Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
Published 2013 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
Authors
Keywords
-
Journal
HUMAN GENETICS
Volume 132, Issue 10, Pages 1077-1130
Publisher
Springer Nature
Online
2013-07-02
DOI
10.1007/s00439-013-1331-2
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Low-penetrant RB allele in small-cell cancer shows geldanamycin instability and discordant expression with mutant ras
- (2014) Yoonsoo Park et al. CELL CYCLE
- A Novel Non-Synonymous Polymorphism (p.Arg240His) in C4b-Binding Protein Is Associated with Atypical Hemolytic Uremic Syndrome and Leads to Impaired Alternative Pathway Cofactor Activity
- (2014) Anna M. Blom et al. JOURNAL OF IMMUNOLOGY
- Investigation ofNRXN1deletions: Clinical and molecular characterization
- (2013) Mindy Preston Dabell et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Sex dependent influence of a functional polymorphism in steroid 5-α-reductase type 2 (SRD5A2) on post-traumatic stress symptoms
- (2013) Charles F. Gillespie et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- Digenic inheritance novel mutations in SCN5a and SNTA1 increase late INa contributing to LQT syndrome
- (2013) Rou-Mu Hu et al. AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
- Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes
- (2013) Oana M. Mereuta et al. AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
- Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
- (2013) Stefano Bertolini et al. ATHEROSCLEROSIS
- Copy number variations of the F8 gene are associated with venous thromboembolism
- (2013) Wei Shen et al. BLOOD CELLS MOLECULES AND DISEASES
- Microdeletion syndromes
- (2013) Gemma L Carvill et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model
- (2013) Maria M. Alves et al. DEVELOPMENTAL BIOLOGY
- Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy
- (2013) Roberta Roncarati et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants
- (2013) Charlotte Andreasen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Prognostic implications of mutation-specific QTc standard deviation in congenital long QT syndrome
- (2013) Andrew Mathias et al. HEART RHYTHM
- Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot inATL1Blurs Autosomal Dominant Inheritance of Spastic Paraplegia
- (2013) Rita-Eva Varga et al. HUMAN MUTATION
- Using Reference Databases of Genetic Variation to Evaluate the Potential Pathogenicity of Candidate Disease Variants
- (2013) Kevin P. Kenna et al. HUMAN MUTATION
- Mutated Desmoglein-2 Proteins are Incorporated into Desmosomes and Exhibit Dominant-Negative Effects in Arrhythmogenic Right Ventricular Cardiomyopathy
- (2013) Torsten B. Rasmussen et al. HUMAN MUTATION
- Skeletal diseases caused by mutations that affect collagen structure and function
- (2013) William V. Arnold et al. INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
- Colorectal cancer in a 9-year-old due to combinedEPCAMandMSH2germline mutations: case report of a unique genotype and immunophenotype
- (2013) Hector H Li-Chang et al. JOURNAL OF CLINICAL PATHOLOGY
- A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene
- (2013) Raffaella Brugnoni et al. JOURNAL OF HUMAN GENETICS
- Gender-Dependent Penetrance of Small Heterodimer Partner (SHP) Gene Deficiency in Overweight/Obese Chinese Pedigrees
- (2013) Z Yang et al. JOURNAL OF INTERNATIONAL MEDICAL RESEARCH
- Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
- (2013) Luis R Lopes et al. JOURNAL OF MEDICAL GENETICS
- Pathophysiological insights into ALS with C9ORF72 expansions
- (2013) K. L. Williams et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Combined Complement Gene Mutations in Atypical Hemolytic Uremic Syndrome Influence Clinical Phenotype
- (2013) E. Bresin et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE
- (2013) Nasim Mavaddat et al. JNCI-Journal of the National Cancer Institute
- Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy
- (2013) Yubao Zou et al. MOLECULAR BIOLOGY REPORTS
- Analysis of genetic and predisposing factors in Japanese patients with atypical hemolytic uremic syndrome
- (2013) Xinping Fan et al. MOLECULAR IMMUNOLOGY
- Phenotypic impact of genomic structural variation: insights from and for human disease
- (2013) Joachim Weischenfeldt et al. NATURE REVIEWS GENETICS
- Molecular signature of disease onset in Granulin mutation carriers: a gene expression analysis study
- (2013) Elena Milanesi et al. NEUROBIOLOGY OF AGING
- Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease
- (2013) K. Nuytemans et al. NEUROLOGY
- Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
- (2013) David H. Margolin et al. NEW ENGLAND JOURNAL OF MEDICINE
- Autosomal Dominant Retinitis Pigmentosa Secondary to Pre-mRNA Splicing-Factor GenePRPF31(RP11): Review of Disease Mechanism and Report of a Family with a Novel 3-Base Pair Insertion
- (2013) Virginia M. Utz et al. OPHTHALMIC GENETICS
- A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease
- (2013) Neil V Morgan et al. Orphanet Journal of Rare Diseases
- Digenic heterozygousHNF1AandHNF4Amutations in two siblings with childhood-onset diabetes
- (2013) Roopa Kanakatti Shankar et al. PEDIATRIC DIABETES
- Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles
- (2013) Francisco Javier Gracia-Aznarez et al. PLoS One
- The Contribution of SAA1 Polymorphisms to Familial Mediterranean Fever Susceptibility in the Japanese Population
- (2013) Kiyoshi Migita et al. PLoS One
- A Frequent PNPLA3 Variant Is a Sex Specific Disease Modifier in PSC Patients with Bile Duct Stenosis
- (2013) Kilian Friedrich et al. PLoS One
- A Rapid Method for Simultaneous Screening of Multi-Gene Mutations Associated with Hearing Loss in the Korean Population
- (2013) Borum Sagong et al. PLoS One
- Familial Skewed X Chromosome Inactivation in Adrenoleukodystrophy Manifesting Heterozygotes from a Chinese Pedigree
- (2013) Zhihong Wang et al. PLoS One
- Comprehensive Characterization of Human Genome Variation by High Coverage Whole-Genome Sequencing of Forty Four Caucasians
- (2013) Hui Shen et al. PLoS One
- Male-Biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders
- (2013) Maria Tropeano et al. PLoS One
- Double heterozygosity for BRCA1 and hMLH1 gene mutations in a 46-year-old woman with five primary tumors
- (2013) M. Pedroni et al. Techniques in Coloproctology
- Evolution of Factor V Leiden
- (2013) Marcel Levi et al. THROMBOSIS AND HAEMOSTASIS
- Human Disease-Associated Genetic Variation Impacts Large Intergenic Non-Coding RNA Expression
- (2013) Vinod Kumar et al. PLoS Genetics
- The interaction of genetic variants and DNA methylation of the interleukin-4 receptor gene increase the risk of asthma at age 18 years
- (2013) Nelís Soto-Ramírez et al. Clinical Epigenetics
- Desmin Mutations and Arrhythmogenic Right Ventricular Cardiomyopathy
- (2012) Alessandra Lorenzon et al. AMERICAN JOURNAL OF CARDIOLOGY
- Genetic Variants on 15q25.1, Smoking, and Lung Cancer: An Assessment of Mediation and Interaction
- (2012) Tyler J. VanderWeele et al. AMERICAN JOURNAL OF EPIDEMIOLOGY
- Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation
- (2012) Clarence K. Zhang et al. AMERICAN JOURNAL OF HEMATOLOGY
- Genetic modifiers of sickle cell disease
- (2012) Martin H. Steinberg et al. AMERICAN JOURNAL OF HEMATOLOGY
- SHANK1 Deletions in Males with Autism Spectrum Disorder
- (2012) Daisuke Sato et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation
- (2012) Sarah E. Flanagan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with aPTPN11mutation and a novel variant inSOS1
- (2012) Jill A. Fahrner et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Identification of two inherited copy number variants in a male with autism supports two-hit and compound heterozygosity models of autism
- (2012) Susan Shur-Fen Gau et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- ABO Blood Group and von Willebrand Factor Levels Partially Explained the Incomplete Penetrance of Congenital Thrombophilia
- (2012) William Cohen et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- Familial Mediterranean fever: New phenotypes
- (2012) Alessandra Soriano et al. AUTOIMMUNITY REVIEWS
- A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function
- (2012) L. T. Roumenina et al. BLOOD
- An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1mutation
- (2012) John F Staropoli et al. BMC Medical Genetics
- Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
- (2012) Bradley F. Boeve et al. BRAIN
- Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management
- (2012) Simone Heidemann et al. BREAST CANCER RESEARCH AND TREATMENT
- A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
- (2012) R. De Cruz et al. BRITISH JOURNAL OF DERMATOLOGY
- Characterization of Gene-Environment Interactions for Colorectal Cancer Susceptibility Loci
- (2012) C. M. Hutter et al. CANCER RESEARCH
- A Mechanism for Gene-Environment Interaction in the Etiology of Congenital Scoliosis
- (2012) Duncan B. Sparrow et al. CELL
- Role of BMPR2 Alternative Splicing in Heritable Pulmonary Arterial Hypertension Penetrance
- (2012) Joy Cogan et al. CIRCULATION
- Penetrance of Hypertrophic Cardiomyopathy in Children and Adolescents
- (2012) Morten K. Jensen et al. CIRCULATION
- Familial Evaluation in Catecholaminergic Polymorphic Ventricular Tachycardia
- (2012) Christian van der Werf et al. Circulation-Arrhythmia and Electrophysiology
- Cardiac Myosin Binding Protein-C Mutations in Families With Hypertrophic Cardiomyopathy
- (2012) Stephen P. Page et al. Circulation-Cardiovascular Genetics
- Population-Based Variation in Cardiomyopathy Genes
- (2012) Jessica R. Golbus et al. Circulation-Cardiovascular Genetics
- Perinatal Gene-Gene and Gene-Environment Interactions on IgE Production and Asthma Development
- (2012) Jen-Chieh Chang et al. Clinical & Developmental Immunology
- Double heterozygous mutations ofMITFandPAX3result in Waardenburg syndrome with increased penetrance in pigmentary defects
- (2012) T Yang et al. CLINICAL GENETICS
- Monozygotic twins discordant for constitutiveBRCA1promoter methylation, childhood cancer and secondary cancer
- (2012) Danuta Galetzka et al. Epigenetics
- Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers
- (2012) Ingrid A.W. van Rijsingen et al. EUROPEAN JOURNAL OF HEART FAILURE
- An atypical Dent’s disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes
- (2012) Maria Addis et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Quantifying harmful mutations in human populations
- (2012) Sankar Subramanian EUROPEAN JOURNAL OF HUMAN GENETICS
- In search of triallelism in Bardet–Biedl syndrome
- (2012) Leen Abu-Safieh et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- High prevalence of genetic variants previously associated with LQT syndrome in new exome data
- (2012) Lena Refsgaard et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Acrocallosal syndrome: Identification of a novel KIF7 mutation and evidence for oligogenic inheritance
- (2012) Diana M. Walsh et al. European Journal of Medical Genetics
- A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family
- (2012) Seema Saini et al. EXPERIMENTAL EYE RESEARCH
- Low penetrance alleles as risk modifiers in familial and sporadic breast cancer
- (2012) Eva Esteban Cardeñosa et al. Familial Cancer
- Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis
- (2012) Alejandro del-Castillo-Rueda et al. GENE
- Significance of MEFV gene R202Q polymorphism in Turkish familial Mediterranean fever patients
- (2012) Serbulent Yigit et al. GENE
- FMO3 allelic variants in Sicilian and Sardinian populations: Trimethylaminuria and absence of fish-like body odor
- (2012) Rosalia D'Angelo et al. GENE
- Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling
- (2012) Huma Q. Rana et al. GENETICS IN MEDICINE
- An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals
- (2012) Gabriel A. Lazarin et al. GENETICS IN MEDICINE
- Estimates of penetrance for recurrent pathogenic copy-number variations
- (2012) Jill A. Rosenfeld et al. GENETICS IN MEDICINE
- Neonatal DNA methylation profile in human twins is specified by a complex interplay between intrauterine environmental and genetic factors, subject to tissue-specific influence
- (2012) L. Gordon et al. GENOME RESEARCH
- Sex-biased genetic effects on gene regulation in humans
- (2012) A. S. Dimas et al. GENOME RESEARCH
- CFTR,SPINK1,CTRCandPRSS1variants in chronic pancreatitis: is the role of mutatedCFTRoverestimated?
- (2012) Jonas Rosendahl et al. GUT
- Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes
- (2012) Katja Christodoulou et al. GUT
- CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients
- (2012) S. Pelucchi et al. HAEMATOLOGICA
- A case of long QT syndrome with triple gene abnormalities: Digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1
- (2012) Yukako Yoshikane et al. HEART RHYTHM
- p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient
- (2012) Lucía Núñez et al. HEART RHYTHM
- Challenges and opportunities in genome-wide environmental interaction (GWEI) studies
- (2012) Hugues Aschard et al. HUMAN GENETICS
- 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
- Interaction between genetic and epigenetic variation defines gene expression patterns at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines
- (2012) Soizik Berlivet et al. HUMAN GENETICS
- The population genetics of the Jewish people
- (2012) Harry Ostrer et al. HUMAN GENETICS
- Genome-wide investigation of gene–environment interactions in colorectal cancer
- (2012) Sabine Siegert et al. HUMAN GENETICS
- Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression
- (2012) Alireza Baradaran-Heravi et al. HUMAN MOLECULAR GENETICS
- Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder
- (2012) K. Mondal et al. HUMAN MOLECULAR GENETICS
- Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS
- (2012) Matthis Synofzik et al. HUMAN MOLECULAR GENETICS
- A coding variant in CR1 interacts with APOE-ɛ4 to influence cognitive decline
- (2012) Brendan T. Keenan et al. HUMAN MOLECULAR GENETICS
- Evidence for an oligogenic basis of amyotrophic lateral sclerosis
- (2012) Marka van Blitterswijk et al. HUMAN MOLECULAR GENETICS
- Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality
- (2012) Bastian Ackermann et al. HUMAN MOLECULAR GENETICS
- Environmental Risk Factors for Multiple Sclerosis: A Review with a Focus on Molecular Mechanisms
- (2012) Cullen O’Gorman et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Increased Activation of Hereditary Pancreatitis-associated Human Cationic Trypsinogen Mutants in Presence of Chymotrypsin C
- (2012) András Szabó et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Effect of the A736V TMPRSS6 polymorphism on the penetrance and clinical expression of hereditary hemochromatosis
- (2012) Luca Valenti et al. JOURNAL OF HEPATOLOGY
- Digenic Inheritance in Epidermolysis Bullosa Simplex
- (2012) Gilly Padalon-Brauch et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- The Germline MLH1 K618A Variant and Susceptibility to Lynch Syndrome-Associated Tumors
- (2012) Fabiola Medeiros et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry
- (2012) Richard H. Roxburgh et al. JOURNAL OF NEUROLOGY
- Extragenetic factors and clinical penetrance of DYT1 dystonia: an exploratory study
- (2012) D. Martino et al. JOURNAL OF NEUROLOGY
- Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene
- (2012) O Lekarev et al. Journal of Perinatology
- Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes
- (2012) Q. Y. Wang et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- MCAD deficiency in Denmark
- (2012) Brage Storstein Andresen et al. MOLECULAR GENETICS AND METABOLISM
- Gender differences in penetrance and phenotype in hypokalemic periodic paralysis
- (2012) Qing Ke et al. MUSCLE & NERVE
- Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
- (2012) Wenqing Fu et al. NATURE
- Patterns and rates of exonic de novo mutations in autism spectrum disorders
- (2012) Benjamin M. Neale et al. NATURE
- Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
- (2012) Cornelis A Albers et al. NATURE GENETICS
- Allele-specific FKBP5 DNA demethylation mediates gene–childhood trauma interactions
- (2012) Torsten Klengel et al. NATURE NEUROSCIENCE
- How do environments talk to genes?
- (2012) Moshe Szyf NATURE NEUROSCIENCE
- Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia
- (2012) R. Schild et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis
- (2012) Kotaro Ogaki et al. NEUROBIOLOGY OF AGING
- CACNA1A variants may modify the epileptic phenotype of Dravet syndrome
- (2012) Iori Ohmori et al. NEUROBIOLOGY OF DISEASE
- Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF
- (2012) Y.-Y. Ho et al. NEUROLOGY
- Similar clinical and neuroimaging features in monozygotic twin pair with mutation in progranulin
- (2012) E. McDade et al. NEUROLOGY
- GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy
- (2012) P. Striano et al. NEUROLOGY
- Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers
- (2012) M. Anheim et al. NEUROLOGY
- A French family with Charcot–Marie–Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations
- (2012) Anne Vital et al. NEUROMUSCULAR DISORDERS
- Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
- (2012) Santhosh Girirajan et al. NEW ENGLAND JOURNAL OF MEDICINE
- Penetrance of LRRK2 G2385R and R1628P is modified by common PD-associated genetic variants
- (2012) Chaodong Wang et al. PARKINSONISM & RELATED DISORDERS
- Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation
- (2012) Paraskevas Iatropoulos et al. PEDIATRIC NEPHROLOGY
- Characterization of a Large Group of Individuals with Huntington Disease and Their Relatives Enrolled in the COHORT Study
- (2012) E. Ray Dorsey et al. PLoS One
- Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families
- (2012) Carlos Cruchaga et al. PLoS One
- Cis-Acting Polymorphisms Affect Complex Traits through Modifications of MicroRNA Regulation Pathways
- (2012) Matthias Arnold et al. PLoS One
- Intra- and Inter-Individual Variance of Gene Expression in Clinical Studies
- (2012) Wei-Chung Cheng et al. PLoS One
- Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population
- (2012) Koji M. Nishiguchi et al. PLoS One
- Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome
- (2012) Anna Ka-Yee Kwong et al. PLoS One
- The Genetic and Environmental Bases of Complex Human-Disease: Extending the Utility of Twin-Studies
- (2012) Douglas S. Goodin PLoS One
- Mutation in Parkinson Disease-Associated, G-Protein-Coupled Receptor 37 (GPR37/PaelR) Is Related to Autism Spectrum Disorder
- (2012) Eriko Fujita-Jimbo et al. PLoS One
- Mutation Analysis of BRCA1, BRCA2, PALB2 and BRD7 in a Hospital-Based Series of German Patients with Triple-Negative Breast Cancer
- (2012) Franziska Pern et al. PLoS One
- Asthma Discordance in Twins Is Linked to Epigenetic Modifications of T Cells
- (2012) R. Scott Runyon et al. PLoS One
- The polymorphism rs944289 predisposes to papillary thyroid carcinoma through a large intergenic noncoding RNA gene of tumor suppressor type
- (2012) J. Jendrzejewski et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
- (2012) J. A. Tennessen et al. SCIENCE
- An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People
- (2012) M. R. Nelson et al. SCIENCE
- A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
- (2012) D. G. MacArthur et al. SCIENCE
- Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes
- (2012) John R. Giudicessi et al. Translational Research
- Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3
- (2012) Clara Sze-Man Tang et al. PLoS Genetics
- CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance
- (2012) Giulia Venturini et al. PLoS Genetics
- Variants Affecting Exon Skipping Contribute to Complex Traits
- (2012) Younghee Lee et al. PLoS Genetics
- Common genetic variants, acting additively, are a major source of risk for autism
- (2012) Lambertus Klei et al. Molecular Autism
- Gene–environment interactions in the development of asthma and atopy
- (2012) Adnan Custovic et al. Expert Review of Respiratory Medicine
- NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski
- (2011) Christian Thiel et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Epistatic Selection between Coding and Regulatory Variation in Human Evolution and Disease
- (2011) Tuuli Lappalainen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder
- (2011) Andrea K. Vaags et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype
- (2011) Sara Ekvall et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Furthering the link between the sarcomere and primary cardiomyopathies: Restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy
- (2011) Colleen Caleshu et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Loss-of-function thrombospondin-1 mutations in familial pulmonary hypertension
- (2011) James P. Maloney et al. AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY
- Age-Related Penetrance of Hereditary Atypical Hemolytic Uremic Syndrome
- (2011) Maren Sullivan et al. ANNALS OF HUMAN GENETICS
- Gene-Environment Interaction in Psychological Traits and Disorders
- (2011) Danielle M. Dick Annual Review of Clinical Psychology
- Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: Importance of genetic testing in the entire family
- (2011) Ana-Barbara Garcia-Garcia et al. ATHEROSCLEROSIS
- A novel type of familial hypercholesterolemia: Double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene
- (2011) Hayato Tada et al. ATHEROSCLEROSIS
- Allelic and phenotypic spectrum of plasma triglycerides
- (2011) Christopher T. Johansen et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
- ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria
- (2011) J. To-Figueras et al. BLOOD
- Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG
- (2011) S. Rigaud et al. BLOOD
- Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events
- (2011) Rocio Núñez-Torres et al. BMC Medical Genetics
- Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene
- (2011) Chia-Cheng Hung et al. BMC Medical Genetics
- KCNE1D85N polymorphism — a sex-specific modifier in type 1 long QT syndrome?
- (2011) Annukka M Lahtinen et al. BMC Medical Genetics
- Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors
- (2011) Diego N. Kaski et al. BRAIN
- Combined effect of low-penetrant SNPs on breast cancer risk
- (2011) S Harlid et al. BRITISH JOURNAL OF CANCER
- Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy
- (2011) Tara Klassen et al. CELL
- Clan Genomics and the Complex Architecture of Human Disease
- (2011) James R. Lupski et al. CELL
- Genetic Screening and Double Mutation in Japanese Patients With Hypertrophic Cardiomyopathy
- (2011) Toru Kubo et al. CIRCULATION JOURNAL
- Compound and Digenic Heterozygosity in Desmosome Genes as a Cause of Arrhythmogenic Right Ventricular Cardiomyopathy in Japanese Patients
- (2011) Tadashi Nakajima et al. CIRCULATION JOURNAL
- Excess of Rare Variants in Non–Genome-Wide Association Study Candidate Genes in Patients With Hypertriglyceridemia
- (2011) Christopher T. Johansen et al. Circulation-Cardiovascular Genetics
- Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population
- (2011) E. M. Rohlfs et al. CLINICAL CHEMISTRY
- ‘Silent’ carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient
- (2011) D Camus et al. CLINICAL GENETICS
- Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22
- (2011) CMB Carvalho et al. CLINICAL GENETICS
- Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects
- (2011) J. Breckpot et al. CYTOGENETIC AND GENOME RESEARCH
- miR-196a2 C allele is a low-penetrant risk factor for cancer development
- (2011) Li-Xin Qiu et al. CYTOKINE
- Functional characterization of the MTC-associated germline RET-K666E mutation: evidence of oncogenic potential enhanced by the G691S polymorphism
- (2011) M. G. Borrello et al. ENDOCRINE-RELATED CANCER
- Expression discordance of monozygotic twins at birth: Effect of intrauterine environment and a possible mechanism for fetal programming
- (2011) Lavinia Gordon et al. Epigenetics
- Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes
- (2011) John C. Mulley et al. EPILEPSIA
- 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
- Hereditary protein C deficiency and thrombosis risk: genotype and phenotype relation in a large Italian family
- (2011) Arturo Cafolla et al. EUROPEAN JOURNAL OF HAEMATOLOGY
- Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome
- (2011) Filip Fencl et al. EUROPEAN JOURNAL OF PEDIATRICS
- The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome
- (2011) Samuel D. Quaynor et al. FERTILITY AND STERILITY
- Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome
- (2011) Ning Xu et al. FERTILITY AND STERILITY
- Familial Mediterranean fever—A review
- (2011) Mordechai Shohat et al. GENETICS IN MEDICINE
- COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy
- (2011) Dru F. Leistritz et al. GENETICS IN MEDICINE
- Insights into the molecular correlates modulating functional compensation between monogenic and polygenic disease gene duplicates in human
- (2011) Soumita Podder et al. GENOMICS
- Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders
- (2011) Kim Fechtel et al. HUMAN GENETICS
- Mutations in the NRG1 gene are associated with Hirschsprung disease
- (2011) Clara Sze-Man Tang et al. HUMAN GENETICS
- Genomic imprinting at a boundary element flanking the SDHD locus
- (2011) Bora E. Baysal et al. HUMAN MOLECULAR GENETICS
- Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders
- (2011) C. P. Schaaf et al. HUMAN MOLECULAR GENETICS
- Digenic inheritance of mutations in FOXC1 and PITX2 : Correlating transcription factor function and axenfeld-rieger disease severity
- (2011) Daniel Kelberman et al. HUMAN MUTATION
- Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation
- (2011) Julia Vogt et al. HUMAN MUTATION
- Human genetic susceptibility to intracellular pathogens
- (2011) Fredrik O. Vannberg et al. IMMUNOLOGICAL REVIEWS
- Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity
- (2011) Živilė Čiuladaitė et al. JOURNAL OF APPLIED GENETICS
- A nonsynonymousTNFRSF11Avariation increases NFκB activity and the severity of Paget's disease
- (2011) Fernando Gianfrancesco et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Expanding the Phenotype and Genotype of Female GnRH Deficiency
- (2011) Natalie D. Shaw et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Genetic approaches to understanding human obesity
- (2011) Shwetha Ramachandrappa et al. JOURNAL OF CLINICAL INVESTIGATION
- Nicotinic Acetylcholine Receptor Polymorphism, Smoking Behavior, and Tobacco-Related Cancer and Lung and Cardiovascular Diseases: A Cohort Study
- (2011) Diljit Kaur-Knudsen et al. JOURNAL OF CLINICAL ONCOLOGY
- A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II
- (2011) Xukun Yan et al. Journal of Genetics and Genomics
- Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population
- (2011) Min-Jung Song et al. JOURNAL OF HUMAN GENETICS
- Digenic Inheritance of Mutations in the Coproporphyrinogen Oxidase and Protoporphyrinogen Oxidase Genes in a Unique Type of Porphyria
- (2011) Anne Moniek van Tuyll van Serooskerken et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Duplications ofBHLHA9are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
- (2011) Eva Klopocki et al. JOURNAL OF MEDICAL GENETICS
- A Novel Mutation in CACNA1S Gene Associated with Hypokalemic Periodic Paralysis Which has a Gender Difference in the Penetrance
- (2011) Fei-Feng Li et al. JOURNAL OF MOLECULAR NEUROSCIENCE
- An intronic SNP in the thyroid hormone receptor β gene is associated with pituitary cell-specific over-expression of a mutant thyroid hormone receptor β2 (R338W) in the index case of pituitary-selective resistance to thyroid hormone
- (2011) Anna Alberobello et al. Journal of Translational Medicine
- Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations
- (2011) Christian P. Schaaf et al. MOLECULAR GENETICS AND METABOLISM
- High frequency and reduced penetrance of lRRK2 g2019S mutation among Parkinson's disease patients in Cantabria (Spain)
- (2011) María Sierra et al. MOVEMENT DISORDERS
- Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age of onset in GBA-associated Parkinson's disease
- (2011) Ziv Gan-Or et al. NEUROGENETICS
- ADRB2 and LEPR Gene Polymorphisms: Synergistic Effects on the Risk of Obesity in Japanese
- (2011) Tiago V. Pereira et al. Obesity
- The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current
- (2011) Jianding Cheng et al. PHYSIOLOGICAL GENOMICS
- Fine Mapping of the NRG1 Hirschsprung's Disease Locus
- (2011) Clara Sze-Man Tang et al. PLoS One
- Copy Number Variants in Candidate Genes Are Genetic Modifiers of Hirschsprung Disease
- (2011) Qian Jiang et al. PLoS One
- A PTG Variant Contributes to a Milder Phenotype in Lafora Disease
- (2011) Rosa Guerrero et al. PLoS One
- Allelic Heterogeneity and Genetic Modifier Loci Contribute to Clinical Variation in Males with X-Linked Retinitis Pigmentosa Due to RPGR Mutations
- (2011) Abigail T. Fahim et al. PLoS One
- Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel
- (2011) Sharon E. Plon et al. Cancer Genetics
- Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations
- (2011) Javier T. Granados-Riveron et al. Congenital Heart Disease
- Genome-Wide Gene-Environment Study Identifies Glutamate Receptor Gene GRIN2A as a Parkinson's Disease Modifier Gene via Interaction with Coffee
- (2011) Taye H. Hamza et al. PLoS Genetics
- Physical Activity Attenuates the Influence of FTO Variants on Obesity Risk: A Meta-Analysis of 218,166 Adults and 19,268 Children
- (2011) Tuomas O. Kilpeläinen et al. PLOS MEDICINE
- The functional spectrum of low-frequency coding variation
- (2011) Gabor T Marth et al. GENOME BIOLOGY
- Hypermethylation of serotonin transporter gene in bipolar disorder detected by epigenome analysis of discordant monozygotic twins
- (2011) H Sugawara et al. Translational Psychiatry
- Alzheimer's risk variants in the clusterin gene are associated with alternative splicing
- (2011) M Szymanski et al. Translational Psychiatry
- Genetic, Epidemiological and Clinical Aspects of Hereditary Pancreatitis: A Population-Based Cohort Study in Denmark
- (2010) Maiken Thyregod Joergensen et al. AMERICAN JOURNAL OF GASTROENTEROLOGY
- 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
- High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel
- (2010) Morad Khayat et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients From Different Ethnic Groups of the Israeli Population
- (2010) Orna Geyer et al. AMERICAN JOURNAL OF OPHTHALMOLOGY
- Double heterozygosity in the BRCA1 and BRCA2 genes in the Jewish population
- (2010) O. Lavie et al. ANNALS OF ONCOLOGY
- Type 1 Gaucher Disease
- (2010) Manisha Balwani et al. ARCHIVES OF INTERNAL MEDICINE
- A monozygotic twin pair with highly discordant Gaucher phenotypes
- (2010) M. Biegstraaten et al. BLOOD CELLS MOLECULES AND DISEASES
- Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
- (2010) Frederik J Hes et al. BMC Medical Genetics
- 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
- Overlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2
- (2010) Jonathan M. Cordeiro et al. CANADIAN JOURNAL OF PHYSIOLOGY AND PHARMACOLOGY
- Mediating effects of smoking and chronic obstructive pulmonary disease on the relation between the CHRNA5-A3 genetic locus and lung cancer risk
- (2010) Jian Wang et al. CANCER
- ATR-X Syndrome Protein Targets Tandem Repeats and Influences Allele-Specific Expression in a Size-Dependent Manner
- (2010) Martin J. Law et al. CELL
- Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population
- (2010) J Sequeiros et al. CLINICAL GENETICS
- Evolutionary evidence of the effect of rare variants on disease etiology
- (2010) IP Gorlov et al. CLINICAL GENETICS
- Common genetic variants and cancer risk in Mendelian cancer syndromes
- (2010) Antonis C Antoniou et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Double Heterozygous Mutations Involving Both HNF1A/MODY3 and HNF4A/MODY1 Genes: A case report
- (2010) G. Forlani et al. DIABETES CARE
- Advances in the Etiology of Chronic Pancreatitis
- (2010) Markus M. Lerch et al. DIGESTIVE DISEASES
- First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes
- (2010) Monika Morak et al. EUROPEAN JOURNAL OF CANCER
- Toll-like receptor 4 gene polymorphism modulates phenotypic expression in patients with hereditary hemochromatosis
- (2010) Pierre-Alexandre Krayenbuehl et al. EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY
- LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population
- (2010) Dimitar N Azmanov et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy
- (2010) Gilles Millat et al. European Journal of Medical Genetics
- Combined Bicarbonate Conductance-Impairing Variants in CFTR and SPINK1 Variants Are Associated With Chronic Pancreatitis in Patients Without Cystic Fibrosis
- (2010) Alexander Schneider et al. GASTROENTEROLOGY
- Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants
- (2010) Ayman W El-Hattab et al. GENETICS IN MEDICINE
- Factor V Leiden thrombophilia
- (2010) Jody Lynn Kujovich GENETICS IN MEDICINE
- Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes
- (2010) D. L. Goode et al. GENOME RESEARCH
- Digenic mutations in severe congenital neutropenia
- (2010) M. Germeshausen et al. HAEMATOLOGICA
- Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3
- (2010) M. J. Oliva-Sandoval et al. HEART
- Long QT syndrome with compound mutations is associated with a more severe phenotype: A Japanese multicenter study
- (2010) Hideki Itoh et al. HEART RHYTHM
- A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations
- (2010) Krekwit Shinlapawittayatorn et al. HEART RHYTHM
- Fine mapping of the 9q31 Hirschsprung’s disease locus
- (2010) C. S. Tang et al. HUMAN GENETICS
- Factors influencing disease phenotype and penetrance in HFE haemochromatosis
- (2010) J. Rochette et al. HUMAN GENETICS
- Penetrance for copy number variants associated with schizophrenia
- (2010) E. Vassos et al. HUMAN MOLECULAR GENETICS
- Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics
- (2010) David N. Cooper et al. HUMAN MUTATION
- Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10
- (2010) Karin Frank-Raue et al. HUMAN MUTATION
- Mutation-Specific Effects of Polymorphism H558R inSCN5A-Related Sick Sinus Syndrome
- (2010) JUNHONG GUI et al. JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY
- High Penetrance of Pheochromocytoma Associated with the Novel C634Y/Y791F Double Germline Mutation in theRETProtooncogene
- (2010) Rodrigo A. Toledo et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
- (2010) Inga Ebermann et al. JOURNAL OF CLINICAL INVESTIGATION
- Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene
- (2010) D. Nolte et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy
- (2010) Tianhong Xu et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations
- (2010) Francesca Girolami et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Incompletely Penetrant PKD1 Alleles Mimic the Renal Manifestations of ARPKD
- (2010) M. Vujic et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- MDM2 as a Modifier Gene in Retinoblastoma
- (2010) Laurent Castéra et al. JNCI-Journal of the National Cancer Institute
- The neurology and natural history of patients with indeterminate CAG repeat length mutations of the Huntington disease gene
- (2010) Peter K. Panegyres et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Phenylketonuria
- (2010) Nenad Blau et al. LANCET
- Clinical assessment incorporating a personal genome
- (2010) Euan A Ashley et al. LANCET
- Genetics of lung-cancer susceptibility
- (2010) Paul Brennan et al. LANCET ONCOLOGY
- Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain)
- (2010) Javier Ruiz-Martínez et al. MOVEMENT DISORDERS
- Genetics of pigmentation in skin cancer — A review
- (2010) Dominique Scherer et al. MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
- A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
- (2010) R. G. Walters et al. NATURE
- Functional impact of global rare copy number variation in autism spectrum disorders
- (2010) Dalila Pinto et al. NATURE
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Sequence variants at CHRNB3–CHRNA6 and CYP2A6 affect smoking behavior
- (2010) Thorgeir E Thorgeirsson et al. NATURE GENETICS
- Phenylketonuria: a 21st century perspective
- (2010) Francjan J. van Spronsen Nature Reviews Endocrinology
- Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS)
- (2010) D. Westra et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers
- (2010) N. Finch et al. NEUROLOGY
- Comprehensive Analysis of the Achromatopsia Genes CNGA3 and CNGB3 in Progressive Cone Dystrophy
- (2010) Alberta A.H.J. Thiadens et al. OPHTHALMOLOGY
- Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions
- (2010) S. L. Martinez et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
- (2010) G. P. Sykiotis et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome
- (2010) N. A. Zaghloul et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Deep resequencing reveals excess rare recent variants consistent with explosive population growth
- (2010) Alex Coventry et al. Nature Communications
- A double heterozygote for familial hypercholesterolaemia and familial defective apolipoprotein B-100
- (2010) A. Taylor et al. ANNALS OF CLINICAL BIOCHEMISTRY
- The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients
- (2009) Tamar H. Taddei et al. AMERICAN JOURNAL OF HEMATOLOGY
- Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome
- (2009) Tao Yang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene
- (2009) Thomas W. Prior et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism
- (2009) Pei-Wen Chiang et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- An intergenerational contraction of a fully penetrant Huntington disease allele to a reduced penetrance allele: Interpretation of results and significance for risk assessment and genetic counseling
- (2009) Fatimah Nahhas et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease
- (2009) J.S.K. Kauwe et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene
- (2009) Albert Altès et al. ANNALS OF HEMATOLOGY
- Inherited Variation in Gene Expression
- (2009) Daniel A. Skelly et al. Annual Review of Genomics and Human Genetics
- Genetic Screening for Low-Penetrance Variants in Protein-Coding Genes
- (2009) Jill Waalen et al. Annual Review of Genomics and Human Genetics
- Novel PRPF31 and PRPH2 Mutations and Co-occurrence of PRPF31 and RHO Mutations in Chinese Patients With Retinitis Pigmentosa
- (2009) King Poo Lim ARCHIVES OF OPHTHALMOLOGY
- The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation
- (2009) Tohru Noguchi et al. ATHEROSCLEROSIS
- Incomplete penetrance and variable expressivity: is there a microRNA connection?
- (2009) Jasmine K. Ahluwalia et al. BIOESSAYS
- Association of rare MSH6 variants with familial breast cancer
- (2009) Marijke Wasielewski et al. BREAST CANCER RESEARCH AND TREATMENT
- A heterozygous null mutation combined with the G1258A polymorphism ofSPINK5causes impaired LEKTI function and abnormal expression of skin barrier proteins
- (2009) W-L. Di et al. BRITISH JOURNAL OF DERMATOLOGY
- Increased pachyonychia congenita severity in patients with concurrent keratin and filaggrin mutations
- (2009) R. Gruber et al. BRITISH JOURNAL OF DERMATOLOGY
- A novel association between a SNP inCYBRD1and serum ferritin levels in a cohort study ofHFEhereditary haemochromatosis
- (2009) Clare C. Constantine et al. BRITISH JOURNAL OF HAEMATOLOGY
- Nicotine dependence may link the 15q25 locus to lung cancer risk
- (2009) A. Galvan et al. CARCINOGENESIS
- NOS1AP Is a Genetic Modifier of the Long-QT Syndrome
- (2009) Lia Crotti et al. CIRCULATION
- Desmoglein-2 and Desmocollin-2 Mutations in Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomypathy Patients
- (2009) Zahurul A. Bhuiyan et al. Circulation-Cardiovascular Genetics
- Multiple gene interaction and modulation of hemostatic balance
- (2009) Massimo Franchini et al. CLINICAL CHEMISTRY AND LABORATORY MEDICINE
- Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia
- (2009) DVK Pantakani et al. CLINICAL GENETICS
- Common vs. rare allele hypotheses for complex diseases
- (2009) Nicholas J Schork et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Digenic mutations in severe myoclonic epilepsy of infancy
- (2009) Maija Bolszak et al. EPILEPSY RESEARCH
- A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy
- (2009) F. W. Friedrich et al. EUROPEAN HEART JOURNAL
- Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers
- (2009) Michelle Michels et al. EUROPEAN HEART JOURNAL
- The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family
- (2009) Erik F Hensen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females
- (2009) E. D. Austin et al. EUROPEAN RESPIRATORY JOURNAL
- Association of MUTYH and MSH6 germline mutations in colorectal cancer patients
- (2009) María Dolores Giráldez et al. Familial Cancer
- Protective effect of copy number polymorphism of glutathione S-transferase T1 gene on melanoma risk in presence of CDKN2A mutations, MC1R variants and host-related phenotypes
- (2009) Valérie Chaudru et al. Familial Cancer
- The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families
- (2009) C. J. Grocock et al. GUT
- A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis
- (2009) M.-L. Island et al. HAEMATOLOGICA
- Discordant haemophilia A in male siblings due to ade novomutation on a familial missense mutant allele
- (2009) A. KENTSIS et al. HAEMOPHILIA
- Familial transposition of the great arteries caused by multiple mutations in laterality genes
- (2009) A. De Luca et al. HEART
- Molecular genetics and epigenetics of the cytochrome P450 gene family and its relevance for cancer risk and treatment
- (2009) Cristina Rodriguez-Antona et al. HUMAN GENETICS
- Genetic risk factors for melanoma
- (2009) Kathrine Damm Meyle et al. HUMAN GENETICS
- A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance
- (2009) Thomas Rio Frio et al. HUMAN MUTATION
- The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum ofLDLRmutations and role ofPCSK9as a modifier gene
- (2009) Marianne Abifadel et al. HUMAN MUTATION
- Penetrance of pulmonary arterial hypertension is modulated by the expression of normalBMPR2allele
- (2009) Rizwan Hamid et al. HUMAN MUTATION
- Single nucleotide polymorphisms in miRNA binding sites and miRNA genes as breast/ovarian cancer risk modifiers in Jewish high-risk women
- (2009) Tair Kontorovich et al. INTERNATIONAL JOURNAL OF CANCER
- A Molecular Basis for Variation in Clinical Severity of Isolated Growth Hormone Deficiency Type II
- (2009) Rizwan Hamid et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism
- (2009) Taneli Raivio et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Duplications of the FunctionalCYP21A2Gene Are Primarily Restricted to Q318X Alleles: Evidence for a Founder Effect
- (2009) S. Kleinle et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes
- (2009) Julie Sarfati et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy
- (2009) Norann A. Zaghloul et al. JOURNAL OF CLINICAL INVESTIGATION
- Age-dependent penetrance of different germline mutations in the BRCA1 gene
- (2009) F Al-Mulla et al. JOURNAL OF CLINICAL PATHOLOGY
- Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family
- (2009) A Sanchez-Mejias et al. JOURNAL OF MEDICAL GENETICS
- Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation
- (2009) M Sevin et al. JOURNAL OF MEDICAL GENETICS
- The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening
- (2009) C Thauvin-Robinet et al. JOURNAL OF MEDICAL GENETICS
- Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
- (2009) S Ben-Shachar et al. JOURNAL OF MEDICAL GENETICS
- Fatal Kernicterus in a Girl Deficient in Glucose-6-Phosphate Dehydrogenase: A Paradigm of Synergistic Heterozygosity
- (2009) Shmuel Zangen et al. JOURNAL OF PEDIATRICS
- D85N, a KCNE1 Polymorphism, Is a Disease-Causing Gene Variant in Long QT Syndrome
- (2009) Yukiko Nishio et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Modifier genes for disorders of thrombosis and hemostasis
- (2009) R. J. WESTRICK et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease
- (2009) Sandro Rossetti et al. KIDNEY INTERNATIONAL
- Intra- and inter-individual genetic differences in gene expression
- (2009) Mark J. Cowley et al. MAMMALIAN GENOME
- Monozygotic female twins discordant for phenotype of Wilson's disease
- (2009) Anna Członkowska et al. MOVEMENT DISORDERS
- Myotonia congenita in a large consanguineous Arab family: Insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channelCLCN1gene
- (2009) Adel Shalata et al. MUSCLE & NERVE
- Homozygosity for dominant mutations increases severity of muscle channelopathies
- (2009) Marianne Arzel-hézode et al. MUSCLE & NERVE
- A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
- (2009) Hemant Khanna et al. NATURE GENETICS
- DNA methylation profiles in monozygotic and dizygotic twins
- (2009) Zachary A Kaminsky et al. NATURE GENETICS
- Genetic mechanisms and modifying factors in hereditary hemochromatosis
- (2009) Günter Weiss Nature Reviews Gastroenterology & Hepatology
- Genetics of human gene expression: mapping DNA variants that influence gene expression
- (2009) Vivian G. Cheung et al. NATURE REVIEWS GENETICS
- Detecting gene–gene interactions that underlie human diseases
- (2009) Heather J Cordell NATURE REVIEWS GENETICS
- MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study
- (2009) A. O. Caglayan et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- A mechanism for low penetrance in an ALS family with a novel SOD1 deletion
- (2009) L. Zinman et al. NEUROLOGY
- The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility
- (2009) Mara D’Onofrio et al. NEUROSCIENCE LETTERS
- Functional variant of KLOTHO: a breast cancer risk modifier among BRCA1 mutation carriers of Ashkenazi origin
- (2009) I Wolf et al. ONCOGENE
- Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci
- (2009) A de la Chapelle ONCOGENE
- Schimke Immuno-Osseous Dysplasia: Expression of SMARCAL1 in Blood and Kidney Provides Novel Insight Into Disease Phenotype
- (2009) Benjamin Dekel et al. PEDIATRIC RESEARCH
- Allele-Specific Gene Expression Is Widespread Across the Genome and Biological Processes
- (2009) Ricardo Palacios et al. PLoS One
- Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease
- (2009) L. de Pontual et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Genome-wide association study identifiesNRG1as a susceptibility locus for Hirschsprung's disease
- (2009) Maria-Mercè Garcia-Barcelo et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis
- (2009) F. Gros-Louis et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The Human Gene Mutation Database: 2008 update
- (2009) Peter D Stenson et al. Genome Medicine
- A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome
- (2009) Nanda A. Singh et al. PLoS Genetics
- High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians
- (2009) Hajime Matsuzaki et al. GENOME BIOLOGY
- Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation
- (2008) Carolyn M. Bennett et al. AMERICAN JOURNAL OF HEMATOLOGY
- Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles
- (2008) Carl E.G. Bruder et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Functional Polymorphism in THBS2 that Affects Alternative Splicing and MMP Binding Is Associated with Lumbar-Disc Herniation
- (2008) Yuichiro Hirose et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Extreme phenotypic diversity and nonpenetrance in families with theLMNA gene mutation R644C
- (2008) Julia Rankin et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Synergistic interaction of theOCA2andOCA3genes in a family
- (2008) Pei-Wen Chiang et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population
- (2008) Urban Hellman et al. AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
- Identification and functional characterization of a novel splicing mutation in RP gene PRPF31
- (2008) Jing Yu Liu et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study
- (2008) Sébastien Küry et al. BMC CANCER
- Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2mutations
- (2008) Xianqin Zhang et al. BMC Medical Genetics
- The Gly2019Ser mutation in LRRK2is not fully penetrant in familial Parkinson's disease: the GenePD study
- (2008) Jeanne C Latourelle et al. BMC Medicine
- APOE ε4 lowers age at onset and is a high risk factor for Alzheimer's disease; A case control study from central Norway
- (2008) Sigrid B Sando et al. BMC Neurology
- Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk
- (2008) Pablo Serrano-Fernández et al. BREAST CANCER RESEARCH AND TREATMENT
- Evaluation ofRETpolymorphisms in a six-generation family with G533C RET mutation: specificRETvariants may modulate age at onset and clinical presentation
- (2008) Rosana Tamanaha et al. CLINICAL ENDOCRINOLOGY
- Prevalence of Melanocortin-4 Receptor Deficiency in Europeans and Their Age-Dependent Penetrance in Multigenerational Pedigrees
- (2008) F. Stutzmann et al. DIABETES
- The Diabetic Phenotype in HNF4A Mutation Carriers Is Moderated By the Expression of HNF4A Isoforms From the P1 Promoter During Fetal Development
- (2008) L. W. Harries et al. DIABETES
- Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation
- (2008) I. N Milos et al. ENDOCRINE-RELATED CANCER
- Complement factor H Y402H decreases cardiovascular disease risk in patients with familial hypercholesterolaemia
- (2008) K. C.M.C. Koeijvoets et al. EUROPEAN HEART JOURNAL
- Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease
- (2008) G. V. Z. Dedoussis et al. EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
- Genotype–phenotype correlation in a family with primary cortisol resistance: possible modulating effect of the ER22/23EK polymorphism.
- (2008) Hussein Raef et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance
- (2008) Christine LH Snozek et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family
- (2008) Mounira Hmani-Aifa et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Synergistic heterozygosity for TGFβ1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension
- (2008) John A Phillips et al. GENETICS IN MEDICINE
- Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31
- (2008) Xue-Zhong Liu et al. HUMAN GENETICS
- Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations
- (2008) Thomas Rio Frio et al. HUMAN MOLECULAR GENETICS
- Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease
- (2008) S. Metzger et al. HUMAN MOLECULAR GENETICS
- Polygenic determinants of severe hypertriglyceridemia
- (2008) J. Wang et al. HUMAN MOLECULAR GENETICS
- In silico analysis of missense substitutions using sequence-alignment based methods
- (2008) Sean V. Tavtigian et al. HUMAN MUTATION
- Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
- (2008) Sharon E. Plon et al. HUMAN MUTATION
- Common variation inGRB-associated Binding Protein 2 (GAB2)and increased risk for Alzheimer dementia
- (2008) Kristel Sleegers et al. HUMAN MUTATION
- Report of a family segregating mutations in both the APC and MSH2 genes: juvenile onset of colorectal cancer in a double heterozygote
- (2008) N. Uhrhammer et al. INTERNATIONAL JOURNAL OF COLORECTAL DISEASE
- Genetic Analysis in Patients With Kallmann Syndrome: Coexistence of Mutations in Prokineticin Receptor 2 and KAL1
- (2008) P. Canto et al. JOURNAL OF ANDROLOGY
- Mutations inProkineticin 2andProkineticin receptor 2genes in Human Gonadotrophin-Releasing Hormone Deficiency: Molecular Genetics and Clinical Spectrum
- (2008) Lindsay W. Cole et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters
- (2008) Stefan Bröer et al. JOURNAL OF CLINICAL INVESTIGATION
- Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: An analysis of 798 patients from the ICGG Gaucher Registry
- (2008) C. Fairley et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
- (2008) Daniel G Healy et al. LANCET NEUROLOGY
- Familial Parkinsonism with digenicparkinandPINK1mutations
- (2008) Manabu Funayama et al. MOVEMENT DISORDERS
- Proportionally more deleterious genetic variation in European than in African populations
- (2008) Kirk E. Lohmueller et al. NATURE
- A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25
- (2008) Rayjean J. Hung et al. NATURE
- Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1
- (2008) Christopher I Amos et al. NATURE GENETICS
- Sex-specific genetic architecture of human disease
- (2008) Carole Ober et al. NATURE REVIEWS GENETICS
- Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis
- (2008) M. Lowik et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- LRRK2 and Parkin mutations in a family with parkinsonism—Lack of genotype–phenotype correlation
- (2008) Connie Marras et al. NEUROBIOLOGY OF AGING
- A CACNB4 mutation shows that altered Cav2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy
- (2008) Iori Ohmori et al. NEUROBIOLOGY OF DISEASE
- Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy
- (2008) Giuliana Galassi et al. NEUROMUSCULAR DISORDERS
- Combined Effect of Hemostatic Gene Polymorphisms and the Risk of Myocardial Infarction in Patients with Advanced Coronary Atherosclerosis
- (2008) Nicola Martinelli et al. PLoS One
- Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers
- (2008) K. E. Berge et al. SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION
- Germline Allele-Specific Expression of TGFBR1 Confers an Increased Risk of Colorectal Cancer
- (2008) L. Valle et al. SCIENCE
- Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy
- (2008) G. E. Oprea et al. SCIENCE
- Clinical penetrance of C282Y homozygousHFEhemochromatosis
- (2008) Enrico Rossi et al. Expert Review of Hematology
- Modifying factors of theHFEhemochromatosis phenotype
- (2008) Yves Deugnier et al. Expert Review of Gastroenterology & Hepatology
- Role of Duplicate Genes in Robustness against Deleterious Human Mutations
- (2008) Tzu-Lin Hsiao et al. PLoS Genetics
- Assessing the Evolutionary Impact of Amino Acid Mutations in the Human Genome
- (2008) Adam R. Boyko et al. PLoS Genetics
- Genetic Variation in an Individual Human Exome
- (2008) Pauline C. Ng et al. PLoS Genetics
- Gene-Environment Interaction in the Onset of Eczema in Infancy: Filaggrin Loss-of-Function Mutations Enhanced by Neonatal Cat Exposure
- (2008) Hans Bisgaard et al. PLOS MEDICINE
- A frequent functional SNP in theMMP1promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa
- (2007) Matthias Titeux et al. HUMAN MUTATION
- Plakophilin-2 missense mutations in arrhythmogenic right ventricular cardiomyopathy
- (2007) Annukka M. Lahtinen et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now