Concepedia

Inherited Variants

Inherited Variants is a genetic alteration in DNA sequence that is passed from parent to offspring and contributes to the etiology of pediatric cardiac disorders through germline transmission.

628

Publications

32.3K

Citations

6.4K

Authors

1.6K

Institutions

Publications per year

2017–2026

204

Parents

Publications

628

Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors

Nada Al Tassan, Nikolas H. Chmiel, Julie Maynard et al. · Nature Genetics · 2002 · 1.4K citations

, , +16

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Sheng Chih Jin, Jason Homsy, Samir Zaidi et al. · Nature Genetics · 2017 · 928 citations · Full text

, , +12

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Connie R. Bezzina, Julien Barc, Yuka Mizusawa et al. · Nature Genetics · 2013 · 546 citations

, , +13

Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing

Diana Mandelker, Liying Zhang, Yelena Kemel et al. · JAMA · 2017 · 523 citations

, , +17

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

Xueya Zhou, Pamela Feliciano, Chang Shu et al. · Nature Genetics · 2022 · 461 citations · Full text

, , +17

1–5 of 628

Authors

6.4K

  1. EG
    Elizabeth Goldmuntz

    Children's Hospital of Philadelphia, United States

    10 publications · 1.5K citations

    10

    h-index

  2. WK
    Wendy K. Chung

    Columbia University, United States

    7 publications · 2K citations

    7

    h-index

  3. HH
    Håkon Håkonarson

    Children's Hospital of Philadelphia, United States

    7 publications · 543 citations

    7

    h-index

  4. JM
    Julie M. Cunningham

    Mayo Clinic, United States

    6 publications · 244 citations

    6

    h-index

  5. BL
    Brooke L. Fridley

    Mayo Clinic, United States

    6 publications · 282 citations

    6

    h-index

1–5 of 6.4K

Institutions

1.6K

  1. Inserm

    Paris, France

    23 h-index

    134 publications

    19.3K citations

  2. Harvard University

    Cambridge, United States

    19 h-index

    113 publications

    9.2K citations

  3. Children's Hospital of Philadelphia

    Philadelphia, United States

    18 h-index

    100 publications

    12.6K citations

  4. Boston Children's Hospital

    Boston, United States

    17 h-index

    86 publications

    14.2K citations

  5. Mayo Clinic

    Rochester, United States

    16 h-index

    114 publications

    5.3K citations

  6. University of Washington

    Seattle, United States

    16 h-index

    87 publications

    13.9K citations

  7. University of Pennsylvania

    Philadelphia, United States

    15 h-index

    40 publications

    3.7K citations

  8. Columbia University Irving Medical Center

    New York, United States

    15 h-index

    41 publications

    9.3K citations

1–8 of 1.6K

Venues

  1. PubMed

    Repository · 31 publications · 1.1K citations

    17

    h-index

  2. American Journal of Medical Genetics Part A

    23 publications · 709 citations

    16

    h-index

  3. Human Mutation

    18 publications · 863 citations

    15

    h-index

  4. Clinical Genetics

    13 publications · 539 citations

    13

    h-index

  5. Journal of Medical Genetics

    JMG · 12 publications · 544 citations

    12

    h-index

1–5