Items where Subject is "genetic disorders"

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Bhattacharjee, S., Nandi, S. (September 2018) Rare Genetic Diseases with Defects in DNA Repair: Opportunities and Challenges in Orphan Drug Development for Targeted Cancer Therapy. Cancers (Basel), 10 (9). ISSN 2072-6694 (Print)2072-6694

Bolduc, F. V., Shevell, M. I. (November 2005) Corrected head circumference centiles as a possible predictor of developmental performance in high-risk neonatal intensive care unit survivors. Dev Med Child Neurol, 47 (11). pp. 766-70. ISSN 0012-1622 (Print)

Brennand, K. J., Simone, A., Jou, J., Gelboin-Burkhart, C., Tran, N., Sangar, S., Li, Y., Mu, Y., Chen, G., Yu, D., McCarthy, S. E., Sebat, J., Gage, F. H. (May 2011) Modelling schizophrenia using human induced pluripotent stem cells. Nature, 473 (7346). 221 - 225. ISSN 00280836 (ISSN)

Brown, P., Cervenáková, L., Goldfarb, L. G., McCombie, W. R., Rubenstein, R., Will, R. G., Pocchiari, M., Martinez-Lage, J. F., Scalici, C., Masullo, C., Graupera, G., Ligan, J., Gajdusek, D. C. (1994) Iatrogenic Creutzfeldt-Jakob disease: An example of the interplay between ancient genes and modern medicine. Neurology, 44 (2). pp. 291-293. ISSN 00283878 (ISSN)

Brown, P., Goldfarb, L. G., McCombie, W. R., Nieto, A., Squillacote, D., Sheremata, W., Little, B. W., Godec, M. S., Gibbs Jr, C. J., Gajdusek, D. C. (1992) Atypical Creutzfeldt-Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor gene. Neurology, 42 (2). pp. 422-427. ISSN 00283878 (ISSN)

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Consugar, M. B., Anderson, S. A., Rossetti, S., Pankratz, S., Ward, C. J., Torra, R., Coto, E., El-Youssef, M., Kantarci, S., Utsch, B., Hildebrandt, F., Sweeney, W. E., Avner, E. D., Torres, V. E., Cunningham, J. M., Harris, P. C. (January 2005) Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. American Journal of Kidney Diseases, 45 (1). pp. 77-87. ISSN 0272-6386

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Farrar, J., Nater, M., Caywood, E., McDevitt, M., Kowalski, J., Takemoto, C., Talbot, C., Meltzer, P., Esposito, D., Beggs, A., Schneider, H., Grabowska, A., Ball, S., Niewiadomska, E., Sieff, C., Vlachos, A., Atsidaftos, E., Ellis, S., Lipton, J., Gazda, H., Arceci, R. J. (November 2007) A large ribosomal subunit protein abnormality in diamond-blackfan anemia (DBA). Blood, 110 (11). 131A-131A. ISSN 0006-4971

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Girirajan, S., Mendoza-Londono, R., Vlangos, C. N., Dupuis, L., Nowak, N. J., Bunyan, D. J., Hatchwell, E., Elsea, S. H. (May 2007) Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1). American Journal of Medical Genetics Part A, 143A (9). pp. 999-1008. ISSN 1552-4825

Goldfarb, L. G., Brown, P., Haltia, M., Cathala, F., McCombie, W. R., Kovanen, J., Červeňáková, L., Goldin, L., Nieto, A., Godec, M. S., Asher, D. M., Gajdusek, D. C. (1992) Creutzfeldt-Jakob disease cosegregates with the codon 178Asn PRNP mutation in families of European origin. Annals of neurology, 31 (3). pp. 274-281. ISSN 03645134 (ISSN)

Goldfarb, L. G., Brown, P., McCombie, W. R., Goldgaber, D., Swergold, G. D., Wills, P. R., Cervenakova, L., Baron, H., Gibbs Jr, C. J., Gajdusek, D. C. (1991) Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. Proceedings of the National Academy of Sciences of the United States of America, 88 (23). pp. 10926-10930. ISSN 00278424 (ISSN)

Goldfarb, L. G., Brown, P., Nuez, A. N., McCombie, W. R., Goldgaber, D., Asher, D. M., Gaidusek, D. C. (October 1991) FAMILIAL CREUTZFELDT-JAKOB DISEASE IS ASSOCIATED WITH 3 SEPARATE MUTATIONS. American Journal of Human Genetics, 49 (4). p. 188. ISSN 0002-9297

Goldfarb, L. G., Brown, P., Vrbovska, A., Baron, H., McCombie, W. R., Cathala, F., Gibbs Jr, C. J., Gajdusek, D. C. (1992) An insert mutation in the chromosome 20 amyloid precursor gene in a Gerstmann-Straussler-Scheinker family. Journal of the Neurological Sciences, 111 (2). pp. 189-194. ISSN 0022510X (ISSN)

Goldfarb, L. G., Haltia, M., Brown, P., Nieto, A., Kovanen, J., McCombie, W. R., Trapp, S., Carleton Gajdusek, D. (1991) New mutation in scrapie amyloid precursor gene (at codon 178) in finnish Creutzfield-Jakob kindred. Lancet, 337 (8738). p. 425. ISSN 01406736 (ISSN)

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Hannan, F., Ho, I., Tong, J. J., Zhu, Y., Nurnberg, P., Zhong, Y. (April 2006) Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras. Hum Mol Genet, 15 (7). pp. 1087-98. ISSN 0964-6906 (Print)

Hastings, M. L., Resta, N., Traum, D., Stella, A., Guanti, G., Krainer, A. R. (January 2005) An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites. Nat Struct Mol Biol, 12 (1). pp. 54-9. ISSN 1545-9993 (Print)

Hirschtritt, M. E., Lee, P. C., Pauls, D. L., Dion, Y., Grados, M. A., Illmann, C., King, R. A., Sandor, P., McMahon, W. M., Lyon, G. J., Cath, D. C., Kurlan, R., Robertson, M. M., Osiecki, L., Scharf, J. M., Mathews, C. A. (April 2015) Lifetime Prevalence, Age of Risk, and Genetic Relationships of Comorbid Psychiatric Disorders in Tourette Syndrome. JAMA Psychiatry, 72 (4). p. 325. ISSN 2168-622x

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Kusenda, M., Sebat, J. (2008) The role of rare structural variants in the genetics of autism spectrum disorders. Cytogenet Genome Res, 123 (1--4). pp. 36-43. ISSN 1424-8581 (Print)1424-859X (Electronic)

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Liu, Hao, Caballero-Florán, René N, Hergenreder, Ty, Yang, Tao, Hull, Jacob M, Pan, Geng, Li, Ruonan, Veling, Macy W, Isom, Lori L, Kwan, Kenneth Y, Huang, Z Josh, Fuerst, Peter G, Jenkins, Paul M, Ye, Bing (April 2023) DSCAM gene triplication causes excessive GABAergic synapses in the neocortex in Down syndrome mouse models. PLoS Biology, 21 (4). e3002078. ISSN 1544-9173

Lyon, G. J. (May 2015) Discovery and genetic characterization of new neuropsychiatric syndromes from family-based studies. In: Cold Spring Harbor Laboratory: The Biology of Genomes Meeting, Cold Spring Harbor, NY. (Unpublished)

Lyon, Gholson J. (October 2013) Amino-terminal acetylation of proteins by N-terminal acetyltransferases: mechanisms and relevance to human genetic diseases. In: Stony Brook University Department of Chemistry Seminar Series, Oct 3rd 2013, Stony Brook, NY. (Unpublished)

Lyon, Gholson J. (May 2013) Clinical genetics and other aspects of neuropsychiatric disorders. In: The International Behavioural and Neural Genetics Society (IBANGS), Genes, Brain & Behavior 15th Annual Meeting, May 20th-24th 2013, Leuven, Belgium. (Unpublished)

Lyon, Gholson J. (2012) Clinical progress in autism genetics and treatment. In: Systems biology of autism: from basic science to therapeutic strategies , Sept 9-­12, 2012. (Unpublished)

Lyon, Gholson J. (2013) Genetic and Biochemical Analysis of Childhood-­Onset Idiopathic Neuropsychiatric Disorders. In: Institute for Computational Biomedicine and Department of Physiology and Biophysics Seminar Series, Feb 13th 2013, Weill Cornell Medical College, New York, NY. (Unpublished)

Lyon, Gholson J. (2012) Genetics and Genome Sequencing of Childhood-Onset Neuropsychiatric Disorders. In: Department of Psychiatry and Behavioral Science Grand Rounds, Dec 18th 2012, Stony Brook University . (Unpublished)

Lyon, Gholson J., O'Rawe, Jason (July 2015) Human genetics and clinical aspects of neurodevelopmental disorders. In: The Genetics of Neurodevelopmental Disorders. Wiley, pp. 289-317.

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McCombie, W. R., Martin-Gallardo, A., Gocayne, J. D., FitzGerald, M., Dubnick, M., Kelley, J. M., Castilla, L., Liu, L. I., Wallace, S., Trapp, S., Tagle, D., Whaley, W. L., Cheng, S., Gusella, J., Frischauf, A. M., Poustka, A., Lehrach, H., Collins, F. S., Kerlavage, A. R., Fields, C., Venter, J. C. (1992) Expressed genes, Alu repeats and polymorphisms in cosmids sequenced from chromosome 4p16.3. Nature Genetics, 1 (5). pp. 348-353. ISSN 10614036 (ISSN)

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Newey, S. E., Velamoor, V., Govek, E.-E., Van Aelst, L. (July 2005) Rho GTPases, dendritic structure, and mental retardation. J Neurobiol, 64 (1). pp. 58-74. ISSN 0022-3034 (Print)

Nieto, A., Goldfarb, L. G., Brown, P., McCombie, W. R., Trapp, S., Asher, D. M., Gajdusek, D. C. (1991) Codon 178 mutation in ethnically diverse Creutzfeldt-Jakob disease families [29]. Lancet, 337 (8741). pp. 622-623. ISSN 01406736 (ISSN)

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O’Rawe, Jason A, Wu, Yiyang, Dörfel, Max J, Rope, Alan F, Au, P. Y.  Billie, Parboosingh, Jillian S, Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S, Tzetis, Maria, Schuette, Jane L, Hufnagel, Robert B, Prada, Carlos E, Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T, Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G, Wang, Kai, Davis, Erica E, Katsanis, Nicholas, Kalscheuer, Vera M, Wang, Edith H, Metcalfe, Kay, Kleefstra, Tjitske, Innes, A.  Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E, Lyon, Gholson J (December 2015) TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. The American Journal of Human Genetics, 97 (6). pp. 922-932. ISSN 0002-9297

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Schulze, T. G., Ohlraun, S., Czerski, P. M., Schumacher, J., Kassem, L., Deschner, M., Gross, M., Tullius, M., Heidmann, V., Kovalenko, S., Jamra, R. A., Becker, T., Leszczynska-Rodziewicz, A., Hauser, J., Illig, T., Klopp, N., Wellek, S., Cichon, S., Henn, F. A., McMahon, F. J., Maier, W., Propping, P., Nothen, M. M., Rietschel, M. (November 2005) Genotype-phenotype studies in bipolar disorder showing association between the DAOA/G30 locus and persecutory delusions: a first step toward a molecular genetic classification of psychiatric phenotypes. Am J Psychiatry, 162 (11). pp. 2101-8. ISSN 0002-953X (Print)0002-953X (Linking)

Sebat, J., Levy, D. L., McCarthy, S. E. (October 2009) Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends Genet.

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Tam, O. H., Rozhkov, N. V., Shaw, R., Kim, D., Hubbard, I., Fennessey, S., Propp, N., Fagegaltier, D., Harris, B. T., Ostrow, L. W., Phatnani, H., Ravits, J., Dubnau, J., Gale Hammell, M. (October 2019) Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia. Cell Rep, 29 (5). 1164-1177.e5.

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Vasudevan, Anand, Schukken, Klaske M, Sausville, Erin L, Girish, Vishruth, Adebambo, Oluwadamilare A, Sheltzer, Jason M (February 2021) Aneuploidy as a promoter and suppressor of malignant growth. Nature Reviews Cancer, 21 (2). pp. 89-103. ISSN 1474-175X

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Yu, D., Sul, J. H., Tsetsos, F., Nawaz, M. S., Huang, A. Y., Zelaya, I., Illmann, C., Osiecki, L., Darrow, S. M., Hirschtritt, M. E., Greenberg, E., Muller-Vahl, K. R., Stuhrmann, M., Dion, Y., Rouleau, G., Aschauer, H., Stamenkovic, M., Schlogelhofer, M., Sandor, P., Barr, C. L., Grados, M., Singer, H. S., Nothen, M. M., Hebebrand, J., Hinney, A., King, R. A., Fernandez, T. V., Barta, C., Tarnok, Z., Nagy, P., Depienne, C., Worbe, Y., Hartmann, A., Budman, C. L., Rizzo, R., Lyon, G. J., McMahon, W. M., Batterson, J. R., Cath, D. C., Malaty, I. A., Okun, M. S., Berlin, C., Woods, D. W., Lee, P. C., Jankovic, J., Robertson, M. M., Gilbert, D. L., Brown, L. W., Coffey, B. J., Dietrich, A., Hoekstra, P. J., Kuperman, S., Zinner, S. H., Luethvigsson, P., Saemundsen, E., Thorarensen, O., Atzmon, G., Barzilai, N., Wagner, M., Moessner, R., Ophoff, R., Pato, C. N., Pato, M. T., Knowles, J. A., Roffman, J. L., Smoller, J. W., Buckner, R. L., Willsey, A. J., Tischfield, J. A., Heiman, G. A., Stefansson, H., Stefansson, K., Posthuma, D., Cox, N. J., Pauls, D. L., Freimer, N. B., Neale, B. M., Davis, L. K., Paschou, P., Coppola, G., Mathews, C. A., Scharf, J. M. (March 2019) Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies. The American Journal of Psychiatry, 176 (3). pp. 217-227. ISSN 0002-953x