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Jack M. Fu
Jack M. Fu
Instructor in Neurology at Harvard Medical School/Broad Institute/Massachusetts General Hospital
在 mgh.harvard.edu 的电子邮件经过验证 - 首页
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引用次数
引用次数
年份
A structural variation reference for medical and population genetics
RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, LC Francioli, ...
Nature 581 (7809), 444-451, 2020
823*2020
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins, S Dong, B Wamsley, ...
Nature genetics 54 (9), 1320-1331, 2022
260*2022
A cross-disorder dosage sensitivity map of the human genome
RL Collins, JT Glessner, E Porcu, M Lepamets, R Brandon, C Lauricella, ...
Cell 185 (16), 3041-3055. e25, 2022
1722022
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
X Zhao, RL Collins, WP Lee, AM Weber, Y Jun, Q Zhu, B Weisburd, ...
The American Journal of Human Genetics 108 (5), 919-928, 2021
942021
Activity-dependent degradation of the nascentome by the neuronal membrane proteasome
KV Ramachandran, JM Fu, TB Schaffer, CH Na, M Delannoy, SS Margolis
Molecular cell 71 (1), 169-177. e6, 2018
762018
The female protective effect against autism spectrum disorder
EM Wigdor, DJ Weiner, J Grove, JM Fu, WK Thompson, CE Carey, ...
Cell Genomics 2 (6), 2022
592022
Centers for Mendelian Genomics: A decade of facilitating gene discovery
SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ...
Genetics in Medicine 24 (4), 784-797, 2022
522022
Whole exome sequencing analyses reveal gene–microbiota interactions in the context of IBD
S Hu, AV Vila, R Gacesa, V Collij, C Stevens, JM Fu, I Wong, ...
Gut 70 (2), 285-296, 2021
482021
Ballgown: flexible, isoform-level differential expression analysis
J Fu, AC Frazee, L Collado-Torres, AE Jaffe, JT Leek
R package version 2 (0), 2018
40*2018
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data
M Babadi, JM Fu, SK Lee, AN Smirnov, LD Gauthier, M Walker, ...
Nature genetics 55 (9), 1589-1597, 2023
31*2023
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
B Mahjani, S De Rubeis, C Gustavsson Mahjani, M Mulhern, X Xu, L Klei, ...
Molecular autism 12, 1-12, 2021
292021
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders
AM Valencia, A Sankar, PJ van der Sluijs, FK Satterstrom, J Fu, ...
Nature Genetics 55 (8), 1400-1412, 2023
232023
Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p
DJ Weiner, E Ling, S Erdin, DJC Tai, R Yadav, J Grove, JM Fu, A Nadig, ...
Nature genetics 54 (11), 1630-1639, 2022
202022
Developmental variability in autism across 17 000 autistic individuals and 4000 siblings without an autism diagnosis: comparisons by cohort, intellectual disability, genetic …
SS Kuo, C van der Merwe, JM Fu, CE Carey, ME Talkowski, SL Bishop, ...
JAMA pediatrics 176 (9), 915-923, 2022
162022
Whole exome association of rare deletions in multiplex oral cleft families
J Fu, TH Beaty, AF Scott, J Hetmanski, MM Parker, JEB Wilson, ...
Genetic epidemiology 41 (1), 61-69, 2017
152017
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
C Lowther, E Valkanas, JL Giordano, HZ Wang, BB Currall, K O’Keefe, ...
The American Journal of Human Genetics 110 (9), 1454-1469, 2023
14*2023
Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries
E Collaborative, S Chen, BM Neale, SF Berkovic
medRxiv, 2023
92023
Detection of rare disease variants in extended pedigrees using RVS
T Sherman, J Fu, RB Scharpf, A Bureau, I Ruczinski
Bioinformatics 35 (14), 2509-2511, 2019
62019
RNA-seq transcript quantification from reduced-representation data in recount2
JM Fu, K Kammers, A Nellore, L Collado-Torres, JT Leek, MA Taub
BioRxiv, 247346, 2018
52018
Genome Sequencing for Diagnosing Rare Diseases
MH Wojcik, G Lemire, E Berger, MS Zaki, M Wissmann, W Win, SM White, ...
New England Journal of Medicine 390 (21), 1985-1997, 2024
4*2024
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