Nicholas Katsanis

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2020
Publications (10 Years): 7

Top Topics

Preterm Infants

Amyotrophic Lateral Sclerosis

Intellectual Disability

Top Venues

Nature genetics

Journal of participatory medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Maria Kousi, Onuralp Söylemez, Aysegül Ozanturk, Niki Mourtzi, Sebastian Akle, Irwin Jungreis, Jean Muller, Christopher A Cassa, Harrison Brand, Jill Anne Rosenfeld, Maxim Y Wolf, Azita Sadeghpour, Kelsey McFadden, Richard A Lewis, Michael E Talkowski, Hélène Dollfus, Manolis Kellis, Erica E Davis, Shamil R Sunyaev, Nicholas Katsanis
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy. Nature genetics 52 (11) (2020)
Tanner O Monroe, Melanie E Garrett, Maria Kousi, Ramona M Rodriguiz, Sungjin Moon, Yushi Bai, Steven C Brodar, Karen L Soldano, Jeremiah Savage, Thomas F Hansen, Donna M Muzny, Richard A Gibbs, Lawrence Barak, Patrick F Sullivan, Allison Elizabeth Ashley-Koch, Akira Sawa, William C Wetsel, Thomas M Werge, Nicholas Katsanis
PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia. Nature communications 11 (1) (2020)
Rossella Spataro, Maria Kousi, Sali M K Farhan, Jason R Willer, Jay P Ross, Patrick A Dion, Guy A Rouleau, Mark J Daly, Benjamin M Neale, Vincenzo La Bella, Nicholas Katsanis
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion. Human genomics 13 (1) (2019)
Shuji Mizumoto, Andreas R Janecke, Azita Sadeghpour, Gundula Povysil, Marie T McDonald, Sheila Unger, Susanne Greber-Platzer, Kristen L Deak, Nicholas Katsanis, Andrea Superti-Furga, Kazuyuki Sugahara, Erica E Davis, Shuhei Yamada, Julia Vodopiutz
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age. Human mutation 41 (3) (2019)
Georgios Kellaris, Kamal Khan, Shahid M Baig, I-Chun Tsai, Francisca Millan Zamora, Paul Ruggieri, Marvin R Natowicz, Nicholas Katsanis
A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features. Human genomics 12 (1) (2018)
Sara Huston Katsanis, Mollie A Minear, Azita Sadeghpour, Heidi Cope, Yezmin Perilla, Robert M Cook-Deegan, null null, Nicholas Katsanis, Erica E Davis, Misha Angrist
Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions. Journal of participatory medicine 10 (1) (2018)
Benjamin M Helm, Jason R Willer, Azita Sadeghpour, Christelle Golzio, Eric Crouch, Samantha Schrier Vergano, Nicholas Katsanis, Erica E Davis
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome. Human genomics 11 (1) (2017)