Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

por Sajan, Samin A., Powis, Zöe, Helbig, Katherine L., Nagakura, Honey, Immken, Ladonna, Tang, Sha, Alcaraz, Wendy A.
Publicado 2018

Large Scale Gene Expression Profiles of Regenerating Inner Ear Sensory Epithelia

por Hawkins, R. David, Bashiardes, Stavros, Powder, Kara E., Sajan, Samin A., Bhonagiri, Veena, Alvarado, David M., Speck, Judith, Warchol, Mark E., Lovett, Michael
Publicado 2007

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

por Paciorkowski, Alex R, Keppler-Noreuil, Kim, Robinson, Luther, Sullivan, Christopher, Sajan, Samin, Christian, Susan L, Bukshpun, Polina, Gabriel, Stacy B, Gleeson, Joseph G, Sherr, Elliott H, Dobyns, William B
Publicado 2013

A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses

por Smith, Erica D., Blanco, Kirsten, Sajan, Samin A., Hunter, Jesse M., Shinde, Deepali N., Wayburn, Bess, Rossi, Mari, Huang, Jennifer, Stevens, Cathy A., Muss, Candace, Alcaraz, Wendy, Hagman, Kelly D. Farwell, Tang, Sha, Radtke, Kelly
Publicado 2019

Enrichment of mutations in chromatin regulators in people with Rett Syndrome lacking mutations in MECP2

por Sajan, Samin A., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Glaze, Daniel G., Kaufmann, Walter E., Skinner, Steven A., Anese, Fran, Friez, Michael J., Jane, Lane, Percy, Alan K., Neul, Jeffrey L.
Publicado 2016

Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria

por Sajan, Samin A., Fernandez, Liliana, Nieh, Sahar Esmaeeli, Rider, Eric, Bukshpun, Polina, Wakahiro, Mari, Christian, Susan L., Rivière, Jean-Baptiste, Sullivan, Christopher T., Sudi, Jyotsna, Herriges, Michael J., Paciorkowski, Alexander R., Barkovich, A. James, Glessner, Joseph T., Millen, Kathleen J., Hakonarson, Hakon, Dobyns, William B., Sherr, Elliott H.
Publicado 2013

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

por Farwell Hagman, Kelly D., Shinde, Deepali N., Mroske, Cameron, Smith, Erica, Radtke, Kelly, Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C., Alcaraz, Wendy A., Helbig, Katherine L., Sajan, Samin A., Rossi, Mari, Lu, Hsiao-Mei, Huether, Robert, Li, Shuwei, Wu, Sitao, Nuñes, Mark E., Tang, Sha
Publicado 2017

Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

por Farwell Hagman, Kelly D, Shinde, Deepali N, Mroske, Cameron, Smith, Erica, Radtke, Kelly, Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C, Alcaraz, Wendy A, Helbig, Katherine L, Sajan, Samin A, Rossi, Mari, Lu, Hsiao-Mei, Huether, Robert, Li, Shuwei, Wu, Sitao, Nuñes, Mark E, Tang, Sha
Publicado 2018

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

por Mirzaa, Ghayda, Chong, Jessica X., Piton, Amélie, Popp, Bernt, Foss, Kimberly, Guo, Hui, Harripaul, Ricardo, Xia, Kun, Scheck, Joshua, Aldinger, Kimberly A., Sajan, Samin A., Tang, Sha, Bonneau, Dominique, Beck, Anita, White, Janson, Mahida, Sonal, Harris, Jacqueline, Smith-Hicks, Constance, Hoyer, Juliane, Zweier, Christiane, Reis, André, Thiel, Christian T., Jamra, Rami Abou, Zeid, Natasha, Yang, Amy, Farach, Laura S., Walsh, Laurence, Payne, Katelyn, Rohena, Luis, Velinov, Milen, Ziegler, Alban, Schaefer, Elise, Gatinois, Vincent, Geneviève, David, Simon, Marleen E.H., Kohler, Jennefer, Rotenberg, Joshua, Wheeler, Patricia, Larson, Austin, Ernst, Michelle E., Akman, Cigdem I., Westman, Rachel, Blanchet, Patricia, Schillaci, Lori-Anne, Vincent-Delorme, Catherine, Gripp, Karen W., Mattioli, Francesca, Guyader, Gwenaël Le, Gerard, Bénédicte, Mathieu-Dramard, Michèle, Morin, Gilles, Sasanfar, Roksana, Ayub, Muhammad, Vasli, Nasim, Yang, Sandra, Person, Rick, Monaghan, Kristin G., Nickerson, Deborah A., van Binsbergen, Ellen, Enns, Gregory M, Dries, Annika M, Rowe, Leah J, Tsai, Anne CH, Svihovec, Shayna, Friedman, Jennifer, Agha, Zehra, Qamar, Raheel, Rodan, Lance H., Martinez-Agosto, Julian, Ockeloen, Charlotte W., Vincent, Marie, Sunderland, William James, Bernstein, Jonathan A., Eichler, Evan E., Vincent, John B., Bamshad, Michael J.
Publicado 2019