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Jessica X Chong
Jessica X Chong
Assistant Professor of Pediatrics, Division of Genetic Medicine, University of Washington
Adresse e-mail validée de uw.edu - Page d'accueil
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The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
Nature 581 (7809), 434-443, 2020
68172020
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
JX Chong, KJ Buckingham, SN Jhangiani, C Boehm, N Sobreira, ...
The American Journal of Human Genetics 97 (2), 199-215, 2015
7352015
International cooperation to enable the diagnosis of all rare genetic diseases
KM Boycott, A Rath, JX Chong, T Hartley, FS Alkuraya, G Baynam, ...
The American Journal of Human Genetics 100 (5), 695-705, 2017
3742017
Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways
HH Freeze, JX Chong, MJ Bamshad, BG Ng
The American Journal of Human Genetics 94 (2), 161-175, 2014
2752014
Estimating the human mutation rate using autozygosity in a founder population
CD Campbell, JX Chong, M Malig, A Ko, BL Dumont, L Han, L Vives, ...
Nature genetics 44 (11), 1277-1281, 2012
2442012
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5
MJ McMillin, AE Beck, JX Chong, KM Shively, KJ Buckingham, ...
The American Journal of Human Genetics 94 (5), 734-744, 2014
2042014
Mendelian Gene Discovery: Fast and Furious with No End in Sight
MJ Bamshad, DA Nickerson, JX Chong
The American Journal of Human Genetics 105 (3), 448-455, 2019
2032019
Insights into genetics, human biology and disease gleaned from family based genomic studies
JE Posey, AH O’Donnell-Luria, JX Chong, T Harel, SN Jhangiani, ...
Genetics in Medicine 21 (4), 798-812, 2019
1852019
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes
S Martinelli, OHF Krumbach, F Pantaleoni, S Coppola, E Amin, ...
The American Journal of Human Genetics 102 (2), 309-320, 2018
1562018
Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28
KW Gripp, C Curry, AH Olney, C Sandoval, J Fisher, JXL Chong, ...
American journal of medical genetics Part A 164 (9), 2240-2249, 2014
1432014
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13
M Çalışkan, JX Chong, L Uricchio, R Anderson, P Chen, C Sougnez, ...
Human molecular genetics 20 (7), 1285-1289, 2011
1362011
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay
JX Chong, MJ McMillin, KM Shively, AE Beck, CT Marvin, JR Armenteros, ...
The American Journal of Human Genetics 96 (3), 462-473, 2015
1352015
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability
N Bögershausen, N Shahrzad, JX Chong, JC von Kleist-Retzow, ...
The American Journal of Human Genetics 93 (1), 181-190, 2013
1242013
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation
BG Ng, KJ Buckingham, K Raymond, M Kircher, EH Turner, M He, ...
The American Journal of Human Genetics 92 (4), 632-636, 2013
1242013
Targeted long-read sequencing identifies missing disease-causing variation
DE Miller, A Sulovari, T Wang, H Loucks, K Hoekzema, KM Munson, ...
The American Journal of Human Genetics 108 (8), 1436-1449, 2021
1192021
Mutations in the epithelial cadherin-p120-catenin complex cause mendelian non-syndromic cleft lip with or without cleft palate
LL Cox, TC Cox, LMM Uribe, Y Zhu, CT Richter, N Nidey, JM Standley, ...
The American Journal of Human Genetics 102 (6), 1143-1157, 2018
982018
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features
JX Chong, JH Yu, P Lorentzen, KM Park, SM Jamal, HK Tabor, A Rauch, ...
Genetics in Medicine, 2015
972015
Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results
HK Tabor, PL Auer, SM Jamal, JX Chong, JH Yu, AS Gordon, TA Graubert, ...
The American Journal of Human Genetics 95 (2), 183-193, 2014
972014
Matchmaker exchange
NLM Sobreira, H Arachchi, OJ Buske, JX Chong, B Hutton, J Foreman, ...
Current protocols in human genetics 95 (1), 9.31. 1-9.31. 15, 2017
852017
MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder
G Heimer, JM Kerätär, LG Riley, S Balasubramaniam, E Eyal, ...
The American Journal of Human Genetics 99 (6), 1229-1244, 2016
852016
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