Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

Por Niranjan, Tejasvi S., Skinner, Cindy, May, Melanie, Turner, Tychele, Rose, Rebecca, Stevenson, Roger, Schwartz, Charles E., Wang, Tao
Publicado no PLoS One (2015)

Duplication of OCRL and Adjacent Genes Associated with Autism but not Lowe Syndrome

Por Schroer, Richard J., Beaudet, Arthur L., Shinawi, Marwan, Sahoo, Trilochan, Patel, Ankita, Sun, Qin, Skinner, Cindy, Stevenson, Roger E.
Publicado em 2012

Craniofacioskeletal Syndrome: An X-Linked Dominant Disorder With Early Lethality in Males

Por Stevenson, Roger E., Brasington, Cam K., Skinner, Cindy, Simensen, Richard J., Spence, J. Edward, Kesler, Shelli, Reiss, Allan L., Schwartz, Charles E.
Publicado em 2007

Decreased tryptophan metabolism in patients with autism spectrum disorders

Por Boccuto, Luigi, Chen, Chin-Fu, Pittman, Ayla R, Skinner, Cindy D, McCartney, Heather J, Jones, Kelly, Bochner, Barry R, Stevenson, Roger E, Schwartz, Charles E
Publicado em 2013

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

Por Mefford, Heather C., Cooper, Gregory M., Zerr, Troy, Smith, Joshua D., Baker, Carl, Shafer, Neil, Thorland, Erik C., Skinner, Cindy, Schwartz, Charles E., Nickerson, Deborah A., Eichler, Evan E.
Publicado em 2009

Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for t...

Por Godler, David E., Inaba, Yoshimi, Shi, Elva Z., Skinner, Cindy, Bui, Quang M., Francis, David, Amor, David J., Hopper, John L., Loesch, Danuta Z., Hagerman, Randi J., Schwartz, Charles E., Slater, Howard R.
Publicado em 2013

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome

Por Schenkel, Laila C., Kernohan, Kristin D., McBride, Arran, Reina, Ditta, Hodge, Amanda, Ainsworth, Peter J., Rodenhiser, David I., Pare, Guillaume, Bérubé, Nathalie G., Skinner, Cindy, Boycott, Kym M., Schwartz, Charles, Sadikovic, Bekim
Publicado no Epigenetics Chromatin (2017)

Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism

Por Mejias, Rebeca, Adamczyk, Abby, Anggono, Victor, Niranjan, Tejasvi, Thomas, Gareth M., Sharma, Kamal, Skinner, Cindy, Schwartz, Charles E., Stevenson, Roger E., Fallin, M. Daniele, Kaufmann, Walter, Pletnikov, Mikhail, Valle, David, Huganir, Richard L., Wang, Tao
Publicado em 2011

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis

Por Godler, David E., Inaba, Yoshimi, Schwartz, Charles E., Bui, Quang M., Shi, Elva Z., Li, Xin, Herlihy, Amy S., Skinner, Cindy, Hagerman, Randi J., Francis, David, Amor, David J., Metcalfe, Sylvia A., Hopper, John L., Slater, Howard R.
Publicado no Expert Rev Mol Med (2015)

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

Por Boccuto, Luigi, Lauri, Maria, Sarasua, Sara M, Skinner, Cindy D, Buccella, Daniela, Dwivedi, Alka, Orteschi, Daniela, Collins, Julianne S, Zollino, Marcella, Visconti, Paola, DuPont, Barb, Tiziano, Danilo, Schroer, Richard J, Neri, Giovanni, Stevenson, Roger E, Gurrieri, Fiorella, Schwartz, Charles E
Publicado em 2013

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C

Por Grafodatskaya, Daria, Chung, Barian HY, Butcher, Darci T, Turinsky, Andrei L, Goodman, Sarah J, Choufani, Sana, Chen, Yi-An, Lou, Youliang, Zhao, Chunhua, Rajendram, Rageen, Abidi, Fatima E, Skinner, Cindy, Stavropoulos, James, Bondy, Carolyn A, Hamilton, Jill, Wodak, Shoshana, Scherer, Stephen W, Schwartz, Charles E, Weksberg, Rosanna
Publicado em 2013

Deletions in chromosome 6p22.3-p24.3, including <it>ATXN1</it>, are associated with developmental delay and autism spectrum disorders

Por Celestino-Soper Patrícia BS, Skinner Cindy, Schroer Richard, Eng Patricia, Shenai Jayant, Nowaczyk Malgorzata MJ, Terespolsky Deborah, Cushing Donna, Patel Gayle S, Immken LaDonna, Willis Alecia, Wiszniewska Joanna, Matalon Reuben, Rosenfeld Jill A, Stevenson Roger E, Kang Sung-Hae L, Cheung Sau, Beaudet Arthur L, Stankiewicz Pawel
Publicado em 2012-04-01

Disruption of RAB40AL function leads to Martin–Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder

Por Bedoyan, Jirair Krikor, Schaibley, Valerie M, Peng, Weiping, Bai, Yongsheng, Mondal, Kajari, Shetty, Amol C, Durham, Mark, Micucci, Joseph A, Dhiraaj, Arti, Skidmore, Jennifer M, Kaplan, Julie B, Skinner, Cindy, Schwartz, Charles E, Antonellis, Anthony, Zwick, Michael E, Cavalcoli, James D, Li, Jun Z, Martin, Donna M
Publicado em 2012

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

Por Celestino-Soper, Patrícia BS, Skinner, Cindy, Schroer, Richard, Eng, Patricia, Shenai, Jayant, Nowaczyk, Malgorzata MJ, Terespolsky, Deborah, Cushing, Donna, Patel, Gayle S, Immken, LaDonna, Willis, Alecia, Wiszniewska, Joanna, Matalon, Reuben, Rosenfeld, Jill A, Stevenson, Roger E, Kang, Sung-Hae L, Cheung, Sau Wai, Beaudet, Arthur L, Stankiewicz, Pawel
Publicado em 2012

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Por Schwartz, Charles E, Tarpey, Patrick S, Lubs, Herbert A, Verloes, Alain, May, Melanie M, Risheg, Hiba, Friez, Michael J, Futreal, P Andrew, Edkins, Sarah, Teague, Jon, Briault, Sylvain, Skinner, Cindy, Bauer‐Carlin, Astrid, Simensen, Richard J, Joseph, Sumy M, Jones, Julie R, Gecz, Josef, Stratton, Michael R, Raymond, F Lucy, Stevenson, Roger E
Publicado em 2007

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

Por Giannandrea, Maila, Bianchi, Veronica, Mignogna, Maria Lidia, Sirri, Alessandra, Carrabino, Salvatore, D'Elia, Errico, Vecellio, Matteo, Russo, Silvia, Cogliati, Francesca, Larizza, Lidia, Ropers, Hans-Hilger, Tzschach, Andreas, Kalscheuer, Vera, Oehl-Jaschkowitz, Barbara, Skinner, Cindy, Schwartz, Charles E., Gecz, Jozef, Van Esch, Hilde, Raynaud, Martine, Chelly, Jamel, de Brouwer, Arjan P.M., Toniolo, Daniela, D'Adamo, Patrizia
Publicado em 2010

Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

Por Whibley, Annabel C., Plagnol, Vincent, Tarpey, Patrick S., Abidi, Fatima, Fullston, Tod, Choma, Maja K., Boucher, Catherine A., Shepherd, Lorraine, Willatt, Lionel, Parkin, Georgina, Smith, Raffaella, Futreal, P. Andrew, Shaw, Marie, Boyle, Jackie, Licata, Andrea, Skinner, Cindy, Stevenson, Roger E., Turner, Gillian, Field, Michael, Hackett, Anna, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Raymond, F. Lucy
Publicado em 2010

eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation

Por Borck, Guntram, Shin, Byung-Sik, Stiller, Barbara, Mimouni-Bloch, Aviva, Thiele, Holger, Kim, Joo-Ran, Thakur, Meghna, Skinner, Cindy, Aschenbach, Lara, Smirin-Yosef, Pola, Har-Zahav, Adi, Nürnberg, Gudrun, Altmüller, Janine, Frommolt, Peter, Hofmann, Kay, Konen, Osnat, Nürnberg, Peter, Munnich, Arnold, Schwartz, Charles E., Gothelf, Doron, Colleaux, Laurence, Dever, Thomas E., Kubisch, Christian, Basel-Vanagaite, Lina
Publicado em 2012

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons

Por May, Melanie, Hwang, Kyu-Seok, Miles, Judith, Williams, Charlie, Niranjan, Tejasvi, Kahler, Stephen G., Chiurazzi, Pietro, Steindl, Katharina, Van Der Spek, Peter J., Swagemakers, Sigrid, Mueller, Jennifer, Stefl, Shannon, Alexov, Emil, Ryu, Jeong-Im, Choi, Jung-Hwa, Kim, Hyun-Taek, Tarpey, Patrick, Neri, Giovanni, Holloway, Lynda, Skinner, Cindy, Stevenson, Roger E., Dorsky, Richard I., Wang, Tao, Schwartz, Charles E., Kim, Cheol-Hee
Publicado no Hum Mol Genet (2015)

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

Por Friez, Michael J, Brooks, Susan Sklower, Stevenson, Roger E, Field, Michael, Basehore, Monica J, Adès, Lesley C, Sebold, Courtney, McGee, Stephen, Saxon, Samantha, Skinner, Cindy, Craig, Maria E, Murray, Lucy, Simensen, Richard J, Yap, Ying Yzu, Shaw, Marie A, Gardner, Alison, Corbett, Mark, Kumar, Raman, Bosshard, Matthias, van Loon, Barbara, Tarpey, Patrick S, Abidi, Fatima, Gecz, Jozef, Schwartz, Charles E
Publicado no BMJ Open (2016)