Rare & Mendelian Diseases

Issue 428

Genome-wide association study of untargeted plasma metabolomic profiles identifies host genetic regulation in people with HIV

Issue 427

The gut microbiome as an effector of metabolic disease gene variants

Issue 417

Landscape of parental postzygotic mutations across >11,000 rare disease trios

Issue 402

Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease

Issue 375

Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction

Issue 344

A homozygous variant in cardiac troponin I3, TNNI3, causes severe pediatric restrictive cardiomyopathy

Issue 341

Estimating returns to education using the genetic lottery

Issue 338

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism

Issue 328

Variant selection to maximize variance explained in cis-Mendelian randomization

Issue 322

Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes

Issue 319

Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53

Issue 314

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care

Issue 311

When alternative becomes essential: The role of mitochondrial glycerol-3-phosphate dehydrogenase

Issue 304

Signatures of sex ratio distortion in humans

Issue 302

The Last Exon Light: A Tribute Dossier Celebrating the Scientific Career of Prof. Dr. Brunhilde Wirth

Issue 301

Leveraging large-scale biobanks for therapeutic target discovery

Issue 297

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome

Issue 292

A new form of diabetes caused by INS mutations defined by zygosity, stem cell and population data

Issue 290

SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions

Issue 281

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies

Issue 275

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes

Issue 274

RPE- specific MCT2 expression promotes cone survival in models of retinitis pigmentosa

Issue 268

A myosin hypertrophic cardiomyopathy mutation disrupts the super-relaxed state and boosts contractility by enhanced actin attachment

Issue 251

Loss of cell-autonomously secreted laminin-α2 drives muscle stem cell dysfunction in LAMA2-related muscular dystrophy

Issue 239

The Genomic Basis of the Svalbard Reindeer’s Adaptation to an Extreme Arctic Environment

Issue 230

A de novo missense variant in MIDEAS results in increased deacetylase activity of the MiDAC HDAC complex causing a neurodevelopmental syndrome

Issue 218

Multi-ancestry investigation of the genomics of erectile dysfunction

Issue 209

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing

Issue 199

Loss-of-function mutations in PLD4 lead to systemic lupus erythematosus

Issue 186

Issue 182

Issue 155

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

Issue 153

Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits

Issue 141

RetiGene, a comprehensive gene atlas for inherited retinal diseases

Issue 126

Molecular and developmental deficits in Smith-Magenis syndrome human stem cell-derived cortical neural models

Issue 122

Patient stratification reveals the molecular basis of disease co- occurrences

Issue 120

Rare variants in BMAL1 are associated with a neurodevelopmental syndrome

Issue 113

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Issue 103

Issue 096

Issue 091

A genome-wide association study in 10,000 individuals links plasma N-glycome to liver disease and anti-inflammatory proteins

Issue 089

Genome-wide association meta-analysis of human olfactory identification discovers sex-specific and sex-differential genetic variants

Issue 086

Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions

Issue 084

Variants in NR6A1 cause a novel oculo vertebral renal syndrome

Issue 083

Single-cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism

Issue 080

Genome sequencing is critical for forecasting outcomes following congenital cardiacsurgery

Issue 079

Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation

Issue 072

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathy

Issue 066

Mainstreaming of clinical genetic testing: A conceptual framework

Issue 065

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

Issue 057

Medicaid claims from 2008 to 2016 indicate low rates of genetic testing among children with intellectualdisability and autism spectrum disorder

Issue 051

Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience

Issue 048

Mainstreaming of clinical genetic testing: A conceptual framework

Issue 037

Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids

Issue 036

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy

Issue 032

Efficacy and safety of idursulfase beta in the treatment of mucopolysaccharidosis II: a phase 3, two-part study compared to a historical placebo cohort

Issue 031

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

Issue 019

Systematic identification of disease‑causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease

Issue 018

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation

Issue 009

Bayesian causal graphical model for joint Mendelian randomization analysis of multiple exposures and outcomes

Issue 007

Using high-resolution variant frequencies to empower clinical genome interpretation