Genetic and Genomic Medicine

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  • Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome
    Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Malak Alghamdi, Naif Almontashiri, Brenda J. Barry, Matthias Begemann, Jacquelyn F. Britton, Sarah Burke, Benjamin Cogne, Ana S.A. Cohen, Carles de Diego Boguna, Evan E. Eichler, Elizabeth C. Engle, Jill A. Fahrner, Laurence Faivre, Melanie Fradin, Nico Fuhrmann, Christine W. Gao, Gunjan Garg, Dagmar Grecmalova, Mina Grippa, Jacqueline R. Harris, Kendra Hoekzema, Tova Hershkovitz, Sydney Hubbard, Katrien Janssens, Julie A. Jurgens, Stanislav Kmoch, Cordula Knopp, Meral Aktas Koptagel, Farah A. Ladha, Pablo Lapunzina, Tobias Lindau, Marije Meuwissen, Andreina Minicucci, Emily Neuhaus, Mathilde Nizon, Lenka Noskova, Kristen Park, Chirag Patel, Rolph Pfundt, Pankaj Prasun, Nils Rahner, Nathaniel H. Robin, Carey Ronspies, Jasmin Roohi, Jill Rosenfeld, Margarita Saenz, Carol Saunders, Zornitza Stark, Isabelle Thiffault, Sarah Thull, Danita Velasco, Clara Velmans, Jolijn Verseput, Antonio Vitobello, Tianyun Wang, Karin Weiss, Ingrid M. Wentzensen, Genay Pilarowski, Thor Eysteinsson, Madelyn Gillentine, Kari Stefansson, Agnar Helgason, Gregory D. Bowman, Hans Tomas Bjornsson
    medRxiv 2025.05.06.25326635; doi: https://doi.org/10.1101/2025.05.06.25326635
  • The microenvironment of ulcerated acral melanoma is characterised by an inflammatory milieu and an enhanced humoral immune response
    Martha Estefania Vazquez-Cruz, Patricia Basurto-Lozada, Christian Molina-Aguilar, Sophia Orozco-Ruiz, Bram Van Haastrecht, Irving Simonin-Wilmer, Hector Martinez-Said, Alethia Alvarez-Cano, Dorian Y Garcia-Ortega, Alfredo Hidalgo-Miranda, Diego Hinojosa-Ugarte, Ingrid Ferreira, Luis Alberto Tavares-de-la-Paz, Jonadab Efrain Olguin, Isabella Salinas, Axel Rodriguez-Perez, Julia M Martinez-Gomez, Ivar van der Zee, David Robert Grimes, Helena Vidaurri de la Cruz, Julio Saez-Rodriguez, Julia A Newton-Bishop, D. Timothy Bishop, Mitchell P Levesque, Patricia A Possik, David J. Adams, Carla Daniela Robles-Espinoza
    medRxiv 2025.05.05.25325616; doi: https://doi.org/10.1101/2025.05.05.25325616
  • The effect of type 2 diabetes genetic predisposition on non-cardiovascular comorbidities
    Ana Luiza Arruda, Ozvan Bocher, Henry J. Taylor, Davis Cammann, Satoshi Yoshiji, Xianyong Yin, Chi Zhao, Jingchun Chen, Alexis C. Wood, Ken Suzuki, Josep M Mercader, Cassandra N Spracklen, James B. Meighs, Marijana Vujkovic, George Davey Smith, Jerome Rotter, Benjamin F. Voight, Andrew P. Morris, Eleftheria Zeggini
    medRxiv 2025.05.05.25326966; doi: https://doi.org/10.1101/2025.05.05.25326966
  • EXaCT-2: An augmented and customizable oncology-focused whole exome sequencing platform
    Peter H Waltman, Pooja Chandra, Ken W Eng, David C Wilkes, Hyeon Park, Carlos Pabon, Troy Kane, Princesca Delpe, Evan Fernandez, Kathryn Gorski, Bhavneet Bhinder, Manuele Simi, Abigail King, Noah Greco, Jyothi Manohar, Jeffrey M Tang, Pantelis Zisimopoulos, Majd Al Assaad, Theresa Teneyck, Douglas Roberts, Jorge Monge, Francesca Demichelis, Wayne Tam, Madhu M Ouseph, Alexandros Sigaras, Himisha Beltran, Hannah Rennert, Neal Lindeman, Wei Song, James Solomon, Juan Miguel Mosquera, Rob Kim, Jeffrey Catalano, Duane C Hassane, Michael Sigouros, Olivier Elemento, Alicia Alonso, Andrea Sboner
    medRxiv 2024.12.05.24318515; doi: https://doi.org/10.1101/2024.12.05.24318515
  • Lynch syndrome in the general population: low clinical utility of genomic screening for PMS2 pathogenic variants
    Kelly M Schiabor Barrett, Catherine Hajek, James Lu, Kate Lynch, Leigha Senter, Amy C Sturm, Chad R Haldeman-Englert, Jeremy Cauwels, Douglas Stoller, Christopher N Chapman, C. Anwar A Chahal, Daniel P Judge, Douglas A Olson, Joseph J Grzymski, William Lee, Elizabeth T Cirulli, Alexandre Bolze
    medRxiv 2025.02.03.25321630; doi: https://doi.org/10.1101/2025.02.03.25321630
  • Identification of (ultra-)rare functional promoter mutations in cancer using sequence-based deep learning models
    Tijs van Lieshout, Carlos G. Urzúa-Traslaviña, Lucía Barbadilla-Martínez, Minh Chau Luong Boi, Harm-Jan Westra, Noud H.M. Klaassen, Vinícius H. Franceschini-Santos, Miguel Parra-Martínez, Jeroen de Ridder, Bas van Steensel, Emile Voest, Lude H. Franke
    medRxiv 2025.05.06.25327057; doi: https://doi.org/10.1101/2025.05.06.25327057
  • Mapping disease loci to biological processes via joint pleiotropic and epigenomic partitioning
    Gaspard Kerner, Nolan Kamitaki, Benjamin Strober, Alkes L. Price
    medRxiv 2025.05.05.25327017; doi: https://doi.org/10.1101/2025.05.05.25327017
  • Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
    Marcelo Melo, Elizabeth Phillippi, Thomas Moninger, Kya Foxx, Benjamin Darbro, Kelly N. Messingham, Edward A. Sander, Hatem El-Shanti
    medRxiv 2025.05.02.25326729; doi: https://doi.org/10.1101/2025.05.02.25326729
  • A foundational neuronal protein network model unifying multimodal genetic, transcriptional, and proteomic perturbations in schizophrenia
    Greta Pintacuda, Yu-Han H. Hsu, Petra Páleníková, Ugne Dubonyte, Nadine Fornelos, Miao Chen, Daya Mena, Julia C. Biagini, Travis Botts, Makayla Martorana, Danzel Rebelo, Joshua K.T. Ching, Ethan Crouse, Hilena Gebre, Xian Adiconis, Nathan Haywood, Sean Simmons, Michel Weïwer, Derek Hawes, Olli Pietilainen, Thomas Werge, Ka Wan Li, August B. Smit, Agnete Kirkeby, Joshua Z. Levin, Ralda Nehme, Kasper Lage
    medRxiv 2025.05.02.25326757; doi: https://doi.org/10.1101/2025.05.02.25326757
  • Loss of function variants in ADAMTS6: Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS)
    Júlia Huguet Herrero, Pauline Arnaud, Angelique Bibimbou, Deborah E. Seifert, Zakaria Mougin, Louise Benarroch, Caroline Michot, Yline Capri, Lyse Ruaud, Sophie Dupuis-Girod, Alexandre Guilhem, Constance Beyer, Fanny Bajolle, Oliver Milleron, Guillaume Jondeau, Nadine Hanna, Dieter P. Reinhardt, Dong-chuan Guo, Dianna Milewicz, Catherine Boileau, Mélodie Aubart, Timothy J. Mead, Carine Le Goff
    medRxiv 2025.05.02.25326573; doi: https://doi.org/10.1101/2025.05.02.25326573

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