Joseph J Shen

Title(s)Associate Professor, Pediatrics
SchoolSchool of Medicine
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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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. Short Stature and Brachydactyly in an 8-year-old Girl with Congenital Hypothyroidism. Pediatr Rev. 2024 Apr 01; 45(4):234-238. Fujii QS, Shen JJ, Loomba LA. PMID: 38556508.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    2. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants. Am J Med Genet A. 2024 Mar; 194(3):e63445. Sewani S, Azamian MS, Mendelsohn BA, Mau-Them FT, Réda M, Nambot S, Isidor B, van der Smagt JJ, Shen JJ, Shillington A, White L, Elloumi HZ, Baker PR, Svihovec S, Brown K, Koopman-Keemink Y, Hoffer MJV, Lakeman IMM, Brischoux-Boucher E, Kinali M, Zhao X, Lalani SR, Scott DA. PMID: 37872713.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    3. 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; PMCID: PMC8281706.
      View in: PubMed   Mentions: 5     Fields:    
    4. 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
    5. 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; PMCID: PMC8045466.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    6. 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: 9     Fields:    Translation:Humans
    7. 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; PMCID: PMC6061092.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    8. BRAT1-related disease--identification of a patient without early lethality. Am J Med Genet A. 2016 Mar; 170(3):699-702. Mundy SA, Krock BL, Mao R, Shen JJ. PMID: 26494257.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    9. Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes. Clin Dysmorphol. 2015 Apr; 24(2):55-60. Shen JJ. PMID: 25629734; PMCID: PMC4345968.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimals
    10. Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility. Eur J Hum Genet. 2015 May; 23(5):663-71. Wang JC, Ross L, Mahon LW, Owen R, Hemmat M, Wang BT, El Naggar M, Kopita KA, Randolph LM, Chase JM, Matas Aguilera MJ, Siles JL, Church JA, Hauser N, Shen JJ, Jones MC, Wierenga KJ, Jiang Z, Haddadin M, Boyar FZ, Anguiano A, Strom CM, Sahoo T. PMID: 25118026; PMCID: PMC4402629.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    11. Activin signaling: effects on body composition and mitochondrial energy metabolism. Endocrinology. 2009 Aug; 150(8):3521-9. Li L, Shen JJ, Bournat JC, Huang L, Chattopadhyay A, Li Z, Shaw C, Graham BH, Brown CW. PMID: 19389832; PMCID: PMC2717868.
      View in: PubMed   Mentions: 24     Fields:    Translation:Animals
    12. Deficiency of growth differentiation factor 3 protects against diet-induced obesity by selectively acting on white adipose. Mol Endocrinol. 2009 Jan; 23(1):113-23. Shen JJ, Huang L, Li L, Jorgez C, Matzuk MM, Brown CW. PMID: 19008465; PMCID: PMC2646597.
      View in: PubMed   Mentions: 31     Fields:    Translation:AnimalsCells
    13. 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: 25     Fields:    Translation:Humans
    14. Terminal deletion of chromosome 15q26.1: case report and brief literature review. J Perinatol. 2005 Jun; 25(6):429-32. Bhakta KY, Marlin SJ, Shen JJ, Fernandes CJ. PMID: 15843813.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    15. Low factor XII level in an individual with Sotos syndrome. Pediatr Blood Cancer. 2005 Feb; 44(2):187-9. Shen JJ, Kurotaki N, Patel A, Lupski JR, Brown CW. PMID: 15390361.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    16. Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation. Am J Med Genet A. 2003 Apr 15; 118A(2):384-9. McCormack WM, Shen JJ, Curry SM, Berend SA, Kashork C, Pinar H, Potocki L, Bejjani BA. PMID: 12698964.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
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