John J. Connolly - Publications, H-index & Citations

John J. Connolly

children's hospital of philadelphia

35H指数

178论文数

6.4K被引数

收录论文 67

发表时间

Application of natural language processing to predict diagnosis and treatments for 540 pediatric diseases based on 85,087 Electronic health records 基于85,087份电子健康记录，应用自然语言处理预测540种儿科疾病的诊断与治疗方案

Biomedical Signal Processing and Control

IF4.9

2026-07-08

OAAI

Yichuan Liu; Frank D Mentch; John J Connolly; Hui-Qi Qu; Xiao Chang; Haijun Qiu; Kenny Nguyen; Joseph Glessner; Hakon Hakonarson

Unsupervised Deep Representation Learning and Probabilistic Clustering for the Systems-Level Discovery of Germline Mutation Signatures in Pediatric Cancers 基于无监督深度表示学习和概率聚类的儿童癌症体细胞突变签名系统级发现

Biomedicines

IF3.9

2026-06-25

OAAI

Fahimeh Palizban; Michael E. March; Xiang Wang; James Snyder; Fengxiang Wang; Frank Mentch; Yeshwanth Mahesh; Alexandria Thomas; Deborah J. Watson; Huiqi Qu; John Connolly; Amir Hossein Saeidian; Hassan Vahidnezhad; Joseph Glessner; Hakon Hakonarson

Navigating data sharing in research 在研究中进行数据共享

The American Journal of Human Genetics

IF0

2026-04-29

OAAI

Anna C.F. Lewis; Ellen W. Clayton; Hana Bangash; Harris T. Bland; Katherine E. Bonini; James J. Cimino; John J. Connolly; Robert R. Freimuth; Stephanie M. Fullerton; Hakon Hakonarson; Ingrid A. Holm; Gail P. Jarvik; Atlas Khan; Krzysztof Kiryluk; Jodell E. Linder; Yuan Luo; John A. Lynch; Kathleen F. Mittendorf; Jennifer A. Pacheco; Luke V. Rasmussen

Circulating amino acids and Type 2 diabetes in a Latin American population-based cohort 循环氨基酸与拉丁美洲人群为基础的队列中的2型糖尿病

Cardiovascular Diabetology

IF10.6

2026-03-26

OAAI

Laura Huidobro; Laura Huidobro; Sebastián Cofre; José L. Santos; Franco Godoy; Fabio Paredes; Claudia Bambs; Sandra Cortés; John Connolly; Hui-Qi Qu; Hakon Hakonarson; Catterina Ferreccio

Metabolic remodeling and the modulatory role of vitamin D deficiency in African American children and adolescents with obesity 非裔美国肥胖儿童和青少年的代谢重塑和维生素d缺乏的调节作用

International Journal of Obesity

IF3.8

2026-01-12

OAAI

Hui-Qi Qu; John J. Connolly; Frank Mentch; Joseph Glessner; Hakon Hakonarson

The International Health Cohorts Consortium (IHCC) advances population health research and genomic discovery 国际健康队列联盟（IHCC）推动人群健康研究和基因组发现

Communications Medicine

IF6.3

2025-08-21

OAAI

John J. Connolly; Scott Sundseth; Grant M. Wood; Chisom Nwaneri; Geoffrey Ginsburg; Philip Awadalla; Michele Ramsay; Thomas Keane; Peter Goodhand; Adam S. Butterworth; Hakon Hakonarson

Single-Cell RNA Sequencing of Peripheral Blood Mononuclear Cells in Patients With Single Ventricle/Hypoplastic Left Heart Syndrome 单细胞RNA测序在单心室/左心发育不良综合征患者外周血单核细胞中的应用

gene medicine

IF0

2025-08-19

OAAI

Hui-Qi Qu; Kayleigh Ostberg; Diana J. Slater; Fengxiang Wang; James Snyder; Cuiping Hou; John J. Connolly; Michael March; Joseph T. Glessner; Charlly Kao; Hakon Hakonarson

Covering medical care costs for participants in the eMERGE Network: Challenges for equity and implementation 为eMERGE Network参与者的医疗保健费用提供覆盖：公平性与实施方面的挑战

Genetics in Medicine

IF6.2

2025-05-16

PREAI

Laura J. Rasmussen-Torvik; Katherine E. Bonini; Margaret H. Harr; Mohammad Ali Abbass; Hana Bangash; Harris T. Bland; Brenna M. Boyd; Wendy K. Chung; Ellen W. Clayton; Stuart J. Cohen; John J. Connolly; Catherine Gascoigne; Valentina Hernandez; Ingrid A. Holm; Martha Horike-Pyne; Gail P. Jarvik; Elizabeth W. Karlson; Iftikhar J. Kullo; Nita A. Limdi; Mary E. Maradik; Maya Sabatello

Training decision making in sports using virtual reality: a scoping review 使用虚拟现实训练体育决策能力：一项范围综述

International Review of Sport and Exercise Psychology

IF6.7

2025-04-16

OAAI

John Connolly; David Alder; Malcolm Frame; Andrew D. Wilson

Risk of Alzheimer's disease in Down syndrome: Insights gained by multi-omics 唐氏综合征患者罹患阿尔茨海默病风险：多组学研究所获见解

ALZHEIMERS & DEMENTIA

IF11.1

2025-04-10

OAAI

Qu, HQ; Liu, YC; Connolly, JJ; Mentch, FD; Kao, C; Hakonarson, H

Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups 全基因组荟萃分析识别出子宫肌瘤在多个祖先血统群体内部及跨群体中的新型风险位点

NATURE COMMUNICATIONS

IF15.7

2025-03-06

OAAI

Kim, Jeewoo; Williams, Ariel; Noh, Hannah; Jasper, Elizabeth A.; Jones, Sarah H.; Jaworski, James A.; Shuey, Megan M.; Ruiz-Narvaez, Edward A.; Wise, Lauren A.; Palmer, Julie R.; Connolly, John; Keaton, Jacob M.; Denny, Joshua C.; Khan, Atlas; Abbass, Mohammad A.; Rasmussen-Torvik, Laura J.; Kottyan, Leah C.; Madhivanan, Purnima; Krupp, Karl; Wei, Wei-Qi; Edwards, Todd L.; Hellwege, Jacklyn N.

Correspondence on Weighty matters: Considering the ethics of genetic risk scores for obesity by C. Houtz 重要事项往来函：C. Houtz撰写的《关于肥胖遗传风险评分的伦理考量》

GENETICS IN MEDICINE

IF6.2

2024-11-01

PREAI

Connolly, John J.; Hess, Molly; Maripuri, Priyanka; Terek, Shannon; Purcell, Jasmine; Harr, Margaret H.; Mentch, Frank D.; Glessner, Joseph T.; Shah, Rachana; Prows, Cindy A.; Karavite, Dean J.; Thayer, Jeritt G.; Grundmeier, Robert W.

Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network 管理跨组多基因风险评分的差异表现: eMERGE网络的现实经验

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-06-01

PREAI

Lewis, Anna C. F.; Chisholm, Rex L.; Connolly, John J.; Esplin, Edward D.; Glessner, Joe; Gordon, Adam; Green, Robert C.; Hakonarson, Hakon; Harr, Margaret; Holm, Ingrid A.; Jarvik, Gail P.; Karlson, Elizabeth; Kenny, Eimear E.; Kottyan, Leah; Lennon, Niall; Linder, Jodell E.; Luo, Yuan; Martin, Lisa J.; Perez, Emma; Puckelwartz, Megan J.; Rasmussen-Torvik, Laura J.; Sabatello, Maya; Sharp, Richard R.; Smoller, Jordan W.; Sterling, Rene; Terek, Shannon; Wei, Wei-Qi; Fullerton, Stephanie M.

High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations 出生缺陷患者中儿童癌症的高合并症: 来自拷贝数变异的全基因组测序分析的见解

TRANSLATIONAL RESEARCH

IF5.9

2024-04-01

PREAI

Qu, Hui-Qi; Glessner, Joseph T.; Qu, Jingchun; Liu, Yichuan; Watson, Deborah; Chang, Xiao; Saeidian, Amir Hossein; Qiu, Haijun; Mentch, Frank; Connolly, John J.; Kakoharson, Hakon

Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations 十种慢性病多基因风险评分的选择，优化和验证，以在美国不同人群中进行临床实施

NATURE MEDICINE

IF50

2024-02-19

OAAI

Lennon, Niall J.; Kottyan, Leah C.; Kachulis, Christopher; Abul-Husn, Noura S.; Arias, Josh; Belbin, Gillian; Below, Jennifer E.; Berndt, Sonja I.; Chung, Wendy K.; Cimino, James J.; Clayton, Ellen Wright; Connolly, John J.; Crosslin, David R.; Dikilitas, Ozan; Edwards, Digna R. Velez; Feng, Qiping; Fisher, Marissa; Freimuth, Robert R.; Ge, Tian; Berndt, Sonja; Hirschhorn, Joel; Loos, Ruth; Glessner, Joseph T.; Gordon, Adam S.; Patterson, Candace; Hakonarson, Hakon; Harden, Maegan; Harr, Margaret; Hirschhorn, Joel N.; Hoggart, Clive; Hsu, Li; Irvin, Marguerite R.; Jarvik, Gail P.; Karlson, Elizabeth W.; Khan, Atlas; Khera, Amit; Kiryluk, Krzysztof; Kullo, Iftikhar; Larkin, Katie; Limdi, Nita; Linder, Jodell E.; Loos, Ruth J. F.; Luo, Yuan; Malolepsza, Edyta; Manolio, Teri A.; Martin, Lisa J.; Mccarthy, Li; Mcnally, Elizabeth M.; Meigs, James B.; Mersha, Tesfaye B.; Mosley, Jonathan D.; Musick, Anjene; Namjou, Bahram; Pai, Nihal; Pesce, Lorenzo L.; Peters, Ulrike; Peterson, Josh F.; Prows, Cynthia A.; Puckelwartz, Megan J.; Rehm, Heidi L.; Roden, Dan M.; Rosenthal, Elisabeth A.; Rowley, Robb; Sawicki, Konrad Teodor; Schaid, Daniel J.; Smit, Roelof A. J.; Smith, Johanna L.; Smoller, Jordan W.; Thomas, Minta; Tiwari, Hemant; Toledo, Diana M.; Vaitinadin, Nataraja Sarma; Veenstra, David; Walunas, Theresa L.; Wang, Zhe; Wei, Wei-Qi; Weng, Chunhua; Wiesner, Georgia L.; Yin, Xianyong; Kenny, Eimear E.

Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection (vol 13, 18532, 2023)

SCIENTIFIC REPORTS

IF3.9

2023-11-15

OAAI

Ferar, Kathleen; Hall, Taryn O.; Crawford, Dana C.; Rowley, Robb; Satterfield, Benjamin A.; Li, Rongling; Gragert, Loren; Karlson, Elizabeth W.; de Andrade, Mariza; Kullo, Iftikhar J.; McCarty, Catherine A.; Kho, Abel; Hayes, M. Geoffrey; Ritchie, Marylyn D.; Crane, Paul K.; Mirel, Daniel B.; Carlson, Christopher; Connolly, John J.; Hakonarson, Hakon; Crenshaw, Andrew T.; Carrell, David; Luo, Yuan; Dikilitas, Ozan; Denny, Joshua C.; Jarvik, Gail P.; Crosslin, David R.

Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing 临床测序可采取的单基因结果后医疗保健利用的前瞻性，多站点研究

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-11-01

OAAI

Linder, Jodell E.; Tao, Ran; Chung, Wendy K.; Kiryluk, Krzysztof; Liu, Cong; Weng, Chunhua; Connolly, John J.; Hakonarson, Hakon; Harr, Margaret; Leppig, Kathleen A.; Jarvik, Gail P.; Veenstra, David L.; Aufox, Sharon; Chisholm, Rex L.; Gordon, Adam S.; Hoell, Christin; Rasmussen-Torvik, Laura J.; Smith, Maureen E.; Holm, Ingrid A.; Miller, Erin M.; Prows, Cynthia A.; Elskeally, Omar; Kullo, Iftikhar J.; Lee, Christopher; Jose, Sheethal; Manolio, Teri A.; Rowley, Robb; Padi-Adjirackor, Nana Addo; Wilmayani, Ni Ketut; City, Brittany; Wei, Wei-Qi; Wiesner, Georgia L.; Rahm, Alanna Kulchak; Williams, Janet L.; Williams, Marc S.; Peterson, Josh F.

Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection

SCIENTIFIC REPORTS

IF3.9

2023-10-28

OAAI

Ferar, Kathleen; Hall, Taryn O.; Crawford, Dana C.; Rowley, Robb; Satterfield, Benjamin A.; Li, Rongling; Gragert, Loren; Karlson, Elizabeth W.; de Andrade, Mariza; Kullo, Iftikhar J.; Mccarty, Catherine A.; Kho, Abel; Hayes, M. Geoffrey; Ritchie, Marylyn D.; Crane, Paul K.; Mirel, Daniel B.; Carlson, Christopher; Connolly, John J.; Hakonarson, Hakon; Crenshaw, Andrew T.; Carrell, David; Luo, Yuan; Dikilitas, Ozan; Denny, Joshua C.; Jarvik, Gail P.; Crosslin, David R.

Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores 教育和电子病历和基因组学网络，挑战和从使用多基因风险评分的大规模临床试验中吸取的教训

GENETICS IN MEDICINE

IF6.2

2023-09-01

OAAI

Connolly, John J.; Berner, Eta S.; Smith, Maureen; Levy, Samuel; Terek, Shannon; Harr, Margaret; Karavite, Dean; Suckiel, Sabrina; Holm, Ingrid A.; Dufendach, Kevin; Nelson, Catrina; Khan, Atlas; Chisholm, Rex L.; Allworth, Aimee; Wei, Wei-Qi; Bland, Harris T.; Clayton, Ellen Wright; Soper, Emily R.; Linder, Jodell E.; Limdi, Nita A.; Miller, Alexandra; Nigbur, Scott; Bangash, Hana; Hamed, Marwan; Sherafati, Alborz; Lewis, Anna C. F.; Perez, Emma; Orlando, Lori A.; Rakhra-Burris, Tejinder K.; Al-Dulaimi, Mustafa; Cifric, Selma; Scherr, Courtney Lynam; Wynn, Julia; Hakonarson, Hakon; Sabatello, Maya

Trans-ethnic genomic informed risk assessment for Alzheimer's disease: An International Hundred K plus Cohorts Consortium study

ALZHEIMERS & DEMENTIA

IF11.1

2023-07-14

OAAI

Sleiman, Patrick M.; Qu, Hui-Qi; Connolly, John J.; Mentch, Frank; Pereira, Alexandre; Lotufo, Paulo A.; Tollman, Stephen; Choudhury, Ananyo; Ramsay, Michele; Kato, Norihiro; Ozaki, Kouichi; Mitsumori, Risa; Jeon, Jae-Pil; Hong, Chang Hyung; Son, Sang Joon; Roh, Hyun Woong; Lee, Dong-gi; Mukadam, Naaheed; Foote, Isabelle F.; Marshall, Charles R.; Butterworth, Adam; Prins, Bram P.; Glessner, Joseph T.; Hakonarson, Hakon

研究方向