[go: up one dir, main page]

Follow
Zachary Zappala
Zachary Zappala
Postdoctoral Fellow
Verified email at mgh.harvard.edu
Title
Cited by
Cited by
Year
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
100622020
Genetic effects on gene expression across human tissues
GTEx Consortium Lead analysts: Aguet François 1 Brown Andrew A. 2 3 4 Castel ...
Nature 550 (7675), 204-213, 2017
40172017
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
biorxiv, 531210, 2019
12712019
Dynamic landscape and regulation of RNA editing in mammals
MH Tan, Q Li, R Shanmugam, R Piskol, J Kohler, AN Young, KI Liu, ...
Nature 550 (7675), 249-254, 2017
6802017
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
L Frésard, C Smail, NM Ferraro, NA Teran, X Li, KS Smith, D Bonner, ...
Nature medicine 25 (6), 911-919, 2019
3532019
The impact of rare variation on gene expression across tissues
X Li, Y Kim, EK Tsang, JR Davis, FN Damani, C Chiang, GT Hess, ...
Nature 550 (7675), 239-243, 2017
3162017
Long-read genome sequencing identifies causal structural variation in a Mendelian disease
JD Merker, AM Wenger, T Sneddon, M Grove, Z Zappala, L Fresard, ...
Genetics in Medicine 20 (1), 159-163, 2018
2942018
Co-expression networks reveal the tissue-specific regulation of transcription and splicing
A Saha, Y Kim, ADH Gewirtz, B Jo, C Gao, IC McDowell, BE Engelhardt, ...
Genome research 27 (11), 1843-1858, 2017
2072017
Impact of the X chromosome and sex on regulatory variation
KR Kukurba, P Parsana, B Balliu, KS Smith, Z Zappala, DA Knowles, ...
Genome research 26 (6), 768-777, 2016
1272016
GRSDB2 and GRS_UTRdb: databases of quadruplex forming G-rich sequences in pre-mRNAs and mRNAs
O Kikin, Z Zappala, L D’Antonio, PS Bagga
Nucleic acids research 36 (suppl_1), D141-D148, 2007
1132007
Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder
M Oláhová, WH Yoon, K Thompson, S Jangam, L Fernandez, ...
The American Journal of Human Genetics 102 (3), 494-504, 2018
1012018
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
JK Goodrich, M Singer-Berk, R Son, A Sveden, J Wood, E England, ...
Nature communications 12 (1), 3505, 2021
1002021
Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants
X Li, A Battle, KJ Karczewski, Z Zappala, DA Knowles, KS Smith, ...
The American Journal of Human Genetics 95 (3), 245-256, 2014
842014
Identifying cis-mediators for trans-eQTLs across many human tissues using genomic mediation analysis
F Yang, J Wang, BL Pierce, LS Chen, F Aguet, KG Ardlie, BB Cummings, ...
Genome research 27 (11), 1859-1871, 2017
802017
Population-and individual-specific regulatory variation in Sardinia
M Pala, Z Zappala, M Marongiu, X Li, JR Davis, R Cusano, F Crobu, ...
Nature genetics 49 (5), 700-707, 2017
572017
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
S Gudmundsson, KJ Karczewski, LC Francioli, G Tiao, BB Cummings, ...
Nature 597 (7874), E3-E4, 2021
542021
Whole‐transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy
KD Kernohan, L Frésard, Z Zappala, T Hartley, KS Smith, J Wagner, H Xu, ...
Human mutation 38 (6), 611-614, 2017
462017
Colocalization of Gene Expression and DNA Methylation with Genetic Risk Variants Supports Functional Roles of MUC5B and DSP in Idiopathic Pulmonary Fibrosis
R Borie, J Cardwell, IR Konigsberg, CM Moore, W Zhang, SK Sasse, ...
American journal of respiratory and critical care medicine 206 (10), 1259-1270, 2022
422022
Non-coding loss-of-function variation in human genomes
Z Zappala, SB Montgomery
Human heredity 81 (2), 78-87, 2017
282017
Specificity of CRISPR-Cas9 editing in exagamglogene autotemcel
A Yen, Z Zappala, RS Fine, TD Majarian, P Sripakdeevong, D Altshuler
New England Journal of Medicine 390 (18), 1723-1725, 2024
252024
The system can't perform the operation now. Try again later.
Articles 1–20