Nathan Kopp, PhD

Publications

• Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization.

  (Kopp N, Amarillo I, Martinez-Agosto J, Quintero-Rivera F.) Am J Med Genet A. 2021 Mar;185(3):894-900 PMID: 33369065 12/29/2020

• Functions of Gtf2i and Gtf2ird1 in the developing brain: transcription, DNA binding and long-term behavioral consequences.

  (Kopp ND, Nygaard KR, Liu Y, McCullough KB, Maloney SE, Gabel HW, Dougherty JD.) Hum Mol Genet. 2020 Jun 03;29(9):1498-1519 PMID: 32313931 PMCID: PMC7526791 04/22/2020

• Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations.

  (Anastasaki C, Wegscheid ML, Hartigan K, Papke JB, Kopp ND, Chen J, Cobb O, Dougherty JD, Gutmann DH.) Stem Cell Reports. 2020 Apr 14;14(4):541-550 PMID: 32243842 PMCID: PMC7160375 04/04/2020

• Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models.

  (Kopp N, McCullough K, Maloney SE, Dougherty JD.) Hum Mol Genet. 2019 Oct 15;28(20):3443-3465 PMID: 31418010 PMCID: PMC7343053 08/17/2019

• Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

  (Kopp ND, Parrish PCR, Lugo M, Dougherty JD, Kozel BA.) Mol Genet Genomic Med. 2018 Sep;6(5):749-765 PMID: 30008175 PMCID: PMC6160704 07/17/2018

• The anatomical distribution of genetic associations.

  (Wells A, Kopp N, Xu X, O'Brien DR, Yang W, Nehorai A, Adair-Kirk TL, Kopan R, Dougherty JD.) Nucleic Acids Res. 2015 Dec 15;43(22):10804-20 PMID: 26586807 PMCID: PMC4678833 11/21/2015

• Moving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disorders.

  (Kopp N, Climer S, Dougherty JD.) Front Genet. 2015;6:301 PMID: 26500678 PMCID: PMC4595802 10/27/2015