Bo Yuan

The common HAQ STING allele prevents clinical penetrance of COPA syndrome

Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach

The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

A Contrast‐Enhanced Tri‐Modal MRI Technique for High‐Performance Hypoxia Imaging of Breast Cancer

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

Black TiO2 nanoprobe-mediated mild phototherapy reduces intracellular lipid levels in atherosclerotic foam cells via cholesterol regulation pathways instead of apoptosis

The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency

Ten‐Gram‐Scale Facile Synthesis of Organogadolinium Complex Nanoparticles for Tumor Diagnosis

Reanalysis of Clinical Exome Sequencing Data

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

X-linked acrogigantism syndrome: clinical profile and therapeutic responses

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3

Collaborative Research: CS2: Formally Verified and Performance-Optimized Tensor Contraction Sequences in Quantum Many-Body Computations

Collaborative Research: SHF: Small: HexAI: Holistic Exploration for Design Automation of Efficient AI Accelerators

CAREER: SHF: Chimp: Algorithm-Hardware-Automation Co-Design Exploration of Real-Time Energy-Efficient Motion Planning

Collaborative Research: SHF: Medium: TensorNN: An Algorithm and Hardware Co-design Framework for On-device Deep Neural Network Learning using Low-rank Tensors

AitF: Collaborative Research: A Framework of Simultaneous Acceleration and Storage Reduction on Deep Neural Networks Using Structured Matrices

SHF: Small: Collaborative Research: LDPD-Net: A Framework for Accelerated Architectures for Low-Density Permuted-Diagonal Deep Neural Networks

SHF: Small: Collaborative Research: LDPD-Net: A Framework for Accelerated Architectures for Low-Density Permuted-Diagonal Deep Neural Networks

AitF: Collaborative Research: A Framework of Simultaneous Acceleration and Storage Reduction on Deep Neural Networks Using Structured Matrices