Search Results - "Nahas, Shareef"

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

“…Establishing a diagnosis in patients suspected of having a myelodysplastic syndrome (MDS) can be challenging and could be informed by the identification of…”
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Letter to the Editor: Biobanks and International Initiatives Are Playing a Critical Role in Redressing Historic Inadequacies in Biosample and Data Access from Underrepresented Minority Populations by Sheldon, Michael, Grimwood, Robin, Nahas, Shareef A

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Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization by Farnaes, Lauge, Hildreth, Amber, Sweeney, Nathaly M., Clark, Michelle M., Chowdhury, Shimul, Nahas, Shareef, Cakici, Julie A., Benson, Wendy, Kaplan, Robert H., Kronick, Richard, Bainbridge, Matthew N., Friedman, Jennifer, Gold, Jeffrey J., Ding, Yan, Veeraraghavan, Narayanan, Dimmock, David, Kingsmore, Stephen F.

“…Genetic disorders are a leading cause of morbidity and mortality in infants. Rapid whole-genome sequencing (rWGS) can diagnose genetic disorders in time to…”
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Identification of SARS-CoV-2 variants using viral sequencing for the Centers for Disease Control and Prevention genomic surveillance program by Goswami, Chirayu, Sheldon, Michael, Bixby, Christian, Keddache, Mehdi, Bogdanowicz, Alexander, Wang, Yihe, Schultz, Jonathan, McDevitt, Jessica, LaPorta, James, Kwon, Elaine, Buyske, Steven, Garbolino, Dana, Biloholowski, Glenys, Pastuszak, Alex, Storella, Mary, Bhalla, Amit, Charlier-Rodriguez, Florence, Hager, Russ, Grimwood, Robin, Nahas, Shareef A

“…The Centers for Disease Control and Prevention contracted with laboratories to sequence the SARS-CoV-2 genome from positive samples across the United States to…”
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Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU by 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

“…Genetic disorders are a leading contributor to mortality in the neonatal ICU and PICU in the United States. Although individually rare, there are over 6,200…”
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ATM-dependent MiR-335 targets CtIP and modulates the DNA damage response by Martin, Nathan T, Nakamura, Kotoka, Davies, Robert, Nahas, Shareef A, Brown, Christina, Tunuguntla, Rashmi, Gatti, Richard A, Hu, Hailiang

“…ATM plays a critical role in cellular responses to DNA double-strand breaks (DSBs). We describe a new ATM-mediated DSB-induced DNA damage response pathway…”
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Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome by Owen, Mallory J, Niemi, Anna-Kaisa, Dimmock, David P, Speziale, Mark, Nespeca, Mark, Chau, Kevin K, Van Der Kraan, Luca, Wright, Meredith S, Hansen, Christian, Veeraraghavan, Narayanan, Ding, Yan, Lenberg, Jerica, Chowdhury, Shimul, Hobbs, Charlotte A, Batalov, Sergey, Zhu, Zhanyang, Nahas, Shareef A, Gilmer, Sheldon, Knight, Gail, Lefebvre, Sebastien, Reynders, John, Defay, Thomas, Weir, Jacqueline, Thomson, Vicki S, Fraser, Louise, Lajoie, Bryan R, McPhail, Tim K, Mehtalia, Shyamal S, Kunard, Chris M, Hall, Kevin P, Kingsmore, Stephen F

“…Infantile encephalopathy is associated with approximately 1500 genetic diseases. Without prompt treatment, permanent neurologic injury or death may occur…”
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Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy by Friedman, Jennifer, Smith, Desiree E., Issa, Mahmoud Y., Stanley, Valentina, Wang, Rengang, Mendes, Marisa I., Wright, Meredith S., Wigby, Kristen, Hildreth, Amber, Crawford, John R., Koehler, Alanna E., Chowdhury, Shimul, Nahas, Shareef, Zhai, Liting, Xu, Zhiwen, Lo, Wing-Sze, James, Kiely N., Musaev, Damir, Accogli, Andrea, Guerrero, Kether, Tran, Luan T., Omar, Tarek E. I., Ben-Omran, Tawfeg, Dimmock, David, Kingsmore, Stephen F., Salomons, Gajja S., Zaki, Maha S., Bernard, Geneviève, Gleeson, Joseph G.

“…Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic…”
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Functional Precision Medicine Identifies New Therapeutic Candidates for Medulloblastoma by 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

“…Medulloblastoma is among the most common malignant brain tumors in children. Recent studies have identified at least four subgroups of the disease that differ…”
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Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis by Moreno Traspas, Ricardo, Teoh, Tze Shin, Wong, Pui-Mun, Maier, Michael, Chia, Crystal Y., Lay, Kenneth, Ali, Nur Ain, Larson, Austin, Al Mutairi, Fuad, Al-Sannaa, Nouriya Abbas, Faqeih, Eissa Ali, Alfadhel, Majid, Cheema, Huma Arshad, Dupont, Juliette, Bézieau, Stéphane, Isidor, Bertrand, Low, Dorrain Yanwen, 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

“…Cirrhosis is usually a late-onset and life-threatening disease characterized by fibrotic scarring and inflammation that disrupts liver architecture and…”
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Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease by Sweeney, Nathaly M., Nahas, Shareef A., Chowdhury, Shimul, Batalov, Sergey, Clark, Michelle, Caylor, Sara, Cakici, Julie, Nigro, John J., Ding, Yan, Veeraraghavan, Narayanan, Hobbs, Charlotte, Dimmock, David, Kingsmore, Stephen F.

“…Congenital heart disease (CHD) is the most common congenital anomaly and a major cause of infant morbidity and mortality. While morbidity and mortality are…”
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Nonaminoglycoside compounds induce readthrough of nonsense mutations by Du, Liutao, Damoiseaux, Robert, Nahas, Shareef, Gao, Kun, Hu, Hailiang, Pollard, Julianne M, Goldstine, Jimena, Jung, Michael E, Henning, Susanne M, Bertoni, Carmen, Gatti, Richard A

“…Large numbers of genetic disorders are caused by nonsense mutations for which compound-induced readthrough of premature termination codons (PTCs) might be…”
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Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD -related activated PI3K delta syndrome by Orellana, Halyn, Yan, Jia, Paul, Alex, Tokita, Mari, Ding, Yan, Ghosh, Rajarshi, Lewis, Katie L, Davis, Joie, Jamal, Leila, Jodarski, Colleen, Similuk, Morgan, Saucier, Nermina, Zhu, Zhanyang, Wang, Yihe, Wu, Sitao, Ruggieri, Jason, Su, Helen C, Uzel, Gulbu, Nahas, Shareef, Cooper, Megan, Walkiewicz, Magdalena A

“…Gonadal and gonosomal mosaicism describe phenomena in which a seemingly healthy individual carries a genetic variant in a subset of their gonadal tissue or…”
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Defective DNA double-strand break repair in pediatric systemic lupus erythematosus by Davies, Robert C., Pettijohn, Kelly, Fike, Francesca, Wang, Jiexi, Nahas, Shareef A., Tunuguntla, Rashmi, Hu, Hailiang, Gatti, Richard A., McCurdy, Deborah

“…Objective Previous reports of cells from patients with systemic lupus erythematosus (SLE) note that repair of single‐strand breaks is delayed, and these…”
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Assessing ‘radiosensitivity’ with kinetic profiles of γ-H2AX, 53BP1 and BRCA1 foci by Martin, Nathan T, Nahas, Shareef A, Tunuguntla, Rashmi, Fike, Francesca, Gatti, Richard A

“…Abstract Background and purpose DNA repair assays to identify radiosensitive patients have had limited clinical implementation due to long turn-around times or…”
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DNA double strand break repair defects, primary immunodeficiency disorders, and ‘radiosensitivity’ by Nahas, Shareef A, Gatti, Richard A

“…PURPOSE OF REVIEWIt is important to assess ‘radiosensitivity’ in patients suspected of immunodeficiency because underlying DNA double strand break (DSB) repair…”
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Correction of ATM Gene Function by Aminoglycoside-Induced Read-Through of Premature Termination Codons by Lai, Chih-Hung, Chun, Helen H., Nahas, Shareef A., Mitui, Midori, Gamo, Kristin M., Du, Liutao, Gatti, Richard A., Klein, George

“…Approximately 14% of genetic mutations in patients with ataxiatelangiectsia (A-T) are single-nucleotide changes that result in primary premature termination…”
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Rapid Flow Cytometry-Based Structural Maintenance of Chromosomes 1 (SMC1) Phosphorylation Assay for Identification of Ataxia-Telangiectasia Homozygotes and Heterozygotes by Nahas, Shareef A, Butch, Anthony W, Du, Liutao, Gatti, Richard A

“…No rapid reliable method exists for identifying ataxia-telangiectasia (A-T) homozygotes or heterozygotes. Heterozygotes are at an increased risk of cancer and…”
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Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome by Friedman, Jennifer, Bird, Lynne M., Haas, Richard, Robbins, Shira L., Nahas, Shareef A., Dimmock, David P., Yousefzadeh, Matthew J., Witt, Mariah A., Niedernhofer, Laura J., Chowdhury, Shimul

“…ABSTRACT Background Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth failure and multisystemic degeneration. Excision…”
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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 diaphragmatic hernia, congenital heart disease, and recurrent infections by Sweeney, Nathaly M, Nahas, Shareef A, Chowdhury, Shimul, Campo, Miguel Del, Jones, Marilyn C, Dimmock, David P, Kingsmore, Stephen F

“…Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity…”
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