Genetic Modifiers and Rare Mendelian Disease

Misdiagnoses and delay of diagnoses in Moyamoya angiopathy—a large Caucasian case series

(2019) Jonas Graf et al.   JOURNAL OF NEUROLOGY

From gene to treatment: supporting rare disease translational research through model systems

(2019) Julija Hmeljak et al.   Disease Models & Mechanisms

Global Genetic Networks and the Genotype-to-Phenotype Relationship

(2019) Michael Costanzo et al.   CELL

Genomic Analysis in the Age of Human Genome Sequencing

(2019) Tuuli Lappalainen et al.   CELL

DeepPVP: phenotype-based prioritization of causative variants using deep learning

(2019) Imane Boudellioua et al.   BMC BIOINFORMATICS

The Causes and Consequences of Genetic Interactions (Epistasis)

(2019) Júlia Domingo et al.   Annual Review of Genomics and Human Genetics

Predicting disease-causing variant combinations

(2019) Sofia Papadimitriou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Uncovering Missing Heritability in Rare Diseases

(2019) Tatiana Maroilley et al.   Genes

Oligogenic inheritance of a human heart disease involving a genetic modifier

(2019) Casey A. Gifford et al.   SCIENCE

Genetic Modifiers and Non-Mendelian Aspects of CMT

(2019) Dana M. Bis-Brewer et al.   BRAIN RESEARCH

Genetic Causes and Modifiers of Autism Spectrum Disorder

(2019) Lauren Rylaarsdam et al.   Frontiers in Cellular Neuroscience

PhenoModifier: a genetic modifier database for elucidating the genetic basis of human phenotypic variation

(2019) Hong Sun et al.   NUCLEIC ACIDS RESEARCH

Using mechanistic models for the clinical interpretation of complex genomic variation

(2019) María Peña-Chilet et al.   Scientific Reports

Digenic inheritance and genetic modifiers

(2018) C. Deltas   CLINICAL GENETICS

A Review on Methods for Detecting SNP Interactions in High-Dimensional Genomic Data

(2018) Suneetha Uppu et al.   IEEE-ACM Transactions on Computational Biology and Bioinformatics

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

(2018) Cyril Pottier et al.   LANCET NEUROLOGY

Paediatric genomics: diagnosing rare disease in children

(2018) Caroline F. Wright et al.   NATURE REVIEWS GENETICS

Systematic analysis of complex genetic interactions

(2018) Elena Kuzmin et al.   SCIENCE

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

(2018) Konstantinos Voskarides et al.   BMC Nephrology

Integrating genetic and protein–protein interaction networks maps a functional wiring diagram of a cell

(2018) Benjamin VanderSluis et al.   CURRENT OPINION IN MICROBIOLOGY

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

(2018) Melodie Aubart et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Epistasis regulates the developmental stability of the mouse craniofacial shape

(2018) Ceferino Varón-González et al.   HEREDITY

Exploring genetic modifiers of Gaucher disease: The next horizon

(2018) Brad A. Davidson et al.   HUMAN MUTATION

The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers

(2018) Valentina Citro et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Hidden Risk Genes with High-Order Intragenic Epistasis in Alzheimer's Disease

(2018) Jiya Sun et al.   JOURNAL OF ALZHEIMERS DISEASE

OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants

(2018) Imane Boudellioua et al.   Scientific Reports

Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing

(2018) Mathias Cavaillé et al.   Frontiers in Genetics

The BioGRID interaction database: 2019 update

(2018) Rose Oughtred et al.   NUCLEIC ACIDS RESEARCH

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

The Gene Ontology Resource: 20 years and still GOing strong

(2018)   NUCLEIC ACIDS RESEARCH

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

(2018) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Perspectives on the Genomics of HSP Beyond Mendelian Inheritance

(2018) Dana M. Bis-Brewer et al.   Frontiers in Neurology

Coexistence of Gaucher Disease and severe congenital neutropenia

(2018) Melis Demir Kose et al.   BLOOD CELLS MOLECULES AND DISEASES

Bayesian analysis of genome-wide inflammatory bowel disease data sets reveals new risk loci

(2017) Yu Zhang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives

(2017) Maja Tarailo-Graovac et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

A Short History and Description ofDrosophila melanogasterClassical Genetics: Chromosome Aberrations, Forward Genetic Screens, and the Nature of Mutations

(2017) Thomas C. Kaufman   GENETICS

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

(2017) Michael F. Wangler et al.   GENETICS

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

(2017) Maja Tarailo-Graovac et al.   GENETICS IN MEDICINE

Genetic modifiers of Mendelian disease: Huntington’s disease and the trinucleotide repeat disorders

(2017) Peter A. Holmans et al.   HUMAN MOLECULAR GENETICS

Misdiagnosis and diagnostic delay in McArdle disease

(2017) R. Scalco et al.   NEUROMUSCULAR DISORDERS

WormBase 2017: molting into a new stage

(2017) Raymond Y N Lee et al.   NUCLEIC ACIDS RESEARCH

The Reactome Pathway Knowledgebase

(2017) Antonio Fabregat et al.   NUCLEIC ACIDS RESEARCH

Semantic prioritization of novel causative genomic variants

(2017) Imane Boudellioua et al.   PLoS Computational Biology

Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders

(2017) Ileena Mitra et al.   PLoS Genetics

Protein Phosphatase 1 Down Regulates ZYG-1 Levels to Limit Centriole Duplication

(2017) Nina Peel et al.   PLoS Genetics

A Short History and Description ofDrosophila melanogasterClassical Genetics: Chromosome Aberrations, Forward Genetic Screens, and the Nature of Mutations

(2017) Thomas C. Kaufman   GENETICS

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

(2017) Michael F. Wangler et al.   GENETICS

Genetic backgrounds and modifier genes of NTD mouse models: An opportunity for greater understanding of the multifactorial etiology of neural tube defects

(2017) Renee Y.M. Leduc et al.   Birth Defects Research

An association study revealed substantial effects of dominance, epistasis and substance dependence co-morbidity on alcohol dependence symptom count

(2016) Gang Chen et al.   ADDICTION BIOLOGY

Beyond the simplicity of Mendelian inheritance

(2016) Joseph Schacherer   COMPTES RENDUS BIOLOGIES

How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era

(2016) David Salgado et al.   HUMAN MUTATION

Structural variation detection using next-generation sequencing data

(2016) Peiyong Guan et al.   METHODS

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

(2016) Rong Chen et al.   NATURE BIOTECHNOLOGY

Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1

(2016) Sabine Rudnik-Schöneborn et al.   NEUROMUSCULAR DISORDERS

Exome Sequencing and the Management of Neurometabolic Disorders

(2016) Maja Tarailo-Graovac et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exploring genetic suppression interactions on a global scale

(2016) J. van Leeuwen et al.   SCIENCE

A global genetic interaction network maps a wiring diagram of cellular function

(2016) M. Costanzo et al.   SCIENCE

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Association ofFTOandIRX3genetic variants to obesity risk in north India

(2015) Apurva Srivastava et al.   ANNALS OF HUMAN BIOLOGY

HEALER: homomorphic computation of ExAct Logistic rEgRession for secure rare disease variants analysis in GWAS

(2015) Shuang Wang et al.   BIOINFORMATICS

Spectrum of variations in dog-1/FANCJ and mdf-1/MAD1 defective Caenorhabditis elegans strains after long-term propagation

(2015) Maja Tarailo-Graovac et al.   BMC GENOMICS

Fruit Flies in Biomedical Research

(2015) M. F. Wangler et al.   GENETICS

A cautionary note on the impact of protocol changes for genome-wide association SNP × SNP interaction studies: an example on ankylosing spondylitis

(2015) Kyrylo Bessonov et al.   HUMAN GENETICS

Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings

(2015) Sara Missaglia et al.   MOLECULAR GENETICS AND METABOLISM

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Deep learning

(2015) Yann LeCun et al.   NATURE

Machine learning applications in genetics and genomics

(2015) Maxwell W. Libbrecht et al.   NATURE REVIEWS GENETICS

DIDA: A curated and annotated digenic diseases database

(2015) Andrea M. Gazzo et al.   NUCLEIC ACIDS RESEARCH

Machine learning: Trends, perspectives, and prospects

(2015) M. I. Jordan et al.   SCIENCE

Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis

(2015) Harriet Corvol et al.   Nature Communications

Genetic Modifiers and Oligogenic Inheritance

(2015) M. Kousi et al.   Cold Spring Harbor Perspectives in Medicine

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

DANN: a deep learning approach for annotating the pathogenicity of genetic variants

(2014) Daniel Quang et al.   BIOINFORMATICS

Whole genome profiling of spontaneous and chemically induced mutations in Toxoplasma gondii

(2014) Andrew Farrell et al.   BMC GENOMICS

Cyclin B3 and dynein heavy chain cooperate to increase fitness in the absence ofmdf-1/MAD1inCaenorhabditis elegans

(2014) Maja Tarailo-Graovac et al.   CELL CYCLE

Functional annotation of noncoding sequence variants

(2014) Graham R S Ritchie et al.   NATURE METHODS

Beyond GWASs: Illuminating the Dark Road from Association to Function

(2013) Stacey L. Edwards et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NeuroGeM, a knowledgebase of genetic modifiers in neurodegenerative diseases

(2013) Dokyun Na et al.   BMC Medical Genomics

The million mutation project: A new approach to genetics in Caenorhabditis elegans

(2013) O. Thompson et al.   GENOME RESEARCH

Digenic inheritance in medical genetics

(2013) Alejandro A Schäffer   JOURNAL OF MEDICAL GENETICS

A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome

(2013) Christie M Buchovecky et al.   NATURE GENETICS

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

Genotype to phenotype: lessons from model organisms for human genetics

(2013) Ben Lehner   NATURE REVIEWS GENETICS

Development of GMDR-GPU for Gene-Gene Interaction Analysis and Its Application to WTCCC GWAS Data for Type 2 Diabetes

(2013) Zhixiang Zhu et al.   PLoS One

Identifying Personal Genomes by Surname Inference

(2013) M. Gymrek et al.   SCIENCE

Genetic interaction networks: better understand to better predict

(2013) Benjamin Boucher et al.   Frontiers in Genetics

Modifier Genes and the Plasticity of Genetic Networks in Mice

(2012) Bruce A. Hamilton et al.   PLoS Genetics

Clan Genomics and the Complex Architecture of Human Disease

(2011) James R. Lupski et al.   CELL

Large-scale genetic epistasis networks using RNAi

(2011) Xiaoyue Wang et al.   NATURE METHODS

PhenomeNET: a whole-phenome approach to disease gene discovery

(2011) R. Hoehndorf et al.   NUCLEIC ACIDS RESEARCH

Molecular mechanisms of epistasis within and between genes

(2011) Ben Lehner   TRENDS IN GENETICS

BOOST: A Fast Approach to Detecting Gene-Gene Interactions in Genome-wide Case-Control Studies

(2010) Xiang Wan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Modifiers of Hearing Impairment in Humans and Mice

(2010) Denise Yan et al.   CURRENT GENOMICS

Saturation of the Human Phenome

(2010) Mark E. Samuels   CURRENT GENOMICS

On the Distinction Between Interaction and Effect Modification

(2010) Tyler J. VanderWeele   EPIDEMIOLOGY

Predicting genetic modifier loci using functional gene networks

(2010) I. Lee et al.   GENOME RESEARCH

Genetic variation in the autophagy gene ULK1 and risk of Crohnʼs disease

(2010) Liesbet Henckaerts et al.   INFLAMMATORY BOWEL DISEASES

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

(2010) Inga Ebermann et al.   JOURNAL OF CLINICAL INVESTIGATION

Analysis of the high affinity IgE receptor genes reveals epistatic effects of FCER1A variants on eczema risk

(2009) J. M. Mahachie John et al.   ALLERGY

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

(2009) Thomas W. Prior et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recognizing and avoiding siRNA off-target effects for target identification and therapeutic application

(2009) Aimee L. Jackson et al.   NATURE REVIEWS DRUG DISCOVERY

Detecting gene–gene interactions that underlie human diseases

(2009) Heather J Cordell   NATURE REVIEWS GENETICS

ENU Mutagenesis, a Way Forward to Understand Gene Function

(2008) Abraham Acevedo-Arozena et al.   Annual Review of Genomics and Human Genetics

Non-additive and Additive Genetic Effects on Extraversion in 3314 Dutch Adolescent Twins and Their Parents

(2008) David C. Rettew et al.   BEHAVIOR GENETICS

A single gene network accurately predicts phenotypic effects of gene perturbation in Caenorhabditis elegans

(2008) Insuk Lee et al.   NATURE GENETICS

Epistasis — the essential role of gene interactions in the structure and evolution of genetic systems

(2008) Patrick C. Phillips   NATURE REVIEWS GENETICS

Genetic Modifiers of MeCP2 Function in Drosophila

(2008) Holly N. Cukier et al.   PLoS Genetics

Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays

(2008) Nils Homer et al.   PLoS Genetics

GeneMANIA: a real-time multiple association network integration algorithm for predicting gene function

(2008) Sara Mostafavi et al.   GENOME BIOLOGY