Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

Por Freeze, Hudson H., Chong, Jessica X., Bamshad, Michael J., Ng, Bobby G.
Publicado em 2014

Schneiderian-Type Papilloma of the Middle Ear: A Review of the Literature

Por Schaefer, Nathan, Chong, Jessica, Griffin, Aaron, Little, Andrew, Gochee, Peter, Dixon, Natalie
Publicado no Int Surg (2015)

A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population

Por Chong, Jessica X., Ouwenga, Rebecca, Anderson, Rebecca L., Waggoner, Darrel J., Ober, Carole
Publicado em 2012

Accurate imputation of rare and common variants in a founder population from a small number of sequenced individuals

Por Uricchio, Lawrence H., Chong, Jessica X., Ross, Kevin D., Ober, Carole, Nicolae, Dan L.
Publicado em 2012

DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype

Por Srichomkwun, Panudda, Takamatsu, Junta, Nickerson, Deborah A., Bamshad, Michael J., Chong, Jessica X., Refetoff, Samuel
Publicado no Thyroid (2017)

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites

Por Chong, Jessica X, Oktay, A Afşin, Dai, Zunyan, Swoboda, Kathryn J, Prior, Thomas W, Ober, Carole
Publicado em 2011

Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications

Por Jamal, Seema M., Yu, Joon-Ho, Chong, Jessica X., Dent, Karin M., Conta, Jessie H., Tabor, Holly K., Bamshad, Michael J.
Publicado em 2013

Survival Beyond the Perinatal Period Expands the Phenotypes Caused by Mutations in GLE1

Por Said, Edith, Chong, Jessica X., Hempel, Maja, Denecke, Jonas, Soler, Paul, Strom, Tim, Nickerson, Deborah A., Kubisch, Christian, Bamshad, Michael, Lessel, Davor
Publicado no Am J Med Genet A (2017)

Diamond-Blackfan Anemia with Mandibulofacial Dystostosis is Heterogeneous, Including the Novel DBA Genes TSR2 and RPS28

Por Gripp, Karen W., Curry, Cynthia, Olney, Ann Haskins, Sandoval, Claudio, Fisher, Jamie, Chong, Jessica Xiao-Ling, Pilchman, Lisa, Sahraoui, Rebecca, Stabley, Deborah L., Sol-Church, Katia
Publicado em 2014

Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis

Por Blue, Elizabeth, Louie, Tin L., Chong, Jessica X., Hebbring, Scott J., Barnes, Kathleen C., Rafaels, Nicholas M., Knowles, Michael R., Gibson, Ronald L., Bamshad, Michael J.
Publicado no Ann Am Thorac Soc (2018)

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

Por Moccia, Amanda, Srivastava, Anshika, Skidmore, Jennifer M., Bernat, John A., Wheeler, Marsha, X.Chong, Jessica, Nickerson, Deborah, Bamshad, Michael, Hefner, Margaret A., Martin, Donna M., Bielas, Stephanie L.
Publicado no Genet Med (2018)

Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission

Por Maselli, Ricardo A., Arredondo, Juan, Vázquez, Jessica, Chong, Jessica X., Bamshad, Michael J., Nickerson, Deborah A., Lara, Marian, Ng, Fiona, Lo, Victoria L., Pytel, Peter, McDonald, Craig M.
Publicado no Am J Med Genet A (2017)

A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5

Por Maselli, Ricardo A., Arredondo, Juan, Vázquez, Jessica, Chong, Jessica X., Bamshad, Michael J., Nickerson, Deborah A., Lara, Marian, Ng, Fiona, Lee Lo, Victoria, Pytel, Peter, McDonald, Craig M.
Publicado no Ann N Y Acad Sci (2018)

A Shared Founder Mutation Underlies Restrictive Dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite Patients in North America

Por Loucks, Catrina, Parboosingh, Jillian S., Chong, Jessica X., Ober, Carole, Siu, Victoria M., Hegele, Robert A., Rupar, C. Anthony, McLeod, D. Ross, Pinto, Alfredo, Chudley, Albert E., Innes, A. Micheil
Publicado no Am J Med Genet A (2012)

Disclosure of Genetic Research Results to Members of a Founder Population

Por Anderson, Rebecca L., Murray, Kathleen, Chong, Jessica X., Ouwenga, Rebecca, Antillon, Marina, Chen, Peixian, de Leon, Lorena Diaz, Swoboda, Kathryn J., Lester, Lucille A., Das, Soma, Ober, Carole, Waggoner, Darrel J.
Publicado no J Genet Couns (2014)

Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results

Por Tabor, Holly K., Auer, Paul L., Jamal, Seema M., Chong, Jessica X., Yu, Joon-Ho, Gordon, Adam S., Graubert, Timothy A., O’Donnell, Christopher J., Rich, Stephen S., Nickerson, Deborah A., Bamshad, Michael J.
Publicado em 2014

Estimating human mutation rate using autozygosity in a founder population

Por Campbell, Catarina D., Chong, Jessica X., Malig, Maika, Ko, Arthur, Dumont, Beth L., Han, Lide, Vives, Laura, O’Roak, Brian J., Sudmant, Peter H., Shendure, Jay, Abney, Mark, Ober, Carole, Eichler, Evan E.
Publicado em 2012

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

Por Chong, Jessica X., Yu, Joon-Ho, Lorentzen, Peter, Park, Karen M., Jamal, Seema M., Tabor, Holly K., Rauch, Anita, Saenz, Margarita Sifuentes, Boltshauser, Eugen, Patterson, Karynne E., Nickerson, Deborah A., Bamshad, Michael J.
Publicado no Genet Med (2015)

Matchmaker Exchange

Por Sobreira, Nara L M, Arachchi, Harindra, Buske, Orion, Chong, Jessica X., Hutton, Ben, Foreman, Julia, Schiettecatte, François, Groza, Tudor, Jacobsen, Julius O.B., Haendel, Melissa, Boycott, Kym M, Hamosh, Ada, Rehm, Heidi L.
Publicado no Curr Protoc Hum Genet (2017)

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

Por Çalışkan, Minal, Chong, Jessica X., Uricchio, Lawrence, Anderson, Rebecca, Chen, Peixian, Sougnez, Carrie, Garimella, Kiran, Gabriel, Stacey B., DePristo, Mark A., Shakir, Khalid, Matern, Dietrich, Das, Soma, Waggoner, Darrel, Nicolae, Dan L., Ober, Carole
Publicado em 2011