Genetic and Genomic Medicine

The Role of Genomic-Informed Risk Assessments in Predicting Dementia Outcomes
Shea J. Andrews, Paulina Tolosa-Tort, Caroline Jonson, Brian Fulton-Howard, Alan E Renton, Jennifer S Yokoyama, Kristine Yaffe

medRxiv 2024.04.27.24306488; doi: https://doi.org/10.1101/2024.04.27.24306488

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Obesity- and age-dependent genetic regulation of the plasma proteome in children and adolescents
Roman Thielemann, Sara Elizabeth Stinson, Yun Huang, Louise Aas Holm, Justus Florian Gräf, Palle Duun Rohde, Peter Loof Møller, Axel Illeris Poggi, Louise Vølund Anderson, Cilius Esmann Fonvig, Maja Thiele, Aleksander Krag, Simon Rasmussen, Jens-Christian Holm, Torben Hansen

medRxiv 2025.03.18.25324169; doi: https://doi.org/10.1101/2025.03.18.25324169

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Assessment of common genetic variation in Alzheimer’s and Parkinson’s diseases reveals global distinction in population attributable risk
Lietsel Jones, Catalina Cerquera-Cleves, Artur FS Schuh, Mary B Makarious, Hirotaka Iwaki, Mike A. Nalls, Alastair J Noyce, Global Parkinson’s Genetics Program (GP2), Cornelis Blauwendraat, Andrew Singleton, Ignacio Mata, Mark R. Cookson, Sara Bandres-Ciga

medRxiv 2024.09.23.24314240; doi: https://doi.org/10.1101/2024.09.23.24314240

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Investigating shared genetic architecture between pigmentation genetics and Parkinson’s Disease
Cristina L Abbatangelo, Brendan Newton, Frank R Wendt, Esteban J Parra

medRxiv 2025.04.30.25326753; doi: https://doi.org/10.1101/2025.04.30.25326753

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Genetic Heterogeneity and Homogeneity Among Orofacial Cleft Subtypes: Genome-Wide Association Studies in the Cleft Collective
Kyle Dack, Kerstin U. Ludwig, Evie Stergiakouli, Jonathan Sandy, Sethlina Aryee, George Davey Smith, Amy Davies, Yvonne Wren, Gemma C Sharp, Kerry Humphries, Elisabeth Mangold, Lucy Goudswaard, Karen Ho, Tom Dudding, Sarah J. Lewis

medRxiv 2025.05.02.25326852; doi: https://doi.org/10.1101/2025.05.02.25326852

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Artificial intelligence in clinical genetics: current practice and attitudes among the clinical genetics workforce
Amanda M Berkstresser, Suzanna E. Ledgister Hanchard, Daniela Iacaboni, Kevin McMilian, Dat Duong, Benjamin D. Solomon, Rebekah L. Waikel

medRxiv 2025.04.30.25326673; doi: https://doi.org/10.1101/2025.04.30.25326673

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Celeste: A cloud-based genomics infrastructure with variant-calling pipeline suited for population-scale sequencing projects
Noora Siddiqui, Breanna Lee, Victoria Yi, Jesse Farek, Ziad Khan, Sara E Kalla, Qiaoyan Wang, Kimberly Walker, James Meldrim, Christopher Kachulis, Michael Gatzen, Niall J. Lennon, Shyamal Mehtalia, Severine Catreux, Rami Mehio, Richard A Gibbs, Eric Venner

medRxiv 2025.04.29.25326690; doi: https://doi.org/10.1101/2025.04.29.25326690

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When Two Plus Four Does Not Equal Six: Combining Computational and Functional Evidence to Classify BRCA1 Key Domain Missense Substitutions
Scott T. Pew, Madison B. Wiffler, Alun Thomas, Julie L. Boyle, Melissa S. Cline, Nicola J. Camp, David E. Goldgar, Sean V. Tavtigian

medRxiv 2024.10.09.24315186; doi: https://doi.org/10.1101/2024.10.09.24315186

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Mutations in 329 probands with suspected renal electrolyte disorders
Renan Eduardo Aparicio, Sheng Chih Jin, Weilai Dong, Samir Zaidi, Michael C Sierant, James Knight, Robert D Bjornson, Christopher Castaldi, Shrikant M Mane, Thomas M. Kaneko, Carol Nelson-Williams, Richard P. Lifton

medRxiv 2025.04.28.25326317; doi: https://doi.org/10.1101/2025.04.28.25326317

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Calibrated Functional Data Decreases Clinical Uncertainty for KCNH2-related Long QT Syndrome
Chai-Ann Ng, Matthew J. O’Neill, Samskruthi R. Padigepati, Yi-Lee Ting, Flavia M. Facio, Matteo Vatta, Sarah R. Poll, Jason Reuter, Jamie I. Vandenberg, Brett M. Kroncke

medRxiv 2025.02.05.25321617; doi: https://doi.org/10.1101/2025.02.05.25321617

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Genetic and Genomic Medicine

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