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 en Clin Case Rep (2015)

Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning

por Tayeh, Marwan K., Yen, Hsan-Jan, Beck, John S., Searby, Charles C., Westfall, Trudi A., Griesbach, Hilary, Sheffield, Val C., Slusarski, Diane C.
Publicado 2008

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 en Clin Diabetes Endocrinol (2018)

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene (BBS11)

por Chiang, Annie P., Beck, John S., Yen, Hsan-Jan, Tayeh, Marwan K., Scheetz, Todd E., Swiderski, Ruth E., Nishimura, Darryl Y., Braun, Terry A., Kim, Kwang-Youn A., Huang, Jian, Elbedour, Khalil, Carmi, Rivka, Slusarski, Diane C., Casavant, Thomas L., Stone, Edwin M., Sheffield, Val C.
Publicado 2006

Spectrum of Disease Associated with Partial Lipodystrophy (PL): Lessons from a Trial Cohort

por Ajluni, Nevin, Meral, Rasimcan, Neidert, Adam H., Brady, Graham F., Buras, Eric, McKenna, Barbara, DiPaola, Frank, Chenevert, Thomas L., Horowitz, Jeffrey F., Buggs-Saxton, Colleen, Rupani, Amit R., Thomas, Peedikayil E., Tayeh, Marwan K., Innis, Jeffrey W., Omary, M. Bishr, Conjeevaram, Hari, Oral, Elif A.
Publicado en Clin Endocrinol (Oxf) (2017)

A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation

por Hussain, Iram, Patni, Nivedita, Ueda, Masako, Sorkina, Ekaterina, Valerio, Cynthia M, Cochran, Elaine, Brown, Rebecca J, Peeden, Joseph, Tikhonovich, Yulia, Tiulpakov, Anatoly, Stender, Sarah R S, Klouda, Elisabeth, Tayeh, Marwan K, Innis, Jeffrey W, Meyer, Anders, Lal, Priti, Godoy-Matos, Amelio F, Teles, Milena G, Adams-Huet, Beverley, Rader, Daniel J, Hegele, Robert A, Oral, Elif A, Garg, Abhimanyu
Publicado en J Clin Endocrinol Metab (2017)

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 en PLoS One (2020)

Copy Number Variant Discrepancy Resolution Using the ClinGen Dosage Sensitivity Map Results in Updated Clinical Interpretations in ClinVar

por Riggs, Erin R., Nelson, Tristan, Merz, Andrew, Ackley, Todd, Bunke, Brian, Collins, Christin D., Collinson, Morag N., Fan, Yao-Shan, Goodenberger, McKinsey L., Golden, Denae M., Haglund-Hazy, Linda, Krgovic, Danijela, Lamb, Allen N., Lewis, Zoe, Li, Guang, Liu, Yajuan, Meck, Jeanne, Neufeld-Kaiser, Whitney, Runke, Cassandra K., Sanmann, Jennifer N., Stavropoulos, Dimitri J., Strong, Emma, Su, Meng, Tayeh, Marwan K., Vokac, Nadja Kokalj, Thorland, Erik C., Andersen, Erica, Martin, Christa L.
Publicado en Hum Mutat (2018)