J. Capra

P753: Integrative exome, optical genome mapping, and variant-effect modeling in consanguineous couples with recurrent pregnancy loss
20260 citationsauthor #6
Reconstructing the 3D genome organization of Neanderthals reveals that chromatin folding shaped phenotypic and sequence divergence
202517 citationsauthor #12
Author Correction: Genetic effects on the timing of parturition and links to fetal birth weight
20231 citationsauthor #61
Disease-specific prioritization of non-coding GWAS variants based on chromatin accessibility
20234 citationsauthor #3
Sequence-based machine learning reveals 3D genome differences between bonobos and chimpanzees
20234 citationsauthor #7
Human gene regulatory evolution is driven by the divergence of regulatory element function in both cis and trans
202315 citationsauthor #3
Integrating Computational Approaches to Predict the Effect of Genetic Variants on Protein Stability in Retinal Degenerative Disease.
20231 citationsauthor #7
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology
20239 citationsauthor #9
Associations with spontaneous and indicated preterm birth in a densely phenotyped EHR cohort
20232 citationsauthor #8
GSEL: a fast, flexible python package for detecting signatures of diverse evolutionary forces on genomic regions
20232 citationsauthor #5
Illuminating the Function of the Orphan Transporter, SLC22A10 in Humans and Other Primates
20231 citationsauthor #16
Comparing chromatin contact maps at scale: methods and insights
202313 citationsauthor #6
Cell-Specific Transposable Element Gene Expression Analysis Identifies Associations with Systemic Lupus Erythematosus Phenotypes
20230 citationsauthor #11
Machine learning reveals the diversity of human 3D chromatin contact patterns
20236 citationsauthor #7
Linking rare and common disease vocabularies by mapping between the human phenotype ontology and phecodes
202314 citationsauthor #3
Cis-regulatory Landscape Size, Constraint, and Tissue Specificity Associate with Gene Function and Expression
20238 citationsauthor #3
Resurrecting the alternative splicing landscape of archaic hominins using machine learning
202312 citationsauthor #3
Comparing chromatin contact maps at scale: methods and insights
20230 citationsauthor #6
Archaic Introgression Shaped Human Circadian Traits
202311 citationsauthor #8
Vascular alterations impede fragile tolerance to pregnancy in type 1 diabetes.
20220 citationsauthor #10
The IMD and JNK pathways drive the functional integration of the immune and circulatory systems of mosquitoes
20224 citationsauthor #5
Genetic effects on the timing of parturition and links to fetal birth weight
202267 citationsauthor #61
Diverse functions associate with non-coding polymorphisms shared between humans and chimpanzees
20222 citationsauthor #3
Microbiome-associated human genetic variants impact phenome-wide disease risk
202217 citationsauthor #5
Genome-wide association study of musical beat synchronization demonstrates high polygenicity
202251 citationsauthor #10
Diverse functions associate with non-coding polymorphisms shared between humans and chimpanzees
20220 citationsauthor #3
Mosaic patterns of selection in genomic regions associated with diverse human traits
20226 citationsauthor #3
Integration of Protein Structure and Population-Scale DNA Sequence Data for Disease Gene Discovery and Variant Interpretation.
20222 citationsauthor #3
Corrigendum: An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease–related patterns
20220 citationsauthor #2
Predicting Archaic Hominin Phenotypes from Genomic Data
202216 citationsauthor #3
Function and constraint in enhancers with multiple evolutionary origins
20221 citationsauthor #2
Clinical characteristics and electrophysiologic properties of SCN5A variants in fever-induced Brugada syndrome
20228 citationsauthor #8
Spatial Distribution of Rare Missense Variants Within Protein Structures is Associated with AD Risk
20220 citationsauthor #2
Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants
202210 citationsauthor #19
Nucleoporins facilitate ORC loading onto chromatin
202212 citationsauthor #4
The immune deficiency and c-Jun N-terminal kinase pathways drive the functional integration of the immune and circulatory systems of mosquitoes
202214 citationsauthor #5
The 3D mutational constraint on amino acid sites in the human proteome
202235 citationsauthor #3
Machine Learning Models to Predict 24 Hour Urinary Abnormalities for Kidney Stone Disease.
202220 citationsauthor #6
An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease–related patterns
20223 citationsauthor #2
An active learning framework improves tumor variant interpretation
20214 citationsauthor #6
Developing a multidisciplinary strategy to interpret the impact of missense mutations in XPA on NER activity and cisplatin sensitivity
20210 citationsauthor #3
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network.
202133 citationsauthor #7
Diverse functions associate with trans-species polymorphisms in humans
20210 citationsauthor #3
Modeling the Evolutionary Architectures of Transcribed Human Enhancer Sequences Reveals Distinct Origins, Functions, and Associations with Human Trait Variation
20219 citationsauthor #2
R-loop Mapping and Characterization During Drosophila Embryogenesis Reveals Developmental Plasticity in R-loop Signatures
20219 citationsauthor #3
Diverse Functions Associate With Non-Coding Trans-species Polymorphisms in Humans
20210 citationsauthor #3
Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants
20218 citationsauthor #8
Distinct Features of Probands With Early Repolarization and Brugada Syndromes Carrying SCN5A Pathogenic Variants.
202128 citationsauthor #5
Tracing the Evolution of Human Gene Regulation and Its Association with Shifts in Environment
202112 citationsauthor #4
Unravelling the genetic architecture of musical rhythm : a large-scale 3 genome-wide association study of beat synchronization 4 5
20219 citationsauthor #10
Machine Learning Prediction of Kidney Stone Composition Using Electronic Health Record-Derived Features
202139 citationsauthor #5
Clinical Characteristics and Electrophysiologic Properties of SCN5A Variants in Fever-Induced Brugada Syndrome
20213 citationsauthor #5
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome
202126 citationsauthor #11
A Multitask Deep-Learning Method for Predicting Membrane Associations and Secondary Structures of Proteins.
20218 citationsauthor #3
An Association Test of the Spatial Distribution of Rare Missense Variants within Protein Structures Improves Statistical Power of Sequencing Studies
20211 citationsauthor #2
The 3D spatial constraint on 6.1 million amino acid sites in the human proteome
20212 citationsauthor #3
Topologically associating domain boundaries that are stable across diverse cell types are evolutionarily constrained and enriched for heritability.
2021145 citationsauthor #2
MP54-19 MACHINE LEARNING MODELS TO PREDICT 24-HOUR URINE ABNORMALITIES FROM ELECTRONIC HEALTH RECORD-DERIVED FEATURES
20210 citationsauthor #5
The influence of evolutionary history on human health and disease
2021211 citationsauthor #6
Predicting susceptibility to SARS‐CoV‐2 infection based on structural differences in ACE2 across species
202041 citationsauthor #7
Dense phenotyping from electronic health records enables machine learning-based prediction of preterm birth
202035 citationsauthor #11
Neanderthal introgression reintroduced functional ancestral alleles lost in Eurasian populations
202033 citationsauthor #6
PSCAN: Spatial scan tests guided by protein structures improve complex disease gene discovery and signal variant detection
20208 citationsauthor #7
Modeling the evolutionary architectures of human enhancer sequences reveals distinct origins, functions, and associations with human-trait variation
20200 citationsauthor #2
Topologically associating domain (TAD) boundaries stable across diverse cell types are evolutionarily constrained and enriched for heritability
202013 citationsauthor #2
Structural characterization of rare missense variants within known neurodegenerative disease proteins
20200 citationsauthor #14
Integrating structural and evolutionary data to interpret variation and pathogenicity in adapter protein complex 4
202010 citationsauthor #6
Which animals are at risk? Predicting species susceptibility to Covid-19
202013 citationsauthor #7
Predicting changes in protein thermodynamic stability upon point mutation with deep 3D convolutional neural networks
2020117 citationsauthor #3
Accounting for diverse evolutionary forces reveals mosaic patterns of selection on human preterm birth loci
202010 citationsauthor #9
Evaluating Human Autosomal Loci for Sexually Antagonistic Viability Selection in Two Large Biobanks
202031 citationsauthor #5
A multi-task deep-learning system for predicting membrane associations and secondary structures of proteins
20201 citationsauthor #3
Quantifying the contribution of Neanderthal introgression to the heritability of complex traits
202055 citationsauthor #3
Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (ALPL)
20207 citationsauthor #5
Advancing human health in the decade ahead: pregnancy as a key window for discovery
202015 citationsauthor #14
Inferred divergent gene regulation in archaic hominins reveals potential phenotypic differences
201951 citationsauthor #6
Resolving the Preterm Birth Phenotype Using Electronic Health Records and Genomic Biobanks [20A]
20191 citationsauthor #4
Abstract P176: Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants. Novel Genetic Cause of Neurogenic Orthostatic Hypotension
20190 citationsauthor #7
Folding and Misfolding of Human Membrane Proteins in Health and Disease: From Single Molecules to Cellular Proteostasis
2019212 citationsauthor #4
Signatures of Recent Positive Selection in Enhancers Across 41 Human Tissues
201924 citationsauthor #2
Immune Regulation in Eutherian Pregnancy: Live Birth Coevolved with Novel Immune Genes and Gene Regulation.
20196 citationsauthor #2
IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells
201912 citationsauthor #15
Genome-wide association study of musical beat synchronization demonstrates high polygenicity
201931 citationsauthor #10
Accounting for diverse evolutionary forces reveals the mosaic nature of selection on genomic regions associated with human preterm birth
20192 citationsauthor #9
Learning and interpreting the gene regulatory grammar in a deep learning framework
201918 citationsauthor #2
Sequence Characteristics Distinguish Transcribed Enhancers from Promoters and Predict Their Breadth of Activity
201915 citationsauthor #3
Protein structure aids predicting functional perturbation of missense variants in SCN5A and KCNQ1
201919 citationsauthor #5
Polygenic Adaptation Underlies Evolution of Brain Structures and Behavioral Traits
20191 citationsauthor #8
Neanderthal introgression reintroduced functional ancestral alleles lost in Eurasian populations
201916 citationsauthor #6
Supplemental Material for Moon et al., 2019
20190 citationsauthor #2
Do available protein 3D structures reflect human genetic and functional diversity?
20190 citationsauthor #9
Do available protein 3D structures reflect human genetic and functional diversity?
20190 citationsauthor #10
Genome-wide enhancer annotations differ significantly in genomic distribution, evolution, and function
201945 citationsauthor #4
High-throughput reclassification of SCN5A variants
2019106 citationsauthor #12
Functional annotation of rare structural variation in the human brain
201950 citationsauthor #72
Genome-wide maps of distal gene regulatory regions active in the human placenta
20180 citationsauthor #3
integRATE: a desirability-based data integration framework for the prioritization of candidate genes across heterogeneous omics and its application to preterm birth
20185 citationsauthor #4
Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures.
201864 citationsauthor #5
Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia
201813 citationsauthor #9
Examination of Signatures of Recent Positive Selection on Genes Involved in Human Sialic Acid Biology
20189 citationsauthor #3

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