Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Lee, Hane, Deignan, Joshua L, Dorrani, Naghmeh, Strom, Samuel P, Kantarci, Sibel, Quintero-Rivera, Fabiola, Das, Kingshuk, Toy, Traci, Harry, Bret, Yourshaw, Michael, Fox, Michelle, Fogel, Brent L, Martinez-Agosto, Julian A, Wong, Derek A, Chang, Vivian Y, Shieh, Perry B, Palmer, Christina G. S, Dipple, Katrina M, Grody, Wayne W, Vilain, Eric, Nelson, Stanley F
Published in JAMA : the journal of the American Medical Association (12.11.2014)
Published in JAMA : the journal of the American Medical Association (12.11.2014)
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Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia
Fogel, Brent L, Lee, Hane, Deignan, Joshua L, Strom, Samuel P, Kantarci, Sibel, Wang, Xizhe, Quintero-Rivera, Fabiola, Vilain, Eric, Grody, Wayne W, Perlman, Susan, Geschwind, Daniel H, Nelson, Stanley F
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Published in JAMA neurology (01.10.2014)
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Interactions Between Commensal Fungi and the C-Type Lectin Receptor Dectin-1 Influence Colitis
Iliev, Iliyan D., Funari, Vincent A., Taylor, Kent D., Nguyen, Quoclinh, Reyes, Christopher N., Strom, Samuel P., Brown, Jordan, Becker, Courtney A., Fleshner, Phillip R., Dubinsky, Marla, Rotter, Jerome I., Wang, Hanlin L., McGovern, Dermot P. B., Brown, Gordon D., Underhill, David M.
Published in Science (American Association for the Advancement of Science) (08.06.2012)
Published in Science (American Association for the Advancement of Science) (08.06.2012)
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De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay
Arboleda, Valerie A., Lee, Hane, Dorrani, Naghmeh, Zadeh, Neda, Willis, Mary, Macmurdo, Colleen Forsyth, Manning, Melanie A., Kwan, Andrea, Hudgins, Louanne, Barthelemy, Florian, Miceli, M. Carrie, Quintero-Rivera, Fabiola, Kantarci, Sibel, Strom, Samuel P., Deignan, Joshua L., Grody, Wayne W., Vilain, Eric, Nelson, Stanley F.
Published in American journal of human genetics (05.03.2015)
Published in American journal of human genetics (05.03.2015)
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Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory
Strom, Samuel P., Lee, Hane, Das, Kingshuk, Vilain, Eric, Nelson, Stanley F., Grody, Wayne W., Deignan, Joshua L.
Published in Genetics in medicine (01.07.2014)
Published in Genetics in medicine (01.07.2014)
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Analysis of the ABCA4 genomic locus in Stargardt disease
Zernant, Jana, Xie, Yajing Angela, Ayuso, Carmen, Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel-Angel, Simonelli, Francesca, Testa, Francesco, Gorin, Michael B, Strom, Samuel P, Bertelsen, Mette, Rosenberg, Thomas, Boone, Philip M, Yuan, Bo, Ayyagari, Radha, Nagy, Peter L, Tsang, Stephen H, Gouras, Peter, Collison, Frederick T, Lupski, James R, Fishman, Gerald A, Allikmets, Rando
Published in Human molecular genetics (20.12.2014)
Published in Human molecular genetics (20.12.2014)
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De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa
Strom, Samuel P, Clark, Michael J, Martinez, Ariadna, Garcia, Sarah, Abelazeem, Amira A, Matynia, Anna, Parikh, Sachin, Sullivan, Lori S, Bowne, Sara J, Daiger, Stephen P, Gorin, Michael B
Published in PloS one (10.03.2016)
Published in PloS one (10.03.2016)
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A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics
Strom, Samuel P., Hossain, Waheeda A., Grigorian, Melina, Li, Mickey, Fierro, Joseph, Scaringe, William, Yen, Hai-Yun, Teguh, Mirandy, Liu, Joanna, Gao, Harry, Butler, Merlin G.
Published in Frontiers in genetics (11.05.2021)
Published in Frontiers in genetics (11.05.2021)
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TOX3 is expressed in mammary ER(+) epithelial cells and regulates ER target genes in luminal breast cancer
Seksenyan, Akop, Kadavallore, Asha, Walts, Ann E, de la Torre, Brian, Berel, Dror, Strom, Samuel P, Aliahmad, Parinaz, Funari, Vincent A, Kaye, Jonathan
Published in BMC cancer (30.01.2015)
Published in BMC cancer (30.01.2015)
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De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
Strom, Samuel P, Lozano, Reymundo, Lee, Hane, Dorrani, Naghmeh, Mann, John, O'Lague, Patricia F, Mans, Nicole, Deignan, Joshua L, Vilain, Eric, Nelson, Stanley F, Grody, Wayne W, Quintero-Rivera, Fabiola
Published in BMC genetics (01.05.2014)
Published in BMC genetics (01.05.2014)
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Disease gene characterization through large-scale co-expression analysis
Day, Allen, Dong, Jun, Funari, Vincent A, Harry, Bret, Strom, Samuel P, Cohn, Dan H, Nelson, Stanley F
Published in PloS one (31.12.2009)
Published in PloS one (31.12.2009)
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Molecular diagnosis of putative Stargardt Disease probands by exome sequencing
Strom, Samuel P, Gao, Yong-Qing, Martinez, Ariadna, Ortube, Carolina, Chen, Zugen, Nelson, Stanley F, Nusinowitz, Steven, Farber, Deborah B, Gorin, Michael B
Published in BMC genetics (03.08.2012)
Published in BMC genetics (03.08.2012)
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Somatic non-cancerous overgrowth syndrome of obscure molecular etiology: what are the causes and options?
Garneau, Alexandre P., Haydock, Ludwig, Tremblay, Laurence E., Harvey-Michaud, Pierre-Luc, Hsiao, Yun-Hua Esther, Strom, Samuel P., Canaud, Guillaume, Isenring, Paul
Published in Journal of molecular medicine (Berlin, Germany) (01.07.2022)
Published in Journal of molecular medicine (Berlin, Germany) (01.07.2022)
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Clinical exome sequencing in neurogenetic and neuropsychiatric disorders
Fogel, Brent L., Lee, Hane, Strom, Samuel P., Deignan, Joshua L., Nelson, Stanley F.
Published in Annals of the New York Academy of Sciences (01.02.2016)
Published in Annals of the New York Academy of Sciences (01.02.2016)
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Parkinson's disease variant detection and disclosure: PD GENEration, a North American study
Cook, Lola, Verbrugge, Jennifer, Schwantes-An, Tae-Hwi, Schulze, Jeanine, Foroud, Tatiana, Hall, Anne, Marder, Karen S, Mata, Ignacio F, Mencacci, Niccolò E, Nance, Martha A, Schwarzschild, Michael A, Simuni, Tanya, Bressman, Susan, Wills, Anne-Marie, Fernandez, Hubert H, Litvan, Irene, Lyons, Kelly E, Shill, Holly A, Singer, Carlos, Tropea, Thomas F, Arroyave, Nora Vanegas, Carbonell, Janfreisy, Vicioso, Rossy Cruz, Katus, Linn, Quinn, Joseph F, Hodges, Priscila D, Meng, Yan, Strom, Samuel P, Blauwendraat, Cornelis, Lohmann, Katja, Casaceli, Cynthia, Rao, Shilpa C, Galvelis, Kamalini Ghosh, Naito, Anna, Beck, James C, Alcalay, Roy N
Published in Brain (London, England : 1878) (30.07.2024)
Published in Brain (London, England : 1878) (30.07.2024)
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