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Genetic and Genomic Medicine

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Showing page 7 of 23 pages of list content

  • Reserpine maintains photoreceptor survival in retinal ciliopathy by resolving proteostasis imbalance and ciliogenesis defects

    This article's authors
    1. Holly Y. Chen
    2. Manju Swaroop
    3. Samantha Papal
    4. Anupam K. Mondal
    5. Gregory J. Tawa
    6. Florian Regent
    7. Hiroko Shimada
    8. Kunio Nagashima
    9. Natalia de Val
    10. Samuel G. Jacobson
    11. Wei Zheng
    12. Anand Swaroop
    This article has 5 evaluations Latest evaluation on Feb 15, 2023 Published on Sep 18, 2022
  • Recessive pathogenic variants inMCATcause combined oxidative phosphorylation deficiency

    This article's authors
    1. Bryn D. Webb
    2. Sara M. Nowinski
    3. Ashley Solmonson
    4. Jaya Ganesh
    5. Richard J. Rodenburg
    6. João Leandro
    7. Anthony Evans
    8. Hieu S. Vu
    9. Thomas P. Naidich
    10. Bruce D. Gelb
    11. Ralph J. DeBerardinis
    12. Jared Rutter
    13. Sander M. Houten
    This article has 3 evaluations Latest evaluation on Jan 6, 2023 Published on Dec 9, 2022
  • Associations of genetic and infectious risk factors with coronary heart disease

    This article's authors
    1. Flavia Hodel
    2. Zhi Ming Xu
    3. Christian W. Thorball
    4. Roxane de La Harpe
    5. Prunelle Letang-Mathieu
    6. Nicole Brenner
    7. Julia Butt
    8. Noemi Bender
    9. Tim Waterboer
    10. Pedro Marques-Vidal
    11. Peter Vollenweider
    12. Julien Vaucher
    13. Jacques Fellay
    This article has 3 evaluations Latest evaluation on Dec 8, 2022 Published on Apr 13, 2022
  • Evaluating the effect of metabolic traits on oral and oropharyngeal cancer risk using Mendelian randomization

    This article's authors
    1. Mark Gormley
    2. Tom Dudding
    3. Steven J Thomas
    4. Jessica Tyrrell
    5. Andrew R Ness
    6. Miranda Pring
    7. Danny Legge
    8. George Davey Smith
    9. Rebecca C Richmond
    10. Emma E Vincent
    11. Caroline Bull
    This article has 3 evaluations Latest evaluation on Nov 24, 2022 Published on Aug 18, 2022
  • Regulatoryde novomutations underlying intellectual disability

    This article's authors
    1. Matias G De Vas
    2. Fanny Boulet
    3. Shweta S Joshi
    4. Myles G Garstang
    5. Tahir N. Khan
    6. Goutham Atla
    7. David Parry
    8. David Moore
    9. Inês Cebola
    10. Shuchen Zhang
    11. Wei Cui
    12. Anne K Lampe
    13. Wayne W Lam
    14. Genomics England Research Consortium
    15. Jorge Ferrer
    16. Madapura M Pradeepa
    17. Santosh S Atanur
    This article has 4 evaluations Latest evaluation on Nov 23, 2022 Published on Nov 17, 2022
  • Polygenic risk scores for the prediction of common cancers in East Asians: A population-based prospective cohort study

    This article's authors
    1. Peh Joo Ho
    2. Iain Bee Huat Tan
    3. Dawn Qingqing Chong
    4. Chiea Chuen Khor
    5. Jian-Min Yuan
    6. Woon-Puay Koh
    7. Rajkumar Dorajoo
    8. Jingmei Li
    This article has 3 evaluations Latest evaluation on Oct 30, 2022 Published on Sep 15, 2022
  • A Progeroid Syndrome Caused by RAF1 deficiency Underscores the importance of RTK signaling for Human Development

    This article's authors
    1. Samantha Wong
    2. Yu Xuan Tan
    3. Kiat Yi Tan
    4. Abigail Loh
    5. Zainab Aziz
    6. Engin Özkan
    7. Hülya Kayserili
    8. Nathalie Escande-Beillard
    9. Bruno Reversade
    This article has 4 evaluations Latest evaluation on Oct 20, 2022 Published on Mar 4, 2022
  • The missing link between genetic association and regulatory function

    This article's authors
    1. Noah Connally
    2. Sumaiya Nazeen
    3. Daniel Lee
    4. Huwenbo Shi
    5. John Stamatoyannopoulos
    6. Sung Chun
    7. Chris Cotsapas
    8. Christopher A. Cassa
    9. Shamil Sunyaev
    This article has 5 evaluations Latest evaluation on Oct 10, 2022 Published on Oct 13, 2022
  • The Genetic Risk of Gestational Diabetes in South Asian women

    This article's authors
    1. Amel Lamri
    2. Jayneel Limbachia
    3. Karleen M Schulze
    4. Dipika Desai
    5. Brian Kelly
    6. Russell J de Souza
    7. Guillaume Paré
    8. Deborah A Lawlor
    9. John Wright
    10. Sonia S Anand
    11. the Born in Bradford and START investigators
    This article has 3 evaluations Latest evaluation on Oct 5, 2022 Published on Jul 16, 2022
  • Phenome-wide Mendelian randomization study of plasma triglycerides and 2,600 disease traits

    This article's authors
    1. Joshua K. Park
    2. Shantanu Bafna
    3. Iain S. Forrest
    4. Áine Duffy
    5. Carla Marquez-Luna
    6. Ben O. Petrazzini
    7. Ha My Vy
    8. Daniel M. Jordan
    9. Marie Verbanck
    10. Jagat Narula
    11. Robert S. Rosenson
    12. Ghislain Rocheleau
    13. Ron Do
    This article has 5 evaluations Latest evaluation on Jan 30, 2023 Published on Jul 21, 2022
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