Year |
Citation |
Score |
2018 |
Cogill SB, Srivastava AK, Yang MQ, Wang L. Co-expression of long non-coding RNAs and autism risk genes in the developing human brain. Bmc Systems Biology. 12: 91. PMID 30547845 DOI: 10.1186/S12918-018-0639-X |
0.317 |
|
2018 |
Abad C, Cook MM, Cao L, Jones JR, Rao NR, Dukes-Rimsky L, Pauly R, Skinner C, Wang Y, Luo F, Stevenson RE, Walz K, Srivastava AK. A Rare De Novo Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation. Biology. 7. PMID 29794985 DOI: 10.3390/Biology7020031 |
0.444 |
|
2017 |
Gudenas BL, Srivastava AK, Wang L. Integrative genomic analyses for identification and prioritization of long non-coding RNAs associated with autism. Plos One. 12: e0178532. PMID 28562671 DOI: 10.1371/Journal.Pone.0178532 |
0.351 |
|
2014 |
Srivastava AK, Schwartz CE. Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms. Neuroscience and Biobehavioral Reviews. 46: 161-74. PMID 24709068 DOI: 10.1016/J.Neubiorev.2014.02.015 |
0.325 |
|
2012 |
Nguyen LS, Jolly L, Shoubridge C, Chan WK, Huang L, Laumonnier F, Raynaud M, Hackett A, Field M, Rodriguez J, Srivastava AK, Lee Y, Long R, Addington AM, Rapoport JL, et al. Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability. Molecular Psychiatry. 17: 1103-15. PMID 22182939 DOI: 10.1038/Mp.2011.163 |
0.368 |
|
2012 |
Vieira GH, Rodriguez JD, Carmona-Mora P, Cao L, Gamba BF, Carvalho DR, de Rezende Duarte A, Santos SR, de Souza DH, DuPont BR, Walz K, Moretti-Ferreira D, Srivastava AK. Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome. European Journal of Human Genetics : Ejhg. 20: 148-54. PMID 21897445 DOI: 10.1038/Ejhg.2011.167 |
0.362 |
|
2010 |
Wang L, Srivastava AK, Schwartz CE. Microarray data integration for genome-wide analysis of human tissue-selective gene expression. Bmc Genomics. 11: S15. PMID 21047382 DOI: 10.1186/1471-2164-11-S2-S15 |
0.346 |
|
2010 |
Rodriguez JD, Bhat SS, Meloni I, Ladd S, Leslie ND, Doyne EO, Renieri A, Dupont BR, Stevenson RE, Schwartz CE, Srivastava AK. Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3. American Journal of Medical Genetics. Part A. 152: 713-7. PMID 20186809 DOI: 10.1002/Ajmg.A.33208 |
0.437 |
|
2009 |
Mues GI, Griggs R, Hartung AJ, Whelan G, Best LG, Srivastava AK, D'Souza R. From ectodermal dysplasia to selective tooth agenesis. American Journal of Medical Genetics. Part A. 149: 2037-41. PMID 19504606 DOI: 10.1002/Ajmg.A.32801 |
0.366 |
|
2009 |
Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, ... ... Srivastava AK, et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nature Genetics. 41: 535-43. PMID 19377476 DOI: 10.1038/Ng.367 |
0.364 |
|
2009 |
Griggs BL, Ladd S, Decker A, DuPont BR, Asamoah A, Srivastava AK. Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus. European Journal of Human Genetics : Ejhg. 17: 30-6. PMID 18854857 DOI: 10.1038/Ejhg.2008.183 |
0.663 |
|
2008 |
Gregory ML, Guzauskas GF, Edgar TS, Clarkson KB, Srivastava AK, Holden KR. A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype. Journal of Child Neurology. 23: 1433-8. PMID 19073849 DOI: 10.1177/0883073808320754 |
0.34 |
|
2008 |
Cho G, Bhat SS, Gao J, Collins JS, Rogers RC, Simensen RJ, Schwartz CE, Golden JA, Srivastava AK. Evidence that SIZN1 is a candidate X-linked mental retardation gene. American Journal of Medical Genetics. Part A. 146: 2644-50. PMID 18798319 DOI: 10.1002/Ajmg.A.32472 |
0.467 |
|
2008 |
Vincent JB, Choufani S, Horike S, Stachowiak B, Li M, Dill FJ, Marshall C, Hrynchak M, Pewsey E, Ukadike KC, Friedman JM, Srivastava AK, Scherer SW. A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints. Psychiatric Genetics. 18: 101-9. PMID 18496206 DOI: 10.1097/Ypg.0B013E3282F97Df7 |
0.346 |
|
2008 |
Griggs BL, Ladd S, Saul RA, DuPont BR, Srivastava AK. Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities. Genomics. 91: 195-202. PMID 18060736 DOI: 10.1016/J.Ygeno.2007.10.011 |
0.676 |
|
2007 |
Wu Y, Arai AC, Rumbaugh G, Srivastava AK, Turner G, Hayashi T, Suzuki E, Jiang Y, Zhang L, Rodriguez J, Boyle J, Tarpey P, Raymond FL, Nevelsteen J, Froyen G, et al. Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. Proceedings of the National Academy of Sciences of the United States of America. 104: 18163-8. PMID 17989220 DOI: 10.1073/Pnas.0708699104 |
0.319 |
|
2007 |
Guzauskas GF, Ukadike K, Rimsky L, Srivastava AK. tSNP-based identification of allelic loss of gene expression in a patient with a balanced chromosomal rearrangement. Genomics. 89: 562-5. PMID 17241765 DOI: 10.1016/J.Ygeno.2006.12.006 |
0.481 |
|
2007 |
Tarpey PS, Raymond FL, O'Meara S, Edkins S, Teague J, Butler A, Dicks E, Stevens C, Tofts C, Avis T, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, ... ... Srivastava AK, et al. Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. American Journal of Human Genetics. 80: 345-52. PMID 17236139 DOI: 10.1086/511134 |
0.364 |
|
2006 |
Vervoort VS, Guzauskas G, Archie J, Schwartz CE, Stevenson RE, Srivastava AK. AGTR2 in brain development and function. American Journal of Medical Genetics. Part A. 140: 419-20. PMID 16463274 DOI: 10.1002/Ajmg.A.31046 |
0.341 |
|
2005 |
Bhat SS, Rogers RC, Holden KR, Srivastava AK. A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia. American Journal of Medical Genetics. Part A. 138: 70-2. PMID 16097002 DOI: 10.1002/Ajmg.A.30892 |
0.301 |
|
2004 |
Vervoort VS, Holden KR, Ukadike KC, Collins JS, Saul RA, Srivastava AK. POMGnT1 gene alterations in a family with neurological abnormalities. Annals of Neurology. 56: 143-8. PMID 15236414 DOI: 10.1002/Ana.20172 |
0.356 |
|
2003 |
Cui CY, Durmowicz M, Ottolenghi C, Hashimoto T, Griggs B, Srivastava AK, Schlessinger D. Inducible mEDA-A1 transgene mediates sebaceous gland hyperplasia and differential formation of two types of mouse hair follicles. Human Molecular Genetics. 12: 2931-40. PMID 14506134 DOI: 10.1093/Hmg/Ddg325 |
0.632 |
|
2002 |
Cui CY, Durmowicz M, Tanaka TS, Hartung AJ, Tezuka T, Hashimoto K, Ko MS, Srivastava AK, Schlessinger D. EDA targets revealed by skin gene expression profiles of wild-type, Tabby and Tabby EDA-A1 transgenic mice. Human Molecular Genetics. 11: 1763-73. PMID 12095918 DOI: 10.1093/Hmg/11.15.1763 |
0.443 |
|
2001 |
Srivastava AK, Durmowicz MC, Hartung AJ, Hudson J, Ouzts LV, Donovan DM, Cui CY, Schlessinger D. Ectodysplasin-A1 is sufficient to rescue both hair growth and sweat glands in Tabby mice. Human Molecular Genetics. 10: 2973-81. PMID 11751679 DOI: 10.1093/Hmg/10.26.2973 |
0.394 |
|
2001 |
Pääkkönen K, Cambiaghi S, Novelli G, Ouzts LV, Penttinen M, Kere J, Srivastava AK. The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia. Human Mutation. 17: 349-349. PMID 11295832 DOI: 10.1002/Humu.33 |
0.328 |
|
2000 |
Friez MJ, Essop FB, Krause A, Castiglia L, Ragusa A, Sossey-Alaoui K, Nelson RL, May MM, Michaelis RC, Srivastava AK, Schwartz CE, Stevenson RE, Goldman A, Villard L, Longshore JW. Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation. Human Genetics. 106: 36-9. PMID 10982179 DOI: 10.1007/S004390051006 |
0.326 |
|
1999 |
Sossey-Alaoui K, Lyon JA, Jones L, Abidi FE, Hartung AJ, Hane B, Schwartz CE, Stevenson RE, Srivastava AK. Molecular Cloning and Characterization of TRPC5 (HTRP5), the Human Homologue of a Mouse Brain Receptor-Activated Capacitative Ca2+ Entry Channel Genomics. 60: 330-340. PMID 10493832 DOI: 10.1006/Geno.1999.5924 |
0.42 |
|
1999 |
Srivastava AK, McMillan S, Jermak C, Shomaker M, Copeland-Yates SA, Sossey-Alaoui K, Mumm S, Schlessinger D, Nagaraja R. Integrated STS/YAC physical, genetic, and transcript map of human Xq21.3 to q23/q24 (DXS1203-DXS1059). Genomics. 58: 188-201. PMID 10366451 DOI: 10.1006/Geno.1999.5820 |
0.412 |
|
1999 |
Sossey-Alaoui K, Srivastava AK. DCAMKL1, a Brain-Specific Transmembrane Protein on 13q12.3 That Is Similar to Doublecortin (DCX) Genomics. 56: 121-126. PMID 10036192 DOI: 10.1006/Geno.1998.5718 |
0.34 |
|
1998 |
Bayés M, Hartung AJ, Ezer S, Pispa J, Thesleff I, Srivastava AK, Kere J. The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats Human Molecular Genetics. 7: 1661-1669. PMID 9736768 DOI: 10.1093/Hmg/7.11.1661 |
0.412 |
|
1998 |
Sossey-Alaoui K, Hartung AJ, Guerrini R, Manchester DK, Posar A, Puche-Mira A, Andermann E, Dobyns WB, Srivastava AK. Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects Human Molecular Genetics. 7: 1327-1332. PMID 9668176 DOI: 10.1093/Hmg/7.8.1327 |
0.419 |
|
1997 |
Srivastava AK, Pispa J, Hartung AJ, Du Y, Ezer S, Jenks T, Shimada T, Pekkanen M, Mikkola ML, Ko MS, Thesleff I, Kere J, Schlessinger D. The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. Proceedings of the National Academy of Sciences of the United States of America. 94: 13069-74. PMID 9371801 DOI: 10.1073/Pnas.94.24.13069 |
0.473 |
|
1997 |
Nagaraja R, MacMillan S, Kere J, Jones C, Griffin S, Schmatz M, Terrell J, Shomaker M, Jermak C, Hott C, Masisi M, Mumm S, Srivastava A, Pilia G, Featherstone T, et al. X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content. Genome Research. 7: 210-22. PMID 9074925 DOI: 10.1101/Gr.7.3.210 |
0.345 |
|
1996 |
Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, Morgan D, Clarke A, Baybayan P, Chen EY, Ezer S, Saarialho-Kere U, de la Chapelle A, Schlessinger D. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nature Genetics. 13: 409-16. PMID 8696334 DOI: 10.1038/ng0895-409 |
0.32 |
|
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