Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways von Freeze, Hudson H., Chong, Jessica X., Bamshad, Michael J., Ng, Bobby G.

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GPAD: a natural language processing-based application to extract the gene-disease association discovery information from OMIM von Rahit, K M Tahsin Hassan, Avramovic, Vladimir, Chong, Jessica X, Tarailo-Graovac, Maja

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Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation von Ng, Bobby G., Buckingham, Kati J., Raymond, Kimiyo, Kircher, Martin, Turner, Emily H., He, Miao, Smith, Joshua D., Eroshkin, Alexey, Szybowska, Marta, Losfeld, Marie E., Chong, Jessica X., Kozenko, Mariya, Li, Chumei, Patterson, Marc C., Gilbert, Rodney D., Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Freeze, Hudson H.

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

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A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population von CHONG, Jessica X, OUWENGA, Rebecca, ANDERSON, Rebecca L, WAGGONER, Darrel J, OBER, Carole

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Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy von Chong, Jessica X., Caputo, Viviana, Phelps, Ian G., Stella, Lorenzo, Worgan, Lisa, Dempsey, Jennifer C., Nguyen, Alina, Leuzzi, Vincenzo, Webster, Richard, Pizzuti, Antonio, Marvin, Colby T., Ishak, Gisele E., Ardern-Holmes, Simone, Richmond, Zara, Bamshad, Michael J., Ortiz-Gonzalez, Xilma R., Tartaglia, Marco, Chopra, Maya, Doherty, Dan

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Mendelian Gene Discovery: Fast and Furious with No End in Sight von Bamshad, Michael J., Nickerson, Deborah A., Chong, Jessica X.

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Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability von Bögershausen, Nina, Shahrzad, Nassim, Chong, Jessica X., von Kleist-Retzow, Jürgen-Christoph, Stanga, Daniela, Li, Yun, Bernier, Francois P., Loucks, Catrina M., Wirth, Radu, Puffenberger, Eric G., Hegele, Robert A., Schreml, Julia, Lapointe, Gabriel, Keupp, Katharina, Brett, Christopher L., Anderson, Rebecca, Hahn, Andreas, Innes, A. Micheil, Suchowersky, Oksana, Mets, Marilyn B., Nürnberg, Gudrun, McLeod, D. Ross, Thiele, Holger, Waggoner, Darrel, Altmüller, Janine, Boycott, Kym M., Schoser, Benedikt, Nürnberg, Peter, Ober, Carole, Heller, Raoul, Parboosingh, Jillian S., Wollnik, Bernd, Sacher, Michael, Lamont, Ryan E.

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DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype von Srichomkwun, Panudda, Takamatsu, Junta, Nickerson, Deborah A., Bamshad, Michael J., Chong, Jessica X., Refetoff, Samuel

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Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases von Muntadas, Javier A, Hyland, Martin R, Martínez, Maria Del Rosario Ortolá, Young, Jaime N, Chong, Jessica X, Bamshad, Michael J, Maselli, Ricardo A

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Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis von Emond, Mary J, Louie, Tin, Emerson, Julia, Chong, Jessica X, Mathias, Rasika A, Knowles, Michael R, Rieder, Mark J, Tabor, Holly K, Nickerson, Debbie A, Barnes, Kathleen C, Go, Lung, Gibson, Ronald L, Bamshad, Michael J

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Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13 von ALISKAN, Minal C, CHONG, Jessica X, MATERN, Dietrich, DAS, Soma, WAGGONER, Darrel, NICOLAE, Dan L, OBERL, Carole, URICCHIO, Lawrence, ANDERSON, Rebecca, PEIXIAN CHEN, SOUGNEZ, Carrie, GARIMELLA, Kiran, GABRIEL, Stacey B, DEPRISTO, Mark A, SHAKIR, Khalid

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Matchmaker Exchange von Sobreira, Nara L. M., Arachchi, Harindra, Buske, Orion J., Chong, Jessica X., Hutton, Ben, Foreman, Julia, Schiettecatte, François, Groza, Tudor, Jacobsen, Julius O.B., Haendel, Melissa A., Boycott, Kym M., Hamosh, Ada, Rehm, Heidi L.

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Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1 von Mackelprang, Romel D, Bamshad, Michael J, Chong, Jessica X, Hou, Xuanlin, Buckingham, Kati J, Shively, Kathryn, deBruyn, Guy, Mugo, Nelly R, Mullins, James I, McElrath, M Juliana, Baeten, Jared M, Celum, Connie, Emond, Mary J, Lingappa, Jairam R

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Homozygous Founder Mutation in Desmocollin-2 (DSC2) Causes Arrhythmogenic Cardiomyopathy in the Hutterite Population von Gerull, Brenda, Kirchner, Florian, Chong, Jessica X., Tagoe, Julia, Chandrasekharan, Kumaran, Strohm, Oliver, Waggoner, Darrel, Ober, Carole, Duff, Henry J.

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A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery von Danis, Daniel, Bamshad, Michael J., Bridges, Yasemin, Caballero-Oteyza, Andrés, Cacheiro, Pilar, Carmody, Leigh C., Chimirri, Leonardo, Chong, Jessica X., Coleman, Ben, Dalgleish, Raymond, Freeman, Peter J., Graefe, Adam S.L., Groza, Tudor, Hansen, Peter, Jacobsen, Julius O.B., Klocperk, Adam, Kusters, Maaike, Ladewig, Markus S., Marcello, Anthony J., Mattina, Teresa, Mungall, Christopher J., Munoz-Torres, Monica C., Reese, Justin T., Rehburg, Filip, Reis, Bárbara C.S., Schuetz, Catharina, Smedley, Damian, Strauss, Timmy, Sundaramurthi, Jagadish Chandrabose, Thun, Sylvia, Wissink, Kyran, Wagstaff, John F., Zocche, David, Haendel, Melissa A., Robinson, Peter N.

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Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1 von Mackelprang, Romel D, Bamshad, Michael J, Chong, Jessica X, Hou, Xuanlin, Buckingham, Kati J, Shively, Kathryn, deBruyn, Guy, Mugo, Nelly R, Mullins, James I, McElrath, M Juliana, Baeten, Jared M, Celum, Connie, Emond, Mary J, Lingappa, Jairam R

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Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects von Chong, Jessica X., Childers, Matthew Carter, Marvin, Colby T., Marcello, Anthony J., Gonorazky, Hernan, Hazrati, Lili-Naz, Dowling, James J., Al Amrani, Fatema, Alanay, Yasemin, Nieto, Yolanda, Gabriel, Miguel Á Marín, Aylsworth, Arthur S., Buckingham, Kati J., Shively, Kathryn M., Sommers, Olivia, Anderson, Kailyn, Regnier, Michael, Bamshad, Michael J.

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Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia von Barad, Maya, Csukasi, Fabiana, Bosakova, Michaela, Martin, Jorge H., Zhang, Wenjuan, Paige Taylor, S., Lachman, Ralph S., Zieba, Jennifer, Bamshad, Michael, Nickerson, Deborah, Chong, Jessica X., Cohn, Daniel H., Krejci, Pavel, Krakow, Deborah, Duran, Ivan

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Centering Equity in Human Genetics and Genomics Advances von Wagner, Jennifer K., Yu, Joon-Ho, Chong, Jessica X., Royal, Charmaine D., Bamshad, Michael J.

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