Melissa Ramocki - Publications

Pediatrics Baylor College of Medicine, Houston, TX 

32 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2015 Nageshappa S, Carromeu C, Trujillo CA, Mesci P, Espuny-Camacho I, Pasciuto E, Vanderhaeghen P, Verfaillie CM, Raitano S, Kumar A, Carvalho CM, Bagni C, Ramocki MB, Araujo BH, Torres LB, et al. Altered neuronal network and rescue in a human MECP2 duplication model. Molecular Psychiatry. PMID 26347316 DOI: 10.1038/mp.2015.128  1
2014 Carvalho CM, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte AB, Vianna-Morgante AM, Krepischi AC, Patel GS, Immken L, Aleck K, Lim C, Cheung SW, et al. Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. American Journal of Human Genetics. 95: 565-78. PMID 25439725 DOI: 10.1016/j.ajhg.2014.10.006  1
2013 Campbell IM, Rao M, Arredondo SD, Lalani SR, Xia Z, Kang SH, Bi W, Breman AM, Smith JL, Bacino CA, Beaudet AL, Patel A, Cheung SW, Lupski JR, Stankiewicz P, ... Ramocki MB, et al. Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy. Plos Genetics. 9: e1003797. PMID 24086149 DOI: 10.1371/journal.pgen.1003797  1
2013 Carvalho CM, Pehlivan D, Ramocki MB, Fang P, Alleva B, Franco LM, Belmont JW, Hastings PJ, Lupski JR. Replicative mechanisms for CNV formation are error prone. Nature Genetics. 45: 1319-26. PMID 24056715 DOI: 10.1038/ng.2768  1
2013 Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, ... ... Ramocki MB, et al. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. American Journal of Human Genetics. 93: 197-210. PMID 23810381 DOI: 10.1016/j.ajhg.2013.05.027  1
2013 Peters SU, Hundley RJ, Wilson AK, Carvalho CM, Lupski JR, Ramocki MB. Brief report: regression timing and associated features in MECP2 duplication syndrome. Journal of Autism and Developmental Disorders. 43: 2484-90. PMID 23456562 DOI: 10.1007/s10803-013-1796-9  1
2013 Peters SU, Hundley RJ, Wilson AK, Warren Z, Vehorn A, Carvalho CM, Lupski JR, Ramocki MB. The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism. Autism Research : Official Journal of the International Society For Autism Research. 6: 42-50. PMID 23169761 DOI: 10.1002/aur.1262  1
2012 Yang T, Ramocki MB, Neul JL, Lu W, Roberts L, Knight J, Ward CS, Zoghbi HY, Kheradmand F, Corry DB. Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses. Science Translational Medicine. 4: 163ra158. PMID 23220634 DOI: 10.1126/scitranslmed.3004430  1
2012 Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, ... ... Ramocki MB, et al. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. Journal of Medical Genetics. 49: 660-8. PMID 23054248 DOI: 10.1136/jmedgenet-2012-101203  1
2012 Hanchard NA, Carvalho CM, Bader P, Thome A, Omo-Griffith L, del Gaudio D, Pehlivan D, Fang P, Schaaf CP, Ramocki MB, Lupski JR, Cheung SW. A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype. Bmc Medical Genetics. 13: 71. PMID 22883432 DOI: 10.1186/1471-2350-13-71  1
2011 Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, et al. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nature Genetics. 43: 1074-81. PMID 21964572 DOI: 10.1038/ng.944  1
2011 Murdock DR, Clark GD, Bainbridge MN, Newsham I, Wu YQ, Muzny DM, Cheung SW, Gibbs RA, Ramocki MB. Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. American Journal of Medical Genetics. Part A. 155: 2071-7. PMID 21834044 DOI: 10.1002/ajmg.a.34165  1
2011 Ramocki MB, Scaglia F, Stankiewicz P, Belmont JW, Jones JY, Clark GD. Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2. American Journal of Medical Genetics. Part A. 155: 1574-80. PMID 21638761 DOI: 10.1002/ajmg.a.34029  1
2011 Campbell IM, Kolodziejska KE, Quach MM, Wolf VL, Cheung SW, Lalani SR, Ramocki MB, Stankiewicz P. TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly. American Journal of Medical Genetics. Part A. 155: 1442-7. PMID 21567932 DOI: 10.1002/ajmg.a.34015  1
2011 Ansari SA, Hunter JV, Nassif LM, Clark GD, Ramocki MB. Bilateral in utero cerebellar infarction. Journal of Child Neurology. 26: 895-9. PMID 21266324 DOI: 10.1177/0883073810393961  1
2011 Breman AM, Ramocki MB, Kang SH, Williams M, Freedenberg D, Patel A, Bader PI, Cheung SW. MECP2 duplications in six patients with complex sex chromosome rearrangements. European Journal of Human Genetics : Ejhg. 19: 409-15. PMID 21119712 DOI: 10.1038/ejhg.2010.195  1
2011 Ramocki M, Scaglia F, Jones J, Clark G. Rhombencephalosynapsis is a malformation deserving of further study American Journal of Medical Genetics, Part A. 155: 2902. DOI: 10.1002/ajmg.a.34281  1
2010 Ramocki MB, Bartnik M, Szafranski P, KoÅ‚odziejska KE, Xia Z, Bravo J, Miller GS, Rodriguez DL, Williams CA, Bader PI, Szczepanik E, Mazurczak T, Antczak-Marach D, Coldwell JG, Akman CI, et al. Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. American Journal of Human Genetics. 87: 857-65. PMID 21109226 DOI: 10.1016/j.ajhg.2010.10.019  1
2010 Ramocki MB, Tavyev YJ, Peters SU. The MECP2 duplication syndrome. American Journal of Medical Genetics. Part A. 152: 1079-88. PMID 20425814 DOI: 10.1002/ajmg.a.33184  1
2010 El-Hakam LM, Ramocki MB, Riviello JJ, Illner A. Hyperperfusion on magnetic resonance imaging in acute chemotherapy-related leukoencephalopathy. Journal of Child Neurology. 25: 776-9. PMID 20363963 DOI: 10.1177/0883073809346349  1
2009 Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Annals of Neurology. 66: 771-82. PMID 20035514 DOI: 10.1002/ana.21715  1
2009 Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, et al. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Human Molecular Genetics. 18: 2188-203. PMID 19324899 DOI: 10.1093/hmg/ddp151  1
2008 Ramocki MB, Zoghbi HY. Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature. 455: 912-8. PMID 18923513 DOI: 10.1038/nature07457  1
2008 Ramocki MB, Chapieski L, McDonald RO, Fernandez F, Malphrus AD. Spinocerebellar ataxia type 2 presenting with cognitive regression in childhood. Journal of Child Neurology. 23: 999-1001. PMID 18344458 DOI: 10.1177/0883073808315622  1
2004 Mitin NY, Ramocki MB, Zullo AJ, Der CJ, Konieczny SF, Taparowsky EJ. Identification and characterization of rain, a novel Ras-interacting protein with a unique subcellular localization. The Journal of Biological Chemistry. 279: 22353-61. PMID 15031288 DOI: 10.1074/jbc.M312867200  1
2003 Ramocki MB, Dowling J, Grinberg I, Kimonis VE, Cardoso C, Gross A, Chung J, Martin CL, Ledbetter DH, Dobyns WB, Millen KJ. Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32. European Journal of Human Genetics : Ejhg. 11: 527-34. PMID 12825074 DOI: 10.1038/sj.ejhg.5200995  1
2001 Mitin N, Ramocki MB, Konieczny SF, Taparowsky EJ. Ras regulation of skeletal muscle differentiation and gene expression. Methods in Enzymology. 333: 232-47. PMID 11400339 DOI: 10.1016/S0076-6879(01)33059-8  1
2001 Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, Pilz DT, Mills PL, Das S, Ross ME, Ledbetter DH, Dobyns WB. Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. European Journal of Human Genetics : Ejhg. 9: 5-12. PMID 11175293 DOI: 10.1038/sj.ejhg.5200548  1
2000 Cardoso C, Leventer RJ, Matsumoto N, Kuc JA, Ramocki MB, Mewborn SK, Dudlicek LL, May LF, Mills PL, Das S, Pilz DT, Dobyns WB, Ledbetter DH. The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Human Molecular Genetics. 9: 3019-28. PMID 11115846  1
1998 Ramocki MB, White MA, Konieczny SF, Taparowsky EJ. A role for RalGDS and a novel Ras effector in the Ras-mediated inhibition of skeletal myogenesis. The Journal of Biological Chemistry. 273: 17696-701. PMID 9651367 DOI: 10.1074/jbc.273.28.17696  1
1997 Ramocki MB, Johnson SE, White MA, Ashendel CL, Konieczny SF, Taparowsky EJ. Signaling through mitogen-activated protein kinase and Rac/Rho does not duplicate the effects of activated Ras on skeletal myogenesis. Molecular and Cellular Biology. 17: 3547-55. PMID 9199290  1
1997 Weyman CM, Ramocki MB, Taparowsky EJ, Wolfman A. Distinct signaling pathways regulate transformation and inhibition of skeletal muscle differentiation by oncogenic Ras. Oncogene. 14: 697-704. PMID 9038377 DOI: 10.1038/sj.onc.1200874  1
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