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 2013

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 2012

Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region

por Moufawad El Achkar, Christelle, Rosen, Alyssa, Kessler, Sudha Kilaru, Steinman, Kyle J., Spence, Sarah J., Ramocki, Melissa, Marco, Elysa Jill, Green Snyder, LeeAnne, Spiro, John E., Chung, Wendy K., Annapurna, Poduri, Sherr, Elliott H.
Publicado 2022

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 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 2015

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 2011

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 2012