Items where Subject is "diseases & disorders > congenital hereditary genetic diseases"

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Number of items at this level: 72.

A

Alarcon, M., Abrahams, B. S., Stone, J. L., Duvall, J. A., Perederiy, J. V., Bomar, J. M., Sebat, J., Wigler, M. H., Martin, C. L., Ledbetter, D. H., Nelson, S. F., Cantor, R. M., Geschwind, D. H. (2008) Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene. Am J Hum Genet, 82 (1). pp. 150-159.

Andersen, J. N., Jansen, P. G., Echwald, S. M., Mortensen, O. H., Fukada, T., Del Vecchio, R., Tonks, N. K., Moller, N. P. (2004) A genomic perspective on protein tyrosine phosphatases: gene structure, pseudogenes, and genetic disease linkage. FASEB J, 18 (1). pp. 8-30. ISSN 1530-6860 (Electronic)

Andersen, L., Ballester, R., Marchuk, D., Saulino, A., Wigler, M. H., Collins, F. (1991) Alternative Splicing in the Proposed Catalytic Domain of the Type-1 Neurofibromatosis Gene. American Journal of Human Genetics, 49 (4). p. 21. ISSN 0002-9297

Andersen, L. B., Ballester, R., Marchuk, D. A., Chang, E., Gutmann, D. H., Saulino, A. M., Camonis, J., Wigler, M. H., Collins, F. S. (1993) A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity. Molecular and Cellular Biology, 13 (1). pp. 487-495. ISSN 0270-7306

B

Ballester, R., Marchuk, D., Boguski, M., Saulino, A., Letcher, R., Wigler, M. H., Collins, F. (1990) The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell, 63 (4). pp. 851-9. ISSN 0092-8674

Bolduc, F. V., Bell, K. G., Cox, H., Broadie, K. S., Tully, T. (2008) Excess protein synthesis in Drosophila Fragile X mutants impairs long-term memory. Nat Neurosci, 11 (10). 1143 - 1145 .

Bolduc, F. V., Shevell, M. I. (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)

Bolduc, F. V., Valente, D., Nguyen, A. T., Mitra, P. P., Tully, T. (2010) An assay for social interaction in Drosophila fragile X mutants. Fly (Austin), 4 (3). ISSN 1933-6942 (Electronic) 1933-6934 (Linking)

Bourtchouladze, R., Lidge, R., Catapano, R., Stanley, J., Gossweiler, S., Romashko, D., Scott, R., Tully, T. (2003) A mouse model of Rubinstein-Taybi syndrome: Defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4. Proceedings of the National Academy of Sciences of the United States of America, 100 (18). pp. 10518-10522. ISSN 0027-8424

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. (2011) Modelling schizophrenia using human induced pluripotent stem cells. Nature, 473 (7346). 221 - 225. ISSN 00280836 (ISSN)

C

Cartegni, L., Krainer, A. R. (2003) Correction of disease-associated exon skipping by synthetic exon-specific activators. Nature Structural Biology, 10 (2). pp. 120-125. ISSN 1072-8368

Church, G., Flicek, P., Ribbs, R., Mardis, E. (2010) PERSONAL GENOMES. In: 2010 meeting on PERSONAL GENOMES, September 10–September 12, 2010.

D

De Araújo, M. M., Bonnal, S., Hastings, M. L., Krainer, A. R., Valcárcel, J. (2009) Differential 3′ splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP. RNA, 15 (4). pp. 515-523.

Doerfel, Max, Lyon, Gholson J. (2015) The biological functions of Naa10 – from amino-terminal acetylation to human disease. Gene, 567 (2). pp. 103-131. ISSN 0378-1119

Dorfel, M. J., Fang, H., Crain, J., Klingener, M., Weiser, J., Lyon, G. J. (2017) Proteomic and genomic characterization of a yeast model for Ogden syndrome. Yeast, 34 (1). pp. 19-37. ISSN 1097-0061 (Electronic)0749-503X (Linking)

Dunn, M.J., Burghes, A.H.M., Witkowski, J. A., Dubowitz, V. (1985) Analysis of genetic muscle disorders by two-dimensional gel electrophoresis. In: Protides of the biological fluids. Pergamon Press, pp. 973-976. ISBN 9780080317397

E

Edvardson, S., Shaag, A., Zenvirt, S., Erlich, Y., Hannon, G. J., Shanske, A. L., Gomori, J. M., Ekstein, J., Elpeleg, O. (2010) Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation. American Journal of Human Genetics, 86 (1). pp. 93-97.

Erlich, Y., Edvardson, S., Hodges, E., Zenvirt, S., Thekkat, P., Shaag, A., Dor, T., Hannon, G. J., Elpeleg, O. (2011) Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Research, 21 (5). pp. 658-664. ISSN 1088-9051

F

Feigin, M. E., Malbon, C. C. (2008) OSTM1 regulates beta-catenin/Lef1 interaction and is required for Wnt/beta-catenin signaling. Cell Signal, 20 (5). 949-957 .

G

Gineau, L., Cognet, C., Kara, N., Lach, F. P., Dunne, J., Veturi, U., Picard, C., Trouillet, C., Eidenschenk, C., Aoufouchi, S., Alcaïs, A., Smith, O., Geissmann, F., Feighery, C., Abel, L., Smogorzewska, A., Stillman, B., Vivier, E., Casanova, J. L., Jouanguy, E. (2012) Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency. Journal of Clinical Investigation, 122 (3). pp. 821-832. ISSN 00219738 (ISSN)

Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., Mefford, H. C., Kidd, J. M., Browning, S. R., Browning, B. L., Dickel, D. E., Levy, D. L., Ballif, B. C., Platky, K., Farber, D. M., Gowans, G. C., Wetherbee, J. J., Asamoah, A., Weaver, D. D., Mark, P. R., Dickerson, J., Garg, B. P., Ellingwood, S. A., Smith, R., Banks, V. C., Smith, W., McDonald, M. T., Hoo, J. J., French, B. N., Hudson, C., Johnson, J. P., Ozmore, J. R., Moeschler, J. B., Surti, U., Escobar, L. F., El-Khechen, D., Gorski, J. L., Kussmann, J., Salbert, B., Lacassie, Y., Biser, A., McDonald-McGinn, D. M., Zackai, E. H., Deardorff, M. A., Shaikh, T. H., Haan, E., Friend, K. L., Fichera, M., Romano, C., Gécz, J., DeLisi, L. E., Sebat, J., King, M. C., Shaffer, L. G., Eichler, E. E. (2010) A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics.

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)

H

Hastings, M. L., Resta, N., Traum, D., Stella, A., Guanti, G., Krainer, A. R. (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)

Ho, I. S., Hannan, F., Guo, H.-F., Hakker, I., Zhong, Y. (2007) Distinct functional domains of neurofibromatosis type 1 regulate immediate versus long-term memory formation. J Neurosci, 27 (25). pp. 6852-7. ISSN 1529-2401 (Electronic)

Horev, G., Ellegood, J., Lerch, J. P., Son, Y. E., Muthuswamy, L., Vogel, H., Krieger, A. M., Buja, A., Henkelman, R. M., Wigler, M. H., Mills, A. A. (2011) Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism. Proceedings of the National Academy of Sciences of the United States of America, 108 (41). pp. 17076-81. ISSN 0027-8424

Hu, H. L., Qin, Y., Bochorishvili, G., Zhu, Y. H., Van Aelst, L., Zhu, J. J. (2008) Ras signaling mechanisms underlying impaired GluR1-dependent plasticity associated with fragile X syndrome. Journal of Neuroscience, 28 (31). pp. 7847-7862. ISSN 0270-6474

Hua, Y., Sahashi, K., Hung, G., Rigo, F., Passini, M. A., Bennett, C. F., Krainer, A. R. (2010) Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes and Development, 24 (15). pp. 1634-44. ISSN 08909369 (ISSN)

Hua, Y., Sahashi, K., Rigo, F., Hung, G., Horev, G., Bennett, C. F., Krainer, A. R. (2011) Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature, 478 (7367). pp. 123-6. ISSN 1476-4687 (Electronic) 0028-0836 (Linking)

Hua, Y., Vickers, T. A., Okunola, H. L., Bennett, C. F., Krainer, A. R. (2008) Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic Mice. Am J Hum Genet, 82 (4). pp. 834-48.

K

Kleyner, R., Malcolmson, J., Tegay, D., Ward, K., Maughan, A., Maughan, G., Nelson, L., Wang, K., Robison, R., Lyon, G. J. (2016) KBG syndrome involving a single-nucleotide duplication in ANKRD11. Cold Spring Harb Mol Case Stud, 2 (6). a001131. ISSN 2373-2873 (Linking)

Krishnan, N., Krishnan, K., Connors, C. R., Choy, M. S., Page, R., Peti, W., Van Aelst, L., Shea, S. D., Tonks, N. K. (2015) PTP1B inhibition suggests a therapeutic strategy for Rett syndrome. J Clin Invest, 125 (8). pp. 3163-3177. ISSN 1558-8238 (Electronic)0021-9738 (Linking)

L

Laughlin, Harry Hamilton (1920) Eugenical sterilization in the United States. Journal of Social Hygiene, 6 (4). pp. 499-532.

Lyon, G. J. (2015) New human genetic syndromes leading to the discovery of new biology. In: Cold Spring Harbor Laboratory: 80th CSHL Symposium on Quantitative Biology – 21st Century Genetics: Genes at Work, Cold Spring Harbor, NY. (Unpublished)

Lyon, G. J. (2015) Using next generation sequencing to discover new human genetic syndromes and reveal new biology. In: GTCbio: 5th Next Generation Sequencing Conference, Boston, MA. (Unpublished)

Lyon, G. J. (2015) Variants in TAF1 are associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features. In: Cold Spring Harbor Laboratory: Wiring the Brain, Cold Spring Harbor, NY. (Unpublished)

Lyon, Gholson J. (2014) Clinical Genomics of Neuropsychiatric Illnesses. In: Stony Brook University Division of Child and Adolescent Psychiatry, Seminar, Invited Speaker, January 2014, Stony Brook, NY. (Unpublished)

Lyon, Gholson J. (2014) Deep Brain Stimulation, Psychiatric Genetics, and iPS cell models of disease. In: CSHL In-House Seminar Series, Jan 24th 2014, Cold Spring Harbor Laboratory . (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. (2016) New human neurologic and intellectual disability syndromes involving transcription, translation, and protein degradation. In: Columbia Child Neurology and Institute of Genomic Medicine, Columbia University, New York, NY. (Unpublished)

Lyon, Gholson J. (2016) New human neurologic and intellectual disability syndromes involving transcription, translation, and protein degradation. In: Computational Genomics Seminar Series, Icahn School of Medicine at Mount Sinai, NY. (Unpublished)

Lyon, Gholson J. (2015) Ogden Syndrome and the role of Nα-acetylation in human health and disease. In: 2015 Symposium of National Creative Initiatives Center for Immune and Vascular Cell Network (NCIC-IVCN), Ewha Womans University, Seoul, Korea. (Unpublished)

Lyon, Gholson J. (2015) Optimized sequencing leading to new human genetic syndromes involving transcription, translation, and protein degradation. In: The 24th KOGO Annual Conference 2015 & The 10th Asian Epigenomics Meeting, The Korea Science and Technology Center, Seoul, Korea. (Unpublished)

Lyon, Gholson J. (2015) Optimized sequencing leading to new human genetic syndromes involving transcription, translation, and protein degradation. In: Seminar, Pohang University of Science and Technology (POSTECH), Pohang, South Korea. (Unpublished)

Lyon, Gholson J. (2015) Variants in TAF1 are associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features. In: 17th International Fragile X and Other Early-Onset Cognitive Disorders Workshop, Strasbourg, France. (Unpublished)

Lyon, Gholson J. (2015) Variants in TAF1 are associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features. In: he American Society of Human Genetics (ASHG) 2015, Baltimore, MD. (Unpublished)

Lyon, Gholson J. (2015) A new intellectual disability syndrome. In: Seminar, Cold Spring Harbor Laboratory In-House Seminar Series, Cold Spring Harbor, NY. (Unpublished)

Lyon, Gholson J. (2016) A rare genetic “transcriptomopathy” syndrome leading to insights into more common neurologic disorders. In: New York City Wide Human Genetics Meeting 2016, Rockefeller University, New York City, NY. (Unpublished)

Lyon, Gholson J., Bird, Lynne M., Rope, Alan (2013) X-linked Malformation and Infantile Lethality Syndrome (provisionally named Ogden Syndrome). In: Inborn errors of development. Oxford University Press, Oxford; New York. ISBN 9780195306910 (Submitted)

Lyon, Gholson J., O'Rawe, Jason, Wu, Yiyang, Rope, Alan, Robison, Reid J., Wang, Kai, Swensen, Jeffrey J. (2013) Whole Genome Sequencing Analysis of an Idiopathic Intellectual Disability Syndrome. In: ACMG Annual Clinical Genetics Meeting, March 19th-23rd 2013, Phoenix, AZ. (Unpublished)

M

Madsen, P. P., Kibæk, M., Roca, X., Sachidanandam, R., Krainer, A. R., Christensen, E., Steiner, R. D., Gibson, K. M., Corydon, T. J., Knudsen, I., Wanders, R. J. A., Ruiter, J. P. N., Gregersen, N., Andresen, B. S. (2006) Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. Human Genetics, 118 (6). pp. 680-690. ISSN 03406717

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)

Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., Collins, A., Mercer, C., Norga, K., de Ravel, T., Devriendt, K., Bongers, E. M., de Leeuw, N., Reardon, W., Gimelli, S., Bena, F., Hennekam, R. C., Male, A., Gaunt, L., Clayton-Smith, J., Simonic, I., Park, S. M., Mehta, S. G., Nik-Zainal, S., Woods, C. G., Firth, H. V., Parkin, G., Fichera, M., Reitano, S., Lo Giudice, M., Li, K. E., Casuga, I., Broomer, A., Conrad, B., Schwerzmann, M., Raber, L., Gallati, S., Striano, P., Coppola, A., Tolmie, J. L., Tobias, E. S., Lilley, C., Armengol, L., Spysschaert, Y., Verloo, P., De Coene, A., Goossens, L., Mortier, G., Speleman, F., van Binsbergen, E., Nelen, M. R., Hochstenbach, R., Poot, M., Gallagher, L., Gill, M., McClellan, J., King, M. C., Regan, R., Skinner, C., Stevenson, R. E., Antonarakis, S. E., Chen, C., Estivill, X., Menten, B., Gimelli, G., Gribble, S., Schwartz, S., Sutcliffe, J. S., Walsh, T., Knight, S. J., Sebat, J., Romano, C., Schwartz, C. E., Veltman, J. A., de Vries, B. B., Vermeesch, J. R., Barber, J. C., Willatt, L., Tassabehji, M., Eichler, E. E. (2008) Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. New England Journal of Medicine , 359 (16). pp. 1685-99.

Moretti, F., Marinari, B., Iacono, N. L., Botti, E., Giunta, A., Spallone, G., Garaffo, G., Vernersson-Lindahl, E., Merlo, G., Mills, A. A., Ballaro, C., Alema, S., Chimenti, S., Guerrini, L., Costanzo, A. (2010) A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias. Journal of Clinical Investigation, 120 (5). pp. 1570-1577.

Myklebust, L. M., Van Damme, P., Stove, S. I., Dorfel, M. J., Abboud, A., Kalvik, T. V., Grauffel, C., Jonckheere, V., Wu, Y., Swensen, J., Kaasa, H., Liszczak, G., Marmorstein, R., Reuter, N., Lyon, G. J., Gevaert, K., Arnesen, T. (2014) Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects. Human Molecular Genetics, 24 (7). pp. 1956-1976. ISSN 0964-6906

N

Nadif Kasri, N., Nakano-Kobayashi, A., Van Aelst, L. (2011) Rapid Synthesis of the X-Linked Mental Retardation Protein OPHN1 Mediates mGluR-Dependent LTD through Interaction with the Endocytic Machinery. Neuron, 72 (2). pp. 300-315. ISSN 1097-4199 (Electronic)0896-6273 (Linking)

Nadif Kasri, N., Van Aelst, L. (2008) Rho-linked genes and neurological disorders. Pflügers Archiv European Journal of Physiology, 455 (5). pp. 787-797.

O

O'Rawe, Jason, Wu, Yiyang, Rope, Alan, Jimenez Barron, Laura, Swensen, Jeffrey J., Fang, Han, Mittelman, David, Highnam, Gareth, Robison, Reid J., Yang, Edward, Wang, Kai, Lyon, Gholson (2015) A variant in TAF1 is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features. bioRxiv. (Unpublished)

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 (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

P

Passini, M. A., Bu, J., Richards, A. M., Kinnecom, C., Sardi, S. P., Stanek, L. M., Hua,  Y., Rigo, F., Matson, J., Hung, G., Kaye, E. M., Shihabuddin, L. S., Krainer, A. R., Bennett, C. F., Cheng, S. H. (2011) Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy. Science Translational Medicine, 3 (72). ISSN 19466234 (ISSN)

Prawitt, D., Enklaar, T., Gartner-Rupprecht, B., Spangenberg, C., Oswald, M., Lausch, E., Schmidtke, P., Reutzel, D., Fees, S., Lucito, R., Korzon, M., Brozek, L., Limon, J., Housman, D. E., Pelletier, J., Zabel, B. (2005) Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor. Proc Natl Acad Sci U S A, 102 (11). pp. 4085-4090. ISSN 0027-8424

R

Rigo, F., Hua, Y. M., Krainer, A. R., Bennett, C. F. (2012) Antisense-based therapy for the treatment of spinal muscular atrophy. Journal of Cell Biology, 199 (1). pp. 21-25. ISSN 0021-9525

S

Sahashi, K., Ling, K. K., Hua, Y., Wilkinson, J. E., Nomakuchi, T., Rigo, F., Hung, G., Xu, D., Jiang, Y. P., Lin, R. Z., Ko, C. P., Bennett, C. F., Krainer, A. R. (2013) Pathological impact of SMN2 mis-splicing in adult SMA mice. EMBO Molecular Medicine, 5 (10). pp. 1586-1601. ISSN 17574676 (ISSN)

Shi, Y., Alpatov, R., Wagner, U., Nakamoto-Kinoshita, M., Ye, Z., Luu, Y., Armache, K. J., Simon, M. D., Stuetzer, A., Greer, E. L., Wang, Z. B., Hu, G. Q., Wu, F. Z., Xu, C., Beavers, W. N., Guo, Y. H., Bian, C. B., Morrison, P. T., Vakoc, C. R., Min, J. R., Fischle, W., Kingston, R. E., Zhao, K. J., Ren, B., Warren, S. T. (2012) The fragile X mental retardation protein FMRP plays a role in the DNA damage response. Faseb Journal, 26. ISSN 0892-6638

Suzuki, K., Haraguchi, R., Ogata, T., Barbieri, O., Alegria, O., Vieux-Rochas, M., Nakagata, N., Ito, M., Mills, A. A., Kurita, T., Levi, G., Yamada, G. (2008) Abnormal urethra formation in mouse models of Split-hand/split-foot malformation type 1 and type 4. Eur J Hum Genet, 16 (1). pp. 36-44.

Svitkina, T., Lin, W. H., Webb, D. J., Yasuda, R., Wayman, G. A., Van Aelst, L., Soderling, S. H. (2010) Regulation of the Postsynaptic Cytoskeleton: Roles in Development, Plasticity, and Disorders. J Neurosci, 30 (45). pp. 14937-14942. ISSN 1529-2401 (Electronic) 0270-6474 (Linking)

T

Tegay, D. H., Chan, K. K., Leung, L., Wang, C., Burkett, S., Stone, G., Stanyon, R., Toriello, H. V., Hatchwell, E. (2009) Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2. Clinical Genetics, 75 (3). pp. 259-264. ISSN 0009-9163

V

Vernersson Lindahl, E., Garcia, E. L., Mills, A. A. (2013) An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome. American Journal of Medical Genetics Part A, 161 (8). pp. 1961-1971. ISSN 1552-4825

W

Wicklow, B. A., Ivanovich, J. L., Plews, M. M., Salo, T. J., Noetzel, M. J., Lueder, G. T., Cartegni, L., Kaback, M. M., Sandhoff, K., Steiner, R. D., Triggs-Raine, B. L. (2004) Severe subacute G(M2) gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mmRNA. American Journal of Medical Genetics Part A, 127A (2). pp. 158-166. ISSN 0148-7299

Witkowski, J. (2003) Defying Disease: Treating and Preventing Genetic Disorders. In: DNA: The Secret of Life. Knopf. ISBN 9780375415463

Witkowski, J. (2003) Genetic Hunting: The Genetics of Human Disease. In: DNA: The Secret of Life. Knopf. ISBN 9780375415463

Witkowski, J. A., Statham, H. E., Dubowitz, V. (1983) Rotation-mediated aggregation of skin fibroblasts in Duchenne muscular dystrophy. Effects of monensin. Journal of the neurological sciences, 61 (3). pp. 425-33. ISSN 0022-510X (Print)0022-510x

Wood, L., Gray, N. W., Zhou, Z. L., Greenberg, M. E., Shepherd, G. M. G. (2009) Synaptic Circuit Abnormalities of Motor-Frontal Layer 2/3 Pyramidal Neurons in an RNA Interference Model of Methyl-CpG-Binding Protein 2 Deficiency. J Neurosci, 29 (40). pp. 12440-12448. ISSN 0270-6474

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