Concepedia

Founder Variant Interpretation

Founder Variant Interpretation is a scholarly contribution that constitutes an original method, model, framework, theory, construct, dataset, task, or metric introduced within the academic domain of Variant Interpretation and serves as the foundational work from which subsequent variants or developments in the field derive.

5

Publications

161

Citations

56

Authors

33

Institutions

Publications per year

2017–2026

4

Parents

Publications

5

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies

Lance H. Rodan, Marissa Hauptman, Alissa M. D’Gama et al. · Molecular Genetics and Metabolism · 2018 · 51 citations

, , +9

Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients’ cohort from Qatar. A population specific founder variant

Alice Abdel Aleem, Mahmoud F. Elsaid, Nader Chalhoub et al. · Neuromuscular Disorders · 2020 · 40 citations

, , +13

Genomewide association study identifies no major founder variant in Caucasian moyamoya disease

Wanyang Liu, Toshiaki Hitomi, Hatasu Kobayashi et al. · Journal of Genetics · 2013 · 36 citations

, , +10

Globally Rare BRCA2 Variants With Founder Haplotypes in the South African Population: Implications for Point-of-Care Testing Based on a Single-Institution BRCA1/2 Next-Generation Sequencing Study

Jaco Oosthuizen, Maritha J. Kotze, Nicole van der Merwe et al. · Frontiers in Oncology · 2021 · 22 citations · Full text

, , +17

Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene

Nikolay A. Barashkov, Fedor A. Konovalov, Tuyara V. Borisova et al. · European Journal of Human Genetics · 2021 · 12 citations · Full text

, , +15

1–5 of 5

Authors

56

  1. KI
    Khalid Ibrahim

    Hamad Medical Corporation, Qatar

    1 publications · 40 citations

    1

    h-index

  2. TV
    Tuyara V. Borisova

    North-Eastern Federal University, Russia

    1 publications · 12 citations

    1

    h-index

  3. AV
    Aisen V. Solovyev

    North-Eastern Federal University, Russia

    1 publications · 12 citations

    1

    h-index

  4. AQ
    Anita Qualls

    University of Georgia, United States

    1 publications · 51 citations

    1

    h-index

  5. NV
    Nadejda V. Sapojnikova

    North-Eastern Federal University, Russia

    1 publications · 12 citations

    1

    h-index

1–5 of 56

Institutions

33

  1. Weill Cornell Medical College in Qatar

    Doha, Qatar

    1 h-index

    1 publications

    40 citations

  2. VA New England Healthcare System

    Bedford, United States

    1 h-index

    2 publications

    102 citations

  3. Cape Town Science Centre

    Cape Town, South Africa

    1 h-index

    2 publications

    44 citations

  4. University Hospital Brno

    Brno, Czechia

    1 h-index

    1 publications

    36 citations

  5. Children's National

    Washington, United States

    1 h-index

    1 publications

    51 citations

  6. University of Antwerp

    Antwerp, Belgium

    1 h-index

    1 publications

    36 citations

  7. Cornell University

    Ithaca, United States

    1 h-index

    5 publications

    200 citations

  8. Institute of Chemical Biology and Fundamental Medicine

    Novosibirsk, Russia

    1 h-index

    2 publications

    24 citations

1–8 of 33

Venues

  1. Journal of Genetics

    1 publications · 36 citations

    1

    h-index

  2. Neuromuscular Disorders

    1 publications · 40 citations

    1

    h-index

  3. Frontiers in Oncology

    1 publications · 22 citations

    1

    h-index

  4. Molecular Genetics and Metabolism

    1 publications · 51 citations

    1

    h-index

  5. European Journal of Human Genetics

    EJHG · 1 publications · 12 citations

    1

    h-index

1–5