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Medrxiv : the Preprint Server for Health Sciences|April 20, 2026
Multiplex Portuguese Families as a Lens into rare mutations and the Shared Genetic Architecture of Schizophrenia, Mood Disorders, and Autism Spectrum DisordersCarlos N Pato, Michele T Pato, Jennifer Mulle, et al.
Journal of the National Cancer Institute|March 10, 2018
Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome SequencingMykyta Artomov, Alexander J Stratigos, Ivana Kim, et al.
Nature Neuroscience|November 27, 2019
Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variantsF Kyle Satterstrom, Raymond K Walters, Tarjinder Singh, et al.
Nature Genetics|June 27, 2017
The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disabilityTarjinder Singh, James T R Walters, Mandy Johnstone, et al.
Nature Neuroscience|January 15, 2020
Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutationsDaniel P Howrigan, Samuel A Rose, Kaitlin E Samocha, et al.
Nature Genetics|June 27, 2018
De novo variants in neurodevelopmental disorders with epilepsyHenrike O Heyne, Tarjinder Singh, Hannah Stamberger, et al.
Nature Communications|June 27, 2022
The 22q11.2 region regulates presynaptic gene-products linked to schizophreniaRalda Nehme, Olli Pietiläinen, Mykyta Artomov, et al.
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