Author details

Full Name

James F Gusella

Affiliation

ORCID

Career Start Year

1976

Papers

569

H Index

108

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37547003	<i>PMS1</i> as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington's disease.	bioRxiv	2023
36869767	Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.	Brain	2023
37043533	A Cdk5-derived peptide inhibits Cdk5/p25 activity and improves neurodegenerative phenotypes.	Proc Natl Acad Sci U S A	2023
35325614	Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.	American Journal of Human Genetics	2022
36152629	Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.	Am J Hum Genet	2022
35379994	Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.	Nature Neuroscience	2022
35688811	Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder.	Nat Commun	2022
35803234	Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration.	American Journal of Human Genetics	2022
34420978	A Multi-Omic Huntington's Disease Transgenic Sheep-Model Database for Investigating Disease Pathogenesis.	Journal of Huntington's disease	2021
34180418	Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington's Disease.	Journal of Huntington's disease	2021
34169318	Huntington's disease: nearly four decades of human molecular genetics.	Human Molecular Genetics	2021
33579862	Huntington's Disease Pathogenesis: Two Sequential Components.	Journal of Huntington's disease	2021
34006844	16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro.	Nat Commun	2021
34264955	Brigatinib causes tumor shrinkage in both NF2-deficient meningioma and schwannoma through inhibition of multiple tyrosine kinases but not ALK.	PLoS One	2021
33273014	mTOR kinase inhibition disrupts neuregulin 1-ERBB3 autocrine signaling and sensitizes NF2-deficient meningioma cellular models to IGF1R inhibition.	Journal of Biological Chemistry	2021
33402738	CNV profiles of Chinese pediatric patients with developmental disorders.	Genetics in Medicine	2021
33432339	Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.	Human Molecular Genetics	2021
34672987	Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.	Am J Hum Genet	2021
32503625	Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons.	Molecular Autism	2020
31628846	A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator.	J Clin Endocrinol Metab	2020
31980904	De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.	Human Genetics	2020
32087949	Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's Disease.	Biol Psychiatry	2020
32876667	Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out.	Human Molecular Genetics	2020
32589923	Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects.	American Journal of Human Genetics	2020
31296921	Full sequence of mutant huntingtin 3'-untranslated region and modulation of its gene regulatory activity by endogenous microRNA.	Journal of Human Genetics	2019
31503426	A rare case of acquired immunodeficiency associated with myelodysplastic syndrome.	Molecular genetics & genomic medicine	2019
30897080	Hypomorphic mutation of the mouse Huntington's disease gene orthologue.	PLoS Genet	2019
29384852	Pain correlates with germline mutation in schwannomatosis.	Medicine (United States)	2018
30122542	Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase.	American Journal of Human Genetics	2018
29982664	EPH receptor signaling as a novel therapeutic target in NF2-deficient meningioma.	Neuro Oncol	2018
29996106	Opposing Tumor-Promoting and -Suppressive Functions of Rictor/mTORC2 Signaling in Adult Glioma and Pediatric SHH Medulloblastoma.	Cell Rep	2018
29897904	Traditional and systems biology based drug discovery for the rare tumor syndrome neurofibromatosis type 2.	PLoS One	2018
30076746	A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family.	American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics	2018
29750799	Population-specific genetic modification of Huntington's disease in Venezuela.	PLoS Genet	2018
28120936	Potential molecular consequences of transgene integration: The R6/2 mouse example.	Scientific Reports	2017
28691782	A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.	American Journal of Medical Genetics, Part A	2017
28912154	Inhibition of p25/Cdk5 Attenuates Tauopathy in Mouse and iPSC Models of Frontotemporal Dementia.	J Neurosci	2017
28546579	Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.	Nat Genet	2017
28334820	High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds.	Hum Mol Genet	2017
28333167	A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.	Scientific Reports	2017
28934397	A modifier of Huntington's disease onset at the MLH1 locus.	Human Molecular Genetics	2017
28879201	WNT/Î²-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene .		2017
28832564	Haplotype-based stratification of Huntington's disease.	European Journal of Human Genetics	2017
29229845	Brain urea increase is an early Huntington's disease pathogenic event observed in a prodromal transgenic sheep model and HD cases.	Proceedings of the National Academy of Sciences of the United States of America	2017
27240531	Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.	Mol Psychiatry	2017
28257685	2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling.	American Journal of Human Genetics	2017
27759917	Implication of LRRC4C and DPP6 in neurodevelopmental disorders.	Am J Med Genet A	2017
28067909	SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.	Nat Genet	2017
27925688	Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation.	Hum Mutat	2017
27841880	The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.	Nat Genet	2017