A Case Report of Immunotherapy-Resistant MSI-H Gastric Cancer with Significant Intrapatient Tumoral Heterogeneity Characterized by Histologic Dedifferentiation

por Kethireddy, Nikhila, Arvanitis, Leonidas, LoBello, Janine, Woo, Yanghee, Szelinger, Szabolcs, Chao, Joseph
Publicado 2022

Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities

por Narayanan, Mohan, Ramsey, Keri, Grebe, Theresa, Schrauwen, Isabelle, Szelinger, Szabolcs, Huentelman, Matthew, Craig, David, Narayanan, Vinodh
Publicado 2015

Ntrk1 mutation co-segregating with bipolar disorder and inherited kidney disease in a multiplex family causes defects in neuronal growth and depression-like behavior in mice

por Nakajima, Kazuo, Miranda, Alannah, Craig, David W., Shekhtman, Tatyana, Kmoch, Stanislav, Bleyer, Anthony, Szelinger, Szabolcs, Kato, Tadafumi, Kelsoe, John R.
Publicado 2020

Underreporting of SMARCB1 alteration by clinical sequencing: Integrative patho-genomic analysis captured SMARCB1/INI-1 deficiency in a vulvar yolk sac tumor

por Wei, Christina H., Wang, Edward, Sadimin, Evita, Rodriguez-Rodriguez, Lorna, Agulnik, Mark, Yoon, Janet, LoBello, Janine, Szelinger, Szabolcs, Anderson, Clarke
Publicado 2023

Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays

por Homer, Nils, Szelinger, Szabolcs, Redman, Margot, Duggan, David, Tembe, Waibhav, Muehling, Jill, Pearson, John V., Stephan, Dietrich A., Nelson, Stanley F., Craig, David W.
Publicado 2008

Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations

por Ramsey, Keri, Belnap, Newell, Bonfitto, Anna, Jepsen, Wayne, Naymik, Marcus, Sanchez‐Castillo, Meredith, Craig, David W., Szelinger, Szabolcs, Huentelman, Matthew J., Narayanan, Vinodh, Rangasamy, Sampath
Publicado 2022

Characterization of X Chromosome Inactivation Using Integrated Analysis of Whole-Exome and mRNA Sequencing

por Szelinger, Szabolcs, Malenica, Ivana, Corneveaux, Jason J., Siniard, Ashley L., Kurdoglu, Ahmet A., Ramsey, Keri M., Schrauwen, Isabelle, Trent, Jeffrey M., Narayanan, Vinodh, Huentelman, Matthew J., Craig, David W.
Publicado 2014

IDENTIFICATION OF GENETIC VARIANTS USING BARCODED MULTIPLEXED SEQUENCING

por Craig, David W., Pearson, John V., Szelinger, Szabolcs, Sekar, Aswin, Margot, Redma, Corneveaux, Jason J., Pawlowski, Traci L., Laub, Trisha, Nunn, Gary, Stephan, Dietrich A., Homer, Nils, Huentelman, Matthew J.
Publicado 2008

Plasma cytokine profiling in sibling pairs discordant for autism spectrum disorder

por Napolioni, Valerio, Ober-Reynolds, Benjamin, Szelinger, Szabolcs, Corneveaux, Jason J, Pawlowski, Traci, Ober-Reynolds, Sharman, Kirwan, Janet, Persico, Antonio M, Melmed, Raun D, Craig, David W, Smith, Christopher J, Huentelman, Matthew J
Publicado 2013

Analytic validation and clinical utilization of the comprehensive genomic profiling test, GEM ExTra(®)

por White, Tracey, Szelinger, Szabolcs, LoBello, Janine, King, Amy, Aldrich, Jessica, Garinger, Nathan, Halbert, Matthew, Richholt, Ryan F., Mastrian, Stephen D., Babb, Cody, Ozols, Audrey A., Goodman, Laurie J., Basu, Gargi D., Royce, Thomas
Publicado 2021

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

por Schrauwen, Isabelle, Szelinger, Szabolcs, Siniard, Ashley L., Kurdoglu, Ahmet, Corneveaux, Jason J., Malenica, Ivana, Richholt, Ryan, Van Camp, Guy, De Both, Matt, Swaminathan, Shanker, Turk, Mari, Ramsey, Keri, Craig, David W., Narayanan, Vinodh, Huentelman, Matthew J.
Publicado 2015

Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2

por Jepsen, Wayne M., Ramsey, Keri, Szelinger, Szabolcs, Llaci, Lorida, Balak, Chris, Belnap, Newell, Bilagody, Cherae, De Both, Matthew, Gupta, Raj, Naymik, Marcus, Pandey, Richa, Piras, Ignazio S., Sanchez‐Castillo, Meredith, Rangasamy, Sampathkumar, Narayanan, Vinodh, Huentelman, Matthew J.
Publicado 2019

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

por Moskowitz, Abby M., Belnap, Newell, Siniard, Ashley L., Szelinger, Szabolcs, Claasen, Ana M., Richholt, Ryan F., De Both, Matt, Corneveaux, Jason J., Balak, Chris, Piras, Ignazio S., Russell, Megan, Courtright, Amanda L., Rangasamy, Sampath, Ramsey, Keri, Craig, David W., Narayanan, Vinodh, Huentelman, Matt J., Schrauwen, Isabelle
Publicado 2016

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilit...

por Banuelos, Erika, Ramsey, Keri, Belnap, Newell, Krishnan, Malavika, Balak, Chris, Szelinger, Szabolcs, Siniard, Ashley L., Russell, Megan, Richholt, Ryan, De Both, Matt, Piras, Ignazio, Naymik, Marcus, Claasen, Ana M., Rangasamy, Sampathkumar, Huentelman, Matthew J., Craig, David W., Campeau, Philippe M., Narayanan, Vinodh, Schrauwen, Isabelle
Publicado 2017

A novel variant in TAF1 affects gene expression and is associated with X-linked TAF1 intellectual disability syndrome

por Hurst, Sarah E., Liktor-Busa, Erika, Moutal, Aubin, Parker, Sara, Rice, Sydney, Szelinger, Szabolcs, Senner, Grant, Hammer, Michael F., Johnstone, Laurel, Ramsey, Keri, Narayanan, Vinodh, Perez-Miller, Samantha, Khanna, May, Dahlin, Heather, Lewis, Karen, Craig, David, Wang, Edith H., Khanna, Rajesh, Nelson, Mark A.
Publicado 2018

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

Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders

por Frankel, Eric, Podder, Avijit, Sharifi, Megan, Pillai, Roshan, Belnap, Newell, Ramsey, Keri, Dodson, Julius, Venugopal, Pooja, Brzezinski, Molly, Llaci, Lorida, Gerald, Brittany, Mills, Gabrielle, Sanchez-Castillo, Meredith, Balak, Chris D., Szelinger, Szabolcs, Jepsen, Wayne M., Siniard, Ashley L., Richholt, Ryan, Naymik, Marcus, Schrauwen, Isabelle, Craig, David W., Piras, Ignazio S., Huentelman, Matthew J., Schork, Nicholas J., Narayanan, Vinodh, Rangasamy, Sampathkumar
Publicado 2023

Enrichment of Cis-Regulatory Gene Expression SNPs and Methylation Quantitative Trait Loci Among Bipolar Disorder Susceptibility Variants

por Gamazon, ER, Badner, JA, Cheng, L, Zhang, C, Zhang, D, Cox, NJ, Gershon, ES, Kelsoe, JR, Greenwood, TA, Nievergelt, CM, Chen, C, McKinney, R, Shilling, PD, Schork, NJ, Smith, EN, Bloss, CS, Nurnberger, JI, Edenberg, HJ, Foroud, T, Koller, DL, Scheftner, WA, Coryell, W, Rice, J, Lawson, WB, Nwulia, EA, Hipolito, M, Byerley, W, McMahon, FJ, Schulze, TG, Berrettini, WH, Potash, JB, Zandi, PP, Mahon, PB, McInnis, MG, Zöllner, S, Zhang, P, Craig, DW, Szelinger, S, Barrett, TB, Liu, C
Publicado 2012

Genome-Wide Association of Bipolar Disorder Suggests an Enrichment of Replicable Associations in Regions near Genes

por Smith, Erin N., Koller, Daniel L., Panganiban, Corrie, Szelinger, Szabolcs, Zhang, Peng, Badner, Judith A., Barrett, Thomas B., Berrettini, Wade H., Bloss, Cinnamon S., Byerley, William, Coryell, William, Edenberg, Howard J., Foroud, Tatiana, Gershon, Elliot S., Greenwood, Tiffany A., Guo, Yiran, Hipolito, Maria, Keating, Brendan J., Lawson, William B., Liu, Chunyu, Mahon, Pamela B., McInnis, Melvin G., McMahon, Francis J., McKinney, Rebecca, Murray, Sarah S., Nievergelt, Caroline M., Nurnberger, John I., Nwulia, Evaristus A., Potash, James B., Rice, John, Schulze, Thomas G., Scheftner, William A., Shilling, Paul D., Zandi, Peter P., Zöllner, Sebastian, Craig, David W., Schork, Nicholas J., Kelsoe, John R.
Publicado 2011

The Pharmacogenomics of Bipolar Disorder study (PGBD): identification of genes for lithium response in a prospective sample

por Oedegaard, Ketil J., Alda, Martin, Anand, Anit, Andreassen, Ole A., Balaraman, Yokesh, Berrettini, Wade H., Bhattacharjee, Abesh, Brennand, Kristen J., Burdick, Katherine E., Calabrese, Joseph R., Calkin, Cynthia V., Claasen, Ana, Coryell, William H., Craig, David, DeModena, Anna, Frye, Mark, Gage, Fred H., Gao, Keming, Garnham, Julie, Gershon, Elliot, Jakobsen, Petter, Leckband, Susan G., McCarthy, Michael J., McInnis, Melvin G., Maihofer, Adam X., Mertens, Jerome, Morken, Gunnar, Nievergelt, Caroline M., Nurnberger, John, Pham, Son, Schoeyen, Helle, Shekhtman, Tatyana, Shilling, Paul D., Szelinger, Szabolcs, Tarwater, Bruce, Yao, Jun, Zandi, Peter P., Kelsoe, John R.
Publicado 2016