Josep M. Mercader - Publications, H-index & Citations

Josep M. Mercader

harvard medical school

61H指数

313论文数

2.0W被引数

收录论文 103

发表时间

Genotype-First Characterization of Familial Hypocalciuric Hypercalcemia Type 1: Prevalence, Serum Calcium and Clinical Associations 家族性低钙尿性高钙血症1型的基因型优先表征：患病率、血清钙和临床关联

Journal of Bone and Mineral Research

IF5.9

2026-08-25

PREAI

Nipith Charoenngam; Alicia Huerta-Chagoya; Sarah Hsu; Maheak Vora; Josep M Mercader; Miriam S Udler; Michael Mannstadt

Unravelling the molecular mechanisms causal to type 2 diabetes across global populations and disease-relevant tissues 揭示全球人群和疾病相关组织中2型糖尿病的分子机制

Nature Metabolism

IF20.8

2026-01-27

OAAI

Ozvan Bocher; Ana Luiza Arruda; Satoshi Yoshiji; Chi Zhao; Alicia Huerta-Chagoya; Chen-Yang Su; Xianyong Yin; Davis Cammann; Henry J. Taylor; Jingchun Chen; Ken Suzuki; Ravi Mandla; Ta-Yu Yang; Fumihiko Matsuda; Josep M. Mercader; Jason Flannick; James B. Meigs; Alexis C. Wood; Marijana Vujkovic; Benjamin F. Voight; Cassandra N. Spracklen; Jerome I. Rotter; Andrew P. Morris; Eleftheria Zeggini

The effect of type 2 diabetes genetic predisposition on non-cardiovascular comorbidities 2型糖尿病遗传易感性对非心血管合并症的影响

Nature Communications

IF15.7

2025-10-10

OAAI

Ana Luiza Arruda; Ozvan Bocher; Henry J. Taylor; Davis Cammann; Satoshi Yoshiji; Xianyong Yin; Chi Zhao; Jingchun Chen; Alexis C. Wood; Ken Suzuki; Josep M. Mercader; Cassandra N. Spracklen; James B. Meigs; Marijana Vujkovic; George Davey Smith; Jerome I. Rotter; Benjamin F. Voight; Andrew P. Morris; Eleftheria Zeggini

Identification of novel type 1 and type 2 diabetes genes by co-localization of human islet eQTL and GWAS variants with colocRedRibbon 通过co-localization方法（使用co-localization of human islet eQTL and GWAS variants with colocRedRibbon）鉴定新型1型糖尿病和2型糖尿病基因

Cell Genomics

IF9

2025-09-16

OAAI

Anthony Piron; Florian Szymczak; Lise Folon; Daniel J.M. Crouch; Theodora Papadopoulou; Maria Lytrivi; Yue Tong; Maria Inês Alvelos; Maikel L. Colli; Xiaoyan Yi; Marcin L. Pekalski; Konstantinos Hatzikotoulas; Alicia Huerta-Chagoya; Henry J. Taylor; Matthieu Defrance; John A. Todd; Décio L. Eizirik; Josep M. Mercader; Miriam Cnop

Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes (vol 56, pg 2370, 2024)在51,256例2型糖尿病病例和370,487例对照中的稀有变异分析揭示了单基因糖尿病基因的致病性谱系（vol 56, pg 2370, 2024）

NATURE GENETICS

IF0

2025-03-25

OAAI

Huerta-Chagoya, Alicia; Schroeder, Philip; Mandla, Ravi; Li, Jiang; Morris, Lowri; Vora, Maheak; Alkanaq, Ahmed; Nagy, Dorka; Szczerbinski, Lukasz; Madsen, Jesper G. S.; Bonas-Guarch, Silvia; Mollandin, Fanny; Cole, Joanne B.; Porneala, Bianca; Westerman, Kenneth; Li, Josephine H.; Pollin, Toni I.; Florez, Jose C.; Gloyn, Anna L.; Carey, David J.; Cebola, Ines; Mirshahi, Uyenlinh L.; Manning, Alisa K.; Leong, Aaron; Udler, Miriam; Mercader, Josep M.

The PRIMED Consortium: Reducing disparities in polygenic risk assessment PRIMED联盟: 减少多基因风险评估中的差异

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-12-01

OAAI

Kullo, Iftikhar J.; Conomos, Matthew P.; Nelson, Sarah C.; Adebamowo, Sally N.; Choudhury, Ananyo; Conti, David; Fullerton, Stephanie M.; Gogarten, Stephanie M.; Heavner, Ben; Hornsby, Whitney E.; Kenny, Eimear E.; Khan, Alyna; Khera, Amit V.; Li, Yun; Martin, Iman; Mercader, Josep M.; Ng, Maggie; Raffield, Laura M.; Reiner, Alex; Rowley, Robb; Schaid, Daniel; Stilp, Adrienne; Wiley, Ken; Wilson, Riley; Witte, John S.; Natarajan, Pradeep

Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes (vol 56, pg 2370, 2024)在51,256例2型糖尿病病例和370,487例对照中的罕见变异分析揭示了单基因糖尿病基因的致病性谱系（vol 56, pg 2370, 2024）

NATURE GENETICS

IF0

2024-10-22

OAAI

Adaptive selection at G6PD and disparities in diabetes complications G6PD的适应性选择和糖尿病并发症的差异

NATURE MEDICINE

IF50

2024-06-25

PREAI

Breeyear, Joseph H.; Hellwege, Jacklyn N.; Schroeder, Philip H.; House, John S.; Poisner, Hannah M.; Mitchell, Sabrina L.; Charest, Brian; Khakharia, Anjali; Basnet, Til B.; Halladay, Christopher W.; Reaven, Peter D.; Meigs, James B.; Rhee, Mary K.; Sun, Yang; Lynch, Mary G.; Bick, Alexander G.; Wilson, Otis D.; Hung, Adriana M.; Nealon, Cari L.; Iyengar, Sudha K.; Rotroff, Daniel M.; Buse, John B.; Leong, Aaron; Mercader, Josep M.; Sobrin, Lucia; Brantley Jr, Milam A.; Peachey, Neal S.; Motsinger-Reif, Alison A.; Wilson, Peter W.; Sun, Yan V.; Giri, Ayush; Phillips, Lawrence S.; Edwards, Todd L.

A Mutation Causing Glucose-6-Phosphate Dehydrogenase Deficiency Increases the Risk of Diabetes Complications in Men with African Ancestry

DIABETES

IF7.5

2024-06-14

PREAI

Breeyear, Joseph H.; Hellwege, Jacklyn; House, John S.; Mitchell, Sabrina L.; Charest, Brian; Basnet, Til B.; Reaven, Peter; Meigs, James B.; Rhee, Mary K.; Sun, Yang; Wilson, Otis; Hung, Adriana M.; Iyengar, Sudha K.; Rotroff, Daniel M.; Buse, John B.; Leong, Aaron; Mercader, Josep M.; Brantley, Milam; Peachey, Neal S.; Motsinger-Reif, Alison; Wilson, Peter W.; Sun, Yan; Giri, Ayush; Phillips, Lawrence S.; Edwards, Todd L.

Common Variant Polygenic Risk Score Influences Penetrance of Rare Variants in Monogenic Diabetes Genes

DIABETES

IF7.5

2024-06-14

PREAI

Huerta, Alicia; Mandla, Ravi; Nagy, Dorka; Szczerbinski, Lukasz; Madsen, Jesper G. S.; Cole, Joanne B.; Porneala, Bianca; Westerman, Kenneth E.; Li, Josephine H.; Pollin, Toni I.; Florez, Jose C.; Gloyn, Anna L.; Cebola, Ines; Manning, Alisa; Leong, Aaron; Udler, Miriam; Mercader, Josep M.

Dissecting Ancestry-Aware Molecular Causal Paths of Type 2 Diabetes

DIABETES

IF7.5

2024-06-14

PREAI

Yoshiji, Satoshi; Bocher, Ozvan; Arruda, Ana Luiza; Yin, Xianyong; Cammann, Davis B.; Zhao, Chi; Taylor, Henry J.; Chen, Jingchun; Mandla, Ravi; Huerta, Alicia; Yang, Ta-Yu; Wood, Alexis; Lorenz, Kimberly; Matsuda, Fumihiko; Flannick, Jason; Mercader, Josep M.; Spracklen, Cassandra N.; Meigs, James B.; Rotter, Jerome I.; Vujkovic, Marijana; Voight, Benjamin F.; Morris, Andrew; Zeggini, Eleftheria

Multi-ancestry polygenic mechanisms of type 2 diabetes (vol 30, pg 1065, 2024)

NATURE MEDICINE

IF50

2024-05-17

OAAI

Smith, Kirk; Deutsch, Aaron J.; McGrail, Carolyn; Kim, Hyunkyung; Hsu, Sarah; Huerta-Chagoya, Alicia; Mandla, Ravi; Schroeder, Philip H.; Westerman, Kenneth E.; Szczerbinski, Lukasz; Majarian, Timothy D.; Kaur, Varinderpal; Williamson, Alice; Zaitlen, Noah; Claussnitzer, Melina; Florez, Jose C.; Manning, Alisa K.; Mercader, Josep M.; Gaulton, Kyle J.; Udler, Miriam S.

Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People With Type 2 Diabetes 2型糖尿病患者发生心血管疾病的时间-事件全基因组关联研究

DIABETES CARE

IF16.6

2024-04-23

OAAI

Kwak, Soo Heon; Hernandez-Cancela, Ryan B.; DiCorpo, Daniel A.; Condon, David E.; Merino, Jordi; Wu, Peitao; Brody, Jennifer A.; Yao, Jie; Guo, Xiuqing; Ahmadizar, Fariba; Meyer, Mariah; Sincan, Murat; Mercader, Josep M.; Lee, Sujin; Haessler, Jeffrey; Vy, Ha My T.; Lin, Zhaotong; Armstrong, Nicole D.; Gu, Shaopeng; Tsao, Noah L.; Lange, Leslie A.; Wang, Ningyuan; Wiggins, Kerri L.; Trompet, Stella; Liu, Simin; Loos, Ruth J. F.; Judy, Renae; Schroeder, Philip H.; Hasbani, Natalie R.; Bos, Maxime M.; Morrison, Alanna C.; Jackson, Rebecca D.; Reiner, Alexander P.; Manson, JoAnn E.; Chaudhary, Ninad S.; Carmichael, Lynn K.; Chen, Yii-Der Ida; Taylor, Kent D.; Ghanbari, Mohsen; van Meurs, Joyce; Pitsillides, Achilleas N.; Psaty, Bruce M.; Noordam, Raymond; Do, Ron; Park, Kyong Soo; Jukema, J. Wouter; Kavousi, Maryam; Correa, Adolfo; Rich, Stephen S.; Damrauer, Scott M.; Hajek, Catherine; Cho, Nam H.; Irvin, Marguerite R.; Pankow, James S.; Nadkarni, Girish N.; Sladek, Robert; Goodarzi, Mark O.; Florez, Jose C.; Chasman, Daniel I.; Heckbert, Susan R.; Kooperberg, Charles; Dupuis, Josee; Malhotra, Rajeev; de Vries, Paul S.; Liu, Ching-Ti; Rotter, Jerome I.; Meigs, James B.

Multi-ancestry polygenic mechanisms of type 2 diabetes

NATURE MEDICINE

IF50

2024-03-05

OAAI

Smith, Kirk; Deutsch, Aaron J.; Mcgrail, Carolyn; Kim, Hyunkyung; Hsu, Sarah; Huerta-Chagoya, Alicia; Mandla, Ravi; Schroeder, Philip H.; Westerman, Kenneth E.; Szczerbinski, Lukasz; Majarian, Timothy D.; Kaur, Varinderpal; Williamson, Alice; Zaitlen, Noah; Claussnitzer, Melina; Florez, Jose C.; Manning, Alisa K.; Mercader, Josep M.; Gaulton, Kyle J.; Udler, Miriam S.

Identification of Genetic Variation Influencing Metformin Response in a Multiancestry Genome-Wide Association Study in the Diabetes Prevention Program (DPP)在糖尿病预防计划 (DPP) 的多血统全基因组关联研究中鉴定影响二甲双胍反应的遗传变异

DIABETES

IF7.5

2023-12-16

OAAI

Li, Josephine H.; Perry, James A.; Jablonski, Kathleen A.; Srinivasan, Shylaja; Chen, Ling; Todd, Jennifer N.; Harden, Maegan; Mercader, Joseph M.; Pan, Qing; Dawed, Adem Y.; Yee, Sook Wah; Pearson, Ewan R.; Giacomini, Kathleen M.; Giri, Ayush; Hung, Adriana M.; Xiao, Shujie; Williams, L. Keoki; Franks, Paul W.; Hanson, Robert L.; Kahn, Steven E.; Knowler, William C.; Pollin, Toni I.; Florez, Jose C.

A Type 1 Diabetes Polygenic Score Is Not Associated With Prevalent Type 2 Diabetes in Large Population Studies 在大量人群研究中，1型糖尿病多基因评分与2型糖尿病患病率无关

JOURNAL OF THE ENDOCRINE SOCIETY

IF3.1

2023-10-05

OAAI

Srinivasan, Shylaja; Wu, Peitao; Mercader, Josep M.; Udler, Miriam S.; Porneala, Bianca C.; Bartz, Traci M.; Floyd, James S.; Sitlani, Colleen; Guo, Xiquing; Haessler, Jeffrey; Kooperberg, Charles; Liu, Jun; Ahmad, Shahzad; van Duijn, Cornelia; Liu, Ching-Ti; Goodarzi, Mark O.; Florez, Jose C.; Meigs, James B.; Rotter, Jerome, I; Rich, Stephen S.; Dupuis, Josee; Leong, Aaron

Discovering cellular programs of intrinsic and extrinsic drivers of metabolic traits using LipocyteProfiler

CELL GENOMICS

IF9

2023-07-01

OAAI

Laber, Samantha; Strobel, Sophie; Mercader, Josep M.; Dashti, Hesam; Santos, Felipe R. C. dos; Kubitz, Phil; Jackson, Maya; Ainbinder, Alina; Honecker, Julius; Agrawal, Saaket; Garborcauskas, Garrett; Stirling, David R.; Leong, Aaron; Figueroa, Katherine; Sinnott-Armstrong, Nasa; Kost-Alimova, Maria; Deodato, Giacomo; Harney, Alycen; Way, Gregory P.; Saadat, Alham; Harken, Sierra; Reibe-Pal, Saskia; Ebert, Hannah; Zhang, Yixin; Calabuig-Navarro, Virtu; Mcgonagle, Elizabeth; Stefek, Adam; Dupuis, Josee; Cimini, Beth A.; Hauner, Hans; Udler, Miriam S.; Carpenter, Anne E.; Florez, Jose C.; Lindgren, Cecilia; Jacobs, Suzanne B. R.; Claussnitzer, Melina

Type 2 Diabetes Polygenic Score Predicts the Risk of Glucocorticoid-Induced Hyperglycemia in Patients Without Diabetes

DIABETES CARE

IF16.6

2023-06-23

OAAI

Deutsch, Aaron J. J.; Schroeder, Philip H. H.; Mandla, Ravi; Kang, Sarah; Erenler, Feyza; Mercader, Josep M. M.; Udler, Miriam S. S.; Florez, Jose C. C.; Brenner, Laura N. N.

Genetic Variants That Lower Hemoglobin A1c Independently of Glycemia Are Associated with Higher Diabetic Retinopathy Risk in Diverse Ancestries

DIABETES

IF7.5

2023-06-20

PREAI

Schroeder, Philip H.; Mandla, Ravi; Florez, Jose C.; Mercader, Josep M.; Leong, Aaron

Genetic Variants Influencing Insulin Deficiency and Resistance Are Associated with Adverse Pregnancy Outcomes

DIABETES

IF7.5

2023-06-20

PREAI

Hsu, Sarah; James, Kaitlyn; Baez, Arantxa Medina; Smith, Kirk; Mercader, Josep M.; Udler, Miriam; Powe, Camille E.

研究方向