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29,941 authors found
quering by "Compound heterozygosity"
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the first 25
sort by ONE Index.
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952
One Index
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Brunetti-Pierri, Nicola PhD 0000-0002-6895-8819 |
349 docs (1997 - 2024)
Gene Therapy , Inborn Errors of Metabolism , Microcephaly , Transduction (biophysics) , Editorial board |
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937
One Index
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Leyva Castillo, Juan Manuel PhD 0000-0001-7394-4457 |
326 docs (1973 - 2024)
Primary immunodeficiency , Wiskott–Aldrich syndrome protein , Common variable immunodeficiency , Interferon-? Pathway Defects , B Cell Abnormalities |
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934
One Index
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Antonarakis, Stylianos PhD 0000-0001-8907-5823 |
876 docs (1982 - 2024)
Trisomy , Genetic linkage , Factor VIII , Trisomy Detection , Chromosome 21 |
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929
One Index
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Stenton, Sarah Louise PhD 0000-0003-4071-449X |
46 docs (2018 - 2024)
Exome , Mitochondrial disease , Exome Sequencing , Mendelian inheritance , Inborn Errors of Metabolism |
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928
One Index
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Gleeson, Jo PhD 0000-0002-0889-9220 |
277 docs (1982 - 2024)
Microcephaly , Doublecortin , Joubert syndrome , Brain Development , Ciliopathy |
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925
One Index
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Kruer, Michael PhD 0000-0002-1373-7891 |
173 docs (2004 - 2024)
Microcephaly , Cerebral Palsy , Neurodegeneration , Movement disorders , Neurodevelopmental disorder |
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924
One Index
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de Baaij, Jeroen PhD 0000-0003-2372-8486 |
140 docs (2010 - 2024)
Hypomagnesemia , Magnesium , Distal convoluted tubule , Diabetes , Homeostasis |
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923
One Index
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Abou Tayoun, Ahmad PhD 0000-0002-9134-1673 |
163 docs (2009 - 2024)
Medical genetics , Exome Sequencing , Exome , Hearing Loss , Pathogenicity Prediction |
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922
One Index
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Chelban, Viorica PhD 0000-0002-5817-6290 |
63 docs (2016 - 2024)
Hereditary Spastic Paraplegia , Parkinsonism , Genome-wide association study , Synucleinopathies , Compound heterozygosity |
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922
One Index
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Butte, Manish PhD 0000-0002-4490-5595 |
252 docs (1994 - 2024)
Human Inborn Errors , Immunological synapse , Interferon-? Pathway Defects , Atomic Force Microscopy , Common variable immunodeficiency |
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917
One Index
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Chinnery, Patrick PhD 0000-0002-7065-6617 |
911 docs (1990 - 2024)
Mitochondrial disease , Mitochondrial Dysfunction , Mitochondria , Mitochondrial Function , Heteroplasmy |
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916
One Index
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Onoufriadis, Alexandros PhD 0000-0001-5026-0431 |
100 docs (2010 - 2024)
Primary Ciliary Dyskinesia , Motile cilium , Ciliogenesis , Genome-wide association study , Psoriasis |
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914
One Index
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Westerfield, Monte PhD 0000-0003-1187-7839 |
319 docs (1975 - 2024)
Model organism , Phenotype Ontology , Zebrafish , Gene Annotation , Danio |
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914
One Index
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Vinuesa, Carola PhD 0000-0001-9799-0298 |
182 docs (1986 - 2024)
Memory T Cells , T Cell Immunity , Affinity maturation , CXCR5 , Follicular dendritic cells |
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912
One Index
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Sergouniotis, Panos PhD 0000-0003-0986-4123 |
209 docs (2007 - 2024)
Photoreceptor Degeneration , Macular Degeneration , Mendelian inheritance , Proband , Electroretinography |
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909
One Index
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Campeau, Philippe PhD 0000-0001-9713-7107 |
289 docs (2000 - 2024)
Table (database) , Brain Development , Microcephaly , Neurodevelopmental disorder , Penetrance |
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909
One Index
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Elmonem, Mohamed PhD 0000-0002-3154-1948 |
78 docs (2013 - 2024)
Cystinosis , Cysteamine , Lysosomal storage disease , Cysteamine Therapy , Inborn Errors of Metabolism |
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908
One Index
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Estivill, Xavier PhD 0000-0002-0723-2256 |
860 docs (1983 - 2024)
Genome-wide association study , Cystic Fibrosis , Genetic association , Cancer Genomics , Anorexia nervosa |
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908
One Index
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Rodero, Mathieu PhD 0000-0002-1300-0187 |
145 docs (2006 - 2024)
CX3CR1 , CCR2 , Interferon Signaling , Pulmonary Hypertension , Monocyte |
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908
One Index
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Plagnol, Vincent PhD 0000-0002-5597-9215 |
311 docs (2003 - 2024)
Genome-wide association study , Genetic association , Exome , Liquid biopsy , Type 1 Diabetes |
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908
One Index
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Brendan John Frey PhD |
268 docs (1993 - 2023)
Alternative Splicing , Graphical model , Generative model , Gene Expression Regulation , Probabilistic Learning |
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907
One Index
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Maria Antoinette Fiatarone Singh PhD |
179 docs (1997 - 2024)
Exercise , Physical Activity , Aging , Exercise Capacity , High-Intensity Interval Training |
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907
One Index
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Cunningham-Rundles, Charlotte PhD 0000-0003-0725-0320 |
562 docs (1974 - 2024)
Common variable immunodeficiency , Primary immunodeficiency , Interferon-? Pathway Defects , B Cell Abnormalities , Hypogammaglobulinemia |
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907
One Index
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Nickerson, Deborah A PhD 0000-0002-9954-4897 |
648 docs (1976 - 2024)
Exome , Genome-wide association study , Genetic association , Exome Sequencing , Haplotype Mapping |
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906
One Index
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Ehl, Stephan PhD 0000-0002-9265-2721 |
495 docs (1985 - 2024)
Familial Hemophagocytic Lymphohistiocytosis , Hemophagocytic Lymphohistiocytosis , Primary immunodeficiency , B Cell Abnormalities , Human Inborn Errors |
