Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts

The inconsistency between two major aneuploidy-screening platforms—single-nucleotide polymorphism array and next-generation sequencing—in the detection of embryo mosaicism

(2022) Dongjia Chen et al.   BMC GENOMICS

Understanding redundancy and resilience

(2022) Philip Hunter   EMBO REPORTS

Predicting and interpreting large-scale mutagenesis data using analyses of protein stability and conservation

(2022) Magnus Haraldson Høie et al.   Cell Reports

Genetic basis of a spontaneous mutation’s expressivity

(2022) Rachel Schell et al.   GENETICS

Mapping the energetic and allosteric landscapes of protein binding domains

(2022) Andre J. Faure et al.   NATURE

Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population

(2022) Rebecca Kingdom et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

(2021) Andrew R. Harper et al.   NATURE GENETICS

Topologically associating domain boundaries that are stable across diverse cell types are evolutionarily constrained and enriched for heritability

(2021) Evonne McArthur et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Impact of Environmental Factors on Monogenic Mendelian Diseases

(2021) Anke M Tukker et al.   TOXICOLOGICAL SCIENCES

Disrupting upstream translation in mRNAs is associated with human disease

(2021) David S. M. Lee et al.   Nature Communications

Genetic disorders of the surfactant system: focus on adult disease

(2021) Coline H.M. van Moorsel et al.   European Respiratory Review

CLOVES syndrome diagnosis and treatment in an adult patient

(2021) Joana Ferreira et al.   ANNALS OF VASCULAR SURGERY

Differential DNA Methylation of the IMMP2L Gene in Families with Maternally Inherited 7q31.1 Microdeletions is Associated with Intellectual Disability and Developmental Delay

(2021) Stanislav A. Vasilyev et al.   CYTOGENETIC AND GENOME RESEARCH

Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

(2021) Monica H. Wojcik et al.   GENETICS IN MEDICINE

A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non‑syndromic deafness 2A

(2021) Qiong Li et al.   Molecular Medicine Reports

Heterozygous CTLA4 splice site mutation c.458-1G > C presenting with immunodeficiency and variable degree of immune dysregulation in three generation kindred of Caribbean descent

(2021) Upendra Mahat et al.   PEDIATRIC HEMATOLOGY AND ONCOLOGY

Rare monosomy 7 and deletion 7p at diagnosis of chronic myeloid leukemia in accelerated phase

(2021) Abdullah Alswied et al.   Cancer Genetics

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

(2021) Caroline F. Wright et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype

(2021) Menelaos Pipis et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy

(2021) Antonio de Marvao et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Frequency and management of medically actionable incidental findings from genome and exome sequencing data: a systematic review

(2021) Amal Elfatih et al.   PHYSIOLOGICAL GENOMICS

A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker

(2021) Yavor K. Bozhilov et al.   Nature Communications

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

(2021) Julia K. Goodrich et al.   Nature Communications

Monogenic and Polygenic Models of Coronary Artery Disease

(2021) Evan D. Muse et al.   Current Cardiology Reports

Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs

(2021) Martina Servetti et al.   Frontiers in Genetics

Biological Role and Clinical Implications of microRNAs in BRCA Mutation Carriers

(2021) Chiara Tommasi et al.   Frontiers in Oncology

Chromatin Conformation in Development and Disease

(2021) Ilias Boltsis et al.   Frontiers in Cell and Developmental Biology

Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype

(2021) César Payán-Gómez et al.   Application of Clinical Genetics

A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report

(2021) Yue Li et al.   BMC Medical Genomics

CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity

(2021) Barbara A Perez et al.   EMBO Molecular Medicine

Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48

(2021) Stefania Magri et al.   GENETICS IN MEDICINE

Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea

(2021) Pierre Allard et al.   HAEMATOLOGICA

Variant interpretation using population databases: Lessons from gnomAD

(2021) Sanna Gudmundsson et al.   HUMAN MUTATION

Nuclear mRNA Quality Control and Cytoplasmic NMD Are Linked by the Guard Proteins Gbp2 and Hrb1

(2021) Yen-Yun Lu et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia

(2021) Alex Sirp et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome

(2021) Yuki Taniguchi et al.   JOURNAL OF MEDICAL GENETICS

Effective gene expression prediction from sequence by integrating long-range interactions

(2021) Žiga Avsec et al.   NATURE METHODS

Cellular variability of nonsense-mediated mRNA decay

(2021) Hanae Sato et al.   Nature Communications

GRIN2A Variants Associated With Idiopathic Generalized Epilepsies

(2021) Xiao-Rong Liu et al.   Frontiers in Molecular Neuroscience

Somatic Reversion of a Novel IL2RG Mutation Resulting in Atypical X-Linked Combined Immunodeficiency

(2021) Yujuan Hou et al.   Genes

Reversion Mosaicism in Primary Immunodeficiency Diseases

(2021) Hanae Miyazawa et al.   Frontiers in Immunology

SCN1A Mutation—Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis

(2021) Jiangwei Ding et al.   Frontiers in Neurology

Untreated PKU patients without intellectual disability: SHANK gene family as a candidate modifier

(2021) K. Klaassen et al.   Molecular Genetics and Metabolism Reports

Mosaicism in Fanconi anemia: concise review and evaluation of published cases with focus on clinical course of blood count normalization

(2020) Eileen Nicoletti et al.   ANNALS OF HEMATOLOGY

Evidence for penetrance in patients without a family history of disease: a systematic review

(2020) Heather Turner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Incomplete penetrance in primary immunodeficiency: a skeleton in the closet

(2020) Conor Gruber et al.   HUMAN GENETICS

Visualizing the Role of Boundary Elements in Enhancer-Promoter Communication

(2020) Moe Yokoshi et al.   MOLECULAR CELL

A brief history of human disease genetics

(2020) Melina Claussnitzer et al.   NATURE

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders

(2020) David J. Green et al.   Genes

Genetic Modifiers and Rare Mendelian Disease

(2020) K. M. Tahsin Hassan Rahit et al.   Genes

A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line

(2020) Siddharth Kishore et al.   Cell Stem Cell

When genetic burden reaches threshold

(2020) Roddy Walsh et al.   EUROPEAN HEART JOURNAL

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

(2020) Li Xin Zhang et al.   GENETICS IN MEDICINE

Transcript expression-aware annotation improves rare variant interpretation

(2020) Beryl B. Cummings et al.   NATURE

Severe childhood speech disorder

(2020) Michael S. Hildebrand et al.   NEUROLOGY

Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease

(2020) Elena Buglo et al.   PLoS One

Deregulated Regulators: Disease-Causing cis Variants in Transcription Factor Genes

(2020) Robin van der Lee et al.   TRENDS IN GENETICS

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

(2020) Nicola Whiffin et al.   Nature Communications

Polygenic risk scores: from research tools to clinical instruments

(2020) Cathryn M. Lewis et al.   Genome Medicine

Toxic-Metal-Induced Alteration in miRNA Expression Profile as a Proposed Mechanism for Disease Development

(2020) David R. Wallace et al.   Cells

Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family

(2020) Mengshu Zhang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epigenetics and genomics in Klinefelter syndrome

(2020) Anne Skakkebæk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Frequency of genomic secondary findings among 21,915 eMERGE network participants

(2020)   GENETICS IN MEDICINE

Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals

(2020) Paul Lacaze et al.   GENETICS IN MEDICINE

Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time

(2020) Jeroen van Rooij et al.   GENETICS IN MEDICINE

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications

(2020) Ana Maria Cabal-Herrera et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach

(2020) Achilleas Laskaratos et al.   JOURNAL OF MEDICAL GENETICS

The roles of iron and HFE genotype in neurological diseases

(2020) Yunsung Kim et al.   MOLECULAR ASPECTS OF MEDICINE

Robust Hi-C Maps of Enhancer-Promoter Interactions Reveal the Function of Non-coding Genome in Neural Development and Diseases

(2020) Leina Lu et al.   MOLECULAR CELL

Interstitial lung diseases in children

(2020) Nadia Nathan et al.   PRESSE MEDICALE

Understanding the clinical manifestations of 16p11.2 deletion syndrome

(2020) Rana Fetit et al.   PSYCHIATRIC GENETICS

The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population

(2020) Nathalie Chami et al.   PLOS MEDICINE

Genetic modifiers of long‐term survival in sickle cell anemia

(2020) Ambroise Wonkam et al.   Clinical and Translational Medicine

Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes

(2020) Shannon Gallagher et al.   JAMA Network Open

Genetic modifiers in rare disorders: the case of fragile X syndrome

(2020) Hayley Crawford et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

(2020) Xiaolei Zhang et al.   GENETICS IN MEDICINE

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

(2020) Annalaura Torella et al.   PLoS One

The impact of sex on gene expression across human tissues

(2020) Meritxell Oliva et al.   SCIENCE

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

(2020) Akl C. Fahed et al.   Nature Communications

Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans

(2020) Fatema Alzahrani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

To NMD or Not To NMD: Nonsense-Mediated mRNA Decay in Cancer and Other Genetic Diseases

(2020) Fran Supek et al.   TRENDS IN GENETICS

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

(2019) Caroline F. Wright et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recent advances in Lynch syndrome

(2019) Leah H. Biller et al.   Familial Cancer

BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors

(2019) Andrew Lee et al.   GENETICS IN MEDICINE

Genomic Sequencing Expansion and Incomplete Penetrance

(2019) Joseph T.C. Shieh   PEDIATRICS

Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank

(2019) Luke C Pilling et al.   BMJ-British Medical Journal

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

(2019) Roddy Walsh et al.   Genome Medicine

Causal relationships among the gut microbiome, short-chain fatty acids and metabolic diseases

(2019) Serena Sanna et al.   NATURE GENETICS

Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants

(2019) Mor Hanany et al.   JOURNAL OF MEDICAL GENETICS

Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics

(2019) Hajrah Sarkar et al.   HUMAN MOLECULAR GENETICS

The Missing Diversity in Human Genetic Studies

(2019) Giorgio Sirugo et al.   CELL

Is population structure in the genetic biobank era irrelevant, a challenge, or an opportunity?

(2019) Daniel John Lawson et al.   HUMAN GENETICS

Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated?

(2019) Sirawit Ittisoponpisan et al.   JOURNAL OF MOLECULAR BIOLOGY

Chromatin three-dimensional interactions mediate genetic effects on gene expression

(2019) O. Delaneau et al.   SCIENCE

Diverse Genome Topologies Characterize Dosage Compensation across Species

(2019) William Jordan et al.   TRENDS IN GENETICS

Uncovering Missing Heritability in Rare Diseases

(2019) Tatiana Maroilley et al.   Genes

MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1

(2019) Michael Flower et al.   BRAIN

Co-inheritance of pathogenic variants in PKD1 and PKD2 genes presenting as severe antenatal phenotype of autosomal dominant polycystic kidney disease

(2019) Veronica Arora et al.   European Journal of Medical Genetics

Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk

(2019) Ozlem Senol-Cosar et al.   GENETICS IN MEDICINE

Advances in epigenetics link genetics to the environment and disease

(2019) Giacomo Cavalli et al.   NATURE

Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data

(2019) C. F. Wright et al.   Nature Communications

Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools

(2019) Stéphanie Villa-Nova Pereira et al.   Scientific Reports

How to get away with nonsense: Mechanisms and consequences of escape from nonsense‐mediated RNA decay

(2019) Michael C. Dyle et al.   Wiley Interdisciplinary Reviews-RNA

Developmentally regulated Shh expression is robust to TAD perturbations

(2019) Iain Williamson et al.   DEVELOPMENT

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

(2019) Stéphanie Nguengang Wakap et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings

(2019) Gioia Mastromoro et al.   European Journal of Medical Genetics

Gene–environment interactions in primary atopic disorders

(2019) Keith A Sacco et al.   CURRENT OPINION IN IMMUNOLOGY

Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease

(2019) Katharina Hopp et al.   KIDNEY INTERNATIONAL

How many rare diseases are there?

(2019) Melissa Haendel et al.   NATURE REVIEWS DRUG DISCOVERY

Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

(2019) M. T. Oetjens et al.   Nature Communications

Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar

(2019) Steven M. Harrison et al.   Genome Medicine

Genetic Modifiers at the Crossroads of Personalised Medicine for Haemoglobinopathies

(2019) Coralea Stephanou et al.   Journal of Clinical Medicine

Human gene expression variability and its dependence on methylation and aging

(2019) Nasser Bashkeel et al.   BMC GENOMICS

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes

(2019) Kishore R. Kumar et al.   PARKINSONISM & RELATED DISORDERS

Epigenetics and the Developmental Origins of Health and Disease: Parental environment signalling to the epigenome, critical time windows and sculpting the adult phenotype

(2019) Sofiane Safi-Stibler et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

(2018) Zeynep Coban-Akdemir et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autophagy and inflammation in chronic respiratory disease

(2018) Alexandra C. Racanelli et al.   Autophagy

The BabySeq project: implementing genomic sequencing in newborns

(2018) Ingrid A. Holm et al.   BMC Pediatrics

Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

(2018) S. Mohsen Hosseini et al.   CIRCULATION

Genetic modifiers of severity in sickle cell disease

(2018) Alicia K. Chang et al.   CLINICAL HEMORHEOLOGY AND MICROCIRCULATION

The central role of DNA damage and repair in CAG repeat diseases

(2018) Thomas H. Massey et al.   Disease Models & Mechanisms

FLCN : The causative gene for Birt-Hogg-Dubé syndrome

(2018) Laura S. Schmidt et al.   GENE

Paediatric genomics: diagnosing rare disease in children

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

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

(2018) Maite Calucho et al.   NEUROMUSCULAR DISORDERS

Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox

(2018) Zachary Niday et al.   NEUROSCIENTIST

Genetic variants in mRNA untranslated regions

(2018) Maristella Steri et al.   Wiley Interdisciplinary Reviews-RNA

Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries

(2018) James H. Sun et al.   CELL

Human Diseases from Gain-of-Function Mutations in Disordered Protein Regions

(2018) Xiao-Han Li et al.   CELL

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

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

Mosaic Turner syndrome shows reduced penetrance in an adult population study

(2018) Marcus A. Tuke et al.   GENETICS IN MEDICINE

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

(2018) Joanna Kennedy et al.   GENETICS IN MEDICINE

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

(2018) Lucilla Pizzo et al.   GENETICS IN MEDICINE

Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases

(2018) Anna Mensa-Vilaró et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

(2018) Mari E. K. Niemi et al.   NATURE

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk

(2018) Stephane E. Castel et al.   NATURE GENETICS

Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits

(2018) Malika Kumar Freund et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GRIN2A-related disorders: genotype and functional consequence predict phenotype

(2018) Vincent Strehlow et al.   BRAIN

Genetics meets DNA methylation in rare diseases

(2018) Guillaume Velasco et al.   CLINICAL GENETICS

Common genetic variants contribute to incomplete penetrance: evidence from cancer-free BRCA1 mutation carriers

(2018) Bradley Downs et al.   EUROPEAN JOURNAL OF CANCER

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

(2018) M. Ragan Hart et al.   GENETICS IN MEDICINE

Discovery of common and rare genetic risk variants for colorectal cancer

(2018) Jeroen R. Huyghe et al.   NATURE GENETICS

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

Allelic imbalance and haploinsufficiency in MYBPC3-linked hypertrophic cardiomyopathy

(2018) Amelia A. Glazier et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review

(2018) Dorothy A. Fink et al.   Frontiers in Genetics

A mild form of Stickler syndrome type II caused by mosaicism of COL11A1

(2017) Kathrine F. Lauritsen et al.   European Journal of Medical Genetics

Sibling recurrence of total anomalous pulmonary venous drainage

(2017) J.H. McDermott et al.   European Journal of Medical Genetics

The background puzzle: how identical mutations in the same gene lead to different disease symptoms

(2017) Jan E. Kammenga   FEBS Journal

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

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

(2017) Peter D. Stenson et al.   HUMAN GENETICS

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

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

EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome

(2017) Emily E. Miller et al.   HUMAN MOLECULAR GENETICS

Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights

(2017) Sirawit Ittisoponpisan et al.   HUMAN MUTATION

Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis

(2017) Aki Honda et al.   JOURNAL OF DERMATOLOGY

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

(2017) Konrad Platzer et al.   JOURNAL OF MEDICAL GENETICS

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

(2017) Karoline B Kuchenbaecker et al.   JNCI-Journal of the National Cancer Institute

Association analysis identifies 65 new breast cancer risk loci

(2017) Kyriaki Michailidou et al.   NATURE

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome

(2017) Michael F. Hammer et al.   PLoS One

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

(2017) Beryl B. Cummings et al.   Science Translational Medicine

Neural Glycosylphosphatidylinositol-Anchored Proteins in Synaptic Specification

(2017) Ji Won Um et al.   TRENDS IN CELL BIOLOGY

Genetic compensation: A phenomenon in search of mechanisms

(2017) Mohamed A. El-Brolosy et al.   PLoS Genetics

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

(2017) Karoline B Kuchenbaecker et al.   JNCI-Journal of the National Cancer Institute

Pathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiency

(2017) Lauren E. Heusinkveld et al.   Expert Opinion on Orphan Drugs

Fragile X syndrome

(2017) Randi J. Hagerman et al.   Nature Reviews Disease Primers

Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?

(2017) Baoheng Gui et al.   Frontiers in Genetics

ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia

(2017) Pernille M. Tørring et al.   Molecular Genetics & Genomic Medicine

History of Severe Sunburn and Risk of Skin Cancer Among Women and Men in 2 Prospective Cohort Studies

(2016) Shaowei Wu et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Implication ofLRRC4CandDPP6in neurodevelopmental disorders

(2016) Gilles Maussion et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Explaining the variable penetrance of CNVs: Parental intelligence modulates expression of intellectual impairment caused by the 22q11.2 deletion

(2016) Petra Klaassen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

23andMe: a new two-sided data-banking market model

(2016) Henri-Corto Stoeklé et al.   BMC Medical Ethics

Whole-Genome Sequencing of a Healthy Aging Cohort

(2016) Galina A. Erikson et al.   CELL

Variant haploinsufficiency and phenotypic non-penetrance inPRPF31-associated retinitis pigmentosa

(2016) A.M. Rose et al.   CLINICAL GENETICS

Beyond the simplicity of Mendelian inheritance

(2016) Joseph Schacherer   COMPTES RENDUS BIOLOGIES

A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients

(2016) Fernando Morales et al.   DNA REPAIR

Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome

(2016) Mira Kharbanda et al.   European Journal of Medical Genetics

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

MicroRNA in Control of Gene Expression: An Overview of Nuclear Functions

(2016) Caterina Catalanotto et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Ribosome Elongation Stall Directs Gene-specific Translation in the Integrated Stress Response

(2016) Sara K. Young et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The search for modifier genes in Huntington disease – Multifactorial aspects of a monogenic disorder

(2016) Larissa Arning   MOLECULAR AND CELLULAR PROBES

Netherton Syndrome: A Genotype-Phenotype Review

(2016) Constantina A. Sarri et al.   Molecular Diagnosis & Therapy

High-throughput discovery of novel developmental phenotypes

(2016) Mary E. Dickinson et al.   NATURE

Formation of new chromatin domains determines pathogenicity of genomic duplications

(2016) Martin Franke et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

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

(2016) Rong Chen et al.   NATURE BIOTECHNOLOGY

The rules and impact of nonsense-mediated mRNA decay in human cancers

(2016) Rik G H Lindeboom et al.   NATURE GENETICS

Huntington disease reduced penetrance alleles occur at high frequency in the general population

(2016) Chris Kay et al.   NEUROLOGY

Genetic Misdiagnoses and the Potential for Health Disparities

(2016) Arjun K. Manrai et al.   NEW ENGLAND JOURNAL OF MEDICINE

Quantifying prion disease penetrance using large population control cohorts

(2016) Eric Vallabh Minikel et al.   Science Translational Medicine

Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca2+-dependent inactivation

(2016) Ivy E. Dick et al.   Nature Communications

Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations

(2015) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

(2015) Rocio Acuna-Hidalgo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation

(2015) Daniel M. Ibrahim et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population

(2015) Ellen Hanson et al.   BIOLOGICAL PSYCHIATRY

Chromothriptic Cure of WHIM Syndrome

(2015) David H. McDermott et al.   CELL

Natural Variation in Gene Expression Modulates the Severity of Mutant Phenotypes

(2015) Victoria Vu et al.   CELL

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

(2015) Darío G. Lupiáñez et al.   CELL

Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2CLINICAL PERSPECTIVE

(2015) Iris C.R.M. Kolder et al.   Circulation-Cardiovascular Genetics

DCTN4 as a modifier of chronicPseudomonas aeruginosainfection in cystic fibrosis

(2015) Marion Viel et al.   Clinical Respiratory Journal

Mutations in the noncoding genome

(2015) Cheryl A. Scacheri et al.   CURRENT OPINION IN PEDIATRICS

Low-level mosaicism of a de novo derivative chromosome 9 from a t(5;9)(q35.1;q34.3) has a major phenotypic impact

(2015) B. Hervé et al.   European Journal of Medical Genetics

Allelic Imbalance Is a Prevalent and Tissue-Specific Feature of the Mouse Transcriptome

(2015) Stefan F. Pinter et al.   GENETICS

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele

(2015) Mélodie Aubart et al.   HUMAN MOLECULAR GENETICS

Lynch Syndrome Associated with TwoMLH1Promoter Variants and Allelic Imbalance ofMLH1Expression

(2015) Luke B. Hesson et al.   HUMAN MUTATION

Hereditary angioedema: Molecular and clinical differences among European populations

(2015) Matthaios Speletas et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Incomplete penetrance: The role of stochasticity in developmental cell colonization

(2015) Benjamin J. Binder et al.   JOURNAL OF THEORETICAL BIOLOGY

Regulation of Splicing Factors by Alternative Splicing and NMD Is Conserved between Kingdoms Yet Evolutionarily Flexible

(2015) Liana F. Lareau et al.   MOLECULAR BIOLOGY AND EVOLUTION

Identification of cis-suppression of human disease mutations by comparative genomics

(2015) Daniel M. Jordan et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Identification of a large set of rare complete human knockouts

(2015) Patrick Sulem et al.   NATURE GENETICS

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

(2015) Steffen Syrbe et al.   NATURE GENETICS

Predicting effects of noncoding variants with deep learning–based sequence model

(2015) Jian Zhou et al.   NATURE METHODS

Nutrition Management of Cystic Fibrosis in the 21st Century

(2015) Teresa Schindler et al.   NUTRITION IN CLINICAL PRACTICE

An assessment of sex bias in neurodevelopmental disorders

(2015) Andrew Polyak et al.   Genome Medicine

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

(2015) Slavé Petrovski et al.   PLoS Genetics

Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2CLINICAL PERSPECTIVE

(2015) Iris C.R.M. Kolder et al.   Circulation-Cardiovascular Genetics

Allelic Imbalance Is a Prevalent and Tissue-Specific Feature of the Mouse Transcriptome

(2015) Stefan F. Pinter et al.   GENETICS

Role of Titin Missense Variants in Dilated Cardiomyopathy

(2015) R. L. Begay et al.   Journal of the American Heart Association

The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals With Chromosome 16p11.2 Deletions

(2015) Andres Moreno-De-Luca et al.   JAMA Psychiatry

Genetic variants in microRNA genes: impact on microRNA expression, function, and disease

(2015) Sophia Cammaerts et al.   Frontiers in Genetics

Mechanisms of mutational robustness in transcriptional regulation

(2015) Joshua L. Payne et al.   Frontiers in Genetics

Association between Body Mass Index and Prognosis of Colorectal Cancer: A Meta-Analysis of Prospective Cohort Studies

(2015) Junga Lee et al.   PLoS One

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

(2014) Sébastien Jacquemont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Age and Cancer Risk

(2014) Mary C. White et al.   AMERICAN JOURNAL OF PREVENTIVE MEDICINE

Diverse Epigenetic Mechanisms of Human Disease

(2014) Emily Brookes et al.   Annual Review of Genetics

PathogenicEFHC1mutations are tolerated in healthy individuals dependent on reported ancestry

(2014) Ryan L. Subaran et al.   EPILEPSIA

Lung disease modifier genes in cystic fibrosis

(2014) Loic Guillot et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype

(2014) Huie Jing et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Nonsense-mediated decay in genetic disease: Friend or foe?

(2014) Jake N. Miller et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Detecting epistasis in human complex traits

(2014) Wen-Hua Wei et al.   NATURE REVIEWS GENETICS

Random monoallelic expression: regulating gene expression one allele at a time

(2014) Mélanie A. Eckersley-Maslin et al.   TRENDS IN GENETICS

Rare Complete and Partial Monosomy 7 Mosaicism Detected in a Case with FTT and Borderline Motor Delay, Subsequently Diagnosed with Juvenile MDS: An Exposition of this Case and Other Interesting Mosaic Cancer Case Studies

(2014) Vivienne M. Bickley et al.   Cancer Genetics

Epigenetics of discordant monozygotic twins: implications for disease

(2014) Juan E Castillo-Fernandez et al.   Genome Medicine

Protein Misfolding and Endoplasmic Reticulum Stress in Chronic Lung Disease

(2013) James Wei et al.   CHEST

Proteus syndrome review: molecular, clinical, and pathologic features

(2013) M. Michael Cohen   CLINICAL GENETICS

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

(2013) Lam S. Nguyen et al.   HUMAN MOLECULAR GENETICS

Phenylalanine hydroxylase: Function, structure, and regulation

(2013) Marte I. Flydal et al.   IUBMB LIFE

Molecular Mechanisms of Disease-Causing Missense Mutations

(2013) Shannon Stefl et al.   JOURNAL OF MOLECULAR BIOLOGY

miR-9 Regulation of BRCA1 and Ovarian Cancer Sensitivity to Cisplatin and PARP Inhibition

(2013) Chaoyang Sun et al.   JNCI-Journal of the National Cancer Institute

CNVs conferring risk of autism or schizophrenia affect cognition in controls

(2013) Hreinn Stefansson et al.   NATURE

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

(2013) Jason Flannick et al.   NATURE GENETICS

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

(2013) Michael N Weedon et al.   NATURE GENETICS

A genomic view of mosaicism and human disease

(2013) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

Nonsense-mediated mRNA decay: Inter-individual variability and human disease

(2013) Lam Son Nguyen et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Human Monogenic Disease Genes Have Frequently Functionally Redundant Paralogs

(2013) Wei-Hua Chen et al.   PLoS Computational Biology

Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism

(2013) Agathi-Vasiliki Goula et al.   Genes

Genetic modifiers of sickle cell disease

(2012) Martin H. Steinberg et al.   AMERICAN JOURNAL OF HEMATOLOGY

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

(2012) Yali Xue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

(2012) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans

(2012) H. T. Bae et al.   BLOOD

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

(2012) Vivienne C. M. Neeve et al.   BRAIN

Estimates of penetrance for recurrent pathogenic copy-number variations

(2012) Jill A. Rosenfeld et al.   GENETICS IN MEDICINE

Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation

(2012) Ji Kwon Park et al.   HEART RHYTHM

Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet–Biedl syndrome

(2012) Magdalena Cardenas-Rodriguez et al.   HUMAN GENETICS

Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review

(2012) Clara D.M. van Karnebeek et al.   MOLECULAR GENETICS AND METABOLISM

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

(2012) Mary J Emond et al.   NATURE GENETICS

Regulation of nonsense-mediated mRNA decay

(2012) Lulu Huang et al.   Wiley Interdisciplinary Reviews-RNA

Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8

(2011) Eyby Leon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Variable expression of neurofibromatosis 1 in monozygotic twins

(2011) Margaret B. Rieley et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Variants in the 3′ untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner

(2011) Ahmad S. Amin et al.   EUROPEAN HEART JOURNAL

Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability

(2011) L S Nguyen et al.   MOLECULAR PSYCHIATRY

Genome-wide association studies establish that human intelligence is highly heritable and polygenic

(2011) G Davies et al.   MOLECULAR PSYCHIATRY

Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155

(2011) Suhwan Chang et al.   NATURE MEDICINE

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia

(2011) E. Kim et al.   NUCLEIC ACIDS RESEARCH

Effect of Temperature on Cystic Fibrosis Lung Disease and Infections: A Replicated Cohort Study

(2011) Joseph M. Collaco et al.   PLoS One

Variabilidad fenotípica del síndrome de Marfan en una familia con una nueva mutación en el gen FBN1

(2011) Aránzazu Díaz de Bustamante et al.   REVISTA ESPANOLA DE CARDIOLOGIA

Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

(2010) Eileen Sproat Emison et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A monozygotic twin pair with highly discordant Gaucher phenotypes

(2010) M. Biegstraaten et al.   BLOOD CELLS MOLECULES AND DISEASES

Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age

(2010) Dorina M. van der Kolk et al.   BREAST CANCER RESEARCH AND TREATMENT

Predicting genetic modifier loci using functional gene networks

(2010) I. Lee et al.   GENOME RESEARCH

Revertant Mosaicism Due to a Second-Site Mutation in COL7A1 in a Patient with Recessive Dystrophic Epidermolysis Bullosa

(2010) Anna M.G. Pasmooij et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Quantification of the Relative Contribution of Environmental and Genetic Factors to Variation in Cystic Fibrosis Lung Function

(2010) J. Michael Collaco et al.   JOURNAL OF PEDIATRICS

miR-182-Mediated Downregulation of BRCA1 Impacts DNA Repair and Sensitivity to PARP Inhibitors

(2010) Patryk Moskwa et al.   MOLECULAR CELL

Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis

(2010) Sergio E. Baranzini et al.   NATURE

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

(2010) Kiran Musunuru et al.   NATURE

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Social and demographic factors that influence the diagnosis of autistic spectrum disorders

(2010) Ginny Russell et al.   SOCIAL PSYCHIATRY AND PSYCHIATRIC EPIDEMIOLOGY

Incomplete penetrance and variable expressivity: is there a microRNA connection?

(2009) Jasmine K. Ahluwalia et al.   BIOESSAYS

FLGmutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics

(2009) M. Akiyama   BRITISH JOURNAL OF DERMATOLOGY

NOS1AP Is a Genetic Modifier of the Long-QT Syndrome

(2009) Lia Crotti et al.   CIRCULATION

Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease

(2009) YuanYuan Gu et al.   NATURE

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

(2009) Hemant Khanna et al.   NATURE GENETICS

Genetic Compensation in a Human Genomic Disorder

(2009) Nadège Carelle-Calmels et al.   NEW ENGLAND JOURNAL OF MEDICINE

Update on gene modifiers in cystic fibrosis

(2008) Joseph M Collaco et al.   CURRENT OPINION IN PULMONARY MEDICINE

Pediatric writer's cramp in myoclonus-dystonia: Maternal imprinting hides positive family history

(2008) M.C.F. Gerrits et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

(2008) G. E. Oprea et al.   SCIENCE

Genetic Variation in an Individual Human Exome

(2008) Pauline C. Ng et al.   PLoS Genetics

FitSNPs: highly differentially expressed genes are more likely to have variants associated with disease

(2008) Rong Chen et al.   GENOME BIOLOGY