Patrick May
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| Faculté ou Centre | Luxembourg Centre for Systems Biomedicine | ||||
| Adresse postale |
Université du Luxembourg 6, avenue du Swing L-4367 Belvaux |
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| Bureau sur le campus | BioTech II Ketterthill, 4.03 | ||||
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| Téléphone | (+352) 46 66 44 6263 | ||||
Senior Resercher in the Bioinformatics Core group (R. Schneider Lab)
Last updated on: mardi 01 décembre 2015
Articles publiés dans des périodiques scientifiques
A rare loss-of function variant of ADAM17 is associated with late-onset familial Alzheimer disease; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Molecular Psychiatry (in press)
De novo Variants in Neurodevelopmental Disorders with Epilepsy; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Nature Genetics (2018)
Small RNA profiling of low biomass samples: identification and removal of contaminants; ; ; ; ; ; ; ; ; ;
in BMC Biology (2018), 16(52),
Rare ABCA7 variants in 2 German families with Alzheimer disease; ; ; ; ; ; ; ; ;
in Neurology Genetics (2018), 4(2),
Natural variation of chronological aging in the Saccharomyces cerevisiae species reveals diet-dependent mechanisms of life span control; ; ; ; ; ;
in npj Aging and Mechanisms of Disease (2018), 4(3),
Reply: No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson’s disease; ; ; ; ;
in Brain : A Journal of Neurology (2018)
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic Epilepsy; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in European Journal of Human Genetics (2018)
Confronting the catalytic dark matter encoded by sequenced genomes; ; ; ;
in Nucleic Acids Research (2017), 45(20), 11495-11514
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Brain : A Journal of Neurology (2017), 140(11), 2879-2894
Alterations in the α2δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Epilepsia (2017)
Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson's disease; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Brain : A Journal of Neurology (2017), 140(9), 2444-2459
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in European Journal of Human Genetics (2017)
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Neurobiology of Aging (2017)
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in American Journal of Human Genetics (2017), 100(4), 676-688
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects; ; ; ; ; ; ; ; ; ; ; ; ;
in American Journal of Medical Genetics. Part A (2017), 173(4), 1119-1123
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in American Journal of Human Genetics (2017), 100(1), 179-
IMP: a pipeline for reproducible referenceindependent integrated metagenomic and metatranscriptomic analyses; ; ; ; ; ; ; ; ;
in Genome Biology (2016), 17
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Molecular Genetics & Genomic Medicine (2016), 4(5), 568-80
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Brain : A Journal of Neurology (2016)
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in PLoS ONE (2016)
Erratum: Integrated multi-omics of the human gut microbiome in a case study of familial type 1 diabetes.; ; ; ; ; ; ; ; ; ;
in Nature microbiology (2016), 2
Integrated multi-omics of the human gut microbiome in a case study of familial type 1 diabetes.; ; ; ; ; ; ; ; ; ;
in Nature microbiology (2016), 2
Identification, recovery, and refinement of hitherto undescribed population-level genomes from the human gastrointestinal tract; ; ; ; ; ; ; ;
in Frontiers in Microbiology (2016), 7(884),
A novel Fanconi anemia subtype associated with a dominant-negative mutation in RAD51; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Nature Communications (2015), 6(8829),
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Brain : A Journal of Neurology (2015)
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Nature Genetics (2015), 47(4), 393-9
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Neurology (2015), 84(9), 951-958
The phenotypic spectrum of SCN8A encephalopathy; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Neurology (2015), 84(5), 480-489
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly; ; ; ; ; ; ; ; ; ; ; ;
in Human Molecular Genetics (2015), 24(8), 2218-2227
Comparative integrated omics: identification of key functionalities in microbial community-wide metabolic networks; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Biofilms and Microbiomes (2015), 1(15007),
Systems genomics evaluation of the SH-SY5Y neuroblastoma cell line as a model for Parkinson’s disease; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in BMC Genomics (2014), 15(1154),
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Nature Genetics (2014), 46(12), 1327-32
Community-integrated omics links dominance of a microbial generalist to fine-tuned resource usage; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Nature Communications (2014)
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; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Journal of Clinical Endocrinology and Metabolism (2014)
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in American Journal of Human Genetics (2014), 4
De novo mutations in HCN1 cause early infantile epileptic encephalopathy; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Nature Genetics (2014)
Mercator: A fast and simple web server for genome scale functional annotation of plant sequence data; ; ; ; ; ; ; ; ;
in Plant, Cell & Environment (2014), 37(5), 1250-8
POMO - Plotting Omics analysis results for Multiple Organisms; ; ; ; ; ; ;
in BMC Genomics (2013), 14(918),
Genomic Sequence Diversity and Population Structure of Saccharomyces cerevisiae Assessed by RAD-seq; ; ; ; ; ; ; ;
in Genes, Genomes and Genomics (2013), 3(12), 2163-2171
The Effects of Carbon Dioxide and Temperature on microRNA Expression in Arabidopsis Development; ; ; ; ; ;
in Nature Communications (2013), 4(2145),
A Protein Prioritization Approach Tailored for the FA/BRCA Pathway; ; ; ; ; ;
in PLoS ONE (2013), 8(4), 62017
Hierarchical representation of supersecondary structures using a graph-theoretical approach.; ;
in Methods in Molecular Biology (Clifton, N.J.) (2013), 932
Condensing the omics fog of microbial communities; ; ; ;
in Trends in Microbiology (2013), 21(7), 325333
New insights into Chlamydomonas reinhardtii hydrogen production processes by combined microarray/RNA-seq transcriptomics.; ; ; ; ; ;
in Plant Biotechnology Journal (2013)
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.; ; ;
in Frontiers in Plant Science (2012), 3
Distribution pattern of small RNA and degradome reads provides information on miRNA gene structure and regulation.; ; ;
in Plant signaling & behavior (2011), 6(10), 1609-11
Stars and symbiosis: microRNA- and microRNA*-mediated transcript cleavage involved in arbuscular mycorrhizal symbiosis.; ; ;
in Plant Physiology (2011), 156(4), 1990-2010
Comparative analysis of miRNAs and their targets across four plant species.; ;
in BMC Research Notes (2011), 4
Integration of proteomic and metabolomic profiling as well as metabolic modeling for the functional analysis of metabolic networks.; ; ; ;
in Methods in Molecular Biology (Clifton, N.J.) (2011), 694
Expression pattern suggests a role of MiR399 in the regulation of the cellular response to local Pi increase during arbuscular mycorrhizal symbiosis.; ; ; ; ; ; ; ;
in Molecular plant-microbe interactions : MPMI (2010), 23(7), 915-26
PTGL: a database for secondary structure-based protein topologies.; ; ;
in Nucleic Acids Research (2010), 38(Database issue), 326-30
Algebraic connectivity may explain the evolution of gene regulatory networks.; ;
in Journal of Theoretical Biology (2010), 267(1), 7-14
Sequence-structure relationships in RNA loops: establishing the basis for loop homology modeling.; ; ;
in Nucleic Acids Research (2010), 38(3), 970-80
Modeling RNA loops using sequence homology and geometric constraints.; ;
in Bioinformatics (Oxford, England) (2010), 26(13), 1671-2
Targeted proteomics for Chlamydomonas reinhardtii combined with rapid subcellular protein fractionation, metabolomics and metabolic flux analyses.; ; ; ; ; ; ; ; ; ;
in Molecular Biosystems (2010), 6(6), 1018-31
Identification and classification of ncRNA molecules using graph properties.; ; ;
in Nucleic Acids Research (2009), 37(9), 66
An integrative approach towards completing genome-scale metabolic networks.; ; ; ;
in Molecular Biosystems (2009), 5(12), 1889-903
JAIL: a structure-based interface library for macromolecules.; ; ;
in Nucleic Acids Research (2009), 37(Database issue), 338-41
ChlamyCyc: an integrative systems biology database and web-portal for Chlamydomonas reinhardtii.; ; ;
in BMC Genomics (2009), 10
Identification of nutrient-responsive Arabidopsis and rapeseed microRNAs by comprehensive real-time polymerase chain reaction profiling and small RNA sequencing.; ; ; ; ; ; ;
in Plant Physiology (2009), 150(3), 1541-55
Metabolomics- and proteomics-assisted genome annotation and analysis of the draft metabolic network of Chlamydomonas reinhardtii.; ; ; ; ; ; ; ; ; ;
in Genetics (2008), 179(1), 157-66
Metabolic networks are NP-hard to reconstruct.; ; ;
in Journal of Theoretical Biology (2008), 254(4), 807-16
Docking without docking: ISEARCH--prediction of interactions using known interfaces.; ; ; ;
in Proteins (2007), 69(4), 839-44
Connectivity independent protein-structure alignment: a hierarchical approach.; ; ; ;
in BMC Bioinformatics (2006), 7
PTGL--a web-based database application for protein topologies.; ;
in Bioinformatics (Oxford, England) (2004), 20(17), 3277-9
Colloques et congrès scientifiques – Communication publiée dans un périodique
Identification and Characterization of Variant Intolerant Sites across Human Protein 3-Dimensional Structures; ; ; ; ; ; ; ; ; ;
in Biophysical Journal (2018, February 02), 114(3, Suppl. 1), 664
Discovery and pathogenicity assessment of neuropathology-associated gene variants; ; ; ; ; ; ; ; ; ;
in Epilepsia (2017, December 08), 58(Suppl.5), 174
Rare variant analysis of the PPMI dataset to uncover the complex genetic architecture of Parkinson’s disease; ;
in Movement Disorders : Official Journal of the Movement Disorder Society (2017, June 02), 322(Supplement S2), 405
IDENTIFICATION OF A RARE GENE VARIANT THAT IS ASSOCIATED WITH FAMILIAL ALZHEIMER DISEASE AND REGULATES APP EXPRESSION; ; ; ; ; ; ; ; ; ; ; ; ;
in Alzheimer's & Dementia : The Journal of the Alzheimer's Association (2017), 13(7, Supplement), 648
“Melanomics”: analysis and integration of whole genomes, transcriptomes and miRNomes of primary melanoma patients; ; ; ; ; ; ; ;
in European Journal of Cancer (2016), 61(Suppl.1), 32
Contributions à des ouvrages collectifs
Extraction and Analysis of RNA Isolated from Pure Bacteria-Derived Outer Membrane Vesicles; ; ; ; ; ; ;
in Arluison, Véronique; Valverde, Claudio Valverde (Eds.) Bacterial Regulatory RNA (2018)
Colloques et congrès scientifiques – Communication publiée dans un ouvrage
Variant-DB: A Tool for Efficiently Exploring Millions of Human Genetic Variants and Their Annotations;
in Da Silveira, Marcos; Pruski, Cédric; Schneider, Reinhard (Eds.) DILS 2017: Data Integration in the Life Sciences (2017, October 24)
Evaluation of Cell Line Suitability for Disease Specific Perturbation Experiments.; ; ; ;
in Lausen, Berthold; Krolak-Schwerdt, Sabine; Böhmer, Matthias (Eds.) Data Science, Learning by Latent Structures, and Knowledge Discovery (2015, February 20)
Computation and Visualization of Protein Topology Graphs Including Ligand Information; ;
in Böcker, Sebasttian; Hufsky, Franziska; Scheubert, Kerstin; Schleicher, Jana; Schuster, Stefan (Eds.) German Conference on Bioinformatics 2012 (2012)
Accelerated microRNA-Precursor Detection Using the Smith-Waterman Algorithm on FPGAs; ; ;
in Dubitzky, Werner; Schuster, Assaf; Sloot, Peterm A.; Schroeder, Michael; Romberg, Mathilde (Eds.) Distributed, High-Performance and Grid Computing in Computational Biology (2007)
ZIB Structure Prediction Pipeline: Composing a Complex Biological Workflow through Web Services; ;
in Nagel, Wolfgang E.; Walter, Wolfgang V.; Lehner, Wolfgang (Eds.) Euro-Par 2006 Parallel Processing (2006)
E-Prints/Working papers – diffusé en premier sur un site externe
Isolation of nucleic acids from low biomass samples: detection and removal of sRNA contaminants; ; ; ; ; ; ; ; ; ;
E-print/Working paper (2017)
The Spectrum Of De Novo Variants In Neurodevelopmental Disorders With Epilepsy; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
E-print/Working paper (2017)
Reassessment Of Lesion-Associated Gene And Variant Pathogenicity In Focal Human Epilepsies; ; ; ; ; ; ;
E-print/Working paper (2017)
Colloques et congrès scientifiques – Communication orale non publiée
Community integrated omics links the dominance of a microbial generalist to fine-tuned resource usage; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
Scientific Conference (2014)
Colloques et congrès scientifiques – Communication poster
Integrated Omic Analyses of the Human Gut Microbiome in a Multiplex Family Study of Type 1 Diabetes Mellitus; ; ; ; ; ; ; ;
Poster (2014, April 30)
Community integrated omics links the dominance of a microbial generalist to fine-tuned resource usage; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
Poster (2014)
Systematic molecular measurements reveal key microbial populations driving community-wide phenotype; ; ; ; ; ; ; ; ; ; ; ;
Poster (2013)
Integrated omics highlights keystone genes in community-wide metabolic networks; ; ; ; ;
Poster (2013)
Integrated omics highlights keystone genes in community-wide metabolic networks; ; ; ; ;
Poster (2013)
Rapports de recherche externe
