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Alan R. Shuldiner

Regeneron Genetics Center

131H-index
793Paper Count
9.5WCitation Count
Published Papers 330
Publication Date
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Analysis of 173,303 exomes and genomes in the Pakistan Genome Resource
errNature
IF48.5
err2026-06-17
err0
errOAAI
errChristopher Koch; Shareef Khalid; Maleeha Zaman Khan; Shruthi Bandyadka; Brian Doyon; Daniel P. Denning; Muhammad Jahanzaib; Muhammad Rehan Mian; Wafa Gul; Muhammad Bilal Liaqat; Aneeqa Bano; Marium Dahar; Namra Saqib; Lubna Kamani; Nazish Butt; Anjum Jalal; Riffat Sultana; Shahid Abbas; Musfireh Siddiqeh; Muhammad Haroon; Asadullah Khan; Khalid Parvez Babar; Aflak Rasheed; Javed Iqbal; Faizan Aslam; Umar Usman; Muhammad Akram Bajwa; Ali Hyder; Muhammad Sadik Memon; Nauman Hashmani; Mohsin Iqbal Haroon; Ambreen Muddassir; Syed Asif Raza Zaidi; Mateen Akram; Muhammad Hussain; Saima Naz Mohsin; Samreen Bugti; Tariq Mehmood; Abdul Lateef Rodeni; Shahid Mukhtar; Tahir Rasool; Adil Mahmood; Muhammad Noor Wazir; Sheraz Jamal Khan; Muhammad Asghar Khan; Rahmat Ghaffar; Sanaullah Jan; Noor Ul Hadi; Roshina Anjum; Rehan Abdullah; Muhammad Usman Musharraf; Muhammad Tahir Bashir; Muhammad Ali; Irfan Majeed; Muhammad Haroon Bilal; Shahzad Ali Khan; Chihiro Hata; Ikuyo Kou; Makoto Asaumi; Wataru Morii; Katherine R. Smith; Kousik Kundu; Kieren Lythgow; Stewart MacArthur; Sebastian Wasilewski; Slavé Petrovski; Juan L. Rodriguez-Flores; Moeen Riaz; Manav Kapoor; Joshua D. Backman; Alan R. Shuldiner; James E. Bradner; Igor Splawski; Asif Rasheed; John E. Dominy; Allan M. Gurtan; Danish Saleheen
errShare
errSave
Alzheimer’s disease-like brain pattern biomarker: capturing risks and predicting disease onset
errMolecular Psychiatry
IF10.1
err2026-04-27
err0
errOAAI
errPeter Kochunov; Si Gao; Lauren E. Salminen; Neda Jahanshad; Talia M. Nir; Paul M. Thompson; Xiaoming Du; Bhim M. Adhikari; Alice Kochunov; Ryan Cassidy; Yizhou Ma; Joshua Chiappelli; Seth Ament; Yezhi Pan; Shuo Chen; Alan R. Shuldiner; Braxton D. Mitchell; L. Jair Soares; L. Elliot Hong
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errSave
The landscape of hereditary haemochromatosis risk and diagnosis across the British Isles and Ireland
errNature Communications
IF15.7
err2026-02-03
err0
errOAAI
errShona M. Kerr; Benjamin S. Fletcher; Gannie Tzoneva; Alan R. Shuldiner; Edmund Gilbert; James F. Wilson
errShare
errSave
Medically actionable DNA variants have a prevalence of 5 % in the Cyprus genetic landscape
errGenomics
IF3
err2025-12-06
err0
errOAAI
errDionysios Fanidis; Eirini Moutsouri; Apostolos Malatras; Alan R. Shuldiner; Anna Alkelai; Christiana Polydorou; Gregory Papagregoriou; Constantinos Deltas
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errSave
Complete loss of SLC30A8 in humans improves glucose metabolism and beta cell function
errDiabetologia
IF10.2
err2025-09-29
err0
errOAAI
errLindsey B. Lamarche; Christopher Koch; Shareef Khalid; Maleeha Zaman Khan; Richard Zessis; Matthew E. Clement; Daniel P. Denning; Allison B. Goldfine; Igor Splawski; Ali Abbasi; Jennifer L. Harrow; Christina Underwood; Kazuhisa Tsunoyama; Makoto Asaumi; Ikuyo Kou; Juan L. Rodriguez-Flores; Alan R. Shuldiner; Asif Rasheed; Muhammad Jahanzaib; Muhammad Rehan Mian; Muhammad Bilal Liaqat; Usman Abdulsalam; Riffat Sultana; Anjum Jalal; Muhammad Hamid Saeed; Shahid Abbas; Fazal Rehman Memon; Mohammad Ishaq; Allan M. Gurtan; John E. Dominy; Danish Saleheen
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A founder variant in TBCB is associated with global developmental delay, autism spectrum and spastic paraparesis
errGenetics in Medicine
IF6.2
err2025-08-23
err0
PREAI
errSharon Bratman Morag; Chen Itzkovich; Alina Kurolap; Mordechai Shohat; Alexandra Durr; Jean-Madeleine de Sainte Agathe; Jeremy Bertrand; Arie Koifman; Anna Alkelai; Alan R. Shuldiner; Adi Mory; Tamar Harel; Hagar Mor-Shaked; Adel Shalata; Tamar Paperna; Hagit Baris Feldman; Reli Rachel Kakun; Daniel Kornitzer; Adi Salzberg; Karin Weiss
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errSave
Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health
errClinical Genetics
IF2.3
err2025-08-05
err0
errOAAI
errLuiza Beatriz Mayer de Lima; Eduardo Delabio Auer; Isabela Dall’Oglio Bucco; Valéria Bumiller-Bini Hoch; Priscila Ianzen dos Santos; Fabiana L. Lopes; Alan Shuldiner; Emilton Lima Júnior; Angelica Beate Winter Boldt
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errSave
A rare variant in GPR156 associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in mice
errPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
err2025-04-14
err0
errOAAI
errMillera, Bradley R.; Gonzaga-Jaureguic, Claudia; Brigattie, Karlla W.; de Jonga, Job; Breeseg, Robert S.; Ko, Seungyeon; Puffenbergere, Erik G.; Van Houtc, Cristopher; Younge, Millie; Lunah, Victor M.; Staplesc, Jeffrey; First, Michael B.; Gregoirea, Hilledna J.; Dworka, Andrew J.; Pefanisg, Evangelos; Mccarthyc, Shane; Brydges, Susannah; Rojasg, Jose; Yec, Bin; Stahlc, Eli; Di Gioiac, Silvio Alessandro; Hena, Rene; Elwoodi, Kevin; Rosoklijaa, Gorazd; Lic, Dadong; Mellisg, Scott; Careyi, David; Crollg, Susan D.; Overtonc, John D.; Macdonaldg, Lynn E.; Economidesc, Aris N.; Shuldinerc, Alan R.; Chuhmaf, Nao; Rayportf, Stephen; Aminj, Najaf; Kushnera, Steven A.; Haberg, Nicole Alessandri-; Markx, Sander; Strauss, Kevin A.
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Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-04-01
err0
errOAAI
errKerr, Shona M.; Klaric, Lucija; Muckian, Marisa D.; Johnston, Kiera; Drake, Camilla; Halachev, Mihail; Cowan, Emma; Snadden, Lesley; Dean, John; Zheng, Sean L.; Thami, Prisca K.; Ware, James S.; Tzoneva, Gannie; Shuldiner, Alan R.; Miedzybrodzka, Zosia; Wilson, James F.
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errSave
The contribution of de novo coding mutations to meningomyelocele
errNATURE
IF48.5
err2025-03-26
err0
errOAAI
errHa, Yoo-Jin Jiny; Nisal, Ashna; Tang, Isaac; Lee, Chanjae; Jhamb, Ishani; Wallace, Cassidy; Howarth, Robyn; Schroeder, Sarah; Vong, Keng loi; Meave, Naomi; Jiwani, Fiza; Barrows, Chelsea; Lee, Sangmoon; Jiang, Nan; Patel, Arzoo; Bagga, Krisha; Banka, Niyati; Friedman, Liana; Blanco, Francisco A.; Yu, Seyoung; Rhee, Soeun; Jeong, Hui Su; Plutzer, Isaac; Major, Michael B.; Benoit, Beatrice; Pous, Christian; Heffner, Caleb; Kibar, Zoha; Bot, Gyang Markus; Northrup, Hope; Au, Kit Sing; Strain, Madison; Ashley-Koch, Allison E.; Finnell, Richard H.; Le, Joan T.; Meltzer, Hal S.; Araujo, Camila; Machado, Helio R.; Stevenson, Roger E.; Yurrita, Anna; Mumtaz, Sara; Ahmed, Awais; Khara, Mulazim Hussain; Mutchinick, Osvaldo M.; Medina-Bereciartu, Jose Ramon; Hildebrandt, Friedhelm; Melikishvili, Gia; Marwan, Ahmed I.; Capra, Valeria; Noureldeen, Mahmoud M.; Salem, Aida M. S.; Issa, Mahmoud Y.; Zaki, Maha S.; Xu, Libin; Lee, Ji Eun; Shin, Donghyuk; Alkelai, Anna; Shuldiner, Alan R.; Kingsmore, Stephen F.; Murray, Stephen A.; Gee, Heon Yung; Miller, W. Todd; Tolias, Kimberley F.; Wallingford, John B.; Kim, Sangwoo; Spina Bifida Sequencing Consortium, Joan T.; Koch, Allison E. Ashley; Lupo, Philip J.; Magana, Tony; Kolvenbach, Caroline M.; Shril, Shirlee; Takahashi, Yukitoshi; Salimi-Dafsari, Hormos; Hanak, Brian; Kara, Bulent; Gunes, Ayfer Sakarya; Gonda, David D.; Kirmani, Salman; Tkemaladze, Tinatin
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errSave
Tailored Approach to Designing a Digital Research Platform for Adults Aged 95 and Older: SuperAgers Family Study
errJOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
IF3.8
err2025-02-05
err0
PREAI
errMilman, Sofiya; Montgomery, Aisha; Barzilai, Nir; Gao, Tina; Wilson, Kara A.; Perls, Thomas; Leahy, Aoife McGovern; Burgis, Elizabeth; Ruxton, Megan; Jain, Praduman; Shuldiner, Alan R.
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errSave
Genetic inactivation of zinc transporter SLC39A5 improves liver function and hyperglycemia in obesogenic settings
errELIFE
IF0
err2024-12-13
err0
errOAAI
errChim, Shek Man; Howell, Kristen; Dronzek, John; Wu, Weizhen; Van Hout, Cristopher; Ferreira, Manuel A. R.; Ye, Bin; Li, Alexander; Brydges, Susannah; Arunachalam, Vinayagam; Marcketta, Anthony; Locke, Adam E.; Bovijn, Jonas; Verweij, Niek; De, Tanima; Lotta, Luca; Mitnaul, Lyndon; LeBlanc, Michelle; Carey, David J.; Melander, Olle; Shuldiner, Alan; Karalis, Katia; Economides, Aris N.; Nistala, Harikiran
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errSave
Randomized evaluation of the loss-of-function carboxylesterase 1 (CES1) G143E variant on clopidogrel and ticagrelor pharmacodynamics
errCTS-CLINICAL AND TRANSLATIONAL SCIENCE
IF2.8
err2024-11-22
err0
errOAAI
errLewis, Joshua P.; Ryan, Kathleen A.; Streeten, Elizabeth A.; Whitlatch, Hilary B.; Daue, Melanie; Tanner, Keith; Perry, James A.; O'Connell, Jeffrey R.; Shuldiner, Alan R.; Mitchell, Braxton D.
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errSave
Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-10-22
err2
errOAAI
errKerr, Shona M.; Klaric, Lucija; Muckian, Marisa D.; Cowan, Emma; Snadden, Lesley; Tzoneva, Gannie; Shuldiner, Alan R.; Miedzybrodzka, Zosia; Wilson, James F.
errShare
errSave
Regionally enriched rare deleterious exonic variants in the UK and Ireland
errNATURE COMMUNICATIONS
IF15.7
err2024-10-02
err0
errOAAI
errHalachev, Mihail; Gountouna, Viktoria-Eleni; Meynert, Alison; Tzoneva, Gannie; Shuldiner, Alan R.; Semple, Colin A.; Wilson, James F.
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errSave
Transcriptional profiling in microglia across physiological and pathological states identifies a transcriptional module associated with neurodegeneration
errCOMMUNICATIONS BIOLOGY
IF5.1
err2024-09-18
err4
errOAAI
errGuvenek, Aysegul; Parikshak, Neelroop; Zamolodchikov, Daria; Gelfman, Sahar; Moscati, Arden; Dobbyn, Lee; Stahl, Eli; Shuldiner, Alan; Coppola, Giovanni
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errSave
Rare genetic coding variants associated with human longevity and protection against age-related diseases (vol 1, pg 783, 2021)
errNATURE AGING
IF19.4
err2024-08-28
err0
PREAI
errLin, Jhih-Rong; Sin-Chan, Patrick; Napolioni, Valerio; Torres, Guillermo G.; Mitra, Joydeep; Zhang, Quanwei; Jabalameli, M. Reza; Wang, Zhen; Nguyen, Nha; Gao, Tina; Laudes, Matthias; Goerg, Siegfried; Franke, Andre; Nebel, Almut; Greicius, Michael D.; Atzmon, Gil; Ye, Kenny; Gorbunova, Vera; Ladiges, Warren C.; Shuldiner, Alan R.; Niedernhofer, Laura J.; Robbins, Paul D.; Milman, Sofiya; Suh, Yousin; Vijg, Jan; Barzilai, Nir; Zhang, Zhengdong D.
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Identification and functional validation of rare coding variants in genes linked to monogenic obesity
errOBESITY
IF4.7
err2024-08-28
err0
errOAAI
errKoroglu, Cigdem; Traurig, Michael; Muller, Yunhua L.; Day, Samantha E.; Piaggi, Paolo; Wiedrich, Kim; Vazquez, Laura; Hanson, Robert L.; Van Hout, Cristopher V.; Alkelai, Anna; Shuldiner, Alan R.; Bogardus, Clifton; Baier, Leslie J.
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errSave
Genetic risk factors for COVID-19 and influenza are largely distinct
errNATURE GENETICS
IF31.8
err2024-08-05
err0
errOAAI
errKosmicki, Jack A.; Marcketta, Anthony; Sharma, Deepika; Di Gioia, Silvio Alessandro; Batista, Samantha; Yang, Xiao-Man; Tzoneva, Gannie; Martinez, Hector; Sidore, Carlo; Kessler, Michael D.; Horowitz, Julie E.; Roberts, Genevieve H. L.; Justice, Anne E.; Banerjee, Nilanjana; Coignet, Marie V.; Leader, Joseph B.; Park, Danny S.; Lanche, Rouel; Maxwell, Evan; Knight, Spencer C.; Bai, Xiaodong; Guturu, Harendra; Baltzell, Asher; Girshick, Ahna R.; McCurdy, Shannon R.; Partha, Raghavendran; Mansfield, Adam J.; Turissini, David A.; Zhang, Miao; Mbatchou, Joelle; Watanabe, Kyoko; Verma, Anurag; Sirugo, Giorgio; Ritchie, Marylyn D.; Salerno, William J.; Shuldiner, Alan R.; Rader, Daniel J.; Mirshahi, Tooraj; Marchini, Jonathan; Overton, John D.; Carey, David J.; Habegger, Lukas; Reid, Jeffrey G.; Economides, Aris; Kyratsous, Christos; Karalis, Katia; Baum, Alina; Cantor, Michael N.; Rand, Kristin A.; Hong, Eurie L.; Ball, Catherine A.; Siminovitch, Katherine; Baras, Aris; Abecasis, Goncalo R.; Ferreira, Manuel A. R.
errShare
errSave
Epigenetic and proteomic signatures associate with clonal hematopoiesis expansion rate
errNATURE AGING
IF19.4
err2024-06-04
err0
PREAI
errMack, Taralynn M.; Raddatz, Michael A.; Pershad, Yash; Nachun, Daniel C.; Taylor, Kent D.; Guo, Xiuqing; Shuldiner, Alan R.; O'Connell, Jeffrey R.; Kenny, Eimear E.; Loos, Ruth J. F.; Redline, Susan; Cade, Brian E.; Psaty, Bruce M.; Bis, Joshua C.; Brody, Jennifer A.; Silverman, Edwin K.; Yun, Jeong H.; Cho, Michael H.; DeMeo, Dawn L.; Levy, Daniel; Johnson, Andrew D.; Mathias, Rasika A.; Yanek, Lisa R.; Heckbert, Susan R.; Smith, Nicholas L.; Wiggins, Kerri L.; Raffield, Laura M.; Carson, April P.; Rotter, Jerome I.; Rich, Stephen S.; Manichaikul, Ani W.; Gu, C. Charles; Chen, Yii-Der Ida; Lee, Wen-Jane; Shoemaker, M. Benjamin; Roden, Dan M.; Kooperberg, Charles; Auer, Paul L.; Desai, Pinkal; Blackwell, Thomas W.; Smith, Albert V.; Reiner, Alexander P.; Jaiswal, Siddhartha; Weinstock, Joshua S.; Bick, Alexander G.
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Research Directions

No research directions
Co-authors
Cooperation Journals
L
Luigi Ferrucci
H-index: 237 · Papers: 2.6K
D
Daniel Levy
H-index: 230 · Papers: 1.6K
R
Ronald Klein
H-index: 229 · Papers: 2.2K
M
Mark I. McCarthy
H-index: 222 · Papers: 1.5K
G
Gonçalo R. Abecasis
H-index: 204 · Papers: 846
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