Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

Por Ramocki, Melissa B., Zoghbi, Huda Y.
Publicado em 2008

The MECP2 Duplication Syndrome

Por Ramocki, Melissa B., Tavyev, Y. Jane, Peters, Sarika U.
Publicado em 2010

SCA2 Presenting With Cognitive Regression in Childhood

Por Ramocki, Melissa B., Chapieski, Lynn, McDonald, Ryan O., Fernandez, Fabio, Malphrus, Amy D.
Publicado em 2008

Bilateral In Utero Cerebellar Infarction

Por Ansari, Safdar A., Hunter, Jill V., Nassif, Lisa M., Clark, Gary D., Ramocki, Melissa B.
Publicado em 2011

Recurrent Partial Rhombencephalosynapsis and Holoprosencephaly in Siblings with a Mutation of ZIC2

Por Ramocki, Melissa B., Scaglia, Fernando, Stankiewicz, Pawel, Belmont, John W., Jones, Jeremy Y., Clark, Gary D.
Publicado em 2011

MECP2 duplications in six patients with complex sex chromosome rearrangements

Por Breman, Amy M, Ramocki, Melissa B, Kang, Sung-Hae L, Williams, Misti, Freedenberg, Debra, Patel, Ankita, Bader, Patricia I, Cheung, Sau Wai
Publicado em 2011

MECP2 duplications in six patients with complex sex chromosome rearrangements

Por Breman, Amy M, Ramocki, Melissa B, Kang, Sung-Hae L, Williams, Misti, Freedenberg, Debra, Patel, Ankita, Bader, Patricia I, Cheung, Sau Wai
Publicado em 2011

TGFBR2 Deletion in a 20-Month-Old Female With Developmental Delay and Microcephaly

Por Campbell, Ian M., Kolodziejska, Katarzyna E., Quach, Michael M., Wolf, Varina Louise, Cheung, Sau Wai, Lalani, Seema R., Ramocki, Melissa B., Stankiewicz, Pawel
Publicado em 2011

Overexpression of Methyl-CpG Binding Protein 2 Impairs T(H)1 Responses

Por 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.
Publicado em 2012

Replicative mechanisms for CNV formation are error prone

Por 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.
Publicado em 2013

Whole-Exome Sequencing Identifies Compound Heterozygous Mutations in WDR62 in Siblings With Recurrent Polymicrogyria

Por 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.
Publicado em 2011

Autism and other Neuropsychiatric Symptoms are Prevalent in Individuals with MECP2 Duplication Syndrome

Por Ramocki, Melissa B., Peters, Sarika U., Tavyev, Y. Jane, Zhang, Feng, Carvalho, Claudia M. B., Schaaf, Christian P., Fang, Ronald Richman, Ping, Glaze, Daniel G., Lupski, James R., Zoghbi, Huda Y.
Publicado em 2009

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

Por Hanchard, Neil A, Carvalho, Claudia MB, 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
Publicado em 2012

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Por 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.
Publicado em 2009

Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy

Por 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.
Publicado em 2013

Altered neuronal network and rescue in a human MECP2 duplication model

Por Nageshappa, Savitha, Carromeu, Cassiano, Trujillo, Cleber A., Mesci, Pinar, Espuny-Camacho, Ira, Pasciuto, Emanuela, Vanderhaeghen, Pierre, Verfaillie, Catherine, Raitano, Susanna, Kumar, Anujith, Carvalho, Claudia M.B., Bagni, Claudia, Ramocki, Melissa B., Araujo, Bruno H. S., Torres, Laila B., Lupski, James R., Van Esch, Hilde, Muotri, Alysson R.
Publicado no Mol Psychiatry (2015)

Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes

Por 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.
Publicado no Am J Hum Genet (2014)

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

Por Carvalho, Claudia M. B., Ramocki, Melissa B., Pehlivan, Davut, Franco, Luis M., Gonzaga-Jauregui, Claudia, Fang, Ping, McCall, Alanna, Pivnick, Eniko Karman, Hines-Dowell, Stacy, Seaver, Laurie, 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., Lupski, James R.
Publicado em 2011

Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems

Por 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
Publicado em 2010

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Por Zufferey, Flore, Sherr, Elliott H, Beckmann, Noam D, Hanson, Ellen, Maillard, Anne M, Hippolyte, Loyse, Macé, Aurélien, Ferrari, Carina, Kutalik, Zoltán, Andrieux, Joris, Aylward, Elizabeth, Barker, Mandy, Bernier, Raphael, Bouquillon, Sonia, Conus, Philippe, Delobel, Bruno, Faucett, W Andrew, Goin-Kochel, Robin P, Grant, Ellen, Harewood, Louise, Hunter, Jill V, Lebon, Sébastien, Ledbetter, David H, Martin, Christa Lese, Männik, Katrin, Martinet, Danielle, Mukherjee, Pratik, Ramocki, Melissa B, Spence, Sarah J, Steinman, Kyle J, Tjernagel, Jennifer, Spiro, John E, Reymond, Alexandre, Beckmann, Jacques S, Chung, Wendy K, Jacquemont, Sébastien
Publicado em 2012