Interstitial microdeletion of the 1p34.3p34.2 region

por Jacher, Joseph E., Innis, Jeffrey W.
Publicado 2018

A genomic approach to the identification and characterization of HOXA13 functional binding elements

por McCabe, Colleen D., Innis, Jeffrey W.
Publicado 2005

Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay

por Tayeh, Marwan K, Rocco, Tracy, Ackley, Todd, Ernst, Leslie, Glover, Thomas, Innis, Jeffrey W
Publicado 2015

Group 13 HOX proteins interact with the MH2 domain of R-Smads and modulate Smad transcriptional activation functions independent of HOX DNA-binding capability

por Williams, Thomas M., Williams, Melissa E., Heaton, Joanne H., Gelehrter, Thomas D., Innis, Jeffrey W.
Publicado 2005

Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic

por Parekh, Bela, Beil, Adelyn, Blevins, Bridget, Jacobson, Adam, Williams, Pamela, Innis, Jeffrey W., Barone Pritchard, Amanda, Prasov, Lev
Publicado 2023

A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification

por Serpen, Jasmine Y., Presley, William, Beil, Adelyn, Armenti, Stephen T., Johnson, Kayla, Mian, Shahzad I., Innis, Jeffrey W., Prasov, Lev
Publicado 2023

Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability

por Tayeh, Marwan K., DeVaul, Janean, LeSueur, Kristin, Yang, Chen, Bedoyan, Jirair K., Thomas, Peedikayil, Hannibal, Mark C., Innis, Jeffrey W.
Publicado 2022

Natural history of ROHHAD syndrome: development of severe insulin resistance and fatty liver disease over time

por Jalal Eldin, Abdel Wahab, Tombayoglu, Dilara, Butz, Laura, Affinati, Alison, Meral, Rasimcan, Ontan, Mehmet Selman, Walkovich, Kelly, Westerhoff, Maria, Innis, Jeffrey W., Parikh, Neehar D., Oral, Elif A.
Publicado 2019

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes

por Mullegama, Sureni V., Klein, Steven D., Williams, Stephen R., Innis, Jeffrey W., Probst, Frank J., Haldeman-Englert, Chad, Martinez-Agosto, Julian A., Yang, Ying, Tian, Yuchen, Elsea, Sarah H., Ezashi, Toshihiko
Publicado 2021

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

por Reis, Linda M., Tyler, Rebecca C., Schilter, Kala F., Abdul-Rahman, Omar, Innis, Jeffrey W., Kozel, Beth A., Schneider, Adele S., Bardakjian, Tanya M., Lose, Edward J., Martin, Donna M., Broeckel, Ulrich, Semina, Elena V.
Publicado 2011

Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis

por Sahinoz, Melis, Khairi, Shafaq, Cuttitta, Ashley, Brady, Graham F., Rupani, Amit, Meral, Rasimcan, Tayeh, Marwan K., Thomas, Peedikayil, Riebschleger, Meredith, Camelo-Piragua, Sandra, Innis, Jeffrey W., Bishr Omary, M., Michele, Daniel E., Oral, Elif A.
Publicado 2018

A Novel Intergenic ETnII-β Insertion Mutation Causes Multiple Malformations in Polypodia Mice

por Lehoczky, Jessica A., Thomas, Peedikayil E., Patrie, Kevin M., Owens, Kailey M., Villarreal, Lisa M., Galbraith, Kenneth, Washburn, Joe, Johnson, Craig N., Gavino, Bryant, Borowsky, Alexander D., Millen, Kathleen J., Wakenight, Paul, Law, William, Van Keuren, Margaret L., Gavrilina, Galina, Hughes, Elizabeth D., Saunders, Thomas L., Brihn, Lesil, Nadeau, Joseph H., Innis, Jeffrey W.
Publicado 2013

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing

por Ziats, Mark N., Ahmad, Ayesha, Bernat, John A., Fisher, Rachel, Glassford, Megan, Hannibal, Mark C., Jacher, Joseph E., Weiser, Natasha, Keegan, Catherine E., Lee, Kristen N., Marzulla, Tessa B., O’Connor, Bridget C., Quinonez, Shane C., Seemann, Lauren, Turner, Lauren, Bielas, Stephanie, Harris, Nicholas L., Ogle, Jacob D., Innis, Jeffrey W., Martin, Donna M.
Publicado 2019

AHDC1 missense mutations in Xia-Gibbs syndrome

por Khayat, Michael M., Hu, Jianhong, Jiang, Yunyun, Li, He, Chander, Varuna, Dawood, Moez, Hansen, Adam W., Li, Shoudong, Friedman, Jennifer, Cross, Laura, Bijlsma, Emilia K., Ruivenkamp, Claudia A.L., Sansbury, Francis H., Innis, Jeffrey W., Omark O’Shea, Jessica, Meng, Qingchang, Rosenfeld, Jill A., McWalter, Kirsty, Wangler, Michael F., Lupski, James R., Posey, Jennifer E., Murdock, David, Gibbs, Richard A.
Publicado 2021

The SRG rat, a Sprague-Dawley Rag2/Il2rg double-knockout validated for human tumor oncology studies

por Noto, Fallon K., Sangodkar, Jaya, Adedeji, Bisoye Towobola, Moody, Sam, McClain, Christopher B., Tong, Ming, Ostertag, Eric, Crawford, Jack, Gao, Xiaohua, Hurst, Lauren, O’Connor, Caitlin M., Hanson, Erika N., Izadmehr, Sudeh, Tohmé, Rita, Narla, Jyothsna, LeSueur, Kristin, Bhattacharya, Kajari, Rupani, Amit, Tayeh, Marwan K., Innis, Jeffrey W., Galsky, Matthew D., Evers, B. Mark, DiFeo, Analisa, Narla, Goutham, Jamling, Tseten Y.
Publicado 2020

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

por Bryant, Laura, Li, Dong, Cox, Samuel G., Marchione, Dylan, Joiner, Evan F., Wilson, Khadija, Janssen, Kevin, Lee, Pearl, March, Michael E., Nair, Divya, Sherr, Elliott, Fregeau, Brieana, Wierenga, Klaas J., Wadley, Alexandrea, Mancini, Grazia M. S., Powell-Hamilton, Nina, van de Kamp, Jiddeke, Grebe, Theresa, Dean, John, Ross, Alison, Crawford, Heather P., Powis, Zoe, Cho, Megan T., Willing, Marcia C., Manwaring, Linda, Schot, Rachel, Nava, Caroline, Afenjar, Alexandra, Lessel, Davor, Wagner, Matias, Klopstock, Thomas, Winkelmann, Juliane, Catarino, Claudia B., Retterer, Kyle, Schuette, Jane L., Innis, Jeffrey W., Pizzino, Amy, Lüttgen, Sabine, Denecke, Jonas, Strom, Tim M., Monaghan, Kristin G., Yuan, Zuo-Fei, Dubbs, Holly, Bend, Renee, Lee, Jennifer A., Lyons, Michael J., Hoefele, Julia, Günthner, Roman, Reutter, Heiko, Keren, Boris, Radtke, Kelly, Sherbini, Omar, Mrokse, Cameron, Helbig, Katherine L., Odent, Sylvie, Cogne, Benjamin, Mercier, Sandra, Bezieau, Stephane, Besnard, Thomas, Kury, Sebastien, Redon, Richard, Reinson, Karit, Wojcik, Monica H., Õunap, Katrin, Ilves, Pilvi, Innes, A. Micheil, Kernohan, Kristin D., Costain, Gregory, Meyn, M. Stephen, Chitayat, David, Zackai, Elaine, Lehman, Anna, Kitson, Hilary, Martin, Martin G., Martinez-Agosto, Julian A., Nelson, Stan F., Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Sinsheimer, Janet S., Vilain, Eric, Wan, Jijun, Yoon, Amanda J., Zheng, Allison, Brimble, Elise, Ferrero, Giovanni Battista, Radio, Francesca Clementina, Carli, Diana, Barresi, Sabina, Brusco, Alfredo, Tartaglia, Marco, Thomas, Jennifer Muncy, Umana, Luis, Weiss, Marjan M., Gotway, Garrett, Stuurman, K. E., Thompson, Michelle L., McWalter, Kirsty, Stumpel, Constance T. R. M., Stevens, Servi J. C., Stegmann, Alexander P. A., Tveten, Kristian, Vøllo, Arve, Prescott, Trine, Fagerberg, Christina, Laulund, Lone Walentin, Larsen, Martin J., Byler, Melissa, Lebel, Robert Roger, Hurst, Anna C., Dean, Joy, Schrier Vergano, Samantha A., Norman, Jennifer, Mercimek-Andrews, Saadet, Neira, Juanita, Van Allen, Margot I., Longo, Nicola, Sellars, Elizabeth, Louie, Raymond J., Cathey, Sara S., Brokamp, Elly, Heron, Delphine, Snyder, Molly, Vanderver, Adeline, Simon, Celeste, de la Cruz, Xavier, Padilla, Natália, Crump, J. Gage, Chung, Wendy, Garcia, Benjamin, Hakonarson, Hakon H., Bhoj, Elizabeth J.
Publicado 2020