Genomic Instability and Cancer Genetics Program, CINJ

Research Output 1973 2020

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2020

Dose-dependent growth delay of breast cancer xenografts in the bone marrow of mice treated with 223Ra: The role of bystander effects and their potential for therapy

Leung, C. N., Canter, B. S., Rajon, D., Bäck, T. A., Christopher Fritton, J., Azzam, E. I. & Howell, R. W., Jan 2020, In : Journal of Nuclear Medicine. 61, 1, p. 89-95 7 p.

Research output: Contribution to journalArticle

Bystander Effect
Heterografts
Bone Marrow
Breast Neoplasms
Growth

Loss of Setd4 delays radiation-induced thymic lymphoma in mice

Feng, X., Lu, H., Yue, J., Schneider, N., Liu, J., Denzin, L. K., Chan, C. S., De, S. & Shen, Z., Feb 2020, In : DNA Repair. 86, 102754.

Research output: Contribution to journalArticle

Open Access
Lymphoma
Radiation
Chromosomes
Tumors
Carcinogenesis

The North American Neuroendocrine Tumor Society Consensus Paper on the Surgical Management of Pancreatic Neuroendocrine Tumors

Howe, J. R., Merchant, N. B., Conrad, C., Keutgen, X. M., Hallet, J., Drebin, J. A., Minter, R. M., Lairmore, T. C., Tseng, J. F., Zeh, H. J., Libutti, S. K., Singh, G., Lee, J. E., Hope, T. A., Kim, M. K., Menda, Y., Halfdanarson, T. R., Chan, J. A. & Pommier, R. F., Jan 1 2020, In : Pancreas. 49, 1, p. 1-33 33 p.

Research output: Contribution to journalArticle

Neuroendocrine Tumors
Patient Care
2019
3 Citations (Scopus)

Activation of S6 signaling is associated with cell survival and multinucleation in hyperplastic skin after epidermal loss of AURORA-A Kinase

Ryan, W. K., Fernandez, J., Peterson, M. K., Sheneman, D. W., Podell, B. K., De, S. & Torchia, E. C., Mar 1 2019, In : Cell Death and Differentiation. 26, 3, p. 548-564 17 p.

Research output: Contribution to journalArticle

S 6
Keratinocytes
Cell Survival
Phosphotransferases
Mitosis

Addiction associated N40D mu-opioid receptor variant modulates synaptic function in human neurons

Halikere, A., Popova, D., Scarnati, M. S., Hamod, A., Swerdel, M. R., Moore, J. C., Tischfield, J. A., Hart, R. P. & Pang, Z. P., Jan 1 2019, (Accepted/In press) In : Molecular psychiatry.

Research output: Contribution to journalArticle

mu Opioid Receptor
Neurons
Synaptic Transmission
Opioid Analgesics
Single Nucleotide Polymorphism
1 Citation (Scopus)

Allele-specific expression and high-throughput reporter assay reveal functional genetic variants associated with alcohol use disorders

Rao, X., Thapa, K. S., Chen, A. B., Lin, H., Gao, H., Reiter, J. L., Hargreaves, K. A., Ipe, J., Lai, D., Xuei, X., Wang, Y., Gu, H., Kapoor, M., Farris, S. P., Tischfield, J., Foroud, T., Goate, A. M., Skaar, T. C., Mayfield, R. D., Edenberg, H. J. & 1 others, Liu, Y., Jan 1 2019, (Accepted/In press) In : Molecular psychiatry.

Research output: Contribution to journalArticle

Open Access
Alleles
Single Nucleotide Polymorphism
Alcohols
Genome-Wide Association Study
3' Untranslated Regions

Alterations to the esophageal microbiome associated with progression from Barrett's esophagus to esophageal adenocarcinoma

Snider, E. J., Compres, G., Freedberg, D. E., Khiabanian, H., Nobel, Y. R., Stump, S., Uhlemann, A. C., Lightdale, C. J. & Abrams, J. A., Jan 1 2019, In : Cancer Epidemiology Biomarkers and Prevention. 28, 10, p. 1687-1693 7 p.

Research output: Contribution to journalArticle

Barrett Esophagus
Microbiota
Adenocarcinoma
Endoscopy
Veillonella
1 Citation (Scopus)

ALYREF links 3′-end processing to nuclear export of non-polyadenylated mRNAs

Fan, J., Wang, K., Du, X., Wang, J., Chen, S., Wang, Y., Shi, M., Zhang, L., Wu, X., Zheng, D., Wang, C., Wang, L., Tian, B., Li, G., Zhou, Y. & Cheng, H., May 2 2019, In : EMBO Journal. 38, 9, e99910.

Research output: Contribution to journalArticle

Cell Nucleus Active Transport
Histones
U7 Small Nuclear Ribonucleoproteins
Messenger RNA
Processing
5 Citations (Scopus)

Analysis of whole genome-transcriptomic organization in brain to identify genes associated with alcoholism

Kapoor, M., Wang, J. C., Farris, S. P., Liu, Y., McClintick, J., Gupta, I., Meyers, J. L., Bertelsen, S., Chao, M., Nurnberger, J., Tischfield, J., Harari, O., Zeran, L., Hesselbrock, V., Bauer, L., Raj, T., Porjesz, B., Agrawal, A., Foroud, T., Edenberg, H. J. & 2 others, Mayfield, R. D. & Goate, A., Dec 1 2019, In : Translational psychiatry. 9, 1, 89.

Research output: Contribution to journalArticle

Open Access
Alcoholism
Genome
Alcohol Drinking
Brain
Genes

A Quasi Birth-and-Death model for tumor recurrence

Santana, L. M., Ganesan, S. & Bhanot, G., Nov 7 2019, In : Journal of Theoretical Biology. 480, p. 175-191 17 p.

Research output: Contribution to journalArticle

Recurrence
Tumors
Tumor
Parturition
death
2 Citations (Scopus)

Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants

Kasak, L., Bakolitsa, C., Hu, Z., Yu, C., Rine, J., Dimster-Denk, D. F., Pandey, G., De Baets, G., Bromberg, Y., Cao, C., Capriotti, E., Casadio, R., Van Durme, J., Giollo, M., Karchin, R., Katsonis, P., Leonardi, E., Lichtarge, O., Martelli, P. L., Masica, D. & 15 others, Mooney, S. D., Olatubosun, A., Radivojac, P., Rousseau, F., Pal, L. R., Savojardo, C., Schymkowitz, J., Thusberg, J., Tosatto, S. C. E., Vihinen, M., Väliaho, J., Repo, S., Moult, J., Brenner, S. E. & Friedberg, I., Sep 1 2019, In : Human mutation. 40, 9, p. 1530-1545 16 p.

Research output: Contribution to journalArticle

Cystathionine beta-Synthase
Cystathionine
Homocystinuria
Phenotype
Hyperhomocysteinemia
3 Citations (Scopus)

Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer

Voskanian, A., Katsonis, P., Lichtarge, O., Pejaver, V., Radivojac, P., Mooney, S. D., Capriotti, E., Bromberg, Y., Wang, Y., Miller, M., Martelli, P. L., Savojardo, C., Babbi, G., Casadio, R., Cao, Y., Sun, Y., Shen, Y., Garg, A., Pal, D., Yu, Y. & 9 others, Huff, C. D., Tavtigian, S. V., Young, E., Neuhausen, S. L., Ziv, E., Pal, L. R., Andreoletti, G., Brenner, S. E. & Kann, M. G., Sep 1 2019, In : Human mutation. 40, 9, p. 1612-1622 11 p.

Research output: Contribution to journalArticle

Checkpoint Kinase 2
Hispanic Americans
Computer Simulation
Virulence
Breast Neoplasms
2 Citations (Scopus)

Assessment of methods for predicting the effects of PTEN and TPMT protein variants

Pejaver, V., Babbi, G., Casadio, R., Folkman, L., Katsonis, P., Kundu, K., Lichtarge, O., Martelli, P. L., Miller, M., Moult, J., Pal, L. R., Savojardo, C., Yin, Y., Zhou, Y., Radivojac, P. & Bromberg, Y., Sep 1 2019, In : Human mutation. 40, 9, p. 1495-1506 12 p.

Research output: Contribution to journalArticle

PTEN Phosphohydrolase
Mutation
Inborn Genetic Diseases
Proxy
Thermodynamics
2 Citations (Scopus)

Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016

Clark, W. T., Kasak, L., Bakolitsa, C., Hu, Z., Andreoletti, G., Babbi, G., Bromberg, Y., Casadio, R., Dunbrack, R., Folkman, L., Ford, C. T., Jones, D., Katsonis, P., Kundu, K., Lichtarge, O., Martelli, P. L., Mooney, S. D., Nodzak, C., Pal, L. R., Radivojac, P. & 13 others, Savojardo, C., Shi, X., Zhou, Y., Uppal, A., Xu, Q., Yin, Y., Pejaver, V., Wang, M., Wei, L., Moult, J., Yu, G. K., Brenner, S. E. & LeBowitz, J. H., Sep 1 2019, In : Human mutation. 40, 9, p. 1519-1529 11 p.

Research output: Contribution to journalArticle

Acetylglucosaminidase
Mucopolysaccharidosis III
Hydrolases
Missense Mutation
Rare Diseases
3 Citations (Scopus)

A Translation-Activating Function of MIWI/piRNA during Mouse Spermiogenesis

Dai, P., Wang, X., Gou, L. T., Li, Z. T., Wen, Z., Chen, Z. G., Hua, M. M., Zhong, A., Wang, L., Su, H., Wan, H., Qian, K., Liao, L., Li, J., Tian, B., Li, D., Fu, X. D., Shi, H. J., Zhou, Y. & Liu, M. F., Dec 12 2019, In : Cell. 179, 7, p. 1566-1581.e16

Research output: Contribution to journalArticle

Spermatogenesis
Small Interfering RNA
Messenger RNA
Machinery
Spermatozoa
2 Citations (Scopus)

A tRNA modification balances carbon and nitrogen metabolism by regulating phosphate homeostasis

Gupta, R., Walvekar, A. S., Liang, S., Rashida, Z., Shah, P. & Laxman, S., Jul 2019, In : eLife. 8, e44795.

Research output: Contribution to journalArticle

Open Access
Transfer RNA
Metabolism
Homeostasis
Nitrogen
Carbon
7 Citations (Scopus)

BRCA1 Haploinsufficiency Is Masked by RNF168-Mediated Chromatin Ubiquitylation

Zong, D., Adam, S., Wang, Y., Sasanuma, H., Callén, E., Murga, M., Day, A., Kruhlak, M. J., Wong, N., Munro, M., Ray Chaudhuri, A., Karim, B., Xia, B., Takeda, S., Johnson, N., Durocher, D. & Nussenzweig, A., Mar 21 2019, In : Molecular cell. 73, 6, p. 1267-1281.e7

Research output: Contribution to journalArticle

Haploinsufficiency
Ubiquitination
Homologous Recombination
Chromatin
Genomic Instability

Comparison of Bethesda cytopathology classification to surgical pathology across racial-ethnic groups

Bresler, A., Mehta, V., Schiff, B. A., Smith, R. V., Khader, S., Ramos-Rivera, G., Lin, J., Libutti, S., Laird, A. M. & Ow, T. J., Jul 1 2019, In : Head and Neck. 41, 7, p. 2340-2345 6 p.

Research output: Contribution to journalArticle

Surgical Pathology
Ethnic Groups
Hispanic Americans
Sensitivity and Specificity
African Americans
6 Citations (Scopus)

Complete Regression of Advanced Pancreatic Ductal Adenocarcinomas upon Combined Inhibition of EGFR and C-RAF

Blasco, M. T., Navas, C., Martín-Serrano, G., Graña-Castro, O., Lechuga, C. G., Martín-Díaz, L., Djurec, M., Li, J., Morales-Cacho, L., Esteban-Burgos, L., Perales-Patón, J., Bousquet-Mur, E., Castellano, E., Jacob, H. K. C., Cabras, L., Musteanu, M., Drosten, M., Ortega, S., Mulero, F., Sainz, B. & 9 others, Dusetti, N., Iovanna, J., Sánchez-Bueno, F., Hidalgo, M., Khiabanian, H., Rabadán, R., Al-Shahrour, F., Guerra, C. & Barbacid, M., Apr 15 2019, In : Cancer Cell. 35, 4, p. 573-587.e6

Research output: Contribution to journalArticle

Adenocarcinoma
Mutation
Heterografts
Neoplasms
Therapeutics
2 Citations (Scopus)

Ddc2ATRIP promotes Mec1ATR activation at RPA-ssDNA tracts

Biswas, H., Goto, G., Wang, W., Sung, P. & Sugimoto, K., Jan 1 2019, In : PLoS genetics. 15, 8, e1008294.

Research output: Contribution to journalArticle

Open Access
Replication Protein A
single-stranded DNA
Single-Stranded DNA
S Phase Cell Cycle Checkpoints
DNA Damage

Disrupting MLV integrase:BET protein interaction biases integration into quiescent chromatin and delays but does not eliminate tumor activation in a MYC/Runx2 mouse model

Loyola, L., Achuthan, V., Gilroy, K., Borland, G., Kilbey, A., MacKay, N., Bell, M., Hay, J., Aiyer, S., Fingerman, D., Villanueva, R. A., Cameron, E., Kozak, C. A., Engelman, A. N., Neil, J. & Roth, M. J., Jan 1 2019, In : PLoS pathogens. 15, 12, e1008154.

Research output: Contribution to journalArticle

Open Access
Integrases
Murine Leukemia Viruses
Chromatin
Tail
Peptides

Does attending a Delphi consensus conference impact surgeon attitudes? Survey results from the Americas HepatoPancreatoBiliary Association consensus conference on small asymptomatic pancreatic neuroendocrine tumors

Maker, A. V., Tran, T. B., Coburn, N., Fong, Z. V., Cardona, K., Newell, P., Morris-Stiff, G., Chavin, K., Mansour, J., Warner, S., Warren, R., St Hill, C., Celinski, S., Ly, Q., Howe, J. & Libutti, S., May 1 2019, In : HPB. 21, 5, p. 524-530 7 p.

Research output: Contribution to journalArticle

Neuroendocrine Tumors
Consensus
Lymph Node Excision
Surveys and Questionnaires
Surgeons
1 Citation (Scopus)

Ethanol activates immune response in lymphoblastoid cells

McClintick, J. N., Tischfield, J. A., Deng, L., Kapoor, M., Xuei, X. & Edenberg, H. J., Sep 2019, In : Alcohol. 79, p. 81-91 11 p.

Research output: Contribution to journalArticle

Ethanol
Alcoholics
alcoholism
Genes
Gene expression
1 Citation (Scopus)

Exploring the relationship between polygenic risk for cannabis use, peer cannabis use and the longitudinal course of cannabis involvement

Johnson, E. C., Tillman, R., Aliev, F., Meyers, J. L., Salvatore, J. E., Anokhin, A. P., Dick, D. M., Edenberg, H. J., Kramer, J. R., Kuperman, S., McCutcheon, V. V., Nurnberger, J. I., Porjesz, B., Schuckit, M. A., Tischfield, J., Bucholz, K. K. & Agrawal, A., Apr 2019, In : Addiction. 114, 4, p. 687-697 11 p.

Research output: Contribution to journalArticle

Cannabis
Odds Ratio
Genome-Wide Association Study
2 Citations (Scopus)

Fermi: A novel method for sensitive detection of rare mutations in somatic tissue

Alexander Liggett, L., Sharma, A., De, S. & DeGregori, J., Sep 1 2019, In : G3: Genes, Genomes, Genetics. 9, 9, p. 2977-2987 11 p.

Research output: Contribution to journalArticle

Open Access
Mutation
Leukemia
Clonal Evolution
Neoplasms
DNA Sequence Analysis

Fingerprinting cities: differentiating subway microbiome functionality

Zhu, C., Miller, M., Lusskin, N., Mahlich, Y., Wang, Y., Zeng, Z. & Bromberg, Y., Oct 30 2019, In : Biology direct. 14, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
Railroads
Subways
Fingerprinting
Microbiota
Functional analysis

Functional characterization of 84 PALB2 variants of uncertain significance

Wiltshire, T., Ducy, M., Foo, T. K., Hu, C., Lee, K. Y., Belur Nagaraj, A., Rodrigue, A., Gomes, T. T., Simard, J., Monteiro, A. N. A., Xia, B., Carvalho, M. A., Masson, J. Y. & Couch, F. J., Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

DNA Repair
Genetic Testing
Pancreatic Neoplasms
Cisplatin
DNA Damage
1 Citation (Scopus)

Function and clinical relevance of RHAMM isoforms in pancreatic tumor progression

Choi, S., Wang, D., Chen, X., Tang, L. H., Verma, A., Chen, Z., Kim, B. J., Selesner, L., Robzyk, K., Zhang, G., Pang, S., Han, T., Chan, C. S., Fahey, T. J., Elemento, O. & Du, Y. C. N., May 9 2019, In : Molecular Cancer. 18, 1, 92.

Research output: Contribution to journalArticle

Open Access
Hyaluronic Acid
Protein Isoforms
Neoplasms
Neoplasm Metastasis
Primitive Neuroectodermal Tumors
1 Citation (Scopus)

funtrp: identifying protein positions for variation driven functional tuning

Miller, M., Vitale, D., Kahn, P. C., Rost, B. & Bromberg, Y., Dec 2 2019, In : Nucleic acids research. 47, 21, p. e142

Research output: Contribution to journalArticle

Open Access
Proteins
Protein Stability
3 Citations (Scopus)

Genome-wide association studies of alcohol dependence, DSM-IV criterion count and individual criteria

Lai, D., Wetherill, L., Bertelsen, S., Carey, C. E., Kamarajan, C., Kapoor, M., Meyers, J. L., Anokhin, A. P., Bennett, D. A., Bucholz, K. K., Chang, K. K., De Jager, P. L., Dick, D. M., Hesselbrock, V., Kramer, J., Kuperman, S., Nurnberger, J. I., Raj, T., Schuckit, M., Scott, D. M. & 9 others, Taylor, R. E., Tischfield, J., Hariri, A. R., Edenberg, H. J., Agrawal, A., Bogdan, R., Porjesz, B., Goate, A. M. & Foroud, T., Jul 2019, In : Genes, Brain and Behavior. 18, 6, e12579.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Diagnostic and Statistical Manual of Mental Disorders
Alcoholism
Drinking
Meta-Analysis

Genome-wide association studies of the self-rating of effects of ethanol (SRE)

Lai, D., Wetherill, L., Kapoor, M., Johnson, E. C., Schwandt, M., Ramchandani, V. A., Goldman, D., Joslyn, G., Rao, X., Liu, Y., Farris, S., Mayfield, R. D., Dick, D., Hesselbrock, V., Kramer, J., McCutcheon, V. V., Nurnberger, J., Tischfield, J., Goate, A., Edenberg, H. J. & 4 others, Porjesz, B., Agrawal, A., Foroud, T. & Schuckit, M., Jan 1 2019, (Accepted/In press) In : Addiction Biology. 25, 2, e12800.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Alcoholism
Ethanol
Alcohols
Drinking
1 Citation (Scopus)

Genome-wide association study identifies loci associated with liability to alcohol and drug dependence that is associated with variability in reward-related ventral striatum activity in African- and European-Americans

Wetherill, L., Lai, D., Johnson, E. C., Anokhin, A., Bauer, L., Bucholz, K. K., Dick, D. M., Hariri, A. R., Hesselbrock, V., Kamarajan, C., Kramer, J., Kuperman, S., Meyers, J. L., Nurnberger, J. I., Schuckit, M., Scott, D. M., Taylor, R. E., Tischfield, J., Porjesz, B., Goate, A. M. & 4 others, Edenberg, H. J., Foroud, T., Bogdan, R. & Agrawal, A., Jul 2019, In : Genes, Brain and Behavior. 18, 6, e12580.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Reward
African Americans
Alcoholism
Substance-Related Disorders
3 Citations (Scopus)

Glycogen Synthase Kinase-3α Promotes Fatty Acid Uptake and Lipotoxic Cardiomyopathy

Nakamura, M., Liu, T., Husain, S., Zhai, P., Warren, J. S., Hsu, C. P., Matsuda, T., Phiel, C. J., Cox, J. E., Tian, B., Li, H. & Sadoshima, J., May 7 2019, In : Cell Metabolism. 29, 5, p. 1119-1134.e12

Research output: Contribution to journalArticle

Glycogen Synthase Kinase 3
Peroxisome Proliferator-Activated Receptors
Cardiomyopathies
Fatty Acids
Phosphorylation
7 Citations (Scopus)

Hippo Deficiency Leads to Cardiac Dysfunction Accompanied by Cardiomyocyte Dedifferentiation during Pressure Overload

Ikeda, S., Mizushima, W., Sciarretta, S., Abdellatif, M., Zhai, P., Mukai, R., Fefelova, N., Oka, S. I., Nakamura, M., Del Re, D. P., Farrance, I., Park, J. Y., Tian, B., Xie, L. H., Kumar, M., Hsu, C. P., Sadayappan, S., Shimokawa, H., Lim, D. S. & Sadoshima, J., Jan 18 2019, In : Circulation research. 124, 2, p. 292-305 14 p.

Research output: Contribution to journalArticle

Cardiac Myocytes
Pressure
Oncostatin M
Proteins
Oncostatin M Receptors

HNF4 factors control chromatin accessibility and are redundantly required for maturation of the fetal intestine

Chen, L., Toke, N. H., Luo, S., Vasoya, R. P., Aita, R., Parthasarathy, A., Tsai, Y. H., Spence, J. R. & Verzi, M. P., Jan 1 2019, In : Development (Cambridge). 146, 19, dev179432.

Research output: Contribution to journalArticle

Open Access
Hepatocyte Nuclear Factor 4
Chromatin
Intestines
Transcription Factors
Embryonic Structures
1 Citation (Scopus)

hnRNPC regulates cancer-specific alternative cleavage and polyadenylation profiles

Fischl, H., Neve, J., Wang, Z., Patel, R., Louey, A., Tian, B. & Furger, A., Aug 22 2019, In : Nucleic acids research. 47, 14, p. 7580-7591 12 p.

Research output: Contribution to journalArticle

Open Access
Polyadenylation
Neoplasms
Colonic Neoplasms
Protein Isoforms
RNA Isoforms
1 Citation (Scopus)

Homologous recombination DNA repair defects in PALB2-associated breast cancers

KConFab Investigators, Dec 1 2019, In : npj Breast Cancer. 5, 1, 23.

Research output: Contribution to journalArticle

Open Access
Recombinational DNA Repair
Breast Neoplasms
Loss of Heterozygosity
Homologous Recombination
Alleles
1 Citation (Scopus)

Identifying Crohn's disease signal from variome analysis

Wang, Y., Miller, M., Astrakhan, Y., Petersen, B. S., Schreiber, S., Franke, A. & Bromberg, Y., Sep 30 2019, In : Genome Medicine. 11, 1, 59.

Research output: Contribution to journalArticle

Open Access
Crohn Disease
Genes
Exome
Genome-Wide Association Study
Microbiota
2 Citations (Scopus)

Identifying mutation-driven changes in gene functionality that lead to venous thromboembolism

Wang, Y. & Bromberg, Y., Sep 1 2019, In : Human mutation. 40, 9, p. 1321-1329 9 p.

Research output: Contribution to journalArticle

Venous Thromboembolism
Mutation
Genes
Exome
African Americans

Integrative genomic characterization identifies molecular subtypes of lung carcinoids

Laddha, S. V., Da Silva, E. M., Robzyk, K., Untch, B. R., Ke, H., Rekhtman, N., Poirier, J. T., Travis, W. D., Tang, L. H. & Chan, C., Sep 1 2019, In : Cancer Research. 79, 17, p. 4339-4347 9 p.

Research output: Contribution to journalArticle

Carcinoid Tumor
Multiple Endocrine Neoplasia Type 1
DNA Methylation
Lung
Histone Code
7 Citations (Scopus)

Interrogating the genetic determinants of Tourette's syndrome and other tiC disorders through genome-wide association studies

Tourette Association of America International Consortium for Genetics, Gilles de la Tourette GWAS Replication Initiative, Tourette International Collaborative Genetics Study & Psychiatric Genomics Consortium Tourette Syndrome Working Group, Mar 2019, In : American Journal of Psychiatry. 176, 3, p. 217-227 11 p.

Research output: Contribution to journalArticle

Tic Disorders
Tourette Syndrome
Genome-Wide Association Study
Tics
Meta-Analysis
3 Citations (Scopus)

Management of asymptomatic, well-differentiated PNETs: results of the Delphi consensus process of the Americas Hepato-Pancreato-Biliary Association

Mansour, J. C., Chavin, K., Morris-Stiff, G., Warner, S. G., Cardona, K., Fong, Z. V., Maker, A., Libutti, S., Warren, R., St. Hill, C., Celinski, S., Newell, P., Ly, Q. P., Howe, J. & Coburn, N., May 1 2019, In : HPB. 21, 5, p. 515-523 9 p.

Research output: Contribution to journalArticle

Primitive Neuroectodermal Tumors
Biopsy
Neoplasms
Pancreatectomy
Splenectomy

Metabolic consequences of cystinuria

Woodard, L. E., Welch, R. C., Veach, R. A., Beckermann, T. M., Sha, F., Weinman, E. J., Ikizler, T. A., Tischfield, J. A., Sahota, A. & Wilson, M. H., Jun 20 2019, In : BMC Nephrology. 20, 1, 227.

Research output: Contribution to journalArticle

Open Access
Cystinuria
Glutathione
Cystine
Diet
Kidney
2 Citations (Scopus)

Narya, a RING finger domain-containing protein, is required for meiotic DNA double-strand break formation and crossover maturation in Drosophila melanogaster

Lake, C. M., Nielsen, R. J., Bonner, A. M., Eche, S., White-Brown, S., McKim, K. S. & Hawley, R. S., Jan 1 2019, In : PLoS genetics. 15, 1, e1007886.

Research output: Contribution to journalArticle

RING Finger Domains
Double-Stranded DNA Breaks
Drosophila melanogaster
maturation
DNA

Non-Genetic Intra-Tumor Heterogeneity Is a Major Predictor of Phenotypic Heterogeneity and Ongoing Evolutionary Dynamics in Lung Tumors

Sharma, A., Merritt, E., Hu, X., Cruz, A., Jiang, C., Sarkodie, H., Zhou, Z., Malhotra, J., Riedlinger, G. M. & De, S., Nov 19 2019, In : Cell Reports. 29, 8, p. 2164-2174.e5

Research output: Contribution to journalArticle

Open Access
Tumors
Lung
Neoplasms
Infiltration
Genetic Heterogeneity

O-GlcNAcylation alters the selection of mRNAs for translation and promotes 4E-BP1 dependent mitochondrial dysfunction in the retina

Dierschke, S. K., Miller, W. P., Favate, J. S., Shah, P., Kawasawa, Y. I., Salzberg, A. C., Kimball, S. R., Jefferson, L. S. & Dennis, M. D., Jan 1 2019, In : Journal of Biological Chemistry. 294, 14, p. 5508-5520 13 p.

Research output: Contribution to journalArticle

Protein Biosynthesis
Retina
Messenger RNA
Ribosomes
Eukaryotic Initiation Factors

Outcomes Following Major Oncologic Operations for Non-AIDS-Defining Cancers in the HIV Population: A Matched Comparison to the General Population

Chi, A., Adams, B. E., Sesti, J., Paul, S., Turner, A. L., August, D., Carpizo, D., Kennedy, T., Grandhi, M., Alexander, H. R., Libutti, S. K., Geffner, S. & Langan, R. C., Dec 1 2019, In : World Journal of Surgery. 43, 12, p. 3019-3026 8 p.

Research output: Contribution to journalArticle

HIV
Population
Neoplasms
Length of Stay
Logistic Models
1 Citation (Scopus)

Paf1C regulates RNA polymerase II progression by modulating elongation rate

Hou, L., Wang, Y., Liu, Y., Zhang, N., Shamovsky, I., Nudler, E., Tian, B. & Dynlacht, B. D., Jan 1 2019, In : Proceedings of the National Academy of Sciences of the United States of America. 116, 29, p. 14583-14592 10 p.

Research output: Contribution to journalArticle

Open Access
Peptide Elongation Factors
RNA Polymerase II
Body Regions
Nucleosomes
Ubiquitination
2 Citations (Scopus)

PALB2 connects BRCA1 and BRCA2 in the G2/M checkpoint response

Simhadri, S., Vincelli, G., Huo, Y., Misenko, S., Foo, T. K., Ahlskog, J., Sørensen, C. S., Oakley, G. G., Ganesan, S., Bunting, S. F. & Xia, B., Mar 7 2019, In : Oncogene. 38, 10, p. 1585-1596 12 p.

Research output: Contribution to journalArticle

Maintenance
Homologous Recombination
DNA Damage
M Phase Cell Cycle Checkpoints
Tumor Suppressor Proteins
2 Citations (Scopus)

Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5

Monzon, A. M., Carraro, M., Chiricosta, L., Reggiani, F., Han, J., Ozturk, K., Wang, Y., Miller, M., Bromberg, Y., Capriotti, E., Savojardo, C., Babbi, G., Martelli, P. L., Casadio, R., Katsonis, P., Lichtarge, O., Carter, H., Kousi, M., Katsanis, N., Andreoletti, G. & 5 others, Moult, J., Brenner, S. E., Ferrari, C., Leonardi, E. & Tosatto, S. C. E., Sep 1 2019, In : Human mutation. 40, 9, p. 1474-1485 12 p.

Research output: Contribution to journalArticle

Missense Mutation
Single Nucleotide Polymorphism
Schizophrenia
Proteins
Phenotype