logo
CanyamAI summaries for academic research
language
MobileMobile
  • Phone FeatureWeChat Mini Program
EnglishEnglish
noticeNotice
BlogBlog
delete
arrow
Back
J

Jessica X. Chong

National Human Genome Research Institute

41H-index
163Paper Count
1.8WCitation Count
Published Papers 61
Publication Date
logo
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions
errAmerican Journal of Human Genetics
IF8.1
err2026-08-25
err0
PREAI
errYong-Han Hank Cheng; Adriana E. Sedeño-Cortés; Jane E. Ranchalis; Katherine M. Munson; Mitchell R. Vollger; Elsa Balton; Casie A. Genetti; Jenny L. Wilson; Monica H. Wojcik; Alan H. Beggs; Michael J. Bamshad; Chia-Lin Wei; Katrina M. Dipple; Runjun D. Kumar; Mark D. Fleming; Ian A. Glass; Elizabeth E. Blue; Gail Jarvik; Jessica X. Chong; Daniela M. Witten
errShare
errSave
Similarities and differences in the late-onset GM2 gangliosidoses: Tay-Sachs and Sandhoff diseases
errJournal of Neurology
IF4.6
err2026-08-03
err0
errOAAI
errConnor J. Lewis; Leila Shirvan; Jean M. Johnston; Catherine Groden; John Yang; Andrea Ashton; Jessica Chong; Mark Moran; Hera Akmal; Selby I. Chipman; Cris Zampieri; Jordan Wickstrom; Jesse Matsubara; Tanya Lehky; Katharine E. Alter; Camilo Toro; Cynthia J. Tifft
errShare
errSave
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders
errThe American Journal of Human Genetics
IF0
err2025-12-23
err0
errOAAI
errLauren Rekerle; Daniel Danis; Filip Rehburg; Adam S.L. Graefe; Viktor Bily; Andrés Caballero-Oteyza; Pilar Cacheiro; Leonardo Chimirri; Jessica X. Chong; Evan Connelly; Bert B.A. de Vries; Alexander J.M. Dingemans; Michael H. Duyzend; Tomas Freiberger; Petra Gehle; Tudor Groza; Peter Hansen; Julius O.B. Jacobsen; Adam Klocperk; Markus S. Ladewig
errShare
errSave
A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease?
errHuman Genetics and Genomics Advances
IF3.6
err2025-12-01
err2
errOAAI
errGroza, Tudor; Marcello, Allison J.; Carlisle, Tristan; Lim, Weng Khong; Haendel, Melissa; Karnani, Neerja; Robinson, Peter N.; Graessner, Holm; Chong, Jessica X.; Baynam, Gareth; Jamuar, Saumya Shekhar
errShare
errSave
GREGoR: accelerating genomics for rare diseases
errNature
IF48.5
err2025-11-12
err0
PREAI
errMoez Dawood; Ben Heavner; Marsha M. Wheeler; Rachel A. Ungar; Jonathan LoTempio; Laurens Wiel; Seth Berger; Jonathan A. Bernstein; Jessica X. Chong; Emmanuèle C. Délot; Evan E. Eichler; James R. Lupski; Ali Shojaie; Michael E. Talkowski; Alex H. Wagner; Chia-Lin Wei; Christopher Wellington; Matthew T. Wheeler; Claudia M. B. Carvalho; Richard A. Gibbs; Casey A. Gifford; Susanne May; Danny E. Miller; Heidi L. Rehm; Kaitlin E. Samocha; Fritz J. Sedlazeck; Eric Vilain; Anne O’Donnell-Luria; Jennifer E. Posey; Lisa H. Chadwick; Michael J. Bamshad; Stephen B. Montgomery
errShare
errSave
Expanding implementation of pediatric whole genome sequencing: insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis.
errHuman Genetics and Genomics Advances
IF3.6
err2025-06-03
err0
errOAAI
errJoon-Ho Yu; Katherine E. MacDuffie; Olivia Sommerland; Tesla Theoryn; Priyanka Murali; Kailyn Anderson; Megan Sikes; Lukas Kruidenier; Heidi I.S. Gildersleeve; Abbey Scott; Kati J. Buckingham; Kirsty McWalter; Paul Kruszka; Alexandra C. Keefe; Jessica X. Chong; David L. Veenstra; Katrina M. Dipple; Tara Wenger; Dan Doherty; Michael J. Bamshad
errShare
errSave
The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans
errHuman Genetics and Genomics Advances
IF3.6
err2025-05-05
err0
errOAAI
errMinna Ampuja; Sabina Ericsson; Ilkka Paatero; Iftekhar Chowdhury; Jenna Villman; Martin Broberg; Amanda Ramste; Diego Balboa; Tiina Ojala; Jessica X. Chong; Michael J. Bamshad; James R. Priest; Markku Varjosalo; Riikka Kivelä; Emmi Helle
errShare
errSave
Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing
errNPJ GENOMIC MEDICINE
IF4.8
err2025-03-21
err0
errOAAI
errMurdock, David R.; Guo, Dong-chuan; Depaolo, John S.; Schwarze, Ulrike; Duan, Xue-yan; Cecchi, Alana C.; Marin, Isabella C.; Tang, Yingying; Chong, Jessica X.; Bamshad, Michael J.; Leppig, Kathleen A.; Byers, Peter H.; Damrauer, Scott M.
errShare
errSave
SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-02-01
err1
errOAAI
errWenger, Tara L.; Scott, Abbey; Kruidenier, Lukas; Sikes, Megan; Keefe, Alexandra; Buckingham, Kati J.; Marvin, Colby T.; Shively, Kathryn M.; Bacus, Tamara; Sommerland, Olivia M.; Anderson, Kailyn; Gildersleeve, Heidi; Davis, Chayna J.; Love-Nichols, Jamie; Macduffie, Katherine E.; Miller, Danny E.; Yu, Joon-Ho; Snook, Amy; Johnson, Britt; Veenstra, David L.; Parish-Morris, Julia; Mcwalter, Kirsty; Retterer, Kyle; Copenheaver, Deborah; Friedman, Bethany; Juusola, Jane; Ryan, Erin; Varga, Renee; Doherty, Daniel A.; Dipple, Katrina; Chong, Jessica X.; Kruszka, Paul; Bamshad, Michael J.
errShare
errSave
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-02-01
err0
PREAI
errVerbinnen, Iris; Houge, Sofia Douzgou; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Genevieve, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J.; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X.; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M.; Foss, Kimberly; Dobyns, William; White, Susan M.; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A.; van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J.; Ruiz, Anna; Quintero, Juan Pablo Trujillo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K.; Weisenberg, Judith L.; Haack, Tobias B.; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Heus, Karen G. C. B. Bindels de; Wit, Marie-Claire Y. de; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Geraldine; Spillmann, Rebecca C.; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M.; Houge, Gunnar Douzgos; Janssens, Veerle
errShare
errSave
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2025-01-01
err4
errOAAI
errDanis, Daniel; Bamshad, Michael J.; Bridges, Yasemin; Caballero-Oteyza, Andres; 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, Allison J.; Mattina, Teresa; Mungall, Christopher J.; Munoz-Torres, Monica C.; Reese, Justin T.; Rehburg, Filip; Reis, Barbara 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.
errShare
errSave
Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-10-01
err2
errOAAI
errMansoorshahi, Sara; Yetman, Anji T.; Bissell, Malenka M.; Kim, Yuli Y.; Michelena, Hector I.; De Backer, Julie; Mosquera, Laura Muino; Hui, Dawn S.; Caffarelli, Anthony; Andreassi, Maria G.; Foffa, Ilenia; Guo, Dongchuan; Citro, Rodolfo; De Marco, Margot; Tretter, Justin T.; Morris, Shaine A.; Body, Simon C.; Chong, Jessica X.; Bamshad, Michael J.; Milewicz, Dianna M.; Prakash, Siddharth K.
errShare
errSave
Considerations for reporting variants in novel candidate genes identified fi ed during clinical genomic testing
errGENETICS IN MEDICINE
IF6.2
err2024-10-01
err0
errOAAI
errChong, Jessica X.; Berger, Seth I.; Baxter, Samantha; Smith, Erica; Xiao, Changrui; Calame, Daniel G.; Hawley, Megan H.; Rivera-Munoz, E. Andres; DiTroia, Stephanie; Bamshad, Michael J.; Rehm, Heidi L.
errShare
errSave
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179
errNATURE GENETICS
IF31.8
err2024-05-07
err3
PREAI
errGrasberger, Helmut; Dumitrescu, Alexandra M.; Liao, Xiao-Hui; Swanson, Elliott G.; Weiss, Roy E.; Srichomkwun, Panudda; Pappa, Theodora; Chen, Junfeng; Yoshimura, Takashi; Hoffmann, Phillip; Franca, 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
errShare
errSave
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1
errAMERICAN JOURNAL OF OPHTHALMOLOGY
IF4.2
err2024-02-01
err2
errOAAI
errPatterson, Karynne; Chong, Jessica x.; Chung, Doug d.; Lisch, Walter; Karp, Carol l.; Dreisler, Erling; Lockington, David; Rohrbach, Jens m.; Garczarczyk-asim, Dorota; Mueller, Thomas; Tuft, Stephen j.; Skalicka, Pavlina; Wilnai, Yael; Samra, Nadra naser; Ibrahim, Ali; Mandel, Hanna; Davidson, Alice e.; Liskova, Petra; Aldave, Anthony j.; Bamshad, Michael j.; Janecke, Andreas r.
errShare
errSave
Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2023-10-01
err0
errOAAI
errBlue, Elizabeth E.; White, Janson J.; Dush, Michael K.; Gordon, William W.; Wyatt, Brent H.; White, Peter; Marvin, Colby T.; Helle, Emmi; Ojala, Tiina; Priest, James R.; Jenkins, Mary M.; Almli, Lynn M.; Reefhuis, Jennita; Pangilinan, Faith; Brody, Lawrence C.; McBride, Kim L.; Garg, Vidu; Shaw, Gary M.; Romitti, Paul A.; Nembhard, Wendy N.; Browne, Marilyn L.; Werler, Martha M.; Kay, Denise M.; Mital, Seema; Chong, Jessica X.; Nascone-Yoder, Nanette M.; Bamshad, Michael J.
errShare
errSave
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2023-07-01
err5
errOAAI
errChong, Jessica X.; Childers, Matthew Carter; Marvin, Colby T.; Marcello, Allison J.; Gonorazky, Hernan; Hazrati, Lili-Naz; Dowling, James J.; Al Amrani, Fatema; Alanay, Yasemin; Nieto, Yolanda; Gabriel, Miguel A. Marin; Aylsworth, Arthur S.; Buckingham, Kati J.; Shively, Kathryn M.; Sommers, Olivia; Anderson, Kailyn; Regnier, Michael; Bamshad, Michael J.
errShare
errSave
De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2023-07-01
err1
errOAAI
errWerren, Elizabeth A.; Guxholli, Alba; Jones, Natasha; Wagner, Matias; Hannibal, Iris; Granadillo, Jorge L.; Tyndall, Amanda, V; Moccia, Amanda; Kuehl, Ryan; Levandoski, Kristin M.; Day-Salvatore, Debra L.; Wheeler, Marsha; Chong, Jessica X.; Bamshad, Michael J.; Innes, A. Micheil; Pierson, Tyler Mark; Mackay, Joel P.; Bielas, Stephanie L.; Martin, Donna M.
errShare
errSave
Centers for Mendelian Genomics: A decade of facilitating gene discovery
errGENETICS IN MEDICINE
IF6.2
err2022-04-01
err39
errOAAI
errBaxter, Samantha M.; Posey, Jennifer E.; Lake, Nicole J.; Sobreira, Nara; Chong, Jessica X.; Buyske, Steven; Blue, Elizabeth E.; Chadwick, Lisa H.; Coban-Akdemir, Zeynep H.; Doheny, Kimberly F.; Davis, Colleen P.; Lek, Monkol; Wellington, Christopher; Jhangiani, Shalini N.; Gerstein, Mark; Gibbs, Richard A.; Lifton, Richard P.; MacArthur, Daniel G.; Matise, Tara C.; Lupski, James R.; Valle, David; Bamshad, Michael J.; Hamosh, Ada; Mane, Shrikant; Nickerson, Deborah A.; Rehm, Heidi L.; O'Donnell-Luria, Anne
errShare
errSave
Variant-level matching for diagnosis and discovery: Challenges and opportunities
errHUMAN MUTATION
IF3.7
err2022-03-21
err25
errOAAI
errRodrigues, 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
errShare
errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
E
Eric Boerwinkle
H-index: 215 · Papers: 2.0K
E
Evan E. Eichler
H-index: 191 · Papers: 864
M
Mark Gerstein
H-index: 191 · Papers: 1.2K
R
Richard A. Gibbs
H-index: 190 · Papers: 1.3K
J
Jay Shendure
H-index: 167 · Papers: 662
View more