• 2290 Citations
  • 19 h-Index
20132019
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Personal profile

External positions

University of Minnesota-Twin Cities

University of Washington

Fingerprint Dive into the research topics where Holly Stessman is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 1 Similar Profiles
Autistic Disorder Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Neoplasm Drug Resistance Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Exome Medicine & Life Sciences
Multiple Myeloma Medicine & Life Sciences
Boronic Acids Medicine & Life Sciences

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Research Output 2013 2019

Histone 4 lysine 20 methylation: A case for neurodevelopmental disease

Wickramasekara, R. N. & Stessman, H. A. F., Mar 1 2019, In : Biology. 8, 1, 11.

Research output: Contribution to journalReview article

Open Access
Genetic Databases
Methylation
Histone Code
histones
methylation

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

CAUSES Study & Deciphering Developmental Disorders Study, Mar 7 2019, In : American journal of human genetics. 104, 3, p. 530-541 12 p.

Research output: Contribution to journalArticle

Gene Components
Histone Acetyltransferases
Autistic Disorder
Intellectual Disability
Genetic Association Studies
12 Citations (Scopus)

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

Coe, B. P., Stessman, H., Sulovari, A., Geisheker, M. R., Bakken, T. E., Lake, A. M., Dougherty, J. D., Lein, E. S., Hormozdiari, F., Bernier, R. A. & Eichler, E. E., Jan 1 2019, In : Nature genetics. 51, 1, p. 106-116 11 p.

Research output: Contribution to journalArticle

Morbidity
Mutation
Genes
Chromosome Duplication
Exome

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

Cheng, H., Gottlieb, L., Marchi, E., Kleyner, R., Bhardwaj, P., Rope, A. F., Rosenheck, S., Moutton, S., Philippe, C., Eyaid, W., Alkuraya, F. S., Toribio, J., Mena, R., Prada, C. E., Stessman, H., Bernier, R., Wermuth, M., Kauffmann, B., Blaumeiser, B., Kooy, R. F. & 9 others, Baralle, D., Mancini, G. M. S., Conway, S. J., Xia, F., Chen, Z., Meng, L., Mihajlovic, L., Marmorstein, R. & Lyon, G. J., Sep 1 2019, In : Human Molecular Genetics. 28, 17, p. 2900-2919 20 p.

Research output: Contribution to journalArticle

N-Terminal Acetyltransferase A
Cohort Studies
Translational Protein Modification
Microphthalmos
Exome
18 Citations (Scopus)

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

ADNP Consortium, Jan 1 2018, (Accepted/In press) In : Biological Psychiatry.

Research output: Contribution to journalArticle

Mutation
Autistic Disorder
Intellectual Disability
Genetic Association Studies
Parents