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Publications by Nicholas Katsanis
Rare Variants in CFI, C3 and C9 Are Associated With High Risk of Advanced Age-Related Macular Degeneration
Nature Genetics
Genetics
Identification of Cis-Suppression of Human Disease Mutations by Comparative Genomics
Nature
Multidisciplinary
Nde1-Mediated Inhibition of Ciliogenesis Affects Cell Cycle Re-Entry
Nature Cell Biology
Cell Biology
ARMC4 Mutations Cause Primary Ciliary Dyskinesia With Randomization of Left/Right Body Asymmetry
American Journal of Human Genetics
Genetics
SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant
American Journal of Human Genetics
Genetics
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome
American Journal of Human Genetics
Genetics
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
American Journal of Human Genetics
Genetics
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias
American Journal of Human Genetics
Genetics
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome
American Journal of Human Genetics
Genetics
2017 Curt Stern Award: The Complexity of Simple Genetics 1
American Journal of Human Genetics
Genetics
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