Publications by authors named "Nathan Kopp"

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The spectrum of heart defects in the -related multiple congenital anomalies-intellectual disability syndrome.
Elise Pisan, Chiara De Luca, Francesco Brancati, Rossana Sanchez Russo, Dong Li, Nathan Kopp

Proc Natl Acad Sci U S A· March 2024

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Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization.
Nathan Kopp, Ina Amarillo, Julian Martinez-Agosto, Fabiola Quintero-Rivera

Am J Med Genet A· March 2021

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Functions of Gtf2i and Gtf2ird1 in the developing brain: transcription, DNA binding and long-term behavioral consequences.
Nathan D Kopp, Kayla R Nygaard, Yating Liu, Katherine B McCullough, Susan E Maloney

Hum Mol Genet· June 2020

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Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations.
Corina Anastasaki, Michelle L Wegscheid, Kelly Hartigan, Jason B Papke, Nathan D Kopp

Stem Cell Reports· April 2020

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Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models.
Nathan Kopp, Katherine McCullough, Susan E Maloney, Joseph D Dougherty

Hum Mol Genet· October 2019

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Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.
Nathan D Kopp, Phoebe C R Parrish, Michael Lugo, Joseph D Dougherty, Beth A Kozel

Mol Genet Genomic Med· September 2018

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The anatomical distribution of genetic associations.
Alan Wells, Nathan Kopp, Xiaoxiao Xu, David R O'Brien, Wei Yang

Nucleic Acids Res· December 2015

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Moving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disorders.
Nathan Kopp, Sharlee Climer, Joseph D Dougherty

Front Genet· October 2015

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