Current practices and guidelines for clinical next-generation sequencing oncology testing

por Strom, Samuel P.
Publicado 2016

Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign

por Strom, Samuel P., Gorin, Michael B.
Publicado 2013

Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia

por Adegbola, Abidemi, Lutz, Richard, Nikkola, Elina, Strom, Samuel P., Picker, Jonathan, Wynshaw-Boris, Anthony
Publicado 2020

Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy

por Ortube, Maria Carolina, Strom, Samuel P, Nelson, Stanley F, Nusinowitz, Steven, Martinez, Ariadna, Gorin, Michael B
Publicado 2014

Disease Gene Characterization through Large-Scale Co-Expression Analysis

por Day, Allen, Dong, Jun, Funari, Vincent A., Harry, Bret, Strom, Samuel P., Cohn, Dan H., Nelson, Stanley F.
Publicado 2009

Assessing the necessity of confirmatory testing for exome sequencing results in a clinical molecular diagnostic laboratory

por Strom, Samuel P., Lee, Hane, Das, Kingshuk, Vilain, Eric, Nelson, Stanley F., Grody, Wayne W., Deignan, Joshua L.
Publicado 2014

Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes

por Mullegama, Sureni V., Jensik, Phillip, Li, Chen, Dorrani, Naghmeh, Kantarci, Sibel, Blumberg, Bruce, Grody, Wayne W., Strom, Samuel P.
Publicado 2017

“High Density SNP Association Study of the 17q21 Chromosomal Region Linked to Autism Identifies CACNA1G as a Novel Candidate Gene”

por Strom, Samuel P., Stone, Jennifer L., Bosch, John R. ten, Merriman, Barry, Cantor, Rita M., Geschwind, Daniel H., Nelson, Stanley F.
Publicado 2009

Molecular diagnosis of putative Stargardt disease probands by exome sequencing

por Strom, Samuel P, Gao, Yong-Qing, Martinez, Ariadna, Ortube, Carolina, Chen, Zugen, Nelson, Stanley F, Nusinowitz, Steven, Farber, Deborah B, Gorin, Michael B
Publicado 2012

TOX3 is expressed in mammary ER(+) epithelial cells and regulates ER target genes in luminal breast cancer

por Seksenyan, Akop, Kadavallore, Asha, Walts, Ann E, de la Torre, Brian, Berel, Dror, Strom, Samuel P, Aliahmad, Parinaz, Funari, Vincent A, Kaye, Jonathan
Publicado 2015

Somatic non-cancerous overgrowth syndrome of obscure molecular etiology: what are the causes and options?

por Garneau, Alexandre P., Haydock, Ludwig, Tremblay, Laurence E., Harvey-Michaud, Pierre-Luc, Hsiao, Yun-Hua Esther, Strom, Samuel P., Canaud, Guillaume, Isenring, Paul
Publicado 2022

Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients

por Matynia, Anna, Wang, Jun, Kim, Sangbae, Li, Yumei, Dimashkie, Anupama, Jiang, Zhichun, Hu, Jane, Strom, Samuel P., Radu, Roxana A., Chen, Rui, Gorin, Michael B.
Publicado 2022

A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics

por 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.
Publicado 2021

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa

por 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.
Publicado 2016

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

por 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
Publicado 2014

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

por Szelinger, Szabolcs, Krate, Jonida, Ramsey, Keri, Strom, Samuel P., Shieh, Perry B., Lee, Hane, Belnap, Newell, Balak, Chris, Siniard, Ashley L., Russell, Megan, Richholt, Ryan, Both, Matt De, Claasen, Ana M., Schrauwen, Isabelle, Nelson, Stanley F., Huentelman, Matthew J., Craig, David W., Yang, Samuel P., Moore, Steven A., Sivakumar, Kumaraswamy, Narayanan, Vinodh, Rangasamy, Sampathkumar
Publicado 2020