Items where Subject is "congenital hereditary genetic diseases"

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Ajiro, Masahiko, Awaya, Tomonari, Kim, Young Jin, Iida, Kei, Denawa, Masatsugu, Tanaka, Nobuo, Kurosawa, Ryo, Matsushima, Shingo, Shibata, Saiko, Sakamoto, Tetsunori, Studer, Rolenz, Krainer, Adrian R, Hagiwara, Masatoshi (July 2021) Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia. Nature Communications, 12 (1). p. 4507. ISSN 2041-1723

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. (January 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. (January 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. (October 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. (January 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

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Ballester, R., Marchuk, D., Boguski, M., Saulino, A., Letcher, R., Wigler, M. H., Collins, F. (November 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

Bennett, C. F., Krainer, A. R., Cleveland, D. W. (July 2019) Antisense Oligonucleotide Therapies for Neurodegenerative Diseases. Annu Rev Neurosci, 42. pp. 385-406. ISSN 0147-006x

Bolduc, F. V., Bell, K. G., Cox, H., Broadie, K. S., Tully, T. (October 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. (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)

Bolduc, F. V., Valente, D., Nguyen, A. T., Mitra, P. P., Tully, T. (July 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. (September 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. (May 2011) Modelling schizophrenia using human induced pluripotent stem cells. Nature, 473 (7346). 221 - 225. ISSN 00280836 (ISSN)

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Cartegni, L., Krainer, A. R. (February 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. (September 2010) PERSONAL GENOMES. In: 2010 meeting on PERSONAL GENOMES, September 10–September 12, 2010.

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Davenport, Charles Benedict (October 1915) Huntington's chorea in relation to heredity and eugenics. American Journal of Insanity, 73. pp. 195-222.

De Araújo, M. M., Bonnal, S., Hastings, M. L., Krainer, A. R., Valcárcel, J. (April 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. (August 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. (January 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)

Dumontier, Dimitri, Liebman, Samuel A, Le, Viet-Hang, George, Shanu, Valdemar, Deasia, Van Aelst, Linda, Pouchelon, Gabrielle (September 2024) Restoring transient connectivity during development improves dysfunctions in fragile X mice. bioRxiv. ISSN 2692-8205 (Submitted)

Dunn, M.J., Burghes, A.H.M., Witkowski, J. A., Dubowitz, V. (1985) Analysis of genetic muscle disorders by two-dimensional gel electrophoresis. Protides of the Biological Fluids, 32. pp. 973-976.

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Edvardson, S., Shaag, A., Zenvirt, S., Erlich, Y., Hannon, G. J., Shanske, A. L., Gomori, J. M., Ekstein, J., Elpeleg, O. (January 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. (May 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

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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 .

Frederiksen, Sabrina B, Holm, Lise L, Larsen, Martin R, Doktor, Thomas K, Andersen, Henriette S, Hastings, Michelle L, Hua, Yimin, Krainer, Adrian R, Andresen, Brage S (March 2021) Identification of SRSF10 as a regulator of SMN2 ISS-N1. Human Mutation, 42 (3). pp. 246-260. ISSN 1059-7794

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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. (March 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. (March 2010) A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics, 42 (3). pp. 203-209.

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)

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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)

Ho, I. S., Hannan, F., Guo, H.-F., Hakker, I., Zhong, Y. (June 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. (October 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. (July 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. (August 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. (October 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. (April 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.

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Kim, Young Jin, Nomakuchi, Tomoki, Papaleonidopoulou, Foteini, Yang, Lucia, Zhang, Qian, Krainer, Adrian R (May 2022) Gene-specific nonsense-mediated mRNA decay targeting for cystic fibrosis therapy. Nature Communications, 13 (1). p. 2978. ISSN 2041-1723

Kim, Young Jin, Sivetz, Nicole, Layne, Jessica, Voss, Dillon M, Yang, Lucia, Zhang, Qian, Krainer, Adrian R (January 2022) Exon-skipping antisense oligonucleotides for cystic fibrosis therapy. Proceedings of the National Academy of Sciences of USA, 119 (3). e2114858118-e2114858118. ISSN 0027-8424

Kleyner, R., Malcolmson, J., Tegay, D., Ward, K., Maughan, A., Maughan, G., Nelson, L., Wang, K., Robison, R., Lyon, G. J. (November 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. (July 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)

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

Li, Jin-Jing, Lin, Xiang, Tang, Cheng, Lu, Ying-Qian, Hu, Xinde, Zuo, Erwei, Li, He, Ying, Wenqin, Sun, Yidi, Lai, Lu-Lu, Chen, Hai-Zhu, Guo, Xin-Xin, Zhang, Qi-Jie, Wu, Shuang, Zhou, Changyang, Shen, Xiaowen, Wang, Qifang, Lin, Min-Ting, Ma, Li-Xiang, Wang, Ning, Krainer, Adrian R, Shi, Linyu, Yang, Hui, Chen, Wan-Jin (January 2020) Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and mice. National Science Review, 7 (1). pp. 92-101. ISSN 2095-5138

Lyon, G. J. (May 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. (May 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. (March 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. (January 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. (January 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. (February 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. (April 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. (September 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. (September 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. (September 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. (September 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. (October 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. (October 2015) A new intellectual disability syndrome. In: Seminar, Cold Spring Harbor Laboratory In-House Seminar Series, Cold Spring Harbor, NY. (Unpublished)

Lyon, Gholson J. (January 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. (March 2013) Whole Genome Sequencing Analysis of an Idiopathic Intellectual Disability Syndrome. In: ACMG Annual Clinical Genetics Meeting, March 19th-23rd 2013, Phoenix, AZ. (Unpublished)

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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

Marasco, Luciano E, Dujardin, Gwendal, Sousa-Luís, Rui, Liu, Ying Hsiu, Stigliano, Jose N, Nomakuchi, Tomoki, Proudfoot, Nick J, Krainer, Adrian R, Kornblihtt, Alberto R (June 2022) Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy. Cell, 185 (12). 2057-2070.e15. ISSN 0092-8674

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. (October 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. (May 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. (December 2014) Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects. Human Molecular Genetics, 24 (7). pp. 1956-1976. ISSN 0964-6906

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

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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 (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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Pagliaro, Alexa H (May 2023) A disrupted parvalbumin network state impairs maternal behavior in a mouse model of Rett Syndrome. PhD thesis, Cold Spring Harbor Laboratory.

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. (March 2011) Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy. Science Translational Medicine, 3 (72). ISSN 19466234 (ISSN)

Pouchelon, Gabrielle, Dwivedi, Deepanjali, Bollmann, Yannick, Agba, Chimuanya K, Xu, Qing, Mirow, Andrea MC, Kim, Sehyun, Qiu, Yanjie, Sevier, Elaine, Ritola, Kimberly D, Cossart, Rosa, Fishell, Gord (November 2021) The organization and development of cortical interneuron presynaptic circuits are area specific. Cell Reports, 37 (6). p. 109993. ISSN 2211-1247

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. (March 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

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

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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. (September 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. (April 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. (January 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. (November 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)

Szelenyi, Eric R, Fisenne, Danielle, Knox, Joseph E, Harris, Julie A, Gornet, James A, Palaniswamy, Ramesh, Kim, Yongsoo, Venkataraju, Kannan Umadevi, Osten, Pavel (April 2024) Distributed X chromosome inactivation in brain circuitry is associated with X-linked disease penetrance of behavior. Cell Reports, 43 (4). p. 114068. ISSN 2211-1247

T

Tegay, D. H., Chan, K. K., Leung, L., Wang, C., Burkett, S., Stone, G., Stanyon, R., Toriello, H. V., Hatchwell, E. (March 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. (June 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. (June 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. DNA - The Secret of Life.

Witkowski, J. (2003) Gene Hunting: The Genetics of Human Disease. DNA - The Secret of Life.

Witkowski, J. A., Statham, H. E., Dubowitz, V. (October 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. (October 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