Lauren Lulis

TitleAdjunct Faculty
InstitutionThomas Jefferson University
DepartmentJefferson College of Life Scie
Address1020 Locust St.
Philadelphia PA 19107
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    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. Iwata-Otsubo A, Skraban CM, Yoshimura A, Sakata T, Alves CAP, Fiordaliso SK, Kuroda Y, Vengoechea J, Grochowsky A, Ernste P, Lulis L, Nesbitt A, Tayoun AA, Gray C, Towne MC, Radtke K, Normand EA, Rhodes L, Seiler C, Shirahige K, Izumi K. Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder. Hum Genet. 2024 Mar 23. PMID: 38520561.
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    2. Reichert SL, Dechene E, Lulis L, Valverde K, Conway L, Dulik M. Leveling the field: Development of an asynchronous interactive module series for genetic counseling trainees on molecular testing and variant interpretation. J Genet Couns. 2024 Jan 10. PMID: 38197609.
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    3. Grand K, Skraban CM, Cohen JL, Dowsett L, Mazzola S, Tarpinian J, Bedoukian E, Nesbitt A, Denenberg B, Lulis L, Santani A, Zackai EH, Deardorff MA. Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome. Am J Med Genet A. 2021 09; 185(9):2766-2775. PMID: 34160123.
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    4. Dowsett L, Lulis L, Ficicioglu C, Cuddapah S. Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency. Int J Neonatal Screen. 2017 Jun; 3(2). PMID: 28748224.
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    5. Chung WK, Martin K, Jalas C, Braddock SR, Juusola J, Monaghan KG, Warner B, Franks S, Yudkoff M, Lulis L, Rhodes RH, Prasad V, Torti E, Cho MT, Shinawi M. Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. J Med Genet. 2015 Sep; 52(9):627-35. PMID: 26185144.
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