• 1945 Citations
  • 18 h-Index
20132019
If you made any changes in Pure, your changes will be visible here soon.

Research Output 2013 2019

Filter
Article
2019

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

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
2018
12 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
5 Citations (Scopus)

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Cheng, H., Dharmadhikari, A. V., Varland, S., Ma, N., Domingo, D., Kleyner, R., Rope, A. F., Yoon, M., Stray-Pedersen, A., Posey, J. E., Crews, S. R., Eldomery, M. K., Akdemir, Z. C., Lewis, A. M., Sutton, V. R., Rosenfeld, J. A., Conboy, E., Agre, K., Xia, F., Walkiewicz, M. & 52 othersLongoni, M., High, F. A., van Slegtenhorst, M. A., Mancini, G. M. S., Finnila, C. R., van Haeringen, A., den Hollander, N., Ruivenkamp, C., Naidu, S., Mahida, S., Palmer, E. E., Murray, L., Lim, D., Jayakar, P., Parker, M. J., Giusto, S., Stracuzzi, E., Romano, C., Beighley, J. S., Bernier, R. A., Küry, S., Nizon, M., Corbett, M. A., Shaw, M., Gardner, A., Barnett, C., Armstrong, R., Kassahn, K. S., Van Dijck, A., Vandeweyer, G., Kleefstra, T., Schieving, J., Jongmans, M. J., de Vries, B. B. A., Pfundt, R., Kerr, B., Rojas, S. K., Boycott, K. M., Person, R., Willaert, R., Eichler, E. E., Kooy, R. F., Yang, Y., Wu, J. C., Lupski, J. R., Arnesen, T., Cooper, G. M., Chung, W. K., Gecz, J., Stessman, H., Meng, L. & Lyon, G. J., May 3 2018, In : American Journal of Human Genetics. 102, 5, p. 985-994 10 p.

Research output: Contribution to journalArticle

N-Terminal Acetyltransferase A
Intellectual Disability
Genes
Acetylation
Translational Protein Modification
2017
18 Citations (Scopus)

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., Bacino, C. A., Sanders, S. J., Lehmann, A., Latypova, X., Khan, K., Pacault, M., Sacharow, S., Glaser, K., Bieth, E., Perrin-Sabourin, L., Jacquemont, M. L., Cho, M. T., Roeder, E., Denommé-Pichon, A. S. & 40 othersMonaghan, K. G., Yuan, B., Xia, F., Simon, S., Bonneau, D., Parent, P., Gilbert-Dussardier, B., Odent, S., Toutain, A., Pasquier, L., Barbouth, D., Shaw, C. A., Patel, A., Smith, J. L., Bi, W., Schmitt, S., Deb, W., Nizon, M., Mercier, S., Vincent, M., Rooryck, C., Malan, V., Briceño, I., Gómez, A., Nugent, K. M., Gibson, J. B., Cogné, B., Lupski, J. R., Stessman, H., Eichler, E. E., Retterer, K., Yang, Y., Redon, R., Katsanis, N., Rosenfeld, J. A., Kloetzel, P. M., Golzio, C., Bézieau, S., Stankiewicz, P. & Isidor, B., Feb 2 2017, In : American Journal of Human Genetics. 100, 2, p. 352-363 12 p.

Research output: Contribution to journalArticle

Proteasome Endopeptidase Complex
Ubiquitin
Clustered Regularly Interspaced Short Palindromic Repeats
Ubiquitinated Proteins
Biological Phenomena
15 Citations (Scopus)

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

GEM HUGO, Deciphering Developmental Disorders Study & Undiagnosed Diseases Network, Nov 2 2017, In : American Journal of Human Genetics. 101, 5, p. 768-788 21 p.

Research output: Contribution to journalArticle

Intellectual Disability
Protein Kinases
Phosphorylation
Calcium-Calmodulin-Dependent Protein Kinase Type 2
Mutation
4 Citations (Scopus)

Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism

Hudac, C. M., Stessman, H., DesChamps, T. D., Kresse, A., Faja, S., Neuhaus, E., Webb, S. J., Eichler, E. E. & Bernier, R. A., Jan 1 2017, In : Journal of Neurodevelopmental Disorders. 9, 1, 24.

Research output: Contribution to journalArticle

Autistic Disorder
Mutation
Genes
Embryonic Development
Cognition
24 Citations (Scopus)

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

Geisheker, M. R., Heymann, G., Wang, T., Coe, B. P., Turner, T. N., Stessman, H., Hoekzema, K., Kvarnung, M., Shaw, M., Friend, K., Liebelt, J., Barnett, C., Thompson, E. M., Haan, E., Guo, H., Anderlid, B. M., Nordgren, A., Lindstrand, A., Vandeweyer, G., Alberti, A. & 20 othersAvola, E., Vinci, M., Giusto, S., Pramparo, T., Pierce, K., Nalabolu, S., Michaelson, J. J., Sedlacek, Z., Santen, G. W. E., Peeters, H., Hakonarson, H., Courchesne, E., Romano, C., Kooy, R. F., Bernier, R. A., Nordenskjöld, M., Gecz, J., Xia, K., Zweifel, L. S. & Eichler, E. E., Aug 1 2017, In : Nature Neuroscience. 20, 8, p. 1043-1051 9 p.

Research output: Contribution to journalArticle

Missense Mutation
Genes
Glutamate Receptors
Autistic Disorder
Mutation
37 Citations (Scopus)

NAR Breakthrough Article denovo-db: A compendium of human de novo variants

Turner, T. N., Yi, Q., Krumm, N., Huddleston, J., Hoekzema, K., Stessman, H., Doebley, A. L., Bernier, R. A., Nickerson, D. A. & Eichler, E. E., Jan 1 2017, In : Nucleic Acids Research. 45, D1, p. D804-D811

Research output: Contribution to journalArticle

Databases
Exome
Phenotype
Heart Diseases
Chromosomes
84 Citations (Scopus)

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Stessman, H., Xiong, B., Coe, B. P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., Vives, L., Lin, J., Turner, T. N., Santen, G., Ruivenkamp, C., Kriek, M., Van Haeringen, A., Aten, E., Friend, K., Liebelt, J. & 33 othersBarnett, C., Haan, E., Shaw, M., Gecz, J., Anderlid, B. M., Nordgren, A., Lindstrand, A., Schwartz, C., Kooy, R. F., Vandeweyer, G., Helsmoortel, C., Romano, C., Alberti, A., Vinci, M., Avola, E., Giusto, S., Courchesne, E., Pramparo, T., Pierce, K., Nalabolu, S., Amaral, D. G., Scheffer, I. E., Delatycki, M. B., Lockhart, P. J., Hormozdiari, F., Harich, B., Castells-Nobau, A., Xia, K., Peeters, H., Nordenskjöld, M., Schenck, A., Bernier, R. A. & Eichler, E. E., Mar 30 2017, In : Nature Genetics. 49, 4, p. 515-526 12 p.

Research output: Contribution to journalArticle

Developmental Disabilities
Autistic Disorder
Genes
Mutation
Intellectual Disability
23 Citations (Scopus)

The evolution and population diversity of human-specific segmental duplications

Dennis, M. Y., Harshman, L., Nelson, B. J., Penn, O., Cantsilieris, S., Huddleston, J., Antonacci, F., Penewit, K., Denman, L., Raja, A., Baker, C., Mark, K., Malig, M., Janke, N., Espinoza, C., Stessman, H., Nuttle, X., Hoekzema, K., Lindsay-Graves, T. A., Wilson, R. K. & 1 othersEichler, E. E., Feb 17 2017, In : Nature Ecology and Evolution. 1, 3, 0069.

Research output: Contribution to journalArticle

gene
genomics
genes
human evolution
hominid
2016
53 Citations (Scopus)

De novo genic mutations among a Chinese autism spectrum disorder cohort

Wang, T., Guo, H., Xiong, B., Stessman, H., Wu, H., Coe, B. P., Turner, T. N., Liu, Y., Zhao, W., Hoekzema, K., Vives, L., Xia, L., Tang, M., Ou, J., Chen, B., Shen, Y., Xun, G., Long, M., Lin, J., Kronenberg, Z. N. & 9 othersPeng, Y., Bai, T., Li, H., Ke, X., Hu, Z., Zhao, J., Zou, X., Xia, K. & Eichler, E. E., Nov 8 2016, In : Nature Communications. 7, 13316.

Research output: Contribution to journalArticle

mutations
genes
Genes
disorders
Mutation
29 Citations (Scopus)

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Stessman, H., Willemsen, M. H., Fenckova, M., Penn, O., Hoischen, A., Xiong, B., Wang, T., Hoekzema, K., Vives, L., Vogel, I., Brunner, H. G., Van Der Burgt, I., Ockeloen, C. W., Schuurs-Hoeijmakers, J. H., Klein Wassink-Ruiter, J. S., Stumpel, C., Stevens, S. J. C., Vles, H. S., Marcelis, C. M., Van Bokhoven, H. & 31 othersCantagrel, V., Colleaux, L., Nicouleau, M., Lyonnet, S., Bernier, R. A., Gerdts, J., Coe, B. P., Romano, C., Alberti, A., Grillo, L., Scuderi, C., Nordenskjöld, M., Kvarnung, M., Guo, H., Xia, K., Piton, A., Gerard, B., Genevieve, D., Delobel, B., Lehalle, D., Perrin, L., Prieur, F., Thevenon, J., Gecz, J., Shaw, M., Pfundt, R., Keren, B., Jacquette, A., Schenck, A., Eichler, E. E. & Kleefstra, T., Mar 3 2016, In : American Journal of Human Genetics. 98, 3, p. 541-552 12 p.

Research output: Contribution to journalArticle

Intellectual Disability
Exome
Language Development Disorders
Mutation
Microcephaly
31 Citations (Scopus)

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

Nuttle, X., Giannuzzi, G., Duyzend, M. H., Schraiber, J. G., Narvaiza, I., Sudmant, P. H., Penn, O., Chiatante, G., Malig, M., Huddleston, J., Benner, C., Camponeschi, F., Ciofi-Baffoni, S., Stessman, H., Marchetto, M. C. N., Denman, L., Harshman, L., Baker, C., Raja, A., Penewit, K. & 10 othersJanke, N., Joyce Tang, W., Ventura, M., Banci, L., Antonacci, F., Akey, J. M., Amemiya, C. T., Gage, F. H., Reymond, A. & Eichler, E. E., Aug 3 2016, In : Nature. 536, 7615, p. 205-209 5 p.

Research output: Contribution to journalArticle

Chromosomes
Genes
Hominidae
Genomic Segmental Duplications
Genome
1 Citation (Scopus)

Fine-mapping of 18q21.1 locus identifies single nucleotide polymorphisms associated with nonsyndromic cleft lip with or without cleft palate

Mitra, A. K., Stessman, H., Schaefer, R. J., Wang, W., Myers, C. L., Van Ness, B. G. & Beiraghi, S., May 23 2016, In : Frontiers in Genetics. 7, MAY, 88.

Research output: Contribution to journalArticle

Cleft Lip
Cleft Palate
Single Nucleotide Polymorphism
Genotype
Exome
88 Citations (Scopus)

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

Turner, T. N., Hormozdiari, F., Duyzend, M. H., McClymont, S. A., Hook, P. W., Iossifov, I., Raja, A., Baker, C., Hoekzema, K., Stessman, H., Zody, M. C., Nelson, B. J., Huddleston, J., Sandstrom, R., Smith, J. D., Hanna, D., Swanson, J. M., Faustman, E. M., Bamshad, M. J., Stamatoyannopoulos, J. & 4 othersNickerson, D. A., McCallion, A. S., Darnell, R. & Eichler, E. E., Jan 7 2016, In : American Journal of Human Genetics. 98, 1, p. 58-74 17 p.

Research output: Contribution to journalArticle

Autistic Disorder
Genome
Exome
DNA
Mutation
7 Citations (Scopus)

Molecular subtyping and improved treatment of neurodevelopmental disease

Stessman, H., Turner, T. N. & Eichler, E. E., Feb 25 2016, In : Genome Medicine. 8, 1, 22.

Research output: Contribution to journalArticle

Exome
Genotype
Genes
Disease Management
Molecular Biology
23 Citations (Scopus)

Single-cell analysis of targeted transcriptome predicts drug sensitivity of single cells within human myeloma tumors

Mitra, A. K., Mukherjee, U. K., Harding, T., Jang, J. S., Stessman, H., Li, Y., Abyzov, A., Jen, J., Kumar, S., Rajkumar, V. & Van Ness, B., May 1 2016, In : Leukemia. 30, 5, p. 1094-1102 9 p.

Research output: Contribution to journalArticle

Single-Cell Analysis
Transcriptome
Pharmaceutical Preparations
Neoplasms
Multiple Myeloma
2015
43 Citations (Scopus)

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations

Chen, D. H., Méneret, A., Friedman, J. R., Korvatska, O., Gad, A., Bonkowski, E. S., Stessman, H., Doummar, D., Mignot, C., Anheim, M., Bernes, S., Davis, M. Y., Damon-Perrière, N., Degos, B., Grabli, D., Gras, D., Hisama, F. M., MacKenzie, K. M., Swanson, P. D., Tranchant, C. & 11 othersVidailhet, M., Winesett, S., Trouillard, O., Amendola, L. M., Dorschner, M. O., Weiss, M., Eichler, E. E., Torkamani, A., Roze, E., Bird, T. D. & Raskind, W. H., Dec 8 2015, In : Neurology. 85, 23, p. 2026-2035 10 p.

Research output: Contribution to journalArticle

Dyskinesias
Genetic Association Studies
Adenylyl Cyclases
Chorea
Mutation
167 Citations (Scopus)

Excess of rare, inherited truncating mutations in autism

Krumm, N., Turner, T. N., Baker, C., Vives, L., Mohajeri, K., Witherspoon, K., Raja, A., Coe, B. P., Stessman, H., He, Z. X., Leal, S. M., Bernier, R. & Eichler, E. E., May 27 2015, In : Nature Genetics. 47, 6, p. 582-588 7 p.

Research output: Contribution to journalArticle

Autistic Disorder
Nucleotides
Mutation
Logistic Models
Odds Ratio
2014
244 Citations (Scopus)

Disruptive CHD8 mutations define a subtype of autism early in development

Bernier, R., Golzio, C., Xiong, B., Stessman, H., Coe, B. P., Penn, O., Witherspoon, K., Gerdts, J., Baker, C., Vulto-Van Silfhout, A. T., Schuurs-Hoeijmakers, J. H., Fichera, M., Bosco, P., Buono, S., Alberti, A., Failla, P., Peeters, H., Steyaert, J., Vissers, L. E. L. M., Francescatto, L. & 14 othersMefford, H. C., Rosenfeld, J. A., Bakken, T., O'Roak, B. J., Pawlus, M., Moon, R., Shendure, J., Amaral, D. G., Lein, E., Rankin, J., Romano, C., De Vries, B. B. A., Katsanis, N. & Eichler, E. E., Jul 17 2014, In : Cell. 158, 2, p. 263-276 14 p.

Research output: Contribution to journalArticle

Bearings (structural)
Autistic Disorder
Neurons
Brain
Genes
126 Citations (Scopus)

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

O'Roak, B. J., Stessman, H., Boyle, E. A., Witherspoon, K. T., Martin, B., Lee, C., Vives, L., Baker, C., Hiatt, J. B., Nickerson, D. A., Bernier, R., Shendure, J. & Eichler, E. E., Jan 1 2014, In : Nature Communications. 5, 5595.

Research output: Contribution to journalArticle

Autistic Disorder
mutations
genes
Genes
Mutation
715 Citations (Scopus)

The contribution of de novo coding mutations to autism spectrum disorder

Iossifov, I., O'Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., Stessman, H., Witherspoon, K. T., Vives, L., Patterson, K. E., Smith, J. D., Paeper, B., Nickerson, D. A., Dea, J., Dong, S., Gonzalez, L. E., Mandell, J. D., Mane, S. M., Murtha, M. T., Sullivan, C. A. & 27 othersWalker, M. F., Waqar, Z., Wei, L., Willsey, A. J., Yamrom, B., Lee, Y. H., Grabowska, E., Dalkic, E., Wang, Z., Marks, S., Andrews, P., Leotta, A., Kendall, J., Hakker, I., Rosenbaum, J., Ma, B., Rodgers, L., Troge, J., Narzisi, G., Yoon, S., Schatz, M. C., Ye, K., McCombie, W. R., Shendure, J., Eichler, E. E., State, M. W. & Wigler, M., Nov 13 2014, In : Nature. 515, 7526, p. 216-221 6 p.

Research output: Contribution to journalArticle

Mutation
Genes
Intelligence
Missense Mutation
Joints
16 Citations (Scopus)

Utilization of translational bioinformatics to identify novel biomarkers of bortezomib resistance in multiple myeloma

Fall, D. J., Stessman, H., Patel, S. S., Sachs, Z., Van Ness, B. G., Baughn, L. B. & Linden, M. A., Jan 1 2014, In : Journal of Cancer. 5, 9, p. 720-727 8 p.

Research output: Contribution to journalArticle

Computational Biology
Multiple Myeloma
Biomarkers
Proteasome Inhibitors
Gene Expression Profiling
2013
11 Citations (Scopus)

Bortezomib resistance can be reversed by induced expression of plasma cell maturation markers in a mouse in vitro model of multiple myeloma.

Stessman, H., Mansoor, A., Zhan, F., Linden, M. A., Van Ness, B. & Baughn, L. B., Dec 1 2013, In : PLoS One. 8, 10, e77608.

Research output: Contribution to journalArticle

myeloma
plasma cells
Plasma Cells
Multiple Myeloma
Plasmas
37 Citations (Scopus)

Profiling bortezomib resistance identifies secondary therapies in a mouse myeloma model

Stessman, H., Baughn, L. B., Sarver, A., Xia, T., Deshpande, R., Mansoor, A., Walsh, S. A., Sunderland, J. J., Dolloff, N. G., Linden, M. A., Zhan, F., Janz, S., Myers, C. L. & Van Ness, B. G., Jun 1 2013, In : Molecular Cancer Therapeutics. 12, 6, p. 1140-1150 11 p.

Research output: Contribution to journalArticle

Multiple Myeloma
Histone Deacetylase Inhibitors
Proteasome Inhibitors
Therapeutics
Gene Expression Profiling