Rini Pauly - Publications, H-index & Citations

Rini Pauly

Greenwood Genetic Center

11H指数

80论文数

583被引数

收录论文 21

发表时间

Behavioral Features in Phelan–McDermid Syndrome: Characteristics and Genetic and Metabolic Contributions in a Cohort of 56 Individuals Phelan-McDermid综合征的行为特征: 56个人的特征以及遗传和代谢贡献

Genes

IF2.8

2026-02-09

OAAI

Emily Payne; Bridgette A. Moffitt; Lindsay M. Oberman; Laura Beamer; Sujata Srikanth; Lauren Nicole Cascio; Kelly Jones; Lavanya Jain; Rini Pauly; Melanie May; Cindy Skinner; Carrie Buchanan; Barbara G. DuPont; Rebekah R. Martin; R. Curtis Rogers; Katy Phelan; Sara M. Sarasua; Walter E. Kaufmann; Luigi Boccuto

Insights into gemcitabine resistance in pancreatic cancer: association with metabolic reprogramming and TP53 pathogenicity in patient derived xenografts

JOURNAL OF TRANSLATIONAL MEDICINE

IF7.5

2024-08-05

OAAI

Konate, Mariam M.; Krushkal, Julia; Li, Ming-Chung; Chen, Li; Kotliarov, Yuri; Palmisano, Alida; Pauly, Rini; Xie, Qian; Williams, P. Mickey; McShane, Lisa M.; Zhao, Yingdong

Enrichment of a subset of Neanderthal polymorphisms in autistic probands and siblings

MOLECULAR PSYCHIATRY

IF10.1

2024-05-17

OAAI

Pauly, Rini; Johnson, Layla; Feltus, F. Alex; Casanova, Emily L.

Cholangiocarcinoma patient-derived models in the NCI Patient-Derived Models Repository

CANCER RESEARCH

IF16.6

2024-03-22

PREAI

Evrard, Yvonne A.; Timme, Cindy R.; Das, Biswajit; Bliss, Gareth; Bonomi, Carrie; Border, Carley; Chang, Ting-Chia; Chen, Alice; Chen, Li; Crespo-Eugeni, Michelle A.; Cooper, Kevin; Czarra, Natalie; Czernia, Isabella; Dougherty, Kelly; Gibson, Marion; Grinnage-Pulley, Tara; Jiwani, Shahanawaz; Kalmbach, Keegan; Karlovich, Chris A.; McGlynn, Chelsea; Mullendore, Michael; Murphy, Matthew; Pauly, Rini; Plater, Kevin; Steed, Jessica; Stockwin, Luke; Uzelac, Shannon; Wu, Peter I-Fan; Newton, Dianne L.; Williams, P. Mickey; Hollingshead, Melinda G.; Doroshow, James H.

Expanding reported molecular characteristics for the NCI Patient-Derived Models Repository

CANCER RESEARCH

IF16.6

2024-03-22

PREAI

Timme, Cindy R.; Evrard, Yvonne A.; Das, Biswajit; Chang, Ting-Chia; Chen, Alice; Chen, Li; Crespo-Eugeni, Michelle A.; Jiwani, Shahanawaz; Karlovich, Chris A.; Pauly, Rini; Wu, Peter I-Fan; Newton, Dianne L.; Williams, P. Mickey; Hollingshead, Melinda G.; Doroshow, James H.

Genomic landscape and stability of preclinical models in NCI's patient-derived models repository

CANCER RESEARCH

IF16.6

2024-03-22

PREAI

Chang, Ting-Chia; Das, Biswajit; Chen, Li; Wu, Peter I-Fan; Evrard, Yvonne A.; Pauly, Rini; Newton, Dianne L.; Jiwani, Shahanawaz; Alcoser, Sergio Y.; Stockwin, Luke H.; Camalier, Corinne E.; Forbes, Tomas; Nair, Nikitha; Chapman, Alyssa; Dutko, Lindsay; Mullendore, Michael; Grinnage-Pulley, Tara; Klarmann, Kimberly; Miller, Sarah B.; Karlovich, Chris A.; Chen, Alice P.; Williams, P. Mickey; Hollingshead, Melinda G.; Doroshow, James H.

Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders

HUMAN MOLECULAR GENETICS

IF3.2

2022-12-02

PREAI

Cooley Coleman, Jessica A.; Gass, Jennifer M.; Srikanth, Sujata; Pauly, Rini; Ziats, Catherine A.; Everman, David B.; Skinner, Steven A.; Bell, Shannon; Louie, Raymond J.; Cascio, Lauren; Patterson, Wesley G.; Jones, Julie R.; Di Donato, Nataliya; Stevenson, Roger E.; Boccuto, Luigi

Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors

NPJ PRECISION ONCOLOGY

IF8

2022-09-06

OAAI

Bonner, Erin R.; Harrington, Robin; Eze, Augustine; Bornhorst, Miriam; Kline, Cassie N.; Gordish-Dressman, Heather; Dawood, Adam; Das, Biswajit; Chen, Li; Pauly, Rini; Williams, P. Mickey; Karlovich, Chris; Peach, Amanda; Howell, D'andra; Doroshow, James; Kilburn, Lindsay; Packer, Roger J.; Mueller, Sabine; Nazarian, Javad

Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS

IF2.8

2022-06-23

OAAI

Hickman, Allison R.; Selee, Bradley; Pauly, Rini; Husain, Benafsh; Hang, Yuqing; Feltus, Frank Alex

Identification of condition-specific regulatory mechanisms in normal and cancerous human lung tissue

BMC GENOMICS

IF3.7

2022-05-06

OAAI

Hang, Yuqing; Burns, Josh; Shealy, Benjamin T.; Pauly, Rini; Ficklin, Stephen P.; Feltus, Frank A.

Comparative single cell transcriptome profiling of primary tumors, CTCs and metastatic sites from a bladder cancer PDX model

MOLECULAR CANCER THERAPEUTICS

IF5.5

2021-12-01

PREAI

Vilimas, Tomas; Fullmer, Brandie; Chapman, Alyssa; Chen, Li; Chang, Ting-Chia; Pauly, Rini; Das, Biswajit; Karlovich, Chris; Evrard, Yvonne A.; Stotler, Howard; Gottholm-Ahalt, Michelle M.; Grinnage-Pulley, Tara; Hollingshead, Melinda G.; Doroshow, James H.; Williams, P. Mickey

Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations

METABOLIC BRAIN DISEASE

IF3.5

2021-03-04

PREAI

Zarate, Yuri A.; Orsell, Jenny-Li; Bosanko, Katherine; Srikanth, Sujata; Cascio, Lauren; Pauly, Rini; Boccuto, Luigi

DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome

CLINICAL EPIGENETICS

IF4.4

2021-01-06

OAAI

Schenkel, L. C.; Aref-Eshghi, E.; Rooney, K.; Kerkhof, J.; Levy, M. A.; McConkey, H.; Rogers, R. C.; Phelan, K.; Sarasua, S. M.; Jain, L.; Pauly, R.; Boccuto, L.; DuPont, B.; Cappuccio, G.; Brunetti-Pierri, N.; Schwartz, C. E.; Sadikovic, B.

Neural Tube Defects and Associated Anomalies before and after Folic Acid Fortification

JOURNAL OF PEDIATRICS

IF3.5

2020-11-01

PREAI

Dean, Jane H.; Pauly, Rini; Stevenson, Roger E.

Autistic Disorder: A 20 Year Chronicle

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS

IF2.8

2020-06-26

PREAI

Skinner, Cindy; Pauly, Rini; Skinner, Steven A.; Schroer, Richard J.; Simensen, Richard J.; Taylor, Harold A.; Friez, Michael J.; DuPont, Barbara R.; Stevenson, Roger E.

Genome-scale network model of metabolism and histone acetylation reveals metabolic dependencies of histone deacetylase inhibitors

GENOME BIOLOGY

IF9.4

2019-03-01

OAAI

Shen, Fangzhou; Boccuto, Luigi; Pauly, Rini; Srikanth, Sujata; Chandrasekaran, Sriram

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome (vol 8, 2017)

NATURE COMMUNICATIONS

IF15.7

2018-01-18

OAAI

Li, Chong; Brazill, Jennifer M.; Liu, Sha; Bello, Christofer; Zhu, Yi; Morimoto, Marie; Cascio, Lauren; Pauly, Rini; Diaz-Perez, Zoraida; Malicdan, May Christine V.; Wang, Hongbo; Boccuto, Luigi; Schwartz, Charles E.; Gahl, William A.; Boerkoel, Cornelius F.; Zhai, R. Grace

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

NATURE COMMUNICATIONS

IF15.7

2017-11-02

OAAI

Gene integrated set profile analysis: a context-based approach for inferring biological endpoints

NUCLEIC ACIDS RESEARCH

IF13.1

2016-01-29

OAAI

Kowalski, Jeanne; Dwivedi, Bhakti; Newman, Scott; Switchenko, Jeffery M.; Pauly, Rini; Gutman, David A.; Arora, Jyoti; Gandhi, Khanjan; Ainslie, Kylie; Doho, Gregory; Qin, Zhaohui; Moreno, Carlos S.; Rossi, Michael R.; Vertino, Paula M.; Lonial, Sagar; Bernal-Mizrachi, Leon; Boise, Lawrence H.

Farewell to GBM-O: Genomic and transcriptomic profiling of glioblastoma with oligodendroglioma component reveals distinct molecular subgroups

ACTA NEUROPATHOLOGICA COMMUNICATIONS

IF5.7

2016-01-13

OAAI

Hinrichs, Benjamin H.; Newman, Scott; Appin, Christina L.; Dunn, William; Cooper, Lee; Pauly, Rini; Kowalski, Jeanne; Rossi, Michael R.; Brat, Daniel J.

研究方向