Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency

por Rudy, Natasha, Aoki, Kazuhiro, Ananth, Amitha, Holloway, Lynda, Skinner, Cindy, Hurst, Anna, Tiemeyer, Michael, Steet, Richard
Publicado 2022

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 2015

Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome

por Godler, David E., Inaba, Yoshimi, Bui, Minh Q., Francis, David, Skinner, Cindy, Schwartz, Charles E., Amor, David J.
Publicado 2023

Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C

por Schenkel, Laila C., Aref-Eshghi, Erfan, Skinner, Cindy, Ainsworth, Peter, Lin, Hanxin, Paré, Guillaume, Rodenhiser, David I., Schwartz, Charles, Sadikovic, Bekim
Publicado 2018

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder

por Cascio, Lauren, Chen, Chin‐Fu, Pauly, Rini, Srikanth, Sujata, Jones, Kelly, Skinner, Cindy D., Stevenson, Roger E., Schwartz, Charles E., Boccuto, Luigi
Publicado 2019

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 2013

Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type

por Haghshenas, Sadegheh, Levy, Michael A., Kerkhof, Jennifer, Aref-Eshghi, Erfan, McConkey, Haley, Balci, Tugce, Siu, Victoria Mok, Skinner, Cindy D., Stevenson, Roger E., Sadikovic, Bekim, Schwartz, Charles
Publicado 2021

A new test for autism spectrum disorder: Metabolic data from different cell types

por Srikanth, Sujata, Cascio, Lauren, Pauly, Rini, Jones, Kelly, Sorrow, Skylar, Cubillan, Rossana, Chen, Chin-Fu, Skinner, Cindy D., Champaigne, Kevin, Stevenson, Roger E., Schwartz, Charles E., Boccuto, Luigi
Publicado 2021

PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation

por Truong, Brittany T., Shull, Lomeli C., Lencer, Ezra, Bend, Eric G., Field, Michael, Blue, Elizabeth E., Bamshad, Michael J., Skinner, Cindy, Everman, David, Schwartz, Charles E., Flanagan-Steet, Heather, Artinger, Kristin B.
Publicado 2023

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation

por Abad, Clemer, Cook, Melissa M., Cao, Lei, Jones, Julie R., Rao, Nalini R., Dukes-Rimsky, Lynn, Pauly, Rini, Skinner, Cindy, Wang, Yunsheng, Luo, Feng, Stevenson, Roger E., Walz, Katherina, Srivastava, Anand K.
Publicado 2018

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 2017

Lysosomal Cholesterol Accumulation Contributes to the Movement Phenotypes Associated with NUS1 Haploinsufficiency

por Yu, Seok-Ho, Wang, Tong, Wiggins, Kali, Louie, Raymond J., Merino, Emilio F., Skinner, Cindy, Cassera, Maria B., Meagher, Kirsten, Goldberg, Paul, Rismanchi, Neggy, Chen, Dillon, Lyons, Michael J., Flanagan-Steet, Heather, Steet, Richard
Publicado 2021

Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders

por Srivastava, Siddharth, Niranjan, Tejasvi, May, Melanie M., Tarpey, Patrick, Allen, William, Hackett, Anna, Jouk, Pierre‐Simon, Raymond, Lucy, Briault, Slyvain, Skinner, Cindy, Toutain, Annick, Gecz, Jozef, Heath, William, Stevenson, Roger E., Schwartz, Charles E., Wang, Tao
Publicado 2019

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 2015

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 2013

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 2012

Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X-linked intellectual disability

por Lee, Yu-Ri, Thomas, Mervyn G., Roychaudhury, Arkaprava, Skinner, Cindy, Maconachie, Gail, Crosier, Moira, Horak, Holli, Constantinescu, Cris S., Choi, Tae-Ik, Kyung, Jae-Jun, Wang, Tao, Ku, Bonsu, Chodirker, Bernard N, Hammer, Michael F., Gottlob, Irene, Norton, William H. J., Chudley, Albert E., Schwartz, Charles E., Kim, Cheol-Hee
Publicado 2023

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 2012

Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities

por Aprigliano, Rossana, Aksu, Merdane Ezgi, Bradamante, Stefano, Mihaljevic, Boris, Wang, Wei, Rian, Kristin, Montaldo, Nicola P., Grooms, Kayla Mae, Fordyce Martin, Sarah L., Bordin, Diana L., Bosshard, Matthias, Peng, Yunhui, Alexov, Emil, Skinner, Cindy, Liabakk, Nina-Beate, Sullivan, Gareth J., Bjørås, Magnar, Schwartz, Charles E., van Loon, Barbara
Publicado 2021

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow

por Godler, David E., Ling, Ling, Gamage, Dinusha, Baker, Emma K., Bui, Minh, Field, Michael J., Rogers, Carolyn, Butler, Merlin G., Murgia, Alessandra, Leonardi, Emanuela, Polli, Roberta, Schwartz, Charles E., Skinner, Cindy D., Alliende, Angelica M., Santa Maria, Lorena, Pitt, James, Greaves, Ronda, Francis, David, Oertel, Ralph, Wang, Min, Simons, Cas, Amor, David J.
Publicado 2022