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Author Details

Toni I Pollin
University of Maryland School of Medicine
1999
143
46
PMIDPaper TitleJournal TitlePublished Year
37537905Genetic counseling in diabetes mellitus: A practice resource of the National Society of Genetic Counselors.J Genet Couns2024
37537905Genetic counseling in diabetes mellitus: A practice resource of the National Society of Genetic Counselors.J Genet Couns2024
36525397Identification of Genetic Variation Influencing Metformin Response in a Multiancestry Genome-Wide Association Study in the Diabetes Prevention Program (DPP).Diabetes2023
37808701Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.medRxiv2023
37794253Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine.Nat Med2023
37794142The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion.Commun Med (Lond)2023
37159869Association of parity with body mass index and cardiometabolic risk in high-parous women.Menopause2023
36882501Genome-wide significant risk loci for mood disorders in the Old Order Amish founder population.Mol Psychiatry2023
37131594A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes.medRxiv2023
37425717TM6SF2 Determines Both the Degree of Lipidation and the Number of VLDL Particles Secreted by the Liver.medRxiv2023
37292813Insights from rare variants into the genetic architecture and biology of youth-onset type 2 diabetes.Res Sq2023
36845305Enrollment of underrepresented racial and ethnic groups in the Rare and Atypical Diabetes Network (RADIANT).J Clin Transl Sci2023
36525397Identification of Genetic Variation Influencing Metformin Response in a Multiancestry Genome-Wide Association Study in the Diabetes Prevention Program (DPP).Diabetes2023
37808701Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.medRxiv2023
37794253Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine.Nat Med2023
37794142The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion.Commun Med (Lond)2023
37292813Insights from rare variants into the genetic architecture and biology of youth-onset type 2 diabetes.Res Sq2023
37159869Association of parity with body mass index and cardiometabolic risk in high-parous women.Menopause2023
37425717TM6SF2 Determines Both the Degree of Lipidation and the Number of VLDL Particles Secreted by the Liver.medRxiv2023
37131594A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes.medRxiv2023
36882501Genome-wide significant risk loci for mood disorders in the Old Order Amish founder population.Mol Psychiatry2023
36845305Enrollment of underrepresented racial and ethnic groups in the Rare and Atypical Diabetes Network (RADIANT).J Clin Transl Sci2023
34935254Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia.Eur J Neurol2022
35763601Model for Integration of Monogenic Diabetes Diagnosis Into Routine Care: The Personalized Diabetes Medicine Program.Diabetes Care2022
35442562Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.Am J Med Genet A2022
36208030Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.Endocrinol Diabetes Metab2022
34935254Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia.Eur J Neurol2022
35442562Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.Am J Med Genet A2022
35763601Model for Integration of Monogenic Diabetes Diagnosis Into Routine Care: The Personalized Diabetes Medicine Program.Diabetes Care2022
36208030Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.Endocrinol Diabetes Metab2022
34108472Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.Nat Commun2021
33529164Monogenic diabetes: a gateway to precision medicine in diabetes.J Clin Invest2021
34108472Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.Nat Commun2021
34357114Strategies to Integrate Genomic Medicine into Clinical Care: Evidence from the IGNITE Network.J Pers Med2021
34467620The burden of pathogenic variants in clinically actionable genes in a founder population.Am J Med Genet A2021
34362814Monogenic Diabetes in Youth With Presumed Type 2 Diabetes: Results From the Progress in Diabetes Genetics in Youth (ProDiGY) Collaboration.Diabetes Care2021
33529164Monogenic diabetes: a gateway to precision medicine in diabetes.J Clin Invest2021
34467620The burden of pathogenic variants in clinically actionable genes in a founder population.Am J Med Genet A2021
34362814Monogenic Diabetes in Youth With Presumed Type 2 Diabetes: Results From the Progress in Diabetes Genetics in Youth (ProDiGY) Collaboration.Diabetes Care2021
34357114Strategies to Integrate Genomic Medicine into Clinical Care: Evidence from the IGNITE Network.J Pers Med2021
32223038Perspectives from individuals with familial hypercholesterolemia on direct contact in cascade screening.J Genet Couns2020
32223038Perspectives from individuals with familial hypercholesterolemia on direct contact in cascade screening.J Genet Couns2020
32162750Patient perspectives on the diagnostic journey to a monogenic diabetes diagnosis: Barriers and facilitators.J Genet Couns2020
33141630<i>KCNQ1</i> and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.Circ Genom Precis Med2020
32739915Parkinson's Disease-Related Motor and Nonmotor Symptoms in the Lancaster Amish.Neuroepidemiology2020
33234182Risk factors for <i>Toxoplasma gondii</i> seropositivity in the Old Order Amish.Epidemiol Infect2020
32843497Prevalence, control, and treatment of diabetes, hypertension, and high cholesterol in the Amish.BMJ Open Diabetes Res Care2020
33164987YIPF5 mutations cause neonatal diabetes and microcephaly: progress for precision medicine and mechanistic understanding.J Clin Invest2020
32719392Correction: Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network's Common Measures Working Group.Genet Med2020
33141630<i>KCNQ1</i> and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.Circ Genom Precis Med2020
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Collaborators

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Duke University School of Medicine
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Indiana University School of Medicine
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University of Maryland School of Medicine
Co-authored papers 7
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King's College London
Co-authored papers 6
University of Maryland
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