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Author's search
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Career Stage
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Female MaleCountry
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ONE Index Relevance Docs
40,000 authors found
quering by "Proband"
.
Showing
the first 25
sort by ONE Index.
952
One Index
|
Brunetti-Pierri, Nicola PhD 0000-0002-6895-8819 |
349 docs (1997 - 2024)
Gene Therapy , Inborn Errors of Metabolism , Microcephaly , Transduction (biophysics) , Editorial board |
949
One Index
|
Gymrek, Melissa PhD 0000-0002-6086-3903 |
109 docs (2009 - 2024)
sequence variation , genome annotation , Genome-wide association study , Genome-wide Association Studies , 1000 Genomes Project |
948
One Index
|
Walsh, Christopher PhD 0000-0002-0156-2238 |
565 docs (1983 - 2024)
Microcephaly , Brain Development , Cortical Development , Doublecortin , Neocortex |
948
One Index
|
Mayosi, Bongani PhD 0000-0001-6641-8950 |
496 docs (1989 - 2023)
Pericarditis , Tuberculous Pericarditis , Recurrent Pericarditis , Rheumatic Heart Disease , Constrictive Pericarditis |
945
One Index
|
Goldstein , David PhD 0000-0002-1111-2820 |
557 docs (1980 - 2024)
Genome-wide association study , Exome , Genetic association , Exome Sequencing , Variation (astronomy) |
942
One Index
|
Liston, Adrian PhD 0000-0002-6272-4085 |
337 docs (1989 - 2024)
Memory T Cells , Thymic Selection , Regulatory T cell , Homeostasis , Central tolerance |
937
One Index
|
Bejerano, Gill PhD 0000-0001-5179-3635 |
183 docs (1999 - 2024)
genome annotation , Pathogenicity Prediction , Mendelian inheritance , Candidate gene , Exome Sequencing |
937
One Index
|
Troyanskaya, Olga PhD 0000-0002-5676-5737 |
265 docs (1999 - 2024)
Gene Set Enrichment Analysis , Genomic Data Integration , Biological Network Integration , Functional genomics , Cell type |
935
One Index
|
Darbar, Dawood PhD 0000-0002-4103-5977 |
418 docs (1994 - 2024)
Atrial Fibrillation , Genome-wide association study , Arrhythmias , Atrial Flutter , Genetic association |
930
One Index
|
Whiffin, Nicola PhD 0000-0003-1554-6594 |
132 docs (2011 - 2024)
Cardiac Imaging , Genome-wide association study , Dilated Cardiomyopathy , Pathogenicity Prediction , Exome |
929
One Index
|
Stenton, Sarah Louise PhD 0000-0003-4071-449X |
46 docs (2018 - 2024)
Exome , Mitochondrial disease , Exome Sequencing , Mendelian inheritance , Inborn Errors of Metabolism |
929
One Index
|
Quinlan, Aaron PhD 0000-0003-1756-0859 |
220 docs (2007 - 2024)
genome annotation , sequence alignment , sequence variation , Exome Sequencing , MIT License |
929
One Index
|
Bellen, Hugo PhD 0000-0001-5992-5989 |
541 docs (1984 - 2024)
Loss function , Drosophila , Model organism , Brain Development , Microcephaly |
927
One Index
|
Beijer, Danique PhD 0000-0001-6593-7644 |
38 docs (2018 - 2024)
Neurofilament Mutations , Ataxia , Exome , Axonal Degeneration , Exome Sequencing |
927
One Index
|
Loscalzo, Joseph PhD 0000-0002-1153-8047 |
1047 docs (1960 - 2024)
Nitric Oxide , Hypertension , Pulmonary Hypertension , Endothelial dysfunction , Network Pharmacology |
926
One Index
|
O'Rahilly, Stephen PhD 0000-0003-2199-4449 |
698 docs (1983 - 2024)
Insulin Signaling , Lipodystrophy , Insulin Resistance , Leptin , Obesity |
926
One Index
|
Haugaa, Kristina PhD 0000-0002-4900-0453 |
521 docs (2005 - 2024)
Arrhythmogenic Right Ventricular Cardiomyopathy , Cardiac Imaging , Echocardiography , Left Ventricular Function , Cardiac Remodeling |
925
One Index
|
Merikangas, Kathkeen PhD 0000-0002-4667-2414 |
542 docs (1977 - 2025)
Depression (economics) , Proband , Migraine , Migraine Prevention , Depression |
924
One Index
|
Robinson, Elise PhD 0000-0003-2314-2792 |
157 docs (2003 - 2024)
Autism , Genome-wide association study , Genetic architecture , Genetics , Polygenic risk score |
924
One Index
|
Farooqi, Ismaa Sadaf PhD 0000-0001-7609-3504 |
398 docs (1991 - 2024)
Obesity , Leptin , Melanocortin 4 receptor , Metabolic Regulation , Melanocortin System |
924
One Index
|
Craddock, Nick PhD 0000-0003-2171-0610 |
556 docs (1989 - 2024)
Genome-wide association study , Genetic association , Depression (economics) , Polygenic Risk Scores , Bipolar Spectrum Disorder |
923
One Index
|
Abou Tayoun, Ahmad PhD 0000-0002-9134-1673 |
163 docs (2009 - 2024)
Medical genetics , Exome Sequencing , Exome , Hearing Loss , Pathogenicity Prediction |
923
One Index
|
Guerreiro, Rita PhD 0000-0001-5879-3486 |
353 docs (2004 - 2024)
Genome-wide association study , Genetic association , Neurodegeneration , TREM2 , Apolipoprotein E |
923
One Index
|
Sonuga-Barke, Edmund PhD 0000-0002-6996-3935 |
674 docs (1988 - 2024)
ADHD , Attention-Deficit/Hyperactivity Disorder , Parenting , Adolescent Brain Development , Treatment |
923
One Index
|
Priori, Silvia PhD 0000-0001-6877-0288 |
870 docs (1985 - 2024)
Long-QT Syndrome , Arrhythmias , Cardiac Channelopathies , Arrhythmogenic Right Ventricular Cardiomyopathy , Cardiac Electrophysiology |