Publications by authors named "Jm Friedman"

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Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jan M Friedman

Am J Med Genet A· December 2025

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Barriers and facilitators to implementing clinical genome-wide sequencing: A scoping review of the global landscape.
Whiwon Lee, Joyce Yan, Katharine Fooks, Melanie Barwick, Mark Dobrow, Jan M Friedman

Genet Med· December 2025

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A clinical and genotype-phenotype analysis of MACF1 variants.
Jordy Dekker, Rachel Schot, Kimberly A Aldinger, David B Everman, Camerun Washington, Jan M Friedman

Am J Hum Genet· October 2025

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Hydroclimatic relationships and stable isotopic analysis in baldcypress tree rings.
Jared M Friedman, Emily A Elliott, Clay S Tucker, Joshua C Bregy, Matthew D Therrell

Sci Total Environ· October 2025

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ZMIZ1-Associated Neurodevelopmental Disorder in a 52-Year-Old Woman.
Sila Rogan, Anthony Gador, Evelyn Carroll, Jan M Friedman

Am J Med Genet A· October 2025

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Systematic Review and Meta-Analysis: Acetaminophen Use During Pregnancy and the Risk of Neurodevelopmental Disorders in Childhood.
Anick Bérard, Judith Cottin, Lisiane F Leal, Cyndie Picot, Justine Pleau, Jan M Friedman

J Am Acad Child Adolesc Psychiatry· October 2025

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Validation of the human disharmony loop: Pectoralis minor tenotomy significantly reduces pain and improves function in historically challenging patients who meet reproducible and explicit diagnostic criteria.
James M Friedman, Jaicharan Iyengar, Ketan Sharma

PLoS One· October 2025

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Commentary on haploinsufficiency associated with -related global developmental delay and distinctive facial features without neuroregression.
Tony Yammine, Sandra Mercier, Céline Poirsier, Nathalie Bednarek, Christine Clavel, Jan M Friedman

J Med Genet· September 2025

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Cystic fibrosis: Correction of a fatal disease.
Jeffrey M Friedman

Proc Natl Acad Sci U S A· September 2025

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Salutary effects of transdermal curcumin on multiple indices of health span in rodent models of normal aging and hypertension.
Kai Mao, Ruixuan Wang, Kateryna Karpoff, Daniel Kerr, Probal Banerjee, Joel M Friedman

Geroscience· August 2025

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Putting control into parents' hands: Parent experiences with a genomic results e-booklet.
Shelin Adam, Patricia Gombas, Michelle Demos, Cyrus Boelman, Mary B Connolly, Jan M Friedman

J Genet Couns· August 2025

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A new hormone arrives in the middle of the night.
Jeffrey M Friedman

Nat Med· July 2025

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Immune Dysregulation in a Child With SOD1-Related Neurological Disease.
Rozlyn Claire Thomas Boutin, Farzaneh Shobeirian, Shelin Adam, Anna Lehman, Ramona Salvarinova, Jan M Friedman

Am J Med Genet A· April 2025

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On the causes of obesity and its treatment: The end of the beginning.
Jeffrey M Friedman

Cell Metab· March 2025

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A cellular and molecular basis of leptin resistance.
Bowen Tan, Kristina Hedbacker, Leah Kelly, Zhaoyue Zhang, Alexandre Moura-Assis, Jeffrey M Friedman

Cell Metab· March 2025

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The Human Disharmony Loop: A Case Series Proposing the Unique Role of the Pectoralis Minor in a Unifying Syndrome of Chronic Pain, Neuropathy, and Weakness.
Ketan Sharma, James M Friedman

J Clin Med· March 2025

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Non-invasive in vivo bidirectional magnetogenetic modulation of pain circuits.
Aldana M Antoniazzi, Santiago R Unda, Sofya Norman, Lisa E Pomeranz, Roberta Marongiu, Jeffrey M Friedman

bioRxiv· March 2025

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Targeting sickle cell pathobiology and pain with novel transdermal curcumin.
Yugal Goel, Mya A Arellano, Raghda T Fouda, Natalie R Garcia, Reina A Lomeli, Joel M Friedman

PNAS Nexus· February 2025

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Leptin-activated hypothalamic BNC2 neurons acutely suppress food intake.
Han L Tan, Luping Yin, Yuqi Tan, Jessica Ivanov, Kaja Plucinska, Jeffrey M Friedman

Nature· December 2024

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Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism.
Jan M Friedman

NPJ Genom Med· December 2024

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Bidirectional regulation of motor circuits using magnetogenetic gene therapy.
Santiago R Unda, Lisa E Pomeranz, Roberta Marongiu, Xiaofei Yu, Leah Kelly, Jeffrey M Friedman

Sci Adv· October 2024

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Leptin signaling maintains autonomic stability during severe influenza infection in mice.
Andrés R Muñoz-Rojas, Adam C Wang, Lisa E Pomeranz, Elizabeth L Reizis, Heather W Stout-Delgado, Jeffrey M Friedman

J Clin Invest· October 2024

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Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations.
Guylaine D'Amours, Marc Clausen, Stephanie Luca, Emma Reble, Rita Kodida, Jan M Friedman

BMJ Open· September 2024

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The discovery and development of GLP-1 based drugs that have revolutionized the treatment of obesity.
Jeffrey M Friedman

Proc Natl Acad Sci U S A· September 2024

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