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Genetic and Genomic Medicine

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Showing page 2 of 22 pages of list content

  • Genotype-specific differences in infertile men due to loss-of-function variants inM1APorZZSgenes

    This article's authors
    1. Nadja Rotte
    2. Jessica E.M. Dunleavy
    3. Michelle D. Runkel
    4. Daniela Fietz
    5. Adrian Pilatz
    6. Johanna Kuss
    7. Ann-Kristin Dicke
    8. Sofia B. Winge
    9. Sara Di Persio
    10. Christian Ruckert
    11. Verena Nordhoff
    12. Hans-Christian Schuppe
    13. Kristian Almstrup
    14. Sabine Kliesch
    15. Nina Neuhaus
    16. Birgit Stallmeyer
    17. Moira K. O’Bryan
    18. Frank Tüttelmann
    19. Corinna Friedrich
    This article has 4 evaluations Latest evaluation on Jul 4, 2024 Published on Jul 1, 2024
  • Genomic landscape of endometrial, ovarian and cervical cancers in Japan from database in the Center for Cancer Genomics and Advanced Therapeutics

    This article's authors
    1. Qian Xi
    2. Hidenori Kage
    3. Miho Ogawa
    4. Asami Matsunaga
    5. Akira Nishijima
    6. Kenbun Sone
    7. Kei Kawana
    8. Katsutoshi Oda
    This article has 1 evaluations Latest evaluation on Jul 3, 2024 Published on Oct 9, 2023
  • Ethnic and region-specific genetic risk variants of stroke and its comorbid conditions may better define the variations in the burden of stroke and its phenotypic traits

    This article's authors
    1. Rashmi Sukumaran
    2. Achuthsankar S Nair
    3. Moinak Banerjee
    This article has 7 evaluations Latest evaluation on Jun 18, 2024 Published on Apr 9, 2024
  • Risk factors affecting polygenic score performance across diverse cohorts

    This article's authors
    1. Daniel Hui
    2. Scott Dudek
    3. Krzysztof Kiryluk
    4. Theresa L. Walunas
    5. Iftikhar J. Kullo
    6. Wei-Qi Wei
    7. Hemant K. Tiwari
    8. Josh F. Peterson
    9. Wendy K. Chung
    10. Brittney Davis
    11. Atlas Khan
    12. Leah Kottyan
    13. Nita A. Limdi
    14. Qiping Feng
    15. Megan J. Puckelwartz
    16. Chunhua Weng
    17. Johanna L. Smith
    18. Elizabeth W. Karlson
    19. Regeneron Genetics Center
    20. Gail P. Jarvik
    21. Marylyn D. Ritchie
    This article has 8 evaluations Latest evaluation on Jun 11, 2024 Published on Apr 10, 2024
  • De novovariants inPLCG1are associated with hearing impairment, ocular pathology, and cardiac defects

    This article's authors
    1. Mengqi Ma
    2. Yiming Zheng
    3. Shenzhao Lu
    4. Xueyang Pan
    5. Kim C. Worley
    6. Lindsay C. Burrage
    7. Lauren S. Blieden
    8. Aimee Allworth
    9. Wei-Liang Chen
    10. Giuseppe Merla
    11. Barbara Mandriani
    12. Jill A. Rosenfeld
    13. David Li-Kroeger
    14. Debdeep Dutta
    15. Shinya Yamamoto
    16. Michael F. Wangler
    17. Undiagnosed Diseases Network
    18. Ian A. Glass
    19. Sam Strohbehn
    20. Elizabeth Blue
    21. Paolo Prontera
    22. Seema R. Lalani
    23. Hugo J. Bellen
    This article has 4 evaluations Latest evaluation on Apr 18, 2024 Published on Jan 9, 2024
  • Discovery of runs-of-homozygosity diplotype clusters and their associations with diseases in UK Biobank

    This article's authors
    1. Ardalan Naseri
    2. Degui Zhi
    3. Shaojie Zhang
    This article has 5 evaluations Latest evaluation on Apr 15, 2024 Published on Oct 27, 2020
  • Explaining the counter-intuitive effectiveness of trophectoderm biopsy for PGT-A using computational modelling

    This article's authors
    1. Benjamin M Skinner
    2. Manuel Viotti
    3. International Registry of Mosaic Embryo Transfers (IRMET)
    4. Darren K Griffin
    5. Peter JI Ellis
    This article has 5 evaluations Latest evaluation on Apr 11, 2024 Published on Dec 13, 2023
  • Allelic strengths of encephalopathy-associatedUBA5variants correlate betweenin vivoandin vitroassays

    This article's authors
    1. Xueyang Pan
    2. Albert N. Alvarez
    3. Mengqi Ma
    4. Shenzhao Lu
    5. Michael W. Crawford
    6. Lauren C. Briere
    7. Oguz Kanca
    8. Shinya Yamamoto
    9. David A. Sweetser
    10. Jenny L. Wilson
    11. Ruth J. Napier
    12. Jonathan N. Pruneda
    13. Hugo J. Bellen
    This article has 10 evaluations Latest evaluation on Nov 3, 2023 Published on Oct 2, 2023
  • Novel discoveries and enhanced genomic prediction from modelling genetic risk of cancer age-at-onset

    This article's authors
    1. Ekaterina S. Maksimova
    2. Sven E. Ojavee
    3. Kristi Läll
    4. Marie C. Sadler
    5. Reedik Mägi
    6. Zoltan Kutalik
    7. Matthew R. Robinson
    This article has 3 evaluations Latest evaluation on Oct 6, 2023 Published on Jun 6, 2023
  • Multi-omics analysis in human retina uncovers ultraconservedcis-regulatory elements at rare eye disease loci

    This article's authors
    1. Victor Lopez Soriano
    2. Alfredo Dueñas Rey
    3. Rajarshi Mukherjee
    4. Genomics England Research Consortium
    5. Frauke Coppieters
    6. Miriam Bauwens
    7. Andy Willaert
    8. Elfride De Baere
    This article has 4 evaluations Latest evaluation on Sep 26, 2023 Published on Oct 10, 2023
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