Gusella, James F.

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families

Blumenthal, I., Ragavendran, A., Erdin, S., Klei, L., Sugathan, A., Guide, J. R., Manavalan, P., Zhou, J. Q., Wheeler, V. C., Levin, J. Z., et al. (2014) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 145

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

2p15 Consortium, Loviglio, M. N., 16p11.2 Consortium, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., et al. (2017) · Molecular Psychiatry

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 118

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Lamb, A. N., Rosenfeld, J. A., Neill, N. J., Talkowski, M. E., Blumenthal, I., Girirajan, S., Keelean-Fuller, D., Fan, Z., Pouncey, J., Stevens, C., et al. (2012) · Human Mutation

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 107

Role of common and rare APP DNA sequence variants in Alzheimer disease

Hooli, B. V., Mohapatra, G., Mattheisen, M., Parrado, A. R., Roehr, J. T., Shen, Y., Gusella, J. F., Moir, R., Saunders, A. J., Lange, C., et al. (2012) · Neurology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 87

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

Balasubramanian, R., Choi, J.-H., Francescatto, L., Willer, J., Horton, E. R., Asimacopoulos, E. P., Stankovic, K. M., Plummer, L., Buck, C. L., Quinton, R., et al. (2014) · Proceedings of the National Academy of Sciences

Hypothalamic control of reproductive hormonesCongenital Ear and Nasal Anomalies

Cited by 83

Copy Number Variation in Familial Parkinson Disease

Pankratz, N., Dumitriu, A., Hetrick, K. N., Sun, M., Latourelle, J. C., Wilk, J. B., Halter, C., Doheny, K. F., Gusella, J. F., Nichols, W. C., et al. (2011) · PLoS ONE

Parkinson's Disease Mechanisms and TreatmentsGenetic Associations and Epidemiology

Cited by 81

Apolipoprotein E4 allele and Alzheimer disease: Examination of Allelic association and effect on age at onset in both early‐and late‐onset cases

Locke, P. A., Conneally, P. M., Tanzi, R. E., Gusella, J. F., & Haines, J. L. (1995) · Genetic Epidemiology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 75

Autism Spectrum Disorder Genetics: Diverse Genes with Diverse Clinical Outcomes

Talkowski, M. E., Minikel, E. V., & Gusella, J. F. (2014) · Harvard Review of Psychiatry

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 72

Replication of association between ELAVL4 and Parkinson disease: the GenePD study

DeStefano, A. L., Latourelle, J., Lew, M. F., Suchowersky, O., Klein, C., Golbe, L. I., Mark, M. H., Growdon, J. H., Wooten, G. F., Watts, R., et al. (2008) · Human Genetics

Parkinson's Disease Mechanisms and TreatmentsGenetic Associations and Epidemiology

Cited by 40

WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4

Hennig, K. M., Fass, D. M., Zhao, W.-N., Sheridan, S. D., Fu, T., Erdin, S., Stortchevoi, A., Lucente, D., Cody, J. D., Sweetser, D., et al. (2017) · Complex Psychiatry

Genetics and Neurodevelopmental DisordersWnt/β-catenin signaling in development and cancer

Cited by 36

Huntington's Disease and Repeating Trinucleotides

Gusella, J. F., & MacDonald, M. E. (1994) · New England Journal of Medicine

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 25