Evaluating a general pediatric/adult genetic counseling clinic in a Midwest medical center

por King, Charlie, Nielsen, Shelly, Schmanski, Andrew, Abdul‐Rahman, Omar, Fishler, Kristen P.
Publicado 2022

Combined Treatment of MCF-7 Cells with AICAR and Methotrexate, Arrests Cell Cycle and Reverses Warburg Metabolism through AMP-Activated Protein Kinase (AMPK) and FOXO1

por Fodor, Tamás, Szántó, Magdolna, Abdul-Rahman, Omar, Nagy, Lilla, Dér, Ádám, Kiss, Borbála, Bai, Peter
Publicado 2016

Altered gene expression profiles in the hippocampus and prefrontal cortex of type 2 diabetic rats

por Abdul-Rahman, Omar, Sasvari-Szekely, Maria, Ver, Agota, Rosta, Klara, Szasz, Bernadett K, Kereszturi, Eva, Keszler, Gergely
Publicado 2012

Isolation and molecular characterization of type I and type II feline coronavirus in Malaysia

por Amer, Alazawy, Siti Suri, Arshad, Abdul Rahman, Omar, Mohd, Hair Bejo, Faruku, Bande, Saeed, Sharif, Tengku Azmi, Tengku Ibrahim
Publicado 2012

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

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes

por Reis, Linda M., Tyler, Rebecca C., Weh, Eric, Hendee, Kathryn E., Kariminejad, Ariana, Abdul-Rahman, Omar, Ben-Omran, Tawfeg, Manning, Melanie A., Yesilyurt, Ahmet, McCarty, Catherine A., Kitchner, Terrie E., Costakos, Deborah, Semina, Elena V.
Publicado 2016

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

por Reisch, Nicole, Idkowiak, Jan, Hughes, Beverly A., Ivison, Hannah E., Abdul-Rahman, Omar A., Hendon, Laura G., Olney, Ann Haskins, Nielsen, Shelly, Harrison, Rachel, Blair, Edward M., Dhir, Vivek, Krone, Nils, Shackleton, Cedric H. L., Arlt, Wiebke
Publicado 2013

AMP-Activated Kinase (AMPK) Activation by AICAR in Human White Adipocytes Derived from Pericardial White Adipose Tissue Stem Cells Induces a Partial Beige-Like Phenotype

por Abdul-Rahman, Omar, Kristóf, Endre, Doan-Xuan, Quang-Minh, Vida, András, Nagy, Lilla, Horváth, Ambrus, Simon, József, Maros, Tamás, Szentkirályi, István, Palotás, Lehel, Debreceni, Tamás, Csizmadia, Péter, Szerafin, Tamás, Fodor, Tamás, Szántó, Magdolna, Tóth, Attila, Kiss, Borbála, Bacsó, Zsolt, Bai, Péter
Publicado 2016

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe dise...

por Kazi, Zoheb B., Desai, Ankit K., Troxler, R. Bradley, Kronn, David, Packman, Seymour, Sabbadini, Marta, Rizzo, William B., Scherer, Katalin, Abdul-Rahman, Omar, Tanpaiboon, Pranoot, Nampoothiri, Sheela, Gupta, Neerja, Feigenbaum, Annette, Niyazov, Dmitriy M., Langston, Sherry, Segel, Reeval, McVie-Wylie, Alison, Sung, Crystal, Joseph, Alexandra M., Richards, Susan, Kishnani, Priya S.
Publicado 2018

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

por Chater-Diehl, Eric, Ejaz, Resham, Cytrynbaum, Cheryl, Siu, Michelle T., Turinsky, Andrei, Choufani, Sanaa, Goodman, Sarah J., Abdul-Rahman, Omar, Bedford, Melanie, Dorrani, Naghmeh, Engleman, Kendra, Flores-Daboub, Josue, Genevieve, David, Mendoza-Londono, Roberto, Meschino, Wendy, Perrin, Laurence, Safina, Nicole, Townshend, Sharron, Scherer, Stephen W., Anagnostou, Evdokia, Piton, Amelie, Deardorff, Matthew, Brudno, Michael, Chitayat, David, Weksberg, Rosanna
Publicado 2019

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

por Eldomery, Mohammad K., Akdemir, Zeynep C., Vögtle, F.-Nora, Charng, Wu-Lin, Mulica, Patrycja, Rosenfeld, Jill A., Gambin, Tomasz, Gu, Shen, Burrage, Lindsay C., Al Shamsi, Aisha, Penney, Samantha, Jhangiani, Shalini N., Zimmerman, Holly H., Muzny, Donna M., Wang, Xia, Tang, Jia, Medikonda, Ravi, Ramachandran, Prasanna V., Wong, Lee-Jun, Boerwinkle, Eric, Gibbs, Richard A., Eng, Christine M., Lalani, Seema R., Hertecant, Jozef, Rodenburg, Richard J., Abdul-Rahman, Omar A., Yang, Yaping, Xia, Fan, Wang, Meng C., Lupski, James R., Meisinger, Chris, Sutton, V. Reid
Publicado 2016

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

por Rivière, Jean-Baptiste, van Bon, Bregje W M, Hoischen, Alexander, Kholmanskikh, Stanislav S, O’Roak, Brian J, Gilissen, Christian, Gijsen, Sabine, Sullivan, Christopher T, Christian, Susan L, Abdul-Rahman, Omar A, Atkin, Joan F, Chassaing, Nicolas, Drouin-Garraud, Valerie, Fry, Andrew E, Fryns, Jean-Pierre, Gripp, Karen W, Kempers, Marlies, Kleefstra, Tjitske, Mancini, Grazia M S, Nowaczyk, Małgorzata J M, van Ravenswaaij-Arts, Conny M A, Roscioli, Tony, Marble, Michael, Rosenfeld, Jill A, Siu, Victoria M, de Vries, Bert B A, Shendure, Jay, Verloes, Alain, Veltman, Joris A, Brunner, Han G, Ross, M Elizabeth, Pilz, Daniela T, Dobyns, William B
Publicado 2012

Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder

por Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdul-Rahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E.
Publicado 2015

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

por Whitman, Mary C., Barry, Brenda J., Robson, Caroline D., Facio, Flavia M., Van Ryzin, Carol, Chan, Wai-Man, Lehky, Tanya J., Thurm, Audrey, Zalewski, Christopher, King, Kelly A., Brewer, Carmen, Almpani, Konstantinia, Lee, Janice S., Delaney, Angela, FitzGibbon, Edmond J., Lee, Paul R., Toro, Camilo, Paul, Scott M., Abdul-Rahman, Omar A., Webb, Bryn D., Jabs, Ethylin Wang, Moller, Hans Ulrik, Larsen, Dorte Ancher, Antony, Jayne H., Troedson, Christopher, Ma, Alan, Ragnhild, Glad, Wirgenes, Katrine V., Tham, Emma, Kvarnung, Malin, Maarup, Timothy James, MacKinnon, Sarah, Hunter, David G., Collins, Francis S., Manoli, Irini, Engle, Elizabeth C.
Publicado 2021

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial

por Krantz, Ian D., Medne, Livija, Weatherly, Jamila M., Wild, K. Taylor, Biswas, Sawona, Devkota, Batsal, Hartman, Tiffiney, Brunelli, Luca, Fishler, Kristen P., Abdul-Rahman, Omar, Euteneuer, Joshua C., Hoover, Denise, Dimmock, David, Cleary, John, Farnaes, Lauge, Knight, Jason, Schwarz, Adam J., Vargas-Shiraishi, Ofelia M., Wigby, Kristin, Zadeh, Neda, Shinawi, Marwan, Wambach, Jennifer A., Baldridge, Dustin, Cole, F. Sessions, Wegner, Daniel J., Urraca, Nora, Holtrop, Shannon, Mostafavi, Roya, Mroczkowski, Henry J., Pivnick, Eniko K., Ward, Jewell C., Talati, Ajay, Brown, Chester W., Belmont, John W., Ortega, Julia L., Robinson, Keisha D., Brocklehurst, W. Tyler, Perry, Denise L., Ajay, Subramanian S., Hagelstrom, R. Tanner, Bennett, Maren, Rajan, Vani, Taft, Ryan J.
Publicado 2021