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20132019

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2019

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

ADNP Consortium, Feb 15 2019, In : Biological Psychiatry. 85, 4, p. 287-297 11 p.

Research output: Contribution to journalArticle

26 Scopus citations

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

2 Scopus citations

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

25 Scopus citations

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

5 Scopus citations
2018

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 others, Longoni, 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. A. F., 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

13 Scopus citations
2017

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 others, Monaghan, 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. A. F., 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

27 Scopus citations

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

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

Research output: Contribution to journalArticle

26 Scopus citations

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

Hudac, C. M., Stessman, H. A. F., 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

5 Scopus citations

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 others, Avola, 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

50 Scopus citations

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. A. F., 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

67 Scopus citations

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 others, Barnett, 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

137 Scopus citations

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. A. F., Nuttle, X., Hoekzema, K., Lindsay-Graves, T. A., Wilson, R. K. & 1 others, Eichler, E. E., Feb 17 2017, In : Nature Ecology and Evolution. 1, 3, 0069.

Research output: Contribution to journalArticle

38 Scopus citations
2016

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 others, Peng, 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

92 Scopus citations

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

Stessman, H. A. F., 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 others, Cantagrel, 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

48 Scopus citations

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 others, Janke, 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

41 Scopus citations

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. A. F., 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

1 Scopus citations

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. A., 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 others, Nickerson, 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

118 Scopus citations

Molecular subtyping and improved treatment of neurodevelopmental disease

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

Research output: Contribution to journalArticle

8 Scopus citations

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

29 Scopus citations
2015

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. A., 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 others, Vidailhet, 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

57 Scopus citations

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. A., 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

216 Scopus citations
2014

Disruptive CHD8 mutations define a subtype of autism early in development

Bernier, R., Golzio, C., Xiong, B., Stessman, H. A., 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 others, Mefford, 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

303 Scopus citations

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

O'Roak, B. J., Stessman, H. A., 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., 2014, In : Nature Communications. 5, 5595.

Research output: Contribution to journalArticle

158 Scopus citations

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. A., 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 others, Walker, 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

913 Scopus citations

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

16 Scopus citations
2013

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

Stessman, H. A. F., Mansoor, A., Zhan, F., Linden, M. A., Van Ness, B. & Baughn, L. B., 2013, In : PloS one. 8, 10

Research output: Contribution to journalArticle

Open Access
12 Scopus citations

Profiling bortezomib resistance identifies secondary therapies in a mouse myeloma model

Stessman, H. A. F., 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

42 Scopus citations