Zachary Zappala
Zachary Zappala
Postdoctoral Fellow
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Cited by
Cited by
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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), 1-15, 2021
PATH-SCAN: a reporting tool for identifying clinically actionable variants
R Daneshjou, Z Zappala, K Kukurba, SM Boyle, KE Ormond, TE Klein, ...
Biocomputing 2014, 229-240, 2014
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
Non-coding loss-of-function variation in human genomes
Z Zappala, SB Montgomery
Human heredity 81 (2), 78-87, 2016
Using high-resolution variant frequencies empowers clinical genome interpretation and enables investigation of genetic architecture
N Whiffin, AM Roberts, E Minikel, Z Zappala, R Walsh, ...
The American Journal of Human Genetics 104 (1), 187-190, 2019
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