List of works - Patrick May

A new network model explains the evolution of plant-specific metabolic networks

article

A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

scientific journal article

A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease

scientific article published on 01 September 2020

A protein prioritization approach tailored for the FA/BRCA pathway

scientific article

A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease

scientific article published on 09 July 2018

A toolbox of machine learning software to support microbiome analysis

scientific article published in 2023

Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study

scientific article published on 23 November 2023

Algebraic connectivity may explain the evolution of gene regulatory networks

article

An integrative approach towards completing genome-scale metabolic networks

scientific article published on 10 September 2009

Assessment of genetic variant burden in epilepsy-associated brain lesions

scientific article published on 29 July 2019

Association of Body Mass Index and Parkinson Disease

scientific article published on 13 August 2024

Association of cardiovascular disease management drugs with Lewy body dementia: a case–control study

scientific article published on 18 December 2023

Author Correction: Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study

scientific article published on 18 December 2023

BSA4Yeast: Web-based quantitative trait locus linkage analysis and bulk segregant analysis of yeast sequencing data.

scientific article published in June 2019

Benchmarking Low-Frequency Variant Calling With Long-Read Data on Mitochondrial DNA

publication published on 19 May 2022

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

scientific article published in Nature Communications

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

scientific article published on 21 March 2017

Birth mode is associated with earliest strain-conferred gut microbiome functions and immunostimulatory potential

scientific article published in Nature Communications

Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study

scientific article published on 01 April 2021

ChlamyCyc: an integrative systems biology database and web-portal for Chlamydomonas reinhardtii

scientific article

Clinical spectrum of STX1B-related epileptic disorders.

scientific article published on 8 February 2019

Community-integrated omics links dominance of a microbial generalist to fine-tuned resource usage

scientific article

Comparative analysis of miRNAs and their targets across four plant species

scientific article

Comparative integrated omics: identification of key functionalities in microbial community-wide metabolic networks

scientific article

Comprehensive blood metabolomics profiling of Parkinson’s disease reveals coordinated alterations in xanthine metabolism

scientific article published on 19 March 2024

Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants

scientific article published on 26 October 2020

Condensing the omics fog of microbial communities.

scientific article

Confronting the catalytic dark matter encoded by sequenced genomes.

scientific article published on 20 October 2017

Connectivity independent protein-structure alignment: a hierarchical approach.

scientific article

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes

scientific article published on 29 November 2024

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

scientific article published in 2022

Converging peripheral blood microRNA profiles in Parkinson's disease and progressive supranuclear palsy

scientific article published in 2024

Correction: A Protein Prioritization Approach Tailored for the FA/BRCA Pathway

scientific article published on 15 October 2013

Critical Assessment of MetaProteome Investigation (CAMPI): a multi-laboratory comparison of established workflows

scientific article published on 15 December 2021

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

scientific article

De novo variants in neurodevelopmental disorders with epilepsy

scientific article published on 25 June 2018

Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing

scientific article published on 23 December 2023

Distances from ligands as main predictive features for pathogenicity and functional effect of variants in NMDA receptors

scientific article published on 7 May 2024

Distribution pattern of small RNA and degradome reads provides information on miRNA gene structure and regulation

scientific article published on October 2011

Docking without docking: ISEARCH--prediction of interactions using known interfaces

scientific article

Dopamine Pathway and Parkinson's Risk Variants Are Associated with Levodopa-Induced Dyskinesia

scientific article published in October 2024

Education as Risk Factor of Mild Cognitive Impairment: The Link to the Gut Microbiome

scholarly article published in 2024

Enrichment of damaging missense variants in genes related with axonal guidance signalling in sporadic Meniere's disease

scientific article published on 07 September 2019

Erratum: Integrated multi-omics of the human gut microbiome in a case study of familial type 1 diabetes

scholarly article published in Nature Microbiology

Evaluation of Cell Line Suitability for Disease Specific Perturbation Experiments

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

scientific article

Excess of singleton loss-of-function variants in Parkinson's disease contributes to genetic risk

scientific article published on 13 February 2020

Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1

scientific article published in January 2025

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

scientific article

Expression Pattern Suggests a Role of MiR399 in the Regulation of the Cellular Response to Local Pi Increase During Arbuscular Mycorrhizal Symbiosis

article

Forecasting the dynamics of a complex microbial community using integrated meta-omics

scientific article published in January 2024

Forensic DNA Phenotyping: a review on SNP Panels, Genotyping Techniques, and Prediction Models

scientific article published on 11 March 2024

Functional prediction of proteins from the human gut archaeome

scientific article published in 2024

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

scientific article published on 17 March 2020

Genetic landscape of Parkinson’s disease and related diseases in Luxembourg

scientific article published on 20 December 2023

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

scientific article published on 15 February 2021

Genome-wide association study of copy number variations in Parkinson's disease

scientific article published on 22 August 2024

Genome-wide linkage analysis of families with primary hyperhidrosis

scientific article published on 30 December 2020

Genomic sequence diversity and population structure of Saccharomyces cerevisiae assessed by RAD-seq

scientific article published on 09 December 2013

Genomics 2 Proteins portal: A resource and discovery tool for linking genetic screening outputs to protein sequences and structures

scientific article published on 2 January 2024

Genomics 2 Proteins portal: a resource and discovery tool for linking genetic screening outputs to protein sequences and structures

scientific article published in October 2024

Give It AGO: The Search for miRNA-Argonaute Sorting Signals in Arabidopsis thaliana Indicates a Relevance of Sequence Positions Other than the 5'-Position Alone

scientific article published on 7 December 2012

Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies

article

Gut microbiome is not associated with mild cognitive impairment in Parkinson's disease

scientific article published on 6 April 2024

Hemap: An Interactive Online Resource for Characterizing Molecular Phenotypes across Hematologic Malignancies

scientific article published on 02 April 2019

Hierarchical representation of supersecondary structures using a graph-theoretical approach

scientific article

High-throughput tetrad analysis

scientific article published on 12 May 2013

Human gut microbiome gene co-expression network reveals a loss in taxonomic and functional diversity in Parkinson′s disease

scientific article published on 30 December 2024

IMP: a pipeline for reproducible reference-independent integrated metagenomic and metatranscriptomic analyses.

scientific article

Identification and classification of ncRNA molecules using graph properties

scientific article published in April 2009

Identification of nutrient-responsive Arabidopsis and rapeseed microRNAs by comprehensive real-time polymerase chain reaction profiling and small RNA sequencing

scientific article published on 22 May 2009

Identification of pathogenic variant enriched regions across genes and gene families

scientific article published on 23 December 2019

Identification, Recovery, and Refinement of Hitherto Undescribed Population-Level Genomes from the Human Gastrointestinal Tract.

scientific article published on 21 June 2016

Improving the genome-scale metabolic network of Arabidopsis thaliana

scientific article published in 2009

Integrated multi-omics of the human gut microbiome in a case study of familial type 1 diabetes

scientific article published on 10 October 2016

Integrating digital gait data with metabolomics and clinical data to predict outcomes in Parkinson’s disease

scientific article published on 06 September 2024

Integration of proteomic and metabolomic profiling as well as metabolic modeling for the functional analysis of metabolic networks

scientific article published in January 2011

Integration of time-series meta-omics data reveals how microbial ecosystems respond to disturbance

scientific article published on 19 October 2020

Isolation of nucleic acids from low biomass samples: detection and removal of sRNA contaminants

JAIL: a structure-based interface library for macromolecules

scientific article

Ligand distances as key predictors of pathogenicity and function in NMDA receptors

scientific article published on 13 November 2024

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

scientific article published on 19 July 2016

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

scientific article published in 2022

Luxembourg Parkinson's study -comprehensive baseline analysis of Parkinson's disease and atypical parkinsonism

scientific article published in 2023

Major changes of cell function and toxicant sensitivity in cultured cells undergoing mild, quasi-natural genetic drift

article

Mechanism-based classification of SARS-CoV-2 Variants by Molecular Dynamics Resembles Phylogenetic Tree

scientific article published on 29 November 2023

Mercator: a fast and simple web server for genome scale functional annotation of plant sequence data

scientific article

Metabolic networks are NP-hard to reconstruct

scientific article

Metabolomics- and proteomics-assisted genome annotation and analysis of the draft metabolic network of Chlamydomonas reinhardtii

scientific article published on May 2008

Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson's disease

scientific article published in September 2017

Missing heritability in Parkinson's disease: the emerging role of non-coding genetic variation

scientific article published on 04 April 2020

Modeling RNA loops using sequence homology and geometric constraints

scientific article

Molecular and clinical evidence for an ARMC5 tumor syndrome: concurrent inactivating germline and somatic mutations are associated with both primary macronodular adrenal hyperplasia and meningioma

scientific article

Multi-Source Data ETL (Extract, Transform, Load) for a Genetic Epilepsy Diagnosis and Treatment Dashboard

scientific article published on 22 August 2024

Mutations in RHOT1 Disrupt Endoplasmic Reticulum-Mitochondria Contact Sites Interfering with Calcium Homeostasis and Mitochondrial Dynamics in Parkinson's Disease

scientific article published on 21 August 2019

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

scientific article published on 2 November 2014

Natural variation of chronological aging in the Saccharomyces cerevisiae species reveals diet-dependent mechanisms of life span control

scientific article published on 12 March 2018

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

scientific article published on 17 May 2017

New insights into Chlamydomonas reinhardtii hydrogen production processes by combined microarray/RNA-seq transcriptomics

scientific article published on 3 April 2013

Non-Coding RNAs in the Brain-Heart Axis: The Case of Parkinson's Disease

scientific article published on 06 September 2020

POMO--Plotting Omics analysis results for Multiple Organisms

scientific article

PTGL--a web-based database application for protein topologies

scientific article published on 24 June 2004

PTGL: a database for secondary structure-based protein topologies

scientific article

PathoFact 2.0: An Integrative Pipeline for Predicting Antimicrobial Resistance Genes, Virulence Factors, Toxins and Biosynthetic Gene Clusters in Metagenomes

scientific article published on 11 December 2024

PathoFact: a pipeline for the prediction of virulence factors and antimicrobial resistance genes in metagenomic data

scientific article published on 17 February 2021

Polygenic Risk Scores Validated in Patient‐Derived Cells Stratify for Mitochondrial Subtypes of Parkinson's Disease

scientific article published on 20 May 2024

Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

scientific article published on 01 August 2020

Progression of GBA1 Gaucher-related and Parkinson’s-risk variants: A longitudinal mixed model analysis

scientific article published on 19 July 2024

Proteomic Analysis of Dhh1 Complexes Reveals a Role for Hsp40 Chaperone Ydj1 in Yeast P-Body Assembly

scientific article

Rare ABCA7 variants in 2 German families with Alzheimer disease

scientific article published on 21 March 2018

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

scientific article

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Rare gene deletions in genetic generalized and Rolandic epilepsies

scientific article published in PLoS ONE

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

scientific article

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

scientific article

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects

scientific article published in April 2017

Reply: No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease

scientific article

Roles of bacteriophages, plasmids and CRISPR immunity in microbial community dynamics revealed using time-series integrated meta-omics ⬇️

scientific article published on 02 November 2020

Sequence-structure relationships in RNA loops: establishing the basis for loop homology modeling

scientific article published on 18 November 2009

Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database

scientific article published on 01 July 2019

Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state

scientific article published on 01 April 2022

Small RNA profiling of low biomass samples: identification and removal of contaminants.

scientific article

Spectrum of GABAA receptor variants in epilepsy

scientific article published on 01 April 2019

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic Variants

scientific article published on 21 March 2022

Stars and symbiosis: microRNA- and microRNA*-mediated transcript cleavage involved in arbuscular mycorrhizal symbiosis

scientific article

Systems genomics evaluation of the SH-SY5Y neuroblastoma cell line as a model for Parkinson's disease

scientific article

Targeted proteomics for Chlamydomonas reinhardtii combined with rapid subcellular protein fractionation, metabolomics and metabolic flux analyses

scientific article published on 31 March 2010

The RNA Complement of Outer Membrane Vesicles From Serovar Typhimurium Under Distinct Culture Conditions

article

The effects of carbon dioxide and temperature on microRNA expression in Arabidopsis development

scientific article published in January 2013

The new protein topology graph library web server.

scientific article published on 6 October 2015

Unification of functional annotation descriptions using text mining

scientific article published in 2021

Variant Score Ranker-a web application for intuitive missense variant prioritization

scientific article published on 01 November 2019

List of works by Patrick May

A new network model explains the evolution of plant-specific metabolic networks

A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease

A protein prioritization approach tailored for the FA/BRCA pathway

A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease

A toolbox of machine learning software to support microbiome analysis

Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study

Algebraic connectivity may explain the evolution of gene regulatory networks

An integrative approach towards completing genome-scale metabolic networks

Assessment of genetic variant burden in epilepsy-associated brain lesions

Association of Body Mass Index and Parkinson Disease

Association of cardiovascular disease management drugs with Lewy body dementia: a case–control study

Author Correction: Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study

BSA4Yeast: Web-based quantitative trait locus linkage analysis and bulk segregant analysis of yeast sequencing data.

Benchmarking Low-Frequency Variant Calling With Long-Read Data on Mitochondrial DNA

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

Birth mode is associated with earliest strain-conferred gut microbiome functions and immunostimulatory potential

Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study

ChlamyCyc: an integrative systems biology database and web-portal for Chlamydomonas reinhardtii

Clinical spectrum of STX1B-related epileptic disorders.

Community-integrated omics links dominance of a microbial generalist to fine-tuned resource usage

Comparative analysis of miRNAs and their targets across four plant species

Comparative integrated omics: identification of key functionalities in microbial community-wide metabolic networks

Comprehensive blood metabolomics profiling of Parkinson’s disease reveals coordinated alterations in xanthine metabolism

Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants

Condensing the omics fog of microbial communities.

Confronting the catalytic dark matter encoded by sequenced genomes.

Connectivity independent protein-structure alignment: a hierarchical approach.

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

Converging peripheral blood microRNA profiles in Parkinson's disease and progressive supranuclear palsy

Correction: A Protein Prioritization Approach Tailored for the FA/BRCA Pathway

Critical Assessment of MetaProteome Investigation (CAMPI): a multi-laboratory comparison of established workflows

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

De novo variants in neurodevelopmental disorders with epilepsy

Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing

Distances from ligands as main predictive features for pathogenicity and functional effect of variants in NMDA receptors

Distribution pattern of small RNA and degradome reads provides information on miRNA gene structure and regulation

Docking without docking: ISEARCH--prediction of interactions using known interfaces

Dopamine Pathway and Parkinson's Risk Variants Are Associated with Levodopa-Induced Dyskinesia

Education as Risk Factor of Mild Cognitive Impairment: The Link to the Gut Microbiome

Enrichment of damaging missense variants in genes related with axonal guidance signalling in sporadic Meniere's disease

Erratum: Integrated multi-omics of the human gut microbiome in a case study of familial type 1 diabetes

Evaluation of Cell Line Suitability for Disease Specific Perturbation Experiments

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

Excess of singleton loss-of-function variants in Parkinson's disease contributes to genetic risk

Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

Expression Pattern Suggests a Role of MiR399 in the Regulation of the Cellular Response to Local Pi Increase During Arbuscular Mycorrhizal Symbiosis

Forecasting the dynamics of a complex microbial community using integrated meta-omics

Forensic DNA Phenotyping: a review on SNP Panels, Genotyping Techniques, and Prediction Models

Functional prediction of proteins from the human gut archaeome

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

Genetic landscape of Parkinson’s disease and related diseases in Luxembourg

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Genome-wide association study of copy number variations in Parkinson's disease

Genome-wide linkage analysis of families with primary hyperhidrosis

Genomic sequence diversity and population structure of Saccharomyces cerevisiae assessed by RAD-seq

Genomics 2 Proteins portal: A resource and discovery tool for linking genetic screening outputs to protein sequences and structures

Genomics 2 Proteins portal: a resource and discovery tool for linking genetic screening outputs to protein sequences and structures

Give It AGO: The Search for miRNA-Argonaute Sorting Signals in Arabidopsis thaliana Indicates a Relevance of Sequence Positions Other than the 5'-Position Alone

Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies

Gut microbiome is not associated with mild cognitive impairment in Parkinson's disease

Hemap: An Interactive Online Resource for Characterizing Molecular Phenotypes across Hematologic Malignancies

Hierarchical representation of supersecondary structures using a graph-theoretical approach

High-throughput tetrad analysis

Human gut microbiome gene co-expression network reveals a loss in taxonomic and functional diversity in Parkinson′s disease

IMP: a pipeline for reproducible reference-independent integrated metagenomic and metatranscriptomic analyses.

Identification and classification of ncRNA molecules using graph properties

Identification of nutrient-responsive Arabidopsis and rapeseed microRNAs by comprehensive real-time polymerase chain reaction profiling and small RNA sequencing

Identification of pathogenic variant enriched regions across genes and gene families

Identification, Recovery, and Refinement of Hitherto Undescribed Population-Level Genomes from the Human Gastrointestinal Tract.

Improving the genome-scale metabolic network of Arabidopsis thaliana

Integrated multi-omics of the human gut microbiome in a case study of familial type 1 diabetes

Integrating digital gait data with metabolomics and clinical data to predict outcomes in Parkinson’s disease

Integration of proteomic and metabolomic profiling as well as metabolic modeling for the functional analysis of metabolic networks

Integration of time-series meta-omics data reveals how microbial ecosystems respond to disturbance

Isolation of nucleic acids from low biomass samples: detection and removal of sRNA contaminants