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Robert and Janice McNair Foundation

RA

Statistics

Publications

47

Citations

966

Authors

4

Location

Houston, United States

Robert and Janice McNair Foundation is a nonprofit institution in Houston, United States known for medicine, genetics, and neurogenetics.

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Publications

47

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

David R. Murdock, Hongzheng Dai, Lindsay C. Burrage et al. · Journal of Clinical Investigation · 2020 · 168 citations · Full text

Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy

Wu Chen, Zhao‐Lin Cai, Eugene Chao et al. · eLife · 2020 · 81 citations · Full text

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews et al. · Cell Reports · 2022 · 51 citations · Full text

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De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy

Hyung-Lok Chung, Xiao Mao, Hua Wang et al. · The American Journal of Human Genetics · 2020 · 43 citations · Full text

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DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Alexandria T.M. Blackburn, Nasim Bekheirnia, Vanessa C. Uma et al. · Genetics in Medicine · 2019 · 37 citations · Full text

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Authors

4

  1. JC
    Jefferson C. Sinson

    Robert and Janice McNair Foundation, United States

    4 publications · 36 citations

    2

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  2. IA
    Isphana A. F. Contractar

    Robert and Janice McNair Foundation, United States

    1 publications · 21 citations

    1

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  3. LF
    Leah Ferrante

    Robert and Janice McNair Foundation, United States

    3 publications · 18 citations

    1

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  4. MN
    M. Nguyen

    Robert and Janice McNair Foundation, United States

    5 publications · 22 citations

    1

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