Per Hoffmann

The Madrid Manic Group (MadManic) Cohort: Multi-Omics and Digital Phenotyping For the Studies of Severe Mental Disorders and Suicidality

The MadManic cohort integrates multi-omics and digital phenotyping data from over 4,400 participants to study severe mental disorders and suicidality.

FRMPD4, a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss

The paper identifies FRMPD4 as a causal gene for X-linked non-syndromic hearing loss through genetic analysis and cross-species functional studies.

Genome-wide association study of major anxiety disorders in 122,341 European-ancestry cases identifies 58 loci and highlights GABAergic signaling

This paper identifies 58 genome-wide significant loci for major anxiety disorders using a large meta-analysis and highlights GABAergic signaling as a potential mechanism.

Generating Synthetic Task-based Brain Fingerprints for Population Neuroscience Using Deep Learning

The paper introduces DeepTaskGen, a deep learning method that generates synthetic task-based contrast maps from resting-state fMRI data, outperforming benchmarks and enabling biomarker development for cognitive tasks.

Pathway-Specific Polygenic Scores for Predicting Clinical Lithium Treatment Response in Patients with Bipolar Disorder

The paper develops pathway-specific polygenic scores to predict lithium treatment response in bipolar disorder and finds associations with specific biological pathways.

Genomic dimensions deconstruct the clinical heterogeneity of bipolar disorder

This study identifies genetic risk loci and factors underlying clinical subtypes of bipolar disorder using GWAS and meta-analysis.

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets

This study performs a GWAS meta-analysis of psoriasis, identifying 109 susceptibility loci, including 45 new ones, and highlights potential therapeutic targets and disease mechanisms.

Genetic variants for head size share genes and pathways with cancer

This study identifies 67 genetic loci associated with head size, finding strong overlaps with cancer pathways and genes, suggesting shared genetic mechanisms between head growth and cancer risk.

Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology

Meta-analysis of 41,917 European-ancestry bipolar disorder cases versus 371,549 controls yields 64 risk loci (33 novel), neuronal and synaptic gene enrichment, and 15 eQTL-prioritized genes.

Genetic factors influencing a neurobiological substrate for psychiatric disorders

The paper investigates genetic factors influencing a neurobiological substrate for psychiatric disorders and finds that a common genetic variant is associated with the substrate but not directly with disease risk.

A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank

This study identifies traits associated with polygenic risk for depression using UK Biobank data and finds causal links between depression risk and brain structure, as well as environmental interactions.

LAMP-Seq: Population-Scale COVID-19 Diagnostics Using Combinatorial Barcoding

LAMP-Seq combines three-step isothermal RT-LAMP amplification with combinatorial barcoding to pool and sequence SARS-CoV-2 clinical samples en masse for scalable diagnostics.

The genetic architecture of the human cerebral cortex

The paper identifies genetic loci associated with human cortical structure and finds genetic correlations with neuropsychiatric disorders.

Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders

The paper examines common genetic variants' contribution to bipolar disorder risk in multiplex families and finds higher polygenic risk scores in affected individuals compared to controls and unaffected family members.

A genome-wide genetic pleiotropy approach identified shared loci between multiple system atrophy and inflammatory bowel disease

This study identifies shared genetic loci between multiple system atrophy and inflammatory bowel disease using conjFDR, highlighting immune and gut-related molecular mechanisms.

Variably methylated regions in the newborn epigenome: environmental, genetic and combined influences

The paper examines how genetic and environmental factors influence DNA methylation at variably methylated regions in neonatal blood, finding that combined effects best explain methylation variability.

Genomewide association study identifies 30 loci associated with bipolar disorder

This study identifies 30 genome-wide significant loci associated with bipolar disorder, including novel genes involved in ion channels, neurotransmitters, and synaptic components.

Genome Wide Association Scan identifies new variants associated with a cognitive predictor of dyslexia.

The paper conducts a GWAS to identify genetic variants associated with a cognitive predictor of dyslexia, finding significant associations with variants near MIR924HG and NKAIN3.

Trans-ancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

This study conducts a trans-ancestral GWAS of alcohol dependence, identifying genetic variants and correlations with psychiatric disorders.

Polygenic scores for major depressive disorder and depressive symptoms predict response to lithium in patients with bipolar disorder

The paper shows that polygenic scores for depression traits predict lithium response in bipolar disorder patients, with lower genetic load linked to better treatment outcomes.

Applying polygenic risk scoring for psychiatric disorders to a large family with Bipolar Disorder and Major Depressive Disorder

The paper applies polygenic risk scoring to a large family with bipolar and depressive disorders to study genetic risk patterns and anticipation.

Genome-wide association study of suicide attempt in psychiatric disorders identifies association with major depression polygenic risk scores

This paper conducts a GWAS on suicide attempt across psychiatric disorders, identifying genetic loci and showing polygenic risk for major depression predicts suicide attempt in multiple disorders.

Age at first birth in women is genetically associated with increased risk of schizophrenia

The paper finds a genetic association between schizophrenia risk and age at first birth in women, with different genetic correlations in younger and older age groups.

Analysis of shared heritability in common disorders of the brain

Genetic correlations across 25 brain disorders (215,683 cases) reveal broad psychiatric common-variant sharing, largely distinct neurological disorders, and migraine as the only significant cross-category link.

Estimation of genetic correlation using linkage disequilibrium score regression and genomic restricted maximum likelihood

This study compares LDSC and GREML methods for estimating genetic correlation, showing GREML provides higher accuracy, especially in the presence of genetic heterogeneity.

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

Genome-wide association meta-analysis of 130,664 major depression cases and 330,470 controls identifies 44 independent risk loci enriched in cortical neurons, conserved mammalian regions, splicing networks, and antidepressant targets.

Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

This study performs a large GWAS of Alzheimer's disease, identifies four new risk loci, and highlights pathways involving immunity, lipid metabolism, and APP/Aβ processing.

High genetic loading for schizophrenia predicts poor response to lithium in patients with bipolar disorder: A polygenic score and cross-trait genetic analysis

This study finds that a higher genetic risk for schizophrenia is linked to poorer lithium response in bipolar disorder patients, suggesting potential for personalized treatment strategies.