Skip navigation
  • Sciety Labs 🧪 (Experimental)
  • Search
Sciety application utilities

Genetic and Genomic Medicine

  • Subscribe to feed (RSS)

Showing page 1 of 23 pages of list content

  • Using Networks and Prior Knowledge to Uncover novel Rare Disease Phenotypes

    This article's authors
    1. Galadriel Brière
    2. Cécile Beust
    3. Morgane Térézol
    4. Anaïs Baudot
    This article has 1 evaluations Latest evaluation on Jul 31, 2025 Published on Apr 3, 2025
  • Heterozygous variants inPLCG1affect hearing, vision, cardiac, and immune function

    This article's authors
    1. Mengqi Ma
    2. Yiming Zheng
    3. Mingxi Deng
    4. Shenzhao Lu
    5. Xueyang Pan
    6. Xi Luo
    7. Michelle Etoundi
    8. David Li-Kroeger
    9. Kim C. Worley
    10. Lindsay C. Burrage
    11. Lauren S. Blieden
    12. Aimee Allworth
    13. Wei-Liang Chen
    14. Giuseppe Merla
    15. Barbara Mandriani
    16. Catherine E Otten
    17. Pierre Blanc
    18. Jill A. Rosenfeld
    19. Debdeep Dutta
    20. Shinya Yamamoto
    21. Michael F. Wangler
    22. Undiagnosed Diseases Network
    23. Ian A. Glass
    24. Jingheng Chen
    25. Elizabeth Blue
    26. Paolo Prontera
    27. Jeremie Rosain
    28. Sandrine Marlin
    29. Seema R. Lalani
    30. Hugo J. Bellen
    This article has 7 evaluations Latest evaluation on Jul 22, 2025 Published on May 29, 2025
  • Functional analysis across model systems implicates ribosomal proteins in growth and proliferation defects associated with hypoplastic left heart syndrome

    This article's authors
    1. Tanja Nielsen
    2. Anaïs Kervadec
    3. Jeanne L. Theis
    4. Maria A. Missinato
    5. James Marchant
    6. Michaela Lynott
    7. Aashna Lamba
    8. Xin-Xin I. Zeng
    9. Marie Berenguer
    10. Stanley M. Walls
    11. Analyne Schroeder
    12. Katja Birker
    13. Greg Duester
    14. Paul Grossfeld
    15. Timothy J. Nelson
    16. Timothy M. Olson
    17. Karen Ocorr
    18. Rolf Bodmer
    19. Georg Vogler
    20. Alexandre R. Colas
    This article has 3 evaluations Latest evaluation on May 22, 2025 Published on Jan 22, 2025
  • Causal associations between plasma proteins and prostate cancer: a Proteome-Wide Mendelian Randomization

    This article's authors
    1. Chen Lin
    2. Gu Yanlun
    3. Chen Yuke
    4. Yu Wei
    5. Zhou Ying
    6. Rong Zhuona
    7. Pang Xiaocong
    This article has 4 evaluations Latest evaluation on May 12, 2025 Published on May 27, 2025
  • Confirmation of HLA-II associations with TB susceptibility in admixed African samples

    This article's authors
    1. Dayna Croock
    2. Yolandi Swart
    3. Haiko Schurz
    4. Desiree C. Petersen
    5. Marlo Möller
    6. Caitlin Uren
    This article has 10 evaluations Latest evaluation on May 7, 2025 Published on Feb 20, 2025
  • Molecular Feature-Based Classification of Retroperitoneal Liposarcoma: A Prospective Cohort Study

    This article's authors
    1. Mengmeng Xiao
    2. Xiangji Li
    3. Fanqin Bu
    4. Shixiang Ma
    5. Xiaohan Yang
    6. Jun Chen
    7. Yu Zhao
    8. Ferdinando Cananzi
    9. Chenghua Luo
    10. Li Min
    This article has 9 evaluations Latest evaluation on Apr 30, 2025 Published on Mar 6, 2025
  • Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations

    This article's authors
    1. Boris Noyvert
    2. A Mesut Erzurumluoglu
    3. Dmitriy Drichel
    4. Steffen Omland
    5. Till F M Andlauer
    6. Stefanie Mueller
    7. Lau Sennels
    8. Christian Becker
    9. Aleksandr Kantorovich
    10. Boris A Bartholdy
    11. Ingrid Brænne
    12. Julio Cesar Bolivar-Lopez
    13. Costas Mistrellides
    14. Gillian M Belbin
    15. Jeremiah H Li
    16. Joseph K Pickrell
    17. Jatin Arora
    18. Yao Hu
    19. Boehringer Ingelheim – Global Computational Biology and Digital Sciences
    20. Clive R Wood
    21. Jan M Kriegl
    22. Nikhil Podduturi
    23. Jan N Jensen
    24. Jan Stutzki
    25. Zhihao Ding
    This article has 4 evaluations Latest evaluation on Apr 11, 2025 Published on Mar 13, 2025
  • A Titin Missense Variant Causes Atrial Fibrillation

    This article's authors
    1. Mahmud Arif Pavel
    2. Hanna Chen
    3. Michael Hill
    4. Arvind Sridhar
    5. Miles Barney
    6. Jaime DeSantiago
    7. Asia Owais
    8. Shashank Sandu
    9. Faisal A. Darbar
    10. Aylin Ornelas-Loredo
    11. Bahaa Al-Azzam
    12. Brandon Chalazan
    13. Jalees Rehman
    14. Dawood Darbar
    This article has 5 evaluations Latest evaluation on Mar 17, 2025 Published on Dec 8, 2024
  • JAK inhibition decreases the autoimmune burden in Down syndrome

    This article's authors
    1. Angela L. Rachubinski
    2. Elizabeth Wallace
    3. Emily Gurnee
    4. Belinda A. Enriquez Estrada
    5. Kayleigh R. Worek
    6. Keith P. Smith
    7. Paula Araya
    8. Katherine A. Waugh
    9. Ross E. Granrath
    10. Eleanor Britton
    11. Hannah R. Lyford
    12. Micah G. Donovan
    13. Neetha Paul Eduthan
    14. Amanda A. Hill
    15. Barry Martin
    16. Kelly D. Sullivan
    17. Lina Patel
    18. Deborah J. Fidler
    19. Matthew D. Galbraith
    20. Cory A. Dunnick
    21. David A. Norris
    22. Joaquin M. Espinosa
    This article has 10 evaluations Latest evaluation on Nov 27, 2024 Published on Oct 16, 2024
  • Low-dose chemotherapy combined with delayed immunotherapy in the neoadjuvant treatment of non-small cell lung cancer and dynamic monitoring of the drug response in peripheral blood

    This article's authors
    1. Chaoyang Liang
    2. Qi Song
    3. Wenhao Zhou
    4. Na Li
    5. Qi Xiong
    6. Chaohu Pan
    7. Shaohong Zhao
    8. Xiang Yan
    9. Xiaoling Zhang
    10. Yaping Long
    11. Juntang Guo
    12. Tao Wang
    13. Weiwei Shi
    14. Shengjie Sun
    15. Bo Yang
    16. Zhouhuan Dong
    17. Haitao Luo
    18. Jie Li
    19. Yi Hu
    20. Bo Yang
    This article has 3 evaluations Latest evaluation on Nov 22, 2024 Published on Apr 15, 2025
Next
Stay updated. Get involved.
Subscribe to Mailing List
  • Blog
  • About Sciety
  • Contact
  • Follow us on Twitter
  • Follow us on Facebook
© 2022 eLife Sciences Publications Ltd. Legal information