| Year |
Title |
Altmetric |
| 2022
|
Functional characterization and potential therapeutic avenues for variants in the NTRK2 gene causing developmental and epileptic encephalopathies.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.
189:37-47.
2022
|
|
| 2022
|
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.
Science Advances.
8.
2022
|
|
| 2021
|
Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network.
Orphanet Journal of Rare Diseases.
16.
2021
|
|
| 2021
|
One is the loneliest number: genotypic matchmaking using the electronic health record.
Genetics in Medicine.
23:1830-1832.
2021
|
|
| 2021
|
An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene.
Stem Cell Research.
54.
2021
|
|
| 2021
|
Metformin Use Is Associated With Reduced Mortality in a Diverse Population With COVID-19 and Diabetes.
Frontiers in Endocrinology.
11.
2021
|
|
| 2020
|
Cardioinformatics: The nexus of bioinformatics and precision cardiology.
Briefings in Bioinformatics.
21:2031-2051.
2020
|
|
| 2020
|
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Biological Psychiatry.
87:100-112.
2020
|
|
| 2020
|
A graph-based algorithm for RNA-seq data normalization.
PLoS ONE.
15.
2020
|
|
| 2020
|
Structured reviews for data and knowledge-driven research
2020
|
|
| 2019
|
N-of-1 Precision Medicine and Research Oversight
2019
|
|
| 2019
|
An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene.
Stem Cell Research.
39.
2019
|
|
| 2019
|
Induced pluripotent stem cells for neural drug discovery.
Drug Discovery Today.
24:992-999.
2019
|
|
| 2019
|
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Genetics in Medicine.
21:161-172.
2019
|
|
| 2019
|
Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene.
Stem Cell Research.
34.
2019
|
|
| 2018
|
Erratum: IRF2BPL Is Associated with Neurological Phenotypes (The American Journal of Human Genetics (2018) 103(2) (245–260), (S0002929718302337) (10.1016/j.ajhg.2018.07.006)).
American Journal of Human Genetics.
103:456.
2018
|
|
| 2018
|
Characteristics of undiagnosed diseases network applicants: Implications for referring providers.
BMC Health Services Research.
18.
2018
|
|
| 2018
|
anexVis: Visual analytics framework for analysis of RNA expression.
Bioinformatics.
34:2510-2512.
2018
|
|
| 2018
|
A comprehensive approach to identifying repurposed drugs to treat SCN8A epilepsy.
Epilepsia.
59:802-813.
2018
|
|
| 2018
|
Looking beyond the exome: A phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Genetics in Medicine.
20:464-469.
2018
|
|
| 2018
|
Plain-language medical vocabulary for precision diagnosis /692/700/478 /631/208/1516 correspondence.
Nature Genetics.
50:474-476.
2018
|
|
| 2018
|
Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches.
Human Molecular Genetics.
27:1055-1066.
2018
|
|
| 2018
|
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
American Journal of Human Genetics.
102:494-504.
2018
|
|
| 2018
|
Abstract allocation as a unified approach to polyvariance in control-flow analyses.
Journal of Functional Programming.
2018
|
|
| 2018
|
Neural guided constraint logic programming for program synthesis.
Advances in Neural Information Processing Systems.
2018-December:1737-1746.
2018
|
|
| 2017
|
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.
American Journal of Human Genetics.
100:843-853.
2017
|
|
| 2017
|
Nebo: An efficient, parallel, and portable domain-specific language for numerically solving partial differential equations.
Journal of Systems and Software.
125:389-400.
2017
|
|
| 2017
|
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
American Journal of Human Genetics.
100:128-137.
2017
|
|
| 2017
|
Model organisms facilitate rare disease diagnosis and therapeutic research
2017
|
|
| 2017
|
Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-β-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease.
Bioorganic and Medicinal Chemistry Letters.
27:2962-2966.
2017
|
|
| 2017
|
What happens when N = 1 and you want plus 1?.
Prenatal Diagnosis.
37:70-72.
2017
|
|
| 2016
|
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
American Journal of Human Genetics.
99:991-999.
2016
|
|
| 2016
|
On the complexity and performance of parsing with derivatives.
Proceedings of the ACM SIGPLAN Conference on Programming Language Design and Implementation (PLDI).
13-17-June-2016:224-236.
2016
|
|
| 2016
|
Pushdown control-flow analysis for free.
Conference Record of the Annual ACM Symposium on Principles of Programming Languages.
20-22-January-2016:691-704.
2016
|
|
| 2015
|
Galois transformers and modular abstract interpreters reusable metatheory for program analysis.
Proceedings of the Conference on Object-Oriented Programming Systems, Languages, and Applications, OOPSLA.
25-30-Oct-2015:552-571.
2015
|
|
| 2015
|
Participant-Driven Matchmaking in the Genomic Era.
Human Mutation.
36:965-973.
2015
|
|
| 2015
|
AnaDroid: Malware analysis of Android with user-supplied predicates.
Electronic Notes in Theoretical Computer Science.
311:3-14.
2015
|
|
| 2014
|
Pruning, pushdown exception-flow analysis.
Proceedings - 2014 14th IEEE International Working Conference on Source Code Analysis and Manipulation, SCAM 2014.
265-274.
2014
|
|
| 2014
|
The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated.
Genetics in Medicine.
16:736-737.
2014
|
|
| 2014
|
Deletion: The curse of the red-black tree.
Journal of Functional Programming.
24:423-433.
2014
|
|
| 2014
|
Pushdown flow analysis with abstract garbage collection.
Journal of Functional Programming.
24:218-283.
2014
|
|
| 2013
|
Sound and precise malware analysis for Android via pushdown reachability and entry-point saturation.
Proceedings of the ACM Conference on Computer and Communications Security.
21-32.
2013
|
|
| 2013
|
Optimizing abstract abstract machines.
Proceedings of the ACM SIGPLAN International Conference on Functional Programming, ICFP.
443-454.
2013
|
|
| 2012
|
Introspective pushdown analysis of higher-order programs.
ACM Sigplan Notices.
47:177-188.
2012
|
|
| 2012
|
Systematic abstraction of abstract machines.
Journal of Functional Programming.
22:705-746.
2012
|
|
| 2011
|
A family of abstract interpretations for static analysis of concurrent higher-order programs.
Lecture Notes in Artificial Intelligence.
6887 LNCS:180-197.
2011
|
|
| 2011
|
Abstracting abstract machines: A systematic approach to higher-order program analysis
2011
|
|
| 2010
|
Abstracting abstract machines.
ACM Sigplan Notices.
45:51-62.
2010
|
|
| 2008
|
Exploiting reachability and cardinality in higher-order flow analysis.
Journal of Functional Programming.
18:821-864.
2008
|
|
| 2007
|
Analyzing the environment structure of higher-order languages using frame strings.
Theoretical Computer Science.
375:137-168.
2007
|
|
| 2006
|
Improving flow analyses via γCFA abstract garbage collection and counting.
ACM Sigplan Notices.
41:13-25.
2006
|
|
| 2006
|
Environment analysis via ΔCFA.
ACM Sigplan Notices.
41:127-140.
2006
|
|
