Jessica X Chong
University of Washington
H-index: 33
North America-United States
Top articles of Jessica X Chong
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects | Human Genetics and Genomics Advances | Jessica X Chong Matthew Carter Childers Colby T Marvin Anthony J Marcello Hernan Gonorazky | 2023/7/13 |
Beyond the exome: what's next in diagnostic testing for Mendelian conditions | arXiv preprint arXiv:2301.07363 | Monica H Wojcik Chloe M Reuter Shruti Marwaha Medhat Mahmoud Michael H Duyzend | 2023/1/18 |
De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-Related Neurodevelopmental Disorder (GARND) | Human Genetics and Genomics Advances | Elizabeth A Werren Alba Guxholli Natasha Jones Matias Wagner Iris Hannibal | 2023/7/13 |
Exome‐wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify … | American Journal of Medical Genetics Part A | Pagna Sok Aniko Sabo Lynn M Almli Mary M Jenkins Wendy N Nembhard | 2023/6 |
Centers for Mendelian Genomics: A decade of facilitating gene discovery | Samantha M Baxter Jennifer E Posey Nicole J Lake Nara Sobreira Jessica X Chong | 2022/4/1 | |
Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis | The American Journal of Human Genetics | Melis A Aksit Hua Ling Rhonda G Pace Karen S Raraigh Frankline Onchiri | 2022/10/6 |
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia | American Journal of Medical Genetics Part A | Jingjing Li Wei Yang Yuejun Jessie Wang Chen Ma Cynthia J Curry | 2022/8 |
Variant‐level matching for diagnosis and discovery: Challenges and opportunities | Eliete da S Rodrigues Sean Griffith Renan Martin Corina Antonescu Jennifer E Posey | 2022/6 | |
Exome-wide rare variant analysis in familial essential tremor | Parkinsonism & related disorders | Monica Diez-Fairen Gabrielle Houle Sara Ortega-Cubero Sara Bandres-Ciga Ignacio Alvarez | 2021/1/1 |
Centering Equity in Human Genetics and Genomics Advances | Human Genetics and Genomics Advances | Jennifer K Wagner Joon-Ho Yu Jessica X Chong Charmaine D Royal Michael J Bamshad | 2021/10/14 |
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta | Human Genetics and Genomics Advances | Thao T Tran Rachel B Keller Brecht Guillemyn Melanie Pepin Jane E Corteville | 2021/10/14 |
Targeted long-read sequencing identifies missing disease-causing variation | The American Journal of Human Genetics | Danny E Miller Arvis Sulovari Tianyun Wang Hailey Loucks Kendra Hoekzema | 2021/8/5 |
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans | Nature | Konrad J Karczewski Laurent C Francioli Grace Tiao Beryl B Cummings Jessica Alföldi | 2021/2/18 |
The mutational constraint spectrum quantified from variation in 141,456 humans | Nature | Konrad J Karczewski Laurent C Francioli Grace Tiao Beryl B Cummings Jessica Alföldi | 2020/5/28 |
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder | Genetics in Medicine | Ghayda M Mirzaa Jessica X Chong Amélie Piton Bernt Popp Kimberly Foss | 2020/3 |
Response to Hall et al. | The American Journal of Human Genetics | Jessica X Chong Jared C Talbot Emily M Teets Samantha Previs Brit L Martin | 2020/12/3 |
Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants | BioRxiv | Danny E Miller Arvis Sulovari Tianyun Wang Hailey Loucks Kendra Hoekzema | 2020/11/4 |
Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia | EBioMedicine | Maya Barad Fabiana Csukasi Michaela Bosakova Jorge H Martin Wenjuan Zhang | 2020/12/1 |
Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis | The American Journal of Human Genetics | Jessica X Chong Jared C Talbot Emily M Teets Samantha Previs Brit L Martin | 2020/8/6 |
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants | Genetics in Medicine | Li Xin Zhang Gabrielle Lemire Claudia Gonzaga-Jauregui Sirinart Molidperee Carolina Galaz-Montoya | 2020/5/19 |
