Complex genomic rearrangements: an underestimated cause of rare diseases

por Schuy, Jakob, Grochowski, Christopher M., Carvalho, Claudia M.B., Lindstrand, Anna
Publicado 2022

Clinical and Genetic Characterization of Upper Extremity Anomalies in Robinow Syndrome

por Trost, Jeffrey, Abu-Ghname, Amjed, Davis, Matthew J., Cen, Nicholas, Guillen, Diana M., Sutton, Vernon Reid, Carvalho, Claudia M.B., Maricevich, Renata
Publicado 2020

Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

por Liu, Pengfei, Walter, Klaudia, Writzl, Karin, Gelowani, Violet, Lindsay, Sarah, Carvalho, Claudia MB, Withers, Marjorie, Wiszniewska, Joanna, Patel, Ankita, Rautenstrauss, Bernd, Hurles, Matthew E, Lupski, James R
Publicado 2012

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

Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis

por TCW, Julia, Carvalho, Claudia M.B., Yuan, Bo, Gu, Shen, Altheimer, Alyssa N., McCarthy, Shane, Malhotra, Dheeraj, Sebat, Jonathan, Siegel, Arthur J., Rudolph, Uwe, Lupski, James R., Levy, Deborah L., Brennand, Kristen J.
Publicado 2017

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

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

por Gambin, Tomasz, Akdemir, Zeynep C., Yuan, Bo, Gu, Shen, Chiang, Theodore, Carvalho, Claudia M.B., Shaw, Chad, Jhangiani, Shalini, Boone, Philip M., Eldomery, Mohammad K., Karaca, Ender, Bayram, Yavuz, Stray-Pedersen, Asbjørg, Muzny, Donna, Charng, Wu-Lin, Bahrambeigi, Vahid, Belmont, John W., Boerwinkle, Eric, Beaudet, Arthur L., Gibbs, Richard A., Lupski, James R.
Publicado 2017

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

por Duan, Ruizhi, Hijazi, Hadia, Gulec, Elif Yilmaz, Eker, Hatice Koçak, Costa, Silvia R., Sahin, Yavuz, Ocak, Zeynep, Isikay, Sedat, Ozalp, Ozge, Bozdogan, Sevcan, Aslan, Huseyin, Elcioglu, Nursel, Bertola, Débora R., Gezdirici, Alper, Du, Haowei, Fatih, Jawid M., Grochowski, Christopher M., Akay, Gulsen, Jhangiani, Shalini N., Karaca, Ender, Gu, Shen, Coban-Akdemir, Zeynep, Posey, Jennifer E., Bayram, Yavuz, Sutton, V. Reid, Carvalho, Claudia M.B., Pehlivan, Davut, Gibbs, Richard A., Lupski, James R.
Publicado 2022

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

por Zhang, Chaofan, Jolly, Angad, Shayota, Brian J., Mazzeu, Juliana F., Du, Haowei, Dawood, Moez, Soper, Patricia Celestino, Ramalho de Lima, Ariadne, Ferreira, Bárbara Merfort, Coban-Akdemir, Zeynep, White, Janson, Shears, Deborah, Thomson, Fraser Robert, Douglas, Sarah Louise, Wainwright, Andrew, Bailey, Kathryn, Wordsworth, Paul, Oldridge, Mike, Lester, Tracy, Calder, Alistair D., Dumic, Katja, Banka, Siddharth, Donnai, Dian, Jhangiani, Shalini N., Potocki, Lorraine, Chung, Wendy K., Mora, Sara, Northrup, Hope, Ashfaq, Myla, Rosenfeld, Jill A., Mason, Kati, Pollack, Lynda C., McConkie-Rosell, Allyn, Kelly, Wei, McDonald, Marie, Hauser, Natalie S., Leahy, Peter, Powell, Cynthia M., Boy, Raquel, Honjo, Rachel Sayuri, Kok, Fernando, Martelli, Lucia R., Filho, Vicente Odone, Genomics England Research Consortium, Muzny, Donna M., Gibbs, Richard A., Posey, Jennifer E., Liu, Pengfei, Lupski, James R., Sutton, V. Reid, Carvalho, Claudia M.B.
Publicado 2021