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Author Details

Gianpiero L Cavalleri
School of Pharmacy and Biomolecular Sciences, Ireland FutureNeuro SFI Research Centre
2001
132
40
PMIDPaper TitleJournal TitlePublished Year
36608656The genetic history of Scandinavia from the Roman Iron Age to the present.Cell2023
37901413Updates in SJS/TEN: collaboration, innovation, and community.Front Med (Lausanne)2023
37422919Everolimus precision therapy for the GATOR1-related epilepsies: A case series.Eur J Neurol2023
37117635The Newfoundland and Labrador mosaic founder population descends from an Irish and British diaspora from 300 years ago.Commun Biol2023
36751956Differential diagnosis of familial adult myoclonic epilepsy.Epilepsia2023
34388852A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies.Neuropathol Appl Neurobiol2022
35679801The role of common genetic variation in presumed monogenic epilepsies.EBioMedicine2022
35696575Revealing the recent demographic history of Europe via haplotype sharing in the UK Biobank.Proc Natl Acad Sci U S A2022
36396431Germline mosaicism in a family with <i>MBD5</i> haploinsufficiency.Cold Spring Harb Mol Case Stud2022
36534060Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy.Ann Neurol2022
36182700The population genomic legacy of the second plague pandemic.Curr Biol2022
35896547Structural network alterations in focal and generalized epilepsy assessed in a worldwide ENIGMA study follow axes of epilepsy risk gene expression.Nat Commun2022
36126061Population history and genome wide association studies of birth weight in a native high altitude Ladakhi population.PLoS One2022
35099770The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project.J Nephrol2022
35333312Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy.Brain2022
35088532Whole exome sequencing studies in epilepsy: A deep analysis of the published literature.Am J Med Genet A2022
35298028A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam.Epilepsia2022
34483082Educating pharmacy students through a pandemic: Reflecting on our COVID-19 experience.Res Social Adm Pharm2022
34569149Genomic analysis of "microphenotypes" in epilepsy.Am J Med Genet A2022
33454723The genetic landscape of polycystic kidney disease in Ireland.Eur J Hum Genet2021
33863784A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (<i>RCAN1</i>) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS.J Am Soc Nephrol2021
34763988Corrigendum to 'SJS/TEN 2019: From science to translation' [J. Dermatol. Sci. 98/1 (2020) 2-12].J Dermatol Sci2021
34632383Epilepsy in the mTORopathies: opportunities for precision medicine.Brain Commun2021
34018700Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy.Ann Clin Transl Neurol2021
34184781Genome-Wide Association Study Identifies Risk Loci for Cluster Headache.Ann Neurol2021
34177598Role of Common Genetic Variants for Drug-Resistance to Specific Anti-Seizure Medications.Front Pharmacol2021
34288049Postictal Psychosis in Epilepsy: A Clinicogenetic Study.Ann Neurol2021
30705424Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.Mol Psychiatry2020
33655195The relationship between donor-recipient genetic distance and long-term kidney transplant outcome.HRB Open Res2020
31785486Exploring the genetic overlap between psychiatric illness and epilepsy: A review.Epilepsy Behav2020
31958169Renal transplant outcomes in patients with autosomal dominant tubulointerstitial kidney disease.Clin Transplant2020
31865346An Exome Sequencing Study of 10 Families with IgA Nephropathy.Nephron2020
31665216Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition.JAMA Psychiatry2020
31822006Utility of Genomic Testing after Renal Biopsy.Am J Nephrol2020
33208365Network-based atrophy modeling in the common epilepsies: A worldwide ENIGMA study.Sci Adv2020
32954071Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.Kidney Int Rep2020
32723786Diagnostic utility of genetic testing in patients undergoing renal biopsy.Cold Spring Harb Mol Case Stud2020
32308125Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study.Pharmacogenomics2020
32468614The ENIGMA-Epilepsy working group: Mapping disease from large data sets.Hum Brain Mapp2020
32238909A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.Eur J Hum Genet2020
32141622Testing association of rare genetic variants with resistance to three common antiseizure medications.Epilepsia2020
32400091Polygenic risk score of non-melanoma skin cancer predicts post-transplant skin cancer across multiple organ types.Clin Transplant2020
32192826SJS/TEN 2019: From science to translation.J Dermatol Sci2020
30711678De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years.Eur J Med Genet2020
30587513Normal cerebral cortical thickness in first-degree relatives of temporal lobe epilepsy patients.Neurology2019
31814998Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in <i>SCN1A</i>.NPJ Genom Med2019
31819912Genomic and clinical predictors of lacosamide response in refractory epilepsies.Epilepsia Open2019
30085400Polygenic risk score as a determinant of risk of non-melanoma skin cancer in a European-descent renal transplant cohort.Am J Transplant2019
31440723Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy.Epilepsia Open2019
31297800Development of a genomics module within an epilepsy-specific electronic health record: Toward genomic medicine in epilepsy care.Epilepsia2019
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Collaborators

Norman Delanty
FutureNeuro SFI Research Centre, The Royal College of Surgeons in Ireland
Co-authored papers 65
Sanjay M Sisodiya
UCL Institute of Neurology
Co-authored papers 47
Chantal Depondt
Hopital Universitaire de Bruxelles - Hopital Erasme
Co-authored papers 37
Colin P Doherty
St James's Hospital
Co-authored papers 26
David B Goldstein
Institute for Genomic Medicine, Columbia University Irving Medical Center
Co-authored papers 22
Josemir W Sander
West China Hospital of Sichuan University
Co-authored papers 17
Michael E Weale
Co-authored papers 16
Terence J O'Brien
Monash University
Co-authored papers 15
Paul M Thompson
University of Southern California
Co-authored papers 13
Michael R Johnson
Imperial College London
Co-authored papers 12
Roland Krause
University of Luxembourg
Co-authored papers 11
Nicholas W Wood
UCL Queen Square Institute of Neurology
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Reetta K??lvi??inen
Kuopio University Hospital, University of Eastern Finland
Co-authored papers 11
Massimo Pandolfo
Universite Libre de Bruxelles (ULB)
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Dalia Kasperaviciute
Genomics England Ltd.
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Neda Jahanshad
University of Southern California
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Mina Ryten
UCL Great Ormond Street Institute of Child Health, University College London
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Erin L Heinzen
University of North Carolina at Chapel Hill.
Co-authored papers 10
Kevin V Shianna
Illumina Inc. 5200 Illumina Way
Co-authored papers 10
Derek W Morris
Co-authored papers 9
Ingrid E Scheffer
Co-authored papers 8
Aiden Corvin
Co-authored papers 8
Thomas W M??hleisen
Institute of Neuroscience and Medicine (INM-1), Research Center Juelich
Co-authored papers 7
John S Duncan
UCL Queen Square Institute of Neurology, University College London
Co-authored papers 7
Nicholas G Martin
Co-authored papers 7
Jouke-Jan Hottenga
Co-authored papers 7
Ole A Andreassen
Oslo University Hospital & Institute of Clinical Medicine, University of Oslo
Co-authored papers 7
David C Glahn
Co-authored papers 7
Dorret I Boomsma
Co-authored papers 7
Vidar M Steen
University of Oslo, Oslo University Hospital
Co-authored papers 7
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