Citation Impact
Citing Papers
Carboxypeptidase E mediates palmitate-induced β-cell ER stress and apoptosis
2008
The evolutionary history of human spindle genes includes back-and-forth gene flow with Neandertals
2022 StandoutNobel
Autoimmune Th17 Cells Induced Synovial Stromal and Innate Lymphoid Cell Secretion of the Cytokine GM-CSF to Initiate and Augment Autoimmune Arthritis
2018 StandoutNobel
The Ensembl Variant Effect Predictor
2016 Standout
Wnt/β-catenin signalling: function, biological mechanisms, and therapeutic opportunities
2022 Standout
Clinical-grade computational pathology using weakly supervised deep learning on whole slide images
2019 Standout
Computational Pathology: A Path Ahead
2015
On-line resources for bacterial micro-evolution studies using MLVA or CRISPR typing
2007
Mechanisms, regulation and functions of the unfolded protein response
2020 Standout
Understanding Synapses: Past, Present, and Future
2008 StandoutNobel
Elements of cancer immunity and the cancer–immune set point
2017 StandoutNature
Parkinson's disease
2021 Standout
Predicting effects of noncoding variants with deep learning–based sequence model
2015
Cell biology of Ca2+-triggered exocytosis
2010 StandoutNobel
Synaptotagmin-1 functions as a Ca2+ sensor for spontaneous release
2009 StandoutNobel
IRE1α Kinase Activation Modes Control Alternate Endoribonuclease Outputs to Determine Divergent Cell Fates
2009
The evolving landscape of biomarkers for checkpoint inhibitor immunotherapy
2019 Standout
National, regional, and global trends in fasting plasma glucose and diabetes prevalence since 1980: systematic analysis of health examination surveys and epidemiological studies with 370 country-years and 2·7 million participants
2011 Standout
Cellular senescence in aging and age-related disease: from mechanisms to therapy
2015 Standout
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
2015 Standout
The unfolded protein response: controlling cell fate decisions under ER stress and beyond
2012 Standout
Zinc-finger proteins in health and disease
2017
Effective gene expression prediction from sequence by integrating long-range interactions
2021 StandoutNobel
The Human Transcription Factors
2018 Standout
Influence of the Hepatic Eukaryotic Initiation Factor 2α (eIF2α) Endoplasmic Reticulum (ER) Stress Response Pathway on Insulin-mediated ER Stress and Hepatic and Peripheral Glucose Metabolism
2011
Predicting the sequence specificities of DNA- and RNA-binding proteins by deep learning
2015 Standout
Candidate Phyla Radiation Roizmanbacteria From Hot Springs Have Novel and Unexpectedly Abundant CRISPR-Cas Systems
2019 StandoutNobel
Integrating single-cell transcriptomic data across different conditions, technologies, and species
2018 Standout
A general framework for estimating the relative pathogenicity of human genetic variants
2014 Standout
Identification of Candidate Gene Variants in Korean MODY Families by Whole-Exome Sequencing
2015
Variant Interpretation: Functional Assays to the Rescue
2017
IRE1α Induces Thioredoxin-Interacting Protein to Activate the NLRP3 Inflammasome and Promote Programmed Cell Death under Irremediable ER Stress
2012
Endoplasmic Reticulum Stress, Pancreatic -Cell Degeneration, and Diabetes
2012
High-performance medicine: the convergence of human and artificial intelligence
2018 Standout
Endoplasmic Reticulum Stress and the Inflammatory Basis of Metabolic Disease
2010 Standout
Memory of viral infections by CRISPR-Cas adaptive immune systems: Acquisition of new information
2012 StandoutNobel
The Genetics of Transcription Factor DNA Binding Variation
2016
The diagnosis and management of monogenic diabetes in children and adolescents
2009
Type 1 diabetes
2013 Standout
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A Paradigm of Immunodeficiency with Autoimmunity
2012
Calmodulin Controls Synaptic Strength via Presynaptic Activation of Calmodulin Kinase II
2010 StandoutNobel
Functional mapping and annotation of genetic associations with FUMA
2017 Standout
A guide to deep learning in healthcare
2018 Standout
Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases
2018 Standout
A dual-Ca2+-sensor model for neurotransmitter release in a central synapse
2007 StandoutNatureNobel
10 Years of GWAS Discovery: Biology, Function, and Translation
2017 Standout
Cell death and endoplasmic reticulum stress: disease relevance and therapeutic opportunities
2008 Standout
Mechanisms for Insulin Resistance: Common Threads and Missing Links
2012 Standout
Short Telomeres Compromise β-Cell Signaling and Survival
2011
Efficient generation of mouse models of human diseases via ABE- and BE-mediated base editing
2018 Standout
Integrating the mechanisms of apoptosis induced by endoplasmic reticulum stress
2011 Standout
Activity-Dependent IGF-1 Exocytosis Is Controlled by the Ca2+-Sensor Synaptotagmin-10
2011 StandoutNobel
Chop deletion reduces oxidative stress, improves β cell function, and promotes cell survival in multiple mouse models of diabetes
2008
Utility and implications of exome sequencing in early‐onset Parkinson's disease
2018
Complexin Activates Exocytosis of Distinct Secretory Vesicles Controlled by Different Synaptotagmins
2013 StandoutNobel
Endoplasmic reticulum stress and protein quality control in diabetic cardiomyopathy
2014
Update of mutations in the genes encoding the pancreatic beta-cell KATPchannel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism
2008
A General Computational Approach for Repeat Protein Design
2014 StandoutNobel
Genetic insights into common pathways and complex relationships among immune-mediated diseases
2013
CADD: predicting the deleteriousness of variants throughout the human genome
2018 Standout
Age-Associated mRNA and miRNA Expression Changes in the Blood-Brain Barrier
2019 StandoutNobel
The Unfolded Protein Response: A Pathway That Links Insulin Demand with β-Cell Failure and Diabetes
2008
The Unfolded Protein Response: Integrating Stress Signals Through the Stress Sensor IRE1α
2011
Diabetic Nephropathy: Diagnosis, Prevention, and Treatment
2005 Standout
Regulatory T Cells and Human Disease
2020 StandoutNobel
MISA-web: a web server for microsatellite prediction
2017 Standout
Meta-Analysis: Glycosylated Hemoglobin and Cardiovascular Disease in Diabetes Mellitus
2004 Standout
Diabetic Cardiomyopathy
2018 Standout
2012
The Unfolded Protein Response: From Stress Pathway to Homeostatic Regulation
2011 StandoutScience
Efficient Processing of Deep Neural Networks: A Tutorial and Survey
2017 Standout
IMEx: Imperfect Microsatellite Extractor
2007
Reactive Oxygen Species in Metabolic and Inflammatory Signaling
2018 Standout
Guidelines and Recommendations for Laboratory Analysis in the Diagnosis and Management of Diabetes Mellitus
2011
Maturity onset diabetes of the young: identification and diagnosis
2013
Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
Works of Ann‐Marie Patch being referenced
Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations
2010
Mutations in the ABCC8 gene encoding the SUR1 subunit of the K ATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period
2007
Novel GLIS3 mutations demonstrate an extended multisystem phenotype
2010
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis
2013
Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects
2007
Sequencing of Candidate Genes Selected by Beta Cell Experts in Monogenic Diabetes of Unknown Aetiology
2016
Insulin Mutation Screening in 1,044 Patients With Diabetes
2007
Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families
2009
TRbase: a database relating tandem repeats to disease genes for the human genome
2004
Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes
2007
Insulin gene mutations as a cause of permanent neonatal diabetes
2007
APC Mutation Marks an Aggressive Subtype of BRAF Mutant Colorectal Cancers
2020
Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood
2007