Research Output

2020

AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria

Richards, D. Y., Winn, S. R., Dudley, S., Nygaard, S., Mighell, T. L., Grompe, M. & Harding, C. O., Jun 12 2020, In : Molecular Therapy - Methods and Clinical Development. 17, p. 234-245 12 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Acidic fibroblast growth factor underlies microenvironmental regulation of myc in pancreatic cancer

Bhattacharyya, S., Oon, C., Kothari, A., Horton, W., Link, J., Sears, R. C. & Sherman, M. H., Aug 3 2020, In : Journal of Experimental Medicine. 217, 8, e20191805.

Research output: Contribution to journalArticle

Open Access

An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships

Mighell, T. L., Thacker, S., Fombonne, E., Eng, C. & O'Roak, B., Jun 4 2020, In : American Journal of Human Genetics. 106, 6, p. 818-829 12 p.

Research output: Contribution to journalArticle

Autism and attention-deficit/hyperactivity disorders and symptoms in children with neurofibromatosis type 1

Morotti, H., Mastel, S., Keller, K., Barnard, R. A., Hall, T., O'Roak, B. & Fombonne, E., 2020, (Accepted/In press) In : Developmental Medicine and Child Neurology.

Research output: Contribution to journalArticle

Cannabis Use in Children With Pantothenate Kinase–Associated Neurodegeneration

Wilson, J. L., Gregory, A., Wakeman, K., Freed, A., Rai, P., Roberts, C., Hayflick, S. J. & Hogarth, P., Mar 1 2020, In : Journal of child neurology. 35, 4, p. 259-264 6 p.

Research output: Contribution to journalArticle

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

ACMG Laboratory Quality Assurance Committee, Jan 1 2020, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Open Access

Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes

Beighley, J. S., Hudac, C. M., Arnett, A. B., Peterson, J. L., Gerdts, J., Wallace, A. S., Mefford, H. C., Hoekzema, K., Turner, T. N., O'Roak, B. J., Eichler, E. E. & Bernier, R. A., Jan 15 2020, In : Biological Psychiatry. 87, 2, p. 123-131 9 p.

Research output: Contribution to journalArticle

3 Scopus citations

Deconstructing pancreatic adenocarcinoma by targeting the conductor, MYC

English, I. A. & Sears, R. C., Apr 2020, In : Cancer discovery. 10, 4, p. 495-497 3 p.

Research output: Contribution to journalArticle

Deep Functional and Molecular Characterization of a High-Risk Undifferentiated Pleomorphic Sarcoma

Berlow, N. E., Grasso, C. S., Quist, M. J., Cheng, M., Gandour-Edwards, R., Hernandez, B. S., Michalek, J. E., Ryan, C., Spellman, P., Pal, R., Million, L. S., Renneker, M. & Keller, C., 2020, In : Sarcoma. 2020, 6312480.

Research output: Contribution to journalArticle

Open Access

Deregulating MYC in a model of HER2+ breast cancer mimics human intertumoral heterogeneity

Risom, T., Wang, X., Liang, J., Zhang, X., Pelz, C., Campbell, L. G., Eng, J., Chin, K., Farrington, C., Narla, G., Langer, E. M., Sun, X. X., Su, Y., Daniel, C. J., Dai, M. S., Löhr, C. V. & Sears, R. C., Jan 2 2020, In : Journal of Clinical Investigation. 130, 1, p. 231-246 16 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report

Rohr, F., Kritzer, A., Harding, C. O., Viau, K. & Levy, H. L., Mar 2020, In : Molecular Genetics and Metabolism Reports. 22, 100555.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Fibrillin-1 in the Vasculature: In Vivo Accumulation of eGFP-Tagged Fibrillin-1 in a Knockin Mouse Model

Charbonneau, N. L., Manalo, E. C., Tufa, S. F., Carlson, E. J., Carlberg, V. M., Keene, D. R. & Sakai, L. Y., Jun 1 2020, In : Anatomical Record. 303, 6, p. 1590-1603 14 p.

Research output: Contribution to journalArticle

2 Scopus citations

Multiregion exome sequencing of ovarian immature teratomas reveals 2N near-diploid genomes, paucity of somatic mutations, and extensive allelic imbalances shared across mature, immature, and disseminated components

Heskett, M. B., Sanborn, J. Z., Boniface, C., Goode, B., Chapman, J., Garg, K., Rabban, J. T., Zaloudek, C., Benz, S. C., Spellman, P. T., Solomon, D. A. & Cho, R. J., Jun 1 2020, In : Modern Pathology. 33, 6, p. 1193-1206 14 p.

Research output: Contribution to journalArticle

1 Scopus citations

Nutrient intake, body composition, and blood phenylalanine control in children with phenylketonuria compared to healthy controls

Sailer, M., Elizondo, G., Martin, J., Harding, C. O. & Gillingham, M. B., Jun 2020, In : Molecular Genetics and Metabolism Reports. 23, 100599.

Research output: Contribution to journalArticle

Open Access

Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up

on behalf of the PAL-002 and PAL-004 Investigators, 2020, (Accepted/In press) In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

Open Access

PIN1 Provides Dynamic Control of MYC in Response to Extrinsic Signals

Cohn, G. M., Liefwalker, D., Langer, E. M. & Sears, R. C., Apr 2 2020, In : Frontiers in Cell and Developmental Biology. 8, 224.

Research output: Contribution to journalArticle

Open Access

Proteasome-dependent degradation of Smad7 is critical for lung cancer metastasis

Tong, L., Shen, S., Huang, Q., Fu, J., Wang, T., Pan, L., Zhang, P., Chen, G., Huang, T., Li, K., Liu, Q., Xie, S., Yang, X., Moses, R. E., Li, X. & Li, L., Jun 1 2020, In : Cell Death and Differentiation. 27, 6, p. 1795-1806 12 p.

Research output: Contribution to journalArticle

1 Scopus citations

Protein phosphatase 2A activation as a therapeutic strategy for managing MYC-driven cancers

Farrington, C. C., Yuan, E., Mazhar, S., Izadmehr, S., Hurst, L., Allen-Petersen, B. L., Janghorban, M., Chung, E., Wolczanski, G., Galsky, M., Sears, R., Sangodkar, J. & Narla, G., Jan 17 2020, In : Journal of Biological Chemistry. 295, 3, p. 757-770 14 p.

Research output: Contribution to journalArticle

Public perception of predictive cancer genetic testing and research in Oregon

Alvord, T. W., Marriott, L. K., Nguyen, P. T., Shafer, A., Brown, K., Stoller, W., Volpi, J. L., Vandehey-Guerrero, J., Ferrara, L. K., Blakesley, S., Solomon, E., Kuehl, H., Palma, A. J., Farris, P. E., Hamman, K., Cotter, M. & Shannon, J., Apr 1 2020, In : Journal of Genetic Counseling. 29, 2, p. 259-281 23 p.

Research output: Contribution to journalArticle

Reciprocal monoallelic expression of ASAR lncRNA genes controls replication timing of human chromosome 6

Heskett, M. B., Smith, L. G., Spellman, P. & Thayer, M. J., Jun 2020, In : RNA. 26, 6, p. 724-738 15 p.

Research output: Contribution to journalArticle

Open Access

REGγ ablation impedes dedifferentiation of anaplastic thyroid carcinoma and accentuates radio-therapeutic response by regulating the Smad7-TGF-β pathway

Jiao, C., Li, L., Zhang, P., Zhang, L., Li, K., Fang, R., Yuan, L., Shi, K., Pan, L., Guo, Q., Gao, X., Chen, G., Xu, S., Wang, Q., Zuo, D., Wu, W., Qiao, S., Wang, X., Moses, R., Xiao, J. & 3 others, Li, L., Dang, Y. & Li, X., Feb 1 2020, In : Cell Death and Differentiation. 27, 2, p. 497-508 12 p.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Screening for genetic mutations in patients with neuropathy without definite etiology is useful

Vogt, B., Chahin, N., Wiszniewski, W., Ragole, T. & Karam, C., Jan 1 2020, (Accepted/In press) In : Journal of Neurology.

Research output: Contribution to journalArticle

Select Stabilization of a Tumor-Suppressive PP2A Heterotrimer

Shah, V. M., English, I. A. & Sears, R. C., 2020, (Accepted/In press) In : Trends in pharmacological sciences.

Research output: Contribution to journalShort survey

The acute kidney injury to chronic kidney disease transition in a mouse model of acute cardiorenal syndrome emphasizes the role of inflammation

Matsushita, K., Saritas, T., Eiwaz, M. B., McClellan, N., Coe, I., Zhu, W., Ferdaus, M. Z., Sakai, L. Y., McCormick, J. A. & Hutchens, M. P., Jan 2020, In : Kidney International. 97, 1, p. 95-105 11 p.

Research output: Contribution to journalArticle

1 Scopus citations

The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling

Zeid, N., Stauffer, C., Yang, A., Naik, H., Fierro, L., Ganesh, J. & Balwani, M., Mar 2020, In : Molecular Genetics and Metabolism Reports. 22, 100567.

Research output: Contribution to journalArticle

Open Access

The proteasome activator REGγ accelerates cardiac hypertrophy by declining PP2Acα–SOD2 pathway

Xie, Y., Gao, Y., Gao, R., Yang, W., Dong, Z., Moses, R. E., Sun, A., Li, X. & Ge, J., 2020, (Accepted/In press) In : Cell Death and Differentiation.

Research output: Contribution to journalArticle

Open Access
2019

4′-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN

Jeong, S. Y., Hogarth, P., Placzek, A., Gregory, A. M., Fox, R., Zhen, D., Hamada, J., van der Zwaag, M., Lambrechts, R., Jin, H., Nilsen, A., Cobb, J., Pham, T., Gray, N., Ralle, M., Duffy, M., Schwanemann, L., Rai, P., Freed, A., Wakeman, K. & 3 others, Woltjer, R. L., Sibon, O. C. M. & Hayflick, S. J., Dec 1 2019, In : EMBO Molecular Medicine. 11, 12, e10489.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

A case of recurrent epilepsy-associated rosette-forming glioneuronal tumor with anaplastic transformation in the absence of therapy

Halfpenny, A., Ferris, S. P., Grafe, M., Woltjer, R., Selden, N., Nazemi, K., Perry, A., Solomon, D. A., Gultekin, S. H., Moore, S., Olson, S., Lawce, H., Lucas, L., Corless, C. L. & Wood, M. D., Oct 1 2019, In : Neuropathology. 39, 5, p. 389-393 5 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Activation of PP2A and inhibition of mTOR synergistically reduce MYC signaling and decrease tumor growth in pancreatic ductal adenocarcinoma

Allen-Petersen, B. L., Risom, T., Feng, Z., Wang, Z., Jenny, Z. P., Thoma, M. C., Pelz, K. R., Morton, J. P., Sansom, O. J., Lopez, C. D., Sheppard, B., Christensen, D. J., Ohlmeyer, M., Narla, G. & Sears, R. C., Jan 1 2019, In : Cancer Research. 79, 1, p. 209-219 11 p.

Research output: Contribution to journalArticle

16 Scopus citations

ADDENDUM: Section E9 of the American College of Medical Genetics Technical Standards and Guidelines: Fluorescence in situ hybridization

A Working Group of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee, Oct 1 2019, In : Genetics in medicine : official journal of the American College of Medical Genetics. 21, 10, 1 p.

Research output: Contribution to journalComment/debate

Alternative splicing in tumors - A path to immunogenicity?

Slansky, J. E. & Spellman, P., Feb 28 2019, In : New England Journal of Medicine. 380, 9, p. 877-880 4 p.

Research output: Contribution to journalArticle

7 Scopus citations

A new NBIA patient from Turkey with homozygous C19ORF12 mutation

Kasapkara, Ç. S., Tümer, L., Gregory, A., Ezgü, F., İnci, A., Derinkuyu, B. E., Fox, R., Rogers, C. & Hayflick, S., Dec 1 2019, In : Acta Neurologica Belgica. 119, 4, p. 623-625 3 p.

Research output: Contribution to journalLetter

1 Scopus citations

A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development

Shapira, S. K., Tian, L. H., Aylsworth, A. S., Elias, E. R., Hoover-Fong, J. E., Meeks, N. J. L., Souders, M. C., Tsai, A. C. H., Zackai, E. H., Alexander, A. A., Yeargin-Allsopp, M. & Schieve, L. A., May 15 2019, In : Journal of autism and developmental disorders. 49, 5, p. 2184-2202 19 p.

Research output: Contribution to journalArticle

A patient with berardinelli-seip syndrome, novel AGPAT2 splicesite mutation and concomitant development of non-diabetic polyneuropathy

Oswiecimska, J., Dawidziuk, M., Gambin, T., Ziora, K., Marek, M., Rzonca, S., Guilbride, D. L., Jhangiani, S. N., Obuchowicz, A., Sikora, A., Lupski, J. R., Wiszniewski, W. & Gawlinski, P., Sep 2019, In : JCRPE Journal of Clinical Research in Pediatric Endocrinology. 11, 3, p. 319-326 8 p.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Applications of molecular neuro-oncology - A review of diffuse glioma integrated diagnosis and emerging molecular entities

Wood, M., Halfpenny, A. M. & Moore, S., Apr 9 2019, In : Diagnostic Pathology. 14, 1, 29.

Research output: Contribution to journalReview article

Open Access
12 Scopus citations

A stromal lysolipid–autotaxin signaling axis promotes pancreatic tumor progression

Auciello, F. R., Bulusu, V., Oon, C., Tait-Mulder, J., Berry, M., Bhattacharyya, S., Tumanov, S., Allen-Petersen, B. L., Link, J., Kendsersky, N. D., Vringer, E., Schug, M., Novo, D., Hwang, R. F., Evans, R. M., Nixon, C., Dorrell, C., Morton, J. P., Norman, J. C., Sears, R. C. & 2 others, Kamphorst, J. J. & Sherman, M. H., May 2019, In : Cancer discovery. 9, 5, p. 617-627 11 p.

Research output: Contribution to journalArticle

Open Access
19 Scopus citations

Author Correction: Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations (Nature, (2016), 540, 7632, (270-275), 10.1038/nature20592)

Kang, E., Wu, J., Gutierrez, N. M., Koski, A., Tippner-Hedges, R., Agaronyan, K., Platero-Luengo, A., Martinez-Redondo, P., Ma, H., Lee, Y., Hayama, T., Van Dyken, C., Wang, X., Luo, S., Ahmed, R., Li, Y., Ji, D., Kayali, R., Cinnioglu, C., Olson, S. & 10 others, Jensen, J., Battaglia, D., Lee, D., Wu, D., Huang, T., Wolf, D. P., Temiakov, D., Belmonte, J. C. I., Amato, P. & Mitalipov, S., Mar 14 2019, In : Nature. 567, 7747, p. E5-E9

Research output: Contribution to journalComment/debate

Open Access
2 Scopus citations

Autologous Gene and Cell Therapy Provides Safe and Long-Term Curative Therapy in A Large Pig Model of Hereditary Tyrosinemia Type 1

Hickey, R. D., Nicolas, C. T., Allen, K., Mao, S., Elgilani, F., Glorioso, J., Amiot, B., VanLith, C., Guthman, R., Du, Z., Chen, H., Harding, C., Kaiser, R. A., Nyberg, S. L. & Lillegard, J. B., Jan 1 2019, In : Cell Transplantation. 28, 1, p. 79-88 10 p.

Research output: Contribution to journalArticle

4 Scopus citations

Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN)

Gregory, A., Lotia, M., Jeong, S. Y., Fox, R., Zhen, D., Sanford, L., Hamada, J., Jahic, A., Beetz, C., Freed, A., Kurian, M. A., Cullup, T., van der Weijden, M. C. M., Nguyen, V., Setthavongsack, N., Garcia, D., Krajbich, V., Pham, T., Woltjer, R., George, B. P. & 5 others, Minks, K. Q., Paciorkowski, A. R., Hogarth, P., Jankovic, J. & Hayflick, S. J., Jul 2019, In : Molecular Genetics and Genomic Medicine. 7, 7, e00736.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Blood cytokine patterns suggest a modest inflammation phenotype in subjects with long-chain fatty acid oxidation disorders

McCoin, C. S., Gillingham, M. B., Knotts, T. A., Vockley, J., Ono-Moore, K. D., Blackburn, M. L., Norman, J. E. & Adams, S. H., Mar 2019, In : Physiological reports. 7, 6, e14037.

Research output: Contribution to journalArticle

Open Access

Circulating tumor DNA dynamics using patient-customized assays are associated with outcome in neoadjuvantly treated breast cancer

Butler, T. M., Boniface, C. T., Johnson-Camacho, K., Tabatabaei, S., Melendez, D., Kelley, T., Gray, J., Corless, C. L. & Spellman, P. T., 2019, In : Cold Spring Harbor Molecular Case Studies. 5, 2, a003772.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Karolak, J. A., Vincent, M., Deutsch, G., Gambin, T., Cogné, B., Pichon, O., Vetrini, F., Mefford, H. C., Dines, J. N., Golden-Grant, K., Dipple, K., Freed, A. S., Leppig, K. A., Dishop, M., Mowat, D., Bennetts, B., Gifford, A. J., Weber, M. A., Lee, A. F., Boerkoel, C. F. & 52 others, Bartell, T. M., Ward-Melver, C., Besnard, T., Petit, F., Bache, I., Tümer, Z., Denis-Musquer, M., Joubert, M., Martinovic, J., Bénéteau, C., Molin, A., Carles, D., André, G., Bieth, E., Chassaing, N., Devisme, L., Chalabreysse, L., Pasquier, L., Secq, V., Don, M., Orsaria, M., Missirian, C., Mortreux, J., Sanlaville, D., Pons, L., Küry, S., Bézieau, S., Liet, J. M., Joram, N., Bihouée, T., Scott, D. A., Brown, C. W., Scaglia, F., Tsai, A. C. H., Grange, D. K., Phillips, J. A., Pfotenhauer, J. P., Jhangiani, S. N., Gonzaga-Jauregui, C. G., Chung, W. K., Schauer, G. M., Lipson, M. H., Mercer, C. L., van Haeringen, A., Liu, Q., Popek, E., Coban Akdemir, Z. H., Lupski, J. R., Szafranski, P., Isidor, B., Le Caignec, C. & Stankiewicz, P., Feb 7 2019, In : American Journal of Human Genetics. 104, 2, p. 213-228 16 p.

Research output: Contribution to journalArticle

17 Scopus citations

Copper and the brain noradrenergic system

Lutsenko, S., Washington-Hughes, C., Ralle, M. & Schmidt, K., Dec 1 2019, In : Journal of Biological Inorganic Chemistry. 24, 8, p. 1179-1188 10 p.

Research output: Contribution to journalReview article

1 Scopus citations

Correction: Modeling differentiation-state transitions linked to therapeutic escape in triple-negative breast cancer (PLOS Comput BIOL (2019) 15:3 (E1006840) DOI: 10.1371/journal.pcbi.1006840)

Chapman, M. P., Risom, T., Aswani, A. J., Langer, E. M., Sears, R. C. & Tomlin, C. J., 2019, In : PLoS computational biology. 15, 10, e1007441.

Research output: Contribution to journalComment/debate

Open Access

Differentiation of leukemic blasts is not completely blocked in acute myeloid leukemia

Agarwal, A., Bolosky, W. J., Wilson, D. B., Eide, C. A., Olson, S. B., Fan, G. & Druker, B. J., Dec 3 2019, In : Proceedings of the National Academy of Sciences of the United States of America. 116, 49, p. 24593-24599 7 p.

Research output: Contribution to journalArticle

Erratum to: Interplay between hypoxia and androgen controls a metabolic switch conferring resistance to androgen/AR-targeted therapy (Nature Communications, (2018), 9, 1, (4972), 10.1038/s41467-018-07411-7)

Geng, H., Xue, C., Mendonca, J., Sun, X. X., Liu, Q., Reardon, P. N., Chen, Y., Qian, K., Hua, V., Chen, A., Pan, F., Yuan, J., Dang, S., Beer, T. M., Dai, M. S., Kachhap, S. K. & Qian, D. Z., Dec 1 2019, In : Nature communications. 10, 1, 164.

Research output: Contribution to journalComment/debate

GRB7 dependent proliferation of basal-like, HER-2 positive human breast cancer cell lines is mediated in part by HER-1 signaling

Luoh, S. W., Wagoner, W., Wang, X., Hu, Z., Lai, X., Chin, K., Sears, R. & Ramsey, E., May 2019, In : Molecular Carcinogenesis. 58, 5, p. 699-707 9 p.

Research output: Contribution to journalArticle

3 Scopus citations

Hemozoin produced by mammals confers heme tolerance

Pek, R. H., Yuan, X., Rietzschel, N., Zhang, J., Jackson, L., Nishibori, E., Ribeiro, A., Simmons, W., Jagadeesh, J., Sugimoto, H., Alam, M. Z., Garrett, L., Haldar, M., Ralle, M., Phillips, J. D., Bodine, D. M. & Hamza, I., Oct 2019, In : eLife. 8, e49503.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

High-Throughput Single-Cell Sequencing with Linear Amplification

Yin, Y., Jiang, Y., Lam, K. W. G., Berletch, J. B., Disteche, C. M., Noble, W. S., Steemers, F. J., Camerini-Otero, R. D., Adey, A. C. & Shendure, J., Nov 21 2019, In : Molecular Cell. 76, 4, p. 676-690.e10

Research output: Contribution to journalArticle

5 Scopus citations