Publications by authors named "Alan Shuldiner"

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Exonic Variation and Its Clinical Impact in 7221 Old Order Amish.
Braxton D Mitchell, Ebuka Onyenobi, Joshua P Lewis, Brady Gaynor, James A Perry, Alan R Shuldiner

Am J Med Genet A· December 2025

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Complete loss of SLC30A8 in humans improves glucose metabolism and beta cell function.
Lindsey B Lamarche, Christopher Koch, Shareef Khalid, Maleeha Zaman Khan, Richard Zessis, Alan R Shuldiner

Diabetologia· December 2025

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Medically actionable DNA variants have a prevalence of 5 % in the Cyprus genetic landscape.
Dionysios Fanidis, Eirini Moutsouri, Apostolos Malatras, Alan R Shuldiner, Anna Alkelai

Genomics· December 2025

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A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis.
Sharon Bratman Morag, Chen Itzkovich, Alina Kurolap, Mordechai Shohat, Alexandra Durr, Alan R Shuldiner

Genet Med· November 2025

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Attitudes toward returning pathogenic variant and uptake of cascade screening in the Amish.
Elizabeth A Streeten, Yue Guan, Kathleen A Ryan, Melanie Daue, Toni I Pollin, Alan R Shuldiner

Genet Med Open· November 2025

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Alzheimer's Disease-Like Brain Pattern Biomarker: Capturing Risks and Predicting Disease Onset.
Peter Kochunov, Si Gao, Lauren Salminen, Neda Jahanshad, Talia Nir, Alan Shuldiner

Res Sq· September 2025

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Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health.
Luiza Beatriz Mayer de Lima, Eduardo Delabio Auer, Isabela Dall'Oglio Bucco, Valéria Bumiller-Bini Hoch, Priscila Ianzen Dos Santos, Alan Shuldiner

Clin Genet· August 2025

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The contribution of de novo coding mutations to meningomyelocele.
Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Alan R Shuldiner

Nature· May 2025

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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.
Shona M Kerr, Lucija Klaric, Marisa D Muckian, Kiera Johnston, Camilla Drake, Alan R Shuldiner

Am J Hum Genet· April 2025

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A rare variant in associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in mice.
Bradley R Miller, Claudia Gonzaga-Jauregui, Karlla W Brigatti, Job de Jong, Robert S Breese, Alan R Shuldiner

Proc Natl Acad Sci U S A· April 2025

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Tailored Approach to Designing a Digital Research Platform for Adults Aged 95 and Older: SuperAgers Family Study.
Sofiya Milman, Aisha Montgomery, Nir Barzilai, Tina Gao, Kara A Wilson, Alan R Shuldiner

J Gerontol A Biol Sci Med Sci· March 2025

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Author Correction: A deep catalogue of protein-coding variation in 983,578 individuals.
Kathie Y Sun, Xiaodong Bai, Siying Chen, Suying Bao, Chuanyi Zhang, Alan R Shuldiner

Nature· January 2025

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Author Correction: Common and rare variant associations with clonal haematopoiesis phenotypes.
Michael D Kessler, Amy Damask, Sean O'Keeffe, Nilanjana Banerjee, Dadong Li, Alan R Shuldiner

Nature· January 2025

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Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.
Shona M Kerr, Lucija Klaric, Marisa D Muckian, Emma Cowan, Lesley Snadden, Alan R Shuldiner

Eur J Hum Genet· December 2024

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Genetic inactivation of zinc transporter SLC39A5 improves liver function and hyperglycemia in obesogenic settings.
Shek Man Chim, Kristen Howell, John Dronzek, Weizhen Wu, Cristopher Van Hout, Alan Shuldiner

Elife· December 2024

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Randomized evaluation of the loss-of-function carboxylesterase 1 (CES1) G143E variant on clopidogrel and ticagrelor pharmacodynamics.
Joshua P Lewis, Kathleen A Ryan, Elizabeth A Streeten, Hilary B Whitlatch, Melanie Daue, Alan R Shuldiner

Clin Transl Sci· November 2024

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Identification and characterization of human GDF15 knockouts.
Allan M Gurtan, Shareef Khalid, Christopher Koch, Maleeha Zaman Khan, Lindsey B Lamarche, Alan R Shuldiner

Nat Metab· October 2024

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Regionally enriched rare deleterious exonic variants in the UK and Ireland.
Mihail Halachev, Viktoria-Eleni Gountouna, Alison Meynert, Gannie Tzoneva, Alan R Shuldiner

Nat Commun· October 2024

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Identification and functional validation of rare coding variants in genes linked to monogenic obesity.
Çiğdem Köroğlu, Michael Traurig, Yunhua L Muller, Samantha E Day, Paolo Piaggi, Alan R Shuldiner

Obesity (Silver Spring)· September 2024

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Author Correction: Rare genetic coding variants associated with human longevity and protection against age-related diseases.
Jhih-Rong Lin, Patrick Sin-Chan, Valerio Napolioni, Guillermo G Torres, Joydeep Mitra, Alan R Shuldiner

Nat Aging· September 2024

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NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke.
Juan Lorenzo Rodriguez-Flores, Shareef Khalid, Neelroop Parikshak, Asif Rasheed, Bin Ye, Alan R Shuldiner

Nat Commun· September 2024

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Transcriptional profiling in microglia across physiological and pathological states identifies a transcriptional module associated with neurodegeneration.
Aysegul Guvenek, Neelroop Parikshak, Daria Zamolodchikov, Sahar Gelfman, Arden Moscati, Alan Shuldiner

Commun Biol· September 2024

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Epigenetic and proteomic signatures associate with clonal hematopoiesis expansion rate.
Taralynn M Mack, Michael A Raddatz, Yash Pershad, Daniel C Nachun, Kent D Taylor, Alan R Shuldiner

Nat Aging· August 2024

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Genetic risk factors for COVID-19 and influenza are largely distinct.
Jack A Kosmicki, Anthony Marcketta, Deepika Sharma, Silvio Alessandro Di Gioia, Samantha Batista, Alan R Shuldiner

Nat Genet· August 2024

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A deep catalogue of protein-coding variation in 983,578 individuals.
Kathie Y Sun, Xiaodong Bai, Siying Chen, Suying Bao, Chuanyi Zhang, Alan R Shuldiner

Nature· July 2024

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