In : American journal of human genetics. 73, 3, p. 601-611 11 p.

Research output: Contribution to journalArticle

Genomewide linkage scan for obsessive-compulsive disorder: Evidence for susceptibility loci on chromosomes 3q, 7p, 1q, 15q, and 6q

Shugart, Y. Y., Samuels, J., Willour, V. L., Grados, M. A., 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., Page, J., Rasmussen, S. A., Bienvenu, O. J., Hoehn-Saric, R., Valle, D. & 3 others, Liang, K. Y., Riddle, M. A. & Nestadt, G., Aug 16 2006, In : Molecular psychiatry. 11, 8, p. 763-770 8 p.

Research output: Contribution to journalArticle

Genomewide linkage scan for bipolar-disorder susceptibility loci among Ashkenazi Jewish families

Fallin, M. D., Lasseter, V. K., Wolyniec, P. S., McGrath, J. A., Nestadt, G., Valle, D., Liang, K. Y. & Pulver, A. E., Aug 2004, In : American journal of human genetics. 75, 2, p. 204-219 16 p.

Research output: Contribution to journalArticle

Genome-wide association study in obsessive-compulsive disorder: Results from the OCGAS

Mattheisen, M., Samuels, J. F., Wang, Y., Greenberg, B. D., Fyer, A. J., Mccracken, J. T., Geller, D. A., Murphy, D. L., Knowles, J. A., Grados, M. A., Riddle, M. A., Rasmussen, S. A., Mclaughlin, N. C., Nurmi, E. L., Askland, K. D., Qin, H. D., Cullen, B. A., Piacentini, J., Pauls, D. L., Bienvenu, O. J. & 9 others, Stewart, S. E., Liang, K. Y., Goes, F. S., Maher, B., Pulver, A. E., Shugart, Y. Y., Valle, D., Lange, C. & Nestadt, G., Mar 12 2015, In : Molecular psychiatry. 20, 3, p. 337-344 8 p.

Research output: Contribution to journalArticle

Genetics, Individually, and Medicine in the 21st Century

Valle, D., Mar 2004, In : American journal of human genetics. 74, 3, p. 374-381 8 p.

Research output: Contribution to journalArticle

Genetics, biology and disease

Childs, B. & Valle, D., Dec 1 2000, In : Annual Review of Genomics and Human Genetics. 1, 2000, p. 1-19 19 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

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 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

"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

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

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

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

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 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