Jessica S Shamshoni

Title(s)Assistant Adjunct Professor, Human Genetics
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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. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. Am J Hum Genet. 2021 07 01; 108(7):1330-1341. Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J, UCLA Clinical Genomics Center, Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. PMID: 34102099; PMCID: PMC8322935.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    2. 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients. Am J Med Genet A. 2021 05; 185(5):1519-1524. Eno CC, Graakjaer J, Svaneby D, Nizon M, Kianmahd J, Signer R, Martinez-Agosto JA, Quintero-Rivera F. PMID: 33634591.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    3. A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma. Pediatr Blood Cancer. 2020 03; 67(3):e28103. Crane JN, Chang VY, Yong WH, Salamon N, Hane Lee for UCLA Clinical Genomics Center, Kianmahd J, Dorrani N, Martinez-Agosto JA, Davidson TB. PMID: 31793173; PMCID: PMC7307637.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    4. Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California. Int J Neonatal Screen. 2019 Dec; 5(4):42. Schwan K, Youngblom J, Weisiger K, Kianmahd J, Waggoner R, Fanos J. PMID: 33073000; PMCID: PMC7510238.
      View in: PubMed   Mentions: 9  
    5. Patterns of Comorbidity Among Girls With ADHD: A Meta-analysis. Pediatrics. 2016 10; 138(4). Tung I, Li JJ, Meza JI, Jezior KL, Kianmahd JS, Hentschel PG, O'Neil PM, Lee SS. PMID: 27694280; PMCID: PMC9923580.
      View in: PubMed   Mentions: 32     Fields:    Translation:Humans
    6. Lynch syndrome patients' views of and preferences for return of results following whole exome sequencing. J Genet Couns. 2014 Aug; 23(4):539-51. Hitch K, Joseph G, Guiltinan J, Kianmahd J, Youngblom J, Blanco A. PMID: 24449059; PMCID: PMC4451087.
      View in: PubMed   Mentions: 29     Fields:    Translation:Humans