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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

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

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

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

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., Jan 1 2020, (Accepted/In press) In : Modern Pathology.

Research output: Contribution to journalArticle

PIN1 Provides Dynamic Control of MYC in Response to Extrinsic Signals

Cohn, G. M., Liefwalker, D. F., 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

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

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
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
2 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. R., Selden, N., Nazemi, K., Perry, A., Solomon, D. A., Gultekin, S., Moore, S., Olson, S., Lawce, H., Lucas, L., Corless, C. & Wood, M., Jan 1 2019, (Accepted/In press) In : Neuropathology.

Research output: Contribution to journalArticle

Open Access

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

15 Scopus citations

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

5 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

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. & 2 others, Kamphorst, J. J. & Sherman, M., May 1 2019, In : Cancer discovery. 9, 5, p. 617-627 11 p.

Research output: Contribution to journalArticle

Open Access
14 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

3 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., Jan 1 2019, In : Cold Spring Harbor Molecular Case Studies. 5, 2, a003772.

Research output: Contribution to journalArticle

Open Access
2 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

15 Scopus citations

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

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., Jan 1 2019, In : Anatomical Record.

Research output: Contribution to journalArticle

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-Y., Sears, R. & Ramsey, E., Jan 1 2019, In : Molecular Carcinogenesis.

Research output: Contribution to journalArticle

1 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
2 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

3 Scopus citations

Human Tumor-Associated Macrophage and Monocyte Transcriptional Landscapes Reveal Cancer-Specific Reprogramming, Biomarkers, and Therapeutic Targets

Cassetta, L., Fragkogianni, S., Sims, A. H., Swierczak, A., Forrester, L. M., Zhang, H., Soong, D. Y. H., Cotechini, T., Anur, P., Lin, E. Y., Fidanza, A., Lopez-Yrigoyen, M., Millar, M. R., Urman, A., Ai, Z., Spellman, P. T., Hwang, E. S., Dixon, J. M., Wiechmann, L., Coussens, L. M. & 2 others, Smith, H. O. & Pollard, J. W., Apr 15 2019, In : Cancer Cell. 35, 4, p. 588-602.e10

Research output: Contribution to journalArticle

Open Access
44 Scopus citations

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders

for the Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Study Group, Jul 2019, In : Annals of Neurology. 86, 1, p. 116-128 13 p.

Research output: Contribution to journalArticle

3 Scopus citations

Localization of the Locus Coeruleus in the Mouse Brain

Schmidt, K., Bari, B., Ralle, M., Washington-Hughes, C., Muchenditsi, A., Maxey, E. & Lutsenko, S., Mar 7 2019, In : Journal of visualized experiments : JoVE. 145

Research output: Contribution to journalArticle

2 Scopus citations

Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria

Zori, R., Ahring, K., Burton, B., Pastores, G. M., Rutsch, F., Jha, A., Jurecki, E., Rowell, R. & Harding, C., Sep 1 2019, In : Molecular Genetics and Metabolism. 128, 1-2, p. 92-101 10 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients

Diaz, G. A., Schulze, A., Longo, N., Rhead, W., Feigenbaum, A., Wong, D., Merritt, J. L., Berquist, W., Gallagher, R. C., Bartholomew, D., McCandless, S. E., Smith, W. E., Harding, C. O., Zori, R., Lichter-Konecki, U., Vockley, J., Canavan, C., Vescio, T., Holt, R. J. & Berry, S. A., Aug 2019, In : Molecular Genetics and Metabolism. 127, 4, p. 336-345 10 p.

Research output: Contribution to journalArticle

Open Access

Manganese co-localizes with calcium and phosphorus in Chlamydomonas acidocalcisomes and is mobilized in manganese-deficient conditions

Tsednee, M., Castruita, M., Salomé, P. A., Sharma, A., Lewis, B. E., Schmollinger, S. R., Strenkert, D., Holbrook, K., Otegui, M. S., Khatua, K., Das, S., Datta, A., Chen, S., Ramon, C., Ralle, M., Weber, P. K., Stemmler, T. L., Pett-Ridge, J., Hoffman, B. M. & Merchant, S. S., Jan 1 2019, In : Journal of Biological Chemistry. 294, 46, p. 17626-17641 16 p.

Research output: Contribution to journalArticle

1 Scopus citations

Modeling differentiation-state transitions linked to therapeutic escape in triple-negative breast cancer

Chapman, M. P., Risom, T., Aswani, A. J., Langer, E. M., Sears, R. & Tomlin, C. J., Mar 1 2019, In : PLoS computational biology. 15, 3, p. e1006840

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Modeling Tumor Phenotypes In Vitro with Three-Dimensional Bioprinting

Langer, E. M., Allen-Petersen, B. L., King, S. M., Kendsersky, N. D., Turnidge, M. A., Kuziel, G. M., Riggers, R., Samatham, R., Amery, T. S., Jacques, S. L., Sheppard, B. C., Korkola, J. E., Muschler, J. L., Thibault, G., Chang, Y. H., Gray, J. W., Presnell, S. C., Nguyen, D. G. & Sears, R. C., Jan 15 2019, In : Cell Reports. 26, 3, p. 608-623.e6

Research output: Contribution to journalArticle

11 Scopus citations

Mycand loss of p53 cooperate to drive formation of choroid plexus carcinoma

Wang, J., Merino, D. M., Light, N., Murphy, B. L., Wang, Y. D., Guo, X., Hodges, A. P., Chau, L. Q., Liu, K. W., Dhall, G., Asgharzadeh, S., Kiehna, E. N., Shirey, R. J., Janda, K. D., Taylor, M. D., Malkin, D., Ellison, D. W., VandenBerg, S. R., Eberhart, C. G., Sears, R. C. & 3 others, Rousse, M. F., Gilbertson, R. J. & Wechsler-Reya, R. J., Jan 1 2019, In : Cancer Research. 79, 9, p. 2208-2219 12 p.

Research output: Contribution to journalArticle

2 Scopus citations

Obesity is associated with copper elevation in serum and tissues

Yang, H., Liu, C. N., Wolf, R. M., Ralle, M., Dev, S., Pierson, H., Askin, F., Steele, K. E., Magnuson, T. H., Schweitzer, M. A., Wong, G. W. & Lutsenko, S., Aug 1 2019, In : Metallomics. 11, 8, p. 1363-1371 9 p.

Research output: Contribution to journalArticle

7 Scopus citations

Primary Cortisol Deficiency and Growth Hormone Deficiency in a Neonate with Hypoglycemia: Coincidence or Consequence?

Gujral, J., Yau, M., Yang, A. C., Kastury, R., Romero, C. J., Wallach, E., Wilkes, M., Costin, G. & Rapaport, R., Jan 1 2019, In : Journal of the Endocrine Society. 3, 4, p. 838-846 9 p.

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., Jan 1 2019, (Accepted/In press) In : Cell Death and Differentiation.

Research output: Contribution to journalArticle

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., Jan 1 2019, In : Cell Death and Differentiation.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

Hart, M. R., Biesecker, B. B., Blout, C. L., Christensen, K. D., Amendola, L. M., Bergstrom, K. L., Biswas, S., Bowling, K. M., Brothers, K. B., Conlin, L. K., Cooper, G. M., Dulik, M. C., East, K. M., Everett, J. N., Finnila, C. R., Ghazani, A. A., Gilmore, M. J., Goddard, K. A. B., Jarvik, G. P., Johnston, J. J. & 22 others, Kauffman, T. L., Kelley, W. V., Krier, J. B., Lewis, K. L., McGuire, A. L., McMullen, C., Ou, J., Plon, S. E., Rehm, H. L., Richards, C. S., Romasko, E. J., Miren Sagardia, A., Spinner, N. B., Thompson, M. L., Turbitt, E., Vassy, J. L., Wilfond, B. S., Veenstra, D. L., Berg, J. S., Green, R. C., Biesecker, L. G. & Hindorff, L. A., May 1 2019, In : Genetics in Medicine. 21, 5, p. 1100-1110 11 p.

Research output: Contribution to journalArticle

10 Scopus citations

Single-cell sequencing of primate preimplantation embryos reveals chromosome elimination via cellular fragmentation and blastomere exclusion

Daughtry, B. L., Rosenkrantz, J. L., Lazar, N. H., Fei, S. S., Redmayne, N., Torkenczy, K. A., Adey, A., Yan, M., Gao, L., Park, B., Nevonen, K. A., Carbone, L. & Chavez, S., Mar 1 2019, In : Genome Research. 29, 3, p. 367-382 16 p.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

Targeting mitochondria in cancer therapy could provide a basis for the selective anticancer activity

Rozanov, D., Cheltsov, A., Nilsen, A., Boniface, C., Forquer, I., Korkola, J., Gray, J., Tyner, J., Tognon, C. E., Mills, G. & Spellman, P., Mar 1 2019, In : PloS one. 14, 3, e0205623.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

The accessible chromatin landscape of the murine hippocampus at single-cell resolution

Sinnamon, J. R., Torkenczy, K. A., Linhoff, M. W., Vitak, S. A., Mulqueen, R. M., Pliner, H. A., Trapnell, C., Steemers, F. J., Mandel, G. & Adey, A., May 1 2019, In : Genome Research. 29, 5, p. 857-869 13 p.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

The proteasome activator REGγ counteracts immunoproteasome expression and autoimmunity

Yao, L., Zhou, L., Xuan, Y., Zhang, P., Wang, X., Wang, T., Meng, T., Xue, Y., Ma, X., Shah, A. S., Shang, S., Ma, X., Xie, W., Wang, H., Fu, Q., Xia, Y., Moses, R., Wang, H., Li, L., Xiao, J. & 2 others, Zhang, B. & Li, X., Sep 1 2019, In : Journal of Autoimmunity. 103, 102282.

Research output: Contribution to journalArticle

1 Scopus citations

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

Additional Individual Contributors Of The Ucdc And The E-Imd Consortium, Jan 2019, In : Journal of inherited metabolic disease. 42, 1, p. 93-106 14 p.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations
2018

A case for expanding carrier testing to include actionable X-linked disorders

Rope, A. F., Kauffman, T. L., Himes, P., Amendola, L. M., Punj, S., Akkari, Y., Potter, A., Davis, J. V., Schneider, J. L., Reiss, J. A., Gilmore, M. J., McMullen, C. K., Nickerson, D. A., Richards, C. S., Jarvik, G. P., Wilfond, B. S. & Goddard, K. A. B., Jan 1 2018, (Accepted/In press) In : Clinical Case Reports.

Research output: Contribution to journalArticle

A Comprehensive Pan-Cancer Molecular Study of Gynecologic and Breast Cancers

The Cancer Genome Atlas Research Network, Apr 9 2018, In : Cancer Cell. 33, 4, p. 690-705.e9

Research output: Contribution to journalArticle

91 Scopus citations

Altered zinc balance in the Atp7b−/− mouse reveals a mechanism of copper toxicity in Wilson disease

Meacham, K. A., Cortés, M. P., Wiggins, E. M., Maass, A., Latorre, M., Ralle, M. & Burkhead, J. L., Nov 1 2018, In : Metallomics. 10, 11, p. 1595-1606 12 p.

Research output: Contribution to journalArticle

2 Scopus citations