Search Results - "RAMOCKI, Melissa B"

The MECP2 duplication syndrome by Ramocki, Melissa B., Tavyev, Y. Jane, Peters, Sarika U.

“…In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features of the MECP2 duplication syndrome, including considerations for…”
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16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort by Steinman, Kyle J., Spence, Sarah J., Ramocki, Melissa B., Proud, Monica B., Kessler, Sudha K., Marco, Elysa J., Green Snyder, LeeAnne, D'Angelo, Debra, Chen, Qixuan, Chung, Wendy K., Sherr, Elliott H.

“…Chromosome 16p11.2 deletions and duplications are among the most frequent genetic etiologies of autism spectrum disorder (ASD) and other neurodevelopmental…”
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Replicative mechanisms for CNV formation are error prone by Carvalho, Claudia M B, Pehlivan, Davut, Ramocki, Melissa B, Fang, Ping, Alleva, Benjamin, Franco, Luis M, Belmont, John W, Hastings, P J, Lupski, James R

“…James Lupski and colleagues report a high-resolution analysis of 67 breakpoint junctions in 31 unrelated individuals with MECP2 duplication syndrome. They find…”
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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome by Ramocki, Melissa B, Lupski, James R, Carvalho, Claudia M B, Pehlivan, Davut, Franco, Luis M, Gonzaga-Jauregui, Claudia, Fang, Ping, McCall, Alanna, Pivnick, Eniko Karman, Hines-Dowell, Stacy, Seaver, Laurie H, Friehling, Linda, Lee, Sansan, Smith, Rosemarie, del Gaudio, Daniela, Withers, Marjorie, Liu, Pengfei, Cheung, Sau Wai, Belmont, John W, Zoghbi, Huda Y, Hastings, P J

“…Jim Lupski and colleagues report characterization of complex genomic rearrangements at the MECP2 and PLP1 loci. They show that all the complex rearrangement…”
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Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes by Carvalho, Claudia M.B., Vasanth, Shivakumar, Shinawi, Marwan, Russell, Chad, Ramocki, Melissa B., Brown, Chester W., Graakjaer, Jesper, Skytte, Anne-Bine, Vianna-Morgante, Angela M., Krepischi, Ana C.V., Patel, Gayle S., Immken, LaDonna, Aleck, Kyrieckos, Lim, Cynthia, Cheung, Sau Wai, Rosenberg, Carla, Katsanis, Nicholas, Lupski, James R.

“…The 17p13.1 microdeletion syndrome is a recently described genomic disorder with a core clinical phenotype of intellectual disability, poor to absent speech,…”
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Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy by Campbell, Ian M, Rao, Mitchell, Arredondo, Sean D, Lalani, Seema R, Xia, Zhilian, Kang, Sung-Hae L, Bi, Weimin, Breman, Amy M, Smith, Janice L, Bacino, Carlos A, Beaudet, Arthur L, Patel, Ankita, Cheung, Sau Wai, Lupski, James R, Stankiewicz, Paweł, Ramocki, Melissa B, Shaw, Chad A

“…Curation and interpretation of copy number variants identified by genome-wide testing is challenged by the large number of events harbored in each personal…”
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Failure of neuronal homeostasis results in common neuropsychiatric phenotypes by Ramocki, Melissa B, Zoghbi, Huda Y

“…Failure of normal brain development leads to mental retardation or autism in about 3% of children. Many genes integral to pathways by which synaptic…”
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A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype by Hanchard, Neil A, Carvalho, Claudia M B, Bader, Patricia, Thome, Aaron, Omo-Griffith, Lisa, del Gaudio, Daniela, Pehlivan, Davut, Fang, Ping, Schaaf, Christian P, Ramocki, Melissa B, Lupski, James R, Cheung, Sau Wai

“…Duplications of the X-linked MECP2 gene are associated with moderate to severe intellectual disability, epilepsy, and neuropsychiatric illness in males, while…”
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Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome by Ramocki, Melissa B., Peters, Sarika U., Tavyev, Y. Jane, Zhang, Feng, Carvalho, Claudia M. B., Schaaf, Christian P., Richman, Ronald, Fang, Ping, Glaze, Daniel G., Lupski, James R., Zoghbi, Huda Y.

“…Objective There have been no objective assessments to determine whether boys with MECP2 duplication have autism or whether female carriers manifest phenotypes…”
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Identification and Characterization of Rain, a Novel Ras-interacting Protein with a Unique Subcellular Localization by Mitin, Natalia Y, Ramocki, Melissa B, Zullo, Alfred J, Der, Channing J, Konieczny, Stephen F, Taparowsky, Elizabeth J

“…The Ras small GTPase functions as a signaling node and is activated by extracellular stimuli. Upon activation, Ras interacts with a spectrum of functionally…”
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Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching by Carvalho, Claudia M.B., Zhang, Feng, Liu, Pengfei, Patel, Ankita, Sahoo, Trilochan, Bacino, Carlos A., Shaw, Chad, Peacock, Sandra, Pursley, Amber, Tavyev, Y. Jane, Ramocki, Melissa B., Nawara, Magdalena, Obersztyn, Ewa, Vianna-Morgante, Angela M., Stankiewicz, Pawel, Zoghbi, Huda Y., Cheung, Sau Wai, Lupski, James R.

“…Duplication at the Xq28 band including the MECP2 gene is one of the most common genomic rearrangements identified in neurodevelopmentally delayed males. Such…”
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Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses by Yang, Tianshu, Ramocki, Melissa B, Neul, Jeffrey L, Lu, Wen, Roberts, Luz, Knight, John, Ward, Christopher S, Zoghbi, Huda Y, Kheradmand, Farrah, Corry, David B

“…The DNA binding protein methyl-CpG binding protein 2 (MeCP2) critically influences neuronal and brain function by modulating gene expression, and children with…”
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Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems by Ramocki, Melissa B., Bartnik, Magdalena, Szafranski, Przemyslaw, Kołodziejska, Katarzyna E., Xia, Zhilian, Bravo, Jaclyn, Miller, G. Steve, Rodriguez, Diana L., Williams, Charles A., Bader, Patricia I., Szczepanik, Elżbieta, Mazurczak, Tomasz, Antczak-Marach, Dorota, Coldwell, James G., Akman, Cigdem I., McAlmon, Karen, Cohen, Melinda P., McGrath, James, Roeder, Elizabeth, Mueller, Jennifer, Kang, Sung-Hae L., Bacino, Carlos A., Patel, Ankita, Bocian, Ewa, Shaw, Chad A., Cheung, Sau Wai, Mazurczak, Tadeusz, Stankiewicz, Paweł

“…We report 26 individuals from ten unrelated families who exhibit variable expression and/or incomplete penetrance of epilepsy, learning difficulties,…”
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The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism by Peters, Sarika U., Hundley, Rachel J., Wilson, Amy K., Warren, Zachary, Vehorn, Alison, Carvalho, Claudia M.B., Lupski, James R., Ramocki, Melissa B.

“…Alterations in the X‐linked gene MECP2 encoding the methyl‐CpG‐binding protein 2 have been linked to autism spectrum disorders (ASDs). Most recently, data…”
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Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria by Murdock, David R., Clark, Gary D., Bainbridge, Matthew N., Newsham, Irene, Wu, Yuan-Qing, Muzny, Donna M., Cheung, Sau Wai, Gibbs, Richard A., Ramocki, Melissa B.

“…Polymicrogyria is a disorder of neuronal development resulting in structurally abnormal cerebral hemispheres characterized by over‐folding and abnormal…”
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MECP2 duplications in six patients with complex sex chromosome rearrangements by BREMAN, Amy M, RAMOCKI, Melissa B, KANG, Sung-Hae L, WILLIAMS, Misti, FREEDENBERG, Debra, PATEL, Ankita, BADER, Patricia I, WAI CHEUNG, Sau

“…Duplications of the Xq28 chromosome region resulting in functional disomy are associated with a distinct clinical phenotype characterized by infantile…”
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Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2 by Ramocki, Melissa B., Scaglia, Fernando, Stankiewicz, Pawel, Belmont, John W., Jones, Jeremy Y., Clark, Gary D.

“…Rhombencephalosynapsis (RES) is a rare congenital brain malformation typically identified by magnetic resonance imaging and characterized by fusion of the…”
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TGFBR2 deletion in a 20‐month‐old female with developmental delay and microcephaly by Campbell, Ian M., Kolodziejska, Katarzyna E., Quach, Michael M., Wolf, Varina Louise, Cheung, Sau Wai, Lalani, Seema R., Ramocki, Melissa B., Stankiewicz, Pawel

“…To date, over 70 mutations in the TGFBR2 gene have been reported in patients with Loeys–Dietz syndrome (LDS), Marfan syndrome type 2 (MFS2), or other…”
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Bilateral In Utero Cerebellar Infarction by Ansari, Safdar A., Hunter, Jill V., Nassif, Lisa M., Clark, Gary D., Ramocki, Melissa B.

“…We report a case of complete bilateral cerebellar infarction diagnosed in utero by routine prenatal ultrasound and magnetic resonance imaging in a 26-week-old…”
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MECP2 duplications in six patients with complex sex chromosome rearrangements by Breman, Amy M, Ramocki, Melissa B, Kang, Sung-hae L, Williams, Misti, Freedenberg, Debra, Patel, Ankita, Bader, Patricia I, Cheung, Sau Wai

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