Joseph J Shen

Title(s)Associate Professor, Pediatrics
SchoolUniversity of California, Davis
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants. BMC Med Genomics. 2021 07 15; 14(1):186. Higa LA, Wardley J, Wardley C, Singh S, Foster T, Shen JJ. PMID: 34266427.
      View in: PubMed   Mentions:    Fields:    
    2. Response to Biesecker et al. Genet Med. 2021 04; 23(4):793-794. Shen JJ, Wortmann SB, Kluijtmans LAJ, Collins CD, van der Lee R, van Karnebeek CDM, Hegde MR. PMID: 33420347.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    3. A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy. J Pediatr Gastroenterol Nutr. 2020 12; 71(6):726-730. Shen JJ, Davis JL, Hong X, Laningham FH, Gelb MH, Kim GE. PMID: 32740531.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. The role of clinical response to treatment in determining pathogenicity of genomic variants. Genet Med. 2021 03; 23(3):581-585. Shen JJ, Wortmann SB, de Boer L, Kluijtmans LAJ, Huigen MCDG, Koch J, Ross S, Collins CD, van der Lee R, van Karnebeek CDM, Hegde MR. PMID: 33087887.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    5. Identifying and Addressing Genetic Counseling Challenges among Indigenous People of Oaxaca-One Center's Experience with Two Immigrant Farmworker Families in the Central Valley of California. J Genet Couns. 2018 08; 27(4):996-1004. Shen JJ, Carmichael J, Vásquez Santos L. PMID: 29397479.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    6. Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med. 2005 Sep; 7(7):479-83. Kurotaki N, Shen JJ, Touyama M, Kondoh T, Visser R, Ozaki T, Nishimoto J, Shiihara T, Uetake K, Makita Y, Harada N, Raskin S, Brown CW, Höglund P, Okamoto N, Lupski JR. PMID: 16170239.
      View in: PubMed   Mentions: 24     Fields:    Translation:Humans
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