| 1 |
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
European Alzheimer's Disease Initiative (EADI) et al. · Nature Genetics
ReviewOpen access184 authors |
27 Oct 2013 |
4,711 |
| 2 |
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
Brian W. Kunkle et al. · Nature Genetics
ReviewOpen access469 authors |
28 Feb 2019 |
3,277 |
| 3 |
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
the European Alzheimer's Disease Initiative Investigators et al. · Nature Genetics
Open access |
6 Sep 2009 |
2,292 |
| 4 |
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
the Alzheimer's Disease Neuroimaging Initiative et al. · Nature Genetics
Open access173 authors |
3 Apr 2011 |
2,100 |
| 5 |
Ancient human genomes suggest three ancestral populations for present-day Europeans
Iosif Lazaridis et al. · Nature
Open access120 authors |
Sep 2014 |
1,497 |
| 6 |
Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease
Valentina Escott‐Price et al. · PLoS ONE
Open access188 authors |
12 Jun 2014 |
1,408 |
| 7 |
National Sleep Foundation's sleep quality recommendations: first report
Maurice Moyses Ohayon, Emerson M. Wickwire, Max Hirshkowitz et al. · Sleep Health
Open access |
23 Dec 2016 |
1,328 |
| 8 |
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
Rebecca C. Sims et al. · Nature Genetics
Open access450 authors |
17 Jul 2017 |
1,122 |
| 9 |
Tracing European Founder Lineages in the Near Eastern mtDNA Pool
Martin B Richards et al. · The American Journal of Human Genetics
Open access |
Nov 2000 |
927 |
| 10 |
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
Heather C. Mefford et al. · New England Journal of Medicine
Open access |
10 Sep 2008 |
816 |
| 11 |
Skin test concentrations for systemically administered drugs – an ENDA / EAACI Drug Allergy Interest Group position paper
Knut Brockow et al. · Allergy
Open access |
25 Apr 2013 |
812 |
| 12 |
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Bradley P. Coe et al. · Nature Genetics
Open access |
14 Sep 2014 |
780 |
| 13 |
APOE and Alzheimer disease: a major gene with semi-dominant inheritance
Emmanuelle Génin et al. · Molecular Psychiatry
Open access |
10 May 2011 |
722 |
| 14 |
General considerations for skin test procedures in the diagnosis of drug hypersensitivity
Knut Brockow, Antonino G. Romano, M. Blanca et al. · Allergy
|
2002 |
706 |
| 15 |
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Santhosh Girirajan et al. · Nature Genetics
Open access |
14 Feb 2010 |
679 |
| 16 |
Practical guide to skin prick tests in allergy to aeroallergens
Jean Bousquet et al. · Allergy
Open access |
4 Nov 2011 |
651 |
| 17 |
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome
Deborah J. Marsh et al. · Human Molecular Genetics
|
Aug 1999 |
617 |
| 18 |
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
Andrew J. Sharp et al. · Nature Genetics
Open access |
17 Feb 2008 |
595 |
| 19 |
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Holly A.F. Stessman et al. · Nature Genetics
Open access |
13 Feb 2017 |
591 |
| 20 |
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
Ingo Helbig et al. · Nature Genetics
Open access |
11 Jan 2009 |
560 |
| 21 |
IgE allergy diagnostics and other relevant tests in allergy, a World Allergy Organization position paper
Ignacio Javier Ansotegui et al. · World Allergy Organization Journal
Open access |
Feb 2020 |
558 |
| 22 |
Classification and practical approach to the diagnosis and management of hypersensitivity to nonsteroidal anti‐inflammatory drugs
Marek Leszek Kowalski, Riccardo Asero, Sevim Bavbek et al. · Allergy
Open access |
Oct 2013 |
500 |
| 23 |
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
David A. Koolen, Lisenka E.L.M. Vissers, Rolph Pfundt et al. · Nature Genetics
|
13 Aug 2006 |
476 |
| 24 |
The official World Association of Sleep Medicine (WASM) standards for recording and scoring periodic leg movements in sleep (PLMS) and wakefulness (PLMW) developed in collaboration with a task force from the International Restless Legs Syndrome Study Group (IRLSSG)
Marco Zucconi, Raffaele Ferri, Richard P. Allen et al. · Sleep Medicine
Open access |
4 Feb 2006 |
455 |
| 25 |
Role of Omega-3 Fatty Acids in the Treatment of Depressive Disorders: A Comprehensive Meta-Analysis of Randomized Clinical Trials
Giuseppe Grosso, Andrzej Pająk, Stefano Marventano et al. · PLoS ONE
ReviewOpen access |
7 May 2014 |
451 |
| 26 |
Cyclic alternating pattern (CAP): The marker of sleep instability
Liborio Parrino, Raffaele Ferri, Oliviero Bruni et al. · Sleep Medicine Reviews
|
7 Jun 2011 |
449 |
| 27 |
Leukocytosis as a major thrombotic risk factor in patients with polycythemia vera
Raffaele Landolfi, Leonardo Di Gennaro, Tiziano Barbui et al. · Blood
Open access |
14 Nov 2006 |
419 |
| 28 |
A genetic variant that disrupts MET transcription is associated with autism
Jerry L. Campbell, James S. Sutcliffe, Philip J. Ebert et al. · Proceedings of the National Academy of Sciences
Open access |
19 Oct 2006 |
410 |
| 29 |
Summary of recommendations for the management of infantile seizures: Task F orce R eport for the ILAE C ommission of P ediatrics
Jo M. Wilmshurst, William Davis Gaillard, Kollencheri Puthenveettil Vinayan et al. · Epilepsia
Open access |
30 Jun 2015 |
403 |
| 30 |
Individual analysis of EEG frequency and band power in mild Alzheimer's disease
Davide Vito Moretti, Claudio Babiloni, Giuliano Binetti et al. · Clinical Neurophysiology
Open access |
12 Dec 2003 |
397 |
| 31 |
Update on the evaluation of hypersensitivity reactions to betalactams
M. Blanca, Antonino G. Romano, Marı́a José Torres et al. · Allergy
Open access |
21 Jan 2009 |
385 |
| 32 |
Prevalence of Sleep Disturbances in Mild Cognitive Impairment and Dementing Disorders: A Multicenter Italian Clinical Cross-Sectional Study on 431 Patients
Biancamaria Guarnieri et al. · Dementia and Geriatric Cognitive Disorders
Open access |
2012 |
384 |
| 33 |
General considerations on rapid desensitization for drug hypersensitivity – a consensus statement
J. R. Cernadas, Knut Brockow, Antonino G. Romano et al. · Allergy
|
17 Aug 2010 |
376 |
| 34 |
A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype
Per Guldberg, Françoise Rey, Johannes Zschocke et al. · The American Journal of Human Genetics
Open access |
Jul 1998 |
362 |
| 35 |
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients
Manuela De Gregori et al. · Journal of Medical Genetics
Open access |
31 Aug 2007 |
359 |
| 36 |
A Path Toward Precision Medicine for Neuroinflammatory Mechanisms in Alzheimer's Disease
Harald Juergen Hampel et al. · Frontiers in Immunology
Open access |
31 Mar 2020 |
356 |
| 37 |
Association between diet and sleep quality: A systematic review
Justyna Godos, Giuseppe Grosso, Sabrina Castellano et al. · Sleep Medicine Reviews
Review |
18 Jan 2021 |
355 |
| 38 |
Omega-3 Fatty Acids and Depression: Scientific Evidence and Biological Mechanisms
Giuseppe Grosso, Fabio Galvano, Stefano Marventano et al. · Oxidative Medicine and Cellular Longevity
Open access |
2014 |
352 |
| 39 |
Sleep disorders and cancer: State of the art and future perspectives
Maria Paola Mogavero, Lourdes M. DelRosso, Francesco Fanfulla et al. · Sleep Medicine Reviews
|
28 Nov 2020 |
347 |
| 40 |
Diagnosis of nonimmediate reactions to β‐lactam antibiotics
Antonino G. Romano, M. Blanca, Marı́a José Torres et al. · Allergy
|
Oct 2004 |
347 |
| 41 |
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
Lot Snijders Blok et al. · The American Journal of Human Genetics
Open access |
30 Jul 2015 |
345 |
| 42 |
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes
Santhosh Girirajan, Zoran Brkanac, Bradley P. Coe et al. · PLoS Genetics
Open access |
10 Nov 2011 |
342 |
| 43 |
Skin testing in patients with hypersensitivity reactions to iodinated contrast media – a European multicenter study
Knut Brockow, Antonino G. Romano, Werner Aberer et al. · Allergy
Open access |
13 Jan 2009 |
336 |
| 44 |
Sources of cortical rhythms in adults during physiological aging: A multicentric EEG study
Claudio Babiloni, Giuliano Gb. Binetti, Andrea Cassarino et al. · Human Brain Mapping
Open access |
17 Aug 2005 |
333 |
| 45 |
Association of early-onset Alzheimer's disease with an interleukin-1? gene polymorphism
Luigi M. E. Grimaldi, Valeria M. Casadei, Cinzia Ferri et al. · Annals of Neurology
|
Mar 2000 |
333 |
| 46 |
Mutations in NHLRC1 cause progressive myoclonus epilepsy
Elayne M. Chan, Edwin J. Young, Leonarda Ianzano et al. · Nature Genetics
|
5 Sep 2003 |
331 |
| 47 |
Natural evolution of skin test sensitivity in patients allergic to β-lactam antibiotics
Miguel Blanca, Marı́a José Torres, J.J. Garcı́a et al. · Journal of Allergy and Clinical Immunology
Open access |
May 1999 |
319 |
| 48 |
Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation
Agatino Battaglia, H. Eugene Hoyme, Bruno Dallapiccola et al. · PEDIATRICS
|
Feb 2008 |
313 |
| 49 |
Audiogenic Seizures Susceptibility in Transgenic Mice with Fragile X Syndrome
Sebastiano Antonino Musumeci, Paolo Bosco, Giuseppe Calabrese et al. · Epilepsia
|
Dec 2000 |
300 |
| 50 |
Management of hypersensitivity reactions to iodinated contrast media
Knut Brockow, C. Christiansen, G. Kanny et al. · Allergy
|
11 Jan 2005 |
299 |