Gusella, James F.

Association of apolipoprotein E allele ϵ4 with late‐onset familial and sporadic Alzheimer's disease

Saunders, A. M., Strittmatter, W. J., Schmechel, D., St. George-Hyslop, P. H., Pericak-Vance, M. A., Joo, S. H., Rosi, B. L., Gusella, J. F., Crapper-MacLachlan, D. R., Alberts, M. J., et al. (1993) · Neurology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 3,786

The GPR54 Gene as a Regulator of Puberty

Seminara, S. B., Messager, S., Chatzidaki, E. E., Thresher, R. R., Acierno, J. S., Shagoury, J. K., Bo-Abbas, Y., Kuohung, W., Schwinof, K. M., Hendrick, A. G., et al. (2003) · New England Journal of Medicine

Hypothalamic control of reproductive hormonesSexual Differentiation and Disorders

Cited by 2,557

Association between Microdeletion and Microduplication at 16p11.2 and Autism

Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 1,666

Huntington disease

Bates, G. P., Dorsey, R., Gusella, J. F., Hayden, M. R., Kay, C., Leavitt, B. R., Nance, M., Ross, C. A., Scahill, R. I., Wetzel, R., et al. (2015) · Nature Reviews Disease Primers

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 1,641

Amyloid β Protein Gene: cDNA, mRNA Distribution, and Genetic Linkage Near the Alzheimer Locus

Tanzi, R. E., Gusella, J. F., Watkins, P. C., Bruns, G. A. P., St George-Hyslop, P., Van Keuren, M. L., Patterson, D., Pagan, S., Kurnit, D. M., & Neve, R. L. (1987) · Science

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 1,611

Rapid induction of Alzheimer A beta amyloid formation by zinc

Bush, A., Pettingell, W., Multhaup, G., d Paradis, M., Vonsattel, J., Gusella, J., Beyreuther, K., Masters, C., & Tanzi, R. (1994) · Science

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 1,522

Trinucleotide repeat length instability and age of onset in Huntington's disease

Duyao, M., Ambrose, C., Myers, R., Novelletto, A., Persichetti, F., Frontali, M., Folstein, S., Ross, C., Franz, M., Abbott, M., et al. (1993) · Nature Genetics

Genetic Neurodegenerative DiseasesGenetic factors in colorectal cancer

Cited by 1,089

Inactivation of the Mouse Huntington's Disease Gene Homolog Hdh

Duyao, M. P., Auerbach, A. B., Ryan, A., Persichetti, F., Barnes, G. T., McNeil, S. M., Ge, P., Vonsattel, J.-P., Gusella, J. F., Joyner, A. L., et al. (1995) · Science

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 723

Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease

Lee, J.-M., Wheeler, V. C., Chao, M. J., Vonsattel, J. P. G., Pinto, R. M., Lucente, D., Abu-Elneel, K., Ramos, E. M., Mysore, J. S., Gillis, T., et al. (2015) · Cell

Genetic Neurodegenerative DiseasesGenetic factors in colorectal cancer

Cited by 655

Disruption of neurexin 1 associated with autism spectrum disorder

Kim, H.-G., Kishikawa, S., Higgins, A. W., Seong, I.-S., Donovan, D. J., Shen, Y., Lally, E., Weiss, L. A., Najm, J., Kutsche, K., et al. (2008) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 578

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Talkowski, M. E., Rosenfeld, J. A., Blumenthal, I., Pillalamarri, V., Chiang, C., Heilbut, A., Ernst, C., Hanscom, C., Rossin, E., Lindgren, A. M., et al. (2012) · Cell

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 577

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 462

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Miller, D. T., Shen, Y., Weiss, L. A., Korn, J., Anselm, I., Bridgemohan, C., Cox, G. F., Dickinson, H., Gentile, J., Harris, D. J., et al. (2009) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 427

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Golzio, C., Willer, J., Talkowski, M. E., Oh, E. C., Taniguchi, Y., Jacquemont, S., Reymond, A., Sun, M., Sawa, A., Gusella, J. F., et al. (2012) · Nature

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 410

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

Shen, Y., Dies, K. A., Holm, I. A., Bridgemohan, C., Sobeih, M. M., Caronna, E. B., Miller, K. J., Frazier, J. A., Silverstein, I., Picker, J., et al. (2010) · Pediatrics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 394

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

Sugathan, A., Biagioli, M., Golzio, C., Erdin, S., Blumenthal, I., Manavalan, P., Ragavendran, A., Brand, H., Lucente, D., Miles, J., et al. (2014) · Proceedings of the National Academy of Sciences

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 342

Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

Kim, H.-G., Kurth, I., Lan, F., Meliciani, I., Wenzel, W., Eom, S. H., Kang, G. B., Rosenberger, G., Tekin, M., Ozata, M., et al. (2008) · The American Journal of Human Genetics

Congenital Ear and Nasal AnomaliesHypothalamic control of reproductive hormones

Cited by 338

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Redin, C., Brand, H., Collins, R. L., Kammin, T., Mitchell, E., Hodge, J. C., Hanscom, C., Pillalamarri, V., Seabra, C. M., Abbott, M.-A., et al. (2017) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 334

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W. M., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., et al. (2011) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 249

Developmental alterations in Huntington’s disease neural cells and pharmacological rescue in cells and mice

The HD iPSC Consortium, Lim, R. G., Salazar, L. L., Wilton, D. K., King, A. R., Stocksdale, J. T., Sharifabad, D., Lau, A. L., Stevens, B., Reidling, J. C., et al. (2017) · Nature Neuroscience

Genetic Neurodegenerative DiseasesPluripotent Stem Cells Research

Cited by 221

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

Kim, H.-G., Ahn, J.-W., Kurth, I., Ullmann, R., Kim, H.-T., Kulharya, A., Ha, K.-S., Itokawa, Y., Meliciani, I., Wenzel, W., et al. (2010) · The American Journal of Human Genetics

Hypothalamic control of reproductive hormonesGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 195

Apolipoprotein E, survival in Alzheimer's disease patients, and the competing risks of death and Alzheimer's disease

Corder, E. H., Saunders, A. M., Strittmatter, W. J., Schmechel, D. E., Gaskell, P. C., Rimmler, J. B., Locke, P. A., Conneally, P. M., Schmader, K. E., Tanzi, R. E., et al. (1995) · Neurology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 169

Serial Changes of Cerebral Glucose Metabolism and Caudate Size in Persons at Risk for Huntington's Disease

Grafton, S. T., Mazziotta, J. C., Pahl, J. J., George-Hyslop, P. S., Haines, J. L., Gusella, J., Hoffman, J. M., Baxter, L. R., & Phelps, M. E. (1992) · Archives of Neurology

Genetic Neurodegenerative DiseasesNeurological and metabolic disorders

Cited by 157

miR-10b-5p expression in Huntington’s disease brain relates to age of onset and the extent of striatal involvement

Hoss, A. G., Labadorf, A., Latourelle, J. C., Kartha, V. K., Hadzi, T. C., Gusella, J. F., MacDonald, M. E., Chen, J.-F., Akbarian, S., Weng, Z., et al. (2015) · BMC Medical Genomics

Genetic Neurodegenerative DiseasesMicroRNA in disease regulation

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