Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways
Freeze, Hudson H., Chong, Jessica X., Bamshad, Michael J., Ng, Bobby G.
Published in American journal of human genetics (06.02.2014)
Published in American journal of human genetics (06.02.2014)
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Journal Article
Mendelian Gene Discovery: Fast and Furious with No End in Sight
Bamshad, Michael J., Nickerson, Deborah A., Chong, Jessica X.
Published in American journal of human genetics (05.09.2019)
Published in American journal of human genetics (05.09.2019)
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Journal Article
Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
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.
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
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Journal Article
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28
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
Published in American journal of medical genetics. Part A (01.09.2014)
Published in American journal of medical genetics. Part A (01.09.2014)
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Journal Article
The lesser of two weevils: Insects in our food
Chong, Jessica
Published in Food New Zealand the authority on food technology, research and manufacturing in New Zealand (01.08.2018)
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Published in Food New Zealand the authority on food technology, research and manufacturing in New Zealand (01.08.2018)
Journal Article
Targeted long-read sequencing identifies missing disease-causing variation
Miller, Danny E., Sulovari, Arvis, Wang, Tianyun, Loucks, Hailey, Hoekzema, Kendra, Munson, Katherine M., Lewis, Alexandra P., Fuerte, Edith P. Almanza, Paschal, Catherine R., Walsh, Tom, Thies, Jenny, Bennett, James T., Glass, Ian, Dipple, Katrina M., Patterson, Karynne, Bonkowski, Emily S., Nelson, Zoe, Squire, Audrey, Sikes, Megan, Beckman, Erika, Bennett, Robin L., Earl, Dawn, Lee, Winston, Allikmets, Rando, Perlman, Seth J., Chow, Penny, Hing, Anne V., Wenger, Tara L., Adam, Margaret P., Sun, Angela, Lam, Christina, Chang, Irene, Zou, Xue, Austin, Stephanie L., Huggins, Erin, Safi, Alexias, Iyengar, Apoorva K., Reddy, Timothy E., Majoros, William H., Allen, Andrew S., Crawford, Gregory E., Kishnani, Priya S., King, Mary-Claire, Cherry, Tim, Chong, Jessica X., Bamshad, Michael J., Nickerson, Deborah A., Mefford, Heather C., Doherty, Dan, Eichler, Evan E.
Published in American journal of human genetics (05.08.2021)
Published in American journal of human genetics (05.08.2021)
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Journal Article
Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results
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.
Published in American journal of human genetics (07.08.2014)
Published in American journal of human genetics (07.08.2014)
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Journal Article
Insights into genetics, human biology and disease gleaned from family based genomic studies
Posey, Jennifer E, O'Donnell-Luria, Anne H, Chong, Jessica X, Harel, Tamar, Jhangiani, Shalini N, Coban Akdemir, Zeynep H, Buyske, Steven, Pehlivan, Davut, Carvalho, Claudia M B, Baxter, Samantha, Sobreira, Nara, Liu, Pengfei, Wu, Nan, Rosenfeld, Jill A, Kumar, Sushant, Avramopoulos, Dimitri, White, Janson J, Doheny, Kimberly F, Witmer, P Dane, Boehm, Corinne, Sutton, V Reid, Muzny, Donna M, Boerwinkle, Eric, Günel, Murat, Nickerson, Deborah A, Mane, Shrikant, MacArthur, Daniel G, Gibbs, Richard A, Hamosh, Ada, Lifton, Richard P, Matise, Tara C, Rehm, Heidi L, Gerstein, Mark, Bamshad, Michael J, Valle, David, Lupski, James R
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Estimating the human mutation rate using autozygosity in a founder population
CAMPBELL, Catarina D, CHONG, Jessica X, ABNEY, Mark, OBER, Carole, EICHLER, Evan E, MALIG, Maika, KO, Arthur, DUMONT, Beth L, LIDE HAN, VIVES, Laura, O'ROAK, Brian J, SUDMANT, Peter H, SHENDURE, Jay
Published in Nature genetics (01.11.2012)
Published in Nature genetics (01.11.2012)
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Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy
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
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
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Journal Article
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate
Cox, Liza L., Cox, Timothy C., Moreno Uribe, Lina M., Zhu, Ying, Richter, Chika T., Nidey, Nichole, Standley, Jennifer M., Deng, Mei, Blue, Elizabeth, Chong, Jessica X., Yang, Yueqin, Carstens, Russ P., Anand, Deepti, Lachke, Salil A., Smith, Joshua D., Dorschner, Michael O., Bedell, Bruce, Kirk, Edwin, Hing, Anne V., Venselaar, Hanka, Valencia-Ramirez, Luz C., Bamshad, Michael J., Glass, Ian A., Cooper, Jonathan A., Haan, Eric, Nickerson, Deborah A., van Bokhoven, Hans, Zhou, Huiqing, Krahn, Katy N., Buckley, Michael F., Murray, Jeffrey C., Lidral, Andrew C., Roscioli, Tony
Published in American journal of human genetics (07.06.2018)
Published in American journal of human genetics (07.06.2018)
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Journal Article
Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability
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.
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Journal Article
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179
Grasberger, Helmut, Dumitrescu, Alexandra M, Liao, Xiao-Hui, Swanson, Elliott G, Weiss, Roy E, Srichomkwun, Panudda, Pappa, Theodora, Chen, Junfeng, Yoshimura, Takashi, Hoffmann, Phillip, França, Monica Malheiros, Tagett, Rebecca, Onigata, Kazumichi, Costagliola, Sabine, Ranchalis, Jane, Vollger, Mitchell R, Stergachis, Andrew B, Chong, Jessica X, Bamshad, Michael J, Smits, Guillaume, Vassart, Gilbert, Refetoff, Samuel
Published in Nature genetics (01.05.2024)
Published in Nature genetics (01.05.2024)
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Journal Article
Variant‐level matching for diagnosis and discovery: Challenges and opportunities
Rodrigues, Eliete da S., Griffith, Sean, Martin, Renan, Antonescu, Corina, Posey, Jennifer E., Coban‐Akdemir, Zeynep, Jhangiani, Shalini N., Doheny, Kimberly F., Lupski, James R., Valle, David, Bamshad, Michael J., Hamosh, Ada, Sheffer, Assaf, Chong, Jessica X., Einhorn, Yaron, Cupak, Miro, Sobreira, Nara
Published in Human mutation (01.06.2022)
Published in Human mutation (01.06.2022)
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Journal Article
Beyond the exome: What’s next in diagnostic testing for Mendelian conditions
Wojcik, Monica H., Reuter, Chloe M., Marwaha, Shruti, Mahmoud, Medhat, Duyzend, Michael H., Barseghyan, Hayk, Yuan, Bo, Boone, Philip M., Groopman, Emily E., Délot, Emmanuèle C., Jain, Deepti, Sanchis-Juan, Alba, Starita, Lea M., Talkowski, Michael, Montgomery, Stephen B., Bamshad, Michael J., Chong, Jessica X., Wheeler, Matthew T., Berger, Seth I., O'Donnell-Luria, Anne, Sedlazeck, Fritz J., Miller, Danny E.
Published in American journal of human genetics (03.08.2023)
Published in American journal of human genetics (03.08.2023)
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Journal Article
Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis
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
Published in PLoS genetics (01.06.2015)
Published in PLoS genetics (01.06.2015)
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