Nicholas Katsanis

7PUBLICATIONS
21CO-AUTHORS
Cellular nervous systemGene expression (incl. microarray and other genome-wide approaches)Genome structure and regulationStructure and dynamics of materialsNeurology and neuromuscular diseases
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Publications (7)

|Nov 20, 2020
PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia.

Tanner O Monroe, Melanie E Garrett, Maria Kousi

|Oct 14, 2020
Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions.

Sara Huston Katsanis, Mollie A Minear, Azita Sadeghpour

|Oct 13, 2020
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy.

Maria Kousi, Onuralp Söylemez, Aysegül Ozanturk

|Nov 10, 2019
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.

Shuji Mizumoto, Andreas R Janecke, Azita Sadeghpour

|Apr 18, 2019
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.

Rossella Spataro, Maria Kousi, Sali M K Farhan

|Mar 02, 2018
A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.

Georgios Kellaris, Kamal Khan, Shahid M Baig

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Frequent Collaborators

4 joint publications

Erica E Davis

1 joint publications

Andreas R Janecke

1 joint publications

Julia Vodopiutz

1 joint publications

Irwin Jungreis