Rapid Flow Cytometry–Based Structural Maintenance of Chromosomes 1 (SMC1) Phosphorylation Assay for Identification of Ataxia-Telangiectasia Homozygotes and Heterozygotes

Por Nahas, Shareef A., Butch, Anthony W., Du, Liutao, Gatti, Richard A.
Publicado em 2009

Assessing ‘Radiosensitivity’ with kinetic profiles of γ-H2AX, 53BP1 and BRCA1 Foci

Por Martin, Nathan T., Nahas, Shareef A., Tunuguntla, Rashmi, Fike, Francesca, Gatti, Richard A.
Publicado em 2011

Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome

Por Farnaes, Lauge, Nahas, Shareef A., Chowdhury, Shimul, Nelson, James, Batalov, Serge, Dimmock, David M., Kingsmore, Stephen F.
Publicado no Cold Spring Harb Mol Case Stud (2017)

ATM–Dependent MiR-335 Targets CtIP and Modulates the DNA Damage Response

Por Martin, Nathan T., Nakamura, Kotoka, Davies, Robert, Nahas, Shareef A., Brown, Christina, Tunuguntla, Rashmi, Gatti, Richard A., Hu, Hailiang
Publicado em 2013

Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons

Por Lai, Chih-Hung, Chun, Helen H., Nahas, Shareef A., Mitui, Midori, Gamo, Kristin M., Du, Liutao, Gatti, Richard A.
Publicado em 2004

Comprehensive Profiling of Radiosensitive Human Cell Lines with DNA Damage Response Assays Identifies the Neutral Comet Assay as a Potential Surrogate for Clonogenic Survival

Por Nahas, Shareef A., Davies, Robert, Fike, Francesca, Nakamura, Kotoka, Du, Liutao, Kayali, Refik, Martin, Nathan T., Concannon, Patrick, Gatti, Richard A.
Publicado no Radiat Res (2011)

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragm...

Por Sweeney, Nathaly M., Nahas, Shareef A., Chowdhury, Shimul, Campo, Miguel Del, Jones, Marilyn C., Dimmock, David P., Kingsmore, Stephen F.
Publicado no Cold Spring Harb Mol Case Stud (2018)

MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance

Por Kwok, Brian, Hall, Jeff M., Witte, John S., Xu, Yin, Reddy, Prashanti, Lin, Keming, Flamholz, Rachel, Dabbas, Bashar, Yung, Aine, Al-Hafidh, Jenan, Balmert, Emily, Vaupel, Christine, El Hader, Carlos, McGinniss, Matthew J., Nahas, Shareef A., Kines, Julie, Bejar, Rafael
Publicado no Blood (2015)

Rapid whole genome sequencing has clinical utility in children in the pediatric intensive care unit

Por Sanford, Erica F., Clark, Michelle M., Farnaes, Lauge, Williams, Matthew R., Perry, James C., Ingulli, Elizabeth G., Sweeney, Nathaly M., Doshi, Ami, Gold, Jeffrey J., Briggs, Benjamin, Bainbridge, Matthew N., Feddock, Michele, Watkins, Kelly, Chowdhury, Shimul, Nahas, Shareef A., Dimmock, David P., Kingsmore, Stephen F., Coufal, Nicole G.
Publicado no Pediatr Crit Care Med (2019)

Functional precision medicine identifies new therapeutic candidates for medulloblastoma

Por Rusert, Jessica M., Juarez, Edwin F., Brabetz, Sebastian, Jensen, James, Garancher, Alexandra, Chau, Lianne Q., Tacheva-Grigorova, Silvia K., Wahab, Sameerah, Udaka, Yoko T., Finlay, Darren, Seker-Cin, Huriye, Reardon, Brendan, Gröbner, Susanne, Serrano, Jonathan, Ecker, Jonas, Qi, Lin, Kogiso, Mari, Du, Yuchen, Baxter, Patricia A., Henderson, Jacob J., Berens, Michael E., Vuori, Kristiina, Milde, Till, Cho, Yoon-Jae, Li, Xiao-Nan, Olson, James M., Reyes, Iris, Snuderl, Matija, Wong, Terence C., Dimmock, David P., Nahas, Shareef A., Malicki, Denise, Crawford, John R., Levy, Michael L., Van Allen, Eliezer M., Pfister, Stefan M., Tamayo, Pablo, Kool, Marcel, Mesirov, Jill P., Wechsler-Reya, Robert J.
Publicado no Cancer Res (2020)

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

Por Traspas, Ricardo Moreno, Teoh, Tze Shin, Wong, Pui-Mun, Maier, Michael, Chia, Crystal Y., Lay, Kenneth, Ali, Nur Ain, Larson, Austin, Mutairi, Fuad Al, Al-Sannaa, Nouriya Abbas, Faqeih, Eissa Ali, Alfadhel, Majid, Cheema, Huma Arshad, Dupont, Juliette, Bézieau, Stéphane, Isidor, Bertrand, Yanwen Low, Dorrain, Wang, Yulan, Tan, Grace, Lai, Poh San, Piloquet, Hugues, Joubert, Madeleine, Kayserili, Hulya, Kripps, Kimberly A., Nahas, Shareef A., Wartchow, Eric P., Warren, Mikako, Bhavani, Gandham SriLakshmi, Dasouki, Majed, Sandoval, Renata, Carvalho, Elisa, Ramos, Luiza, Porta, Gilda, Wu, Bin, Lashkari, Harsha Prasada, AlSaleem, Badr, BaAbbad, Raeda M., Abreu Ferrão, Anabela Natália, Karageorgou, Vasiliki, Ordonez-Herrera, Natalia, Khan, Suliman, Bauer, Peter, Cogne, Benjamin, Bertoli-Avella, Aida M., Vincent, Marie, Girisha, Katta Mohan, Reversade, Bruno
Publicado no Nat Genet (2022)