Debra-LynnElyseDay-SalvatoreMDPhD, FAAP, FACMG

PubMed

• 3 citations
  The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
  Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, S...> ;Brain. 2023 Aug 1
• 15 citations
  De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
  Xiangbin Jia, Shujie Zhang, Senwei Tan, Bing Du, Mei He, Haisong Qin, Jia Chen, Xinyu Duan, Jingsi Luo, Fei Chen, Luping Ouyang, Jian Wang, Guodong Chen, Bin Yu, Ge Zh...> ;Science Advances. 2022 Aug 19
• 8 citations
  Clinical, Biochemical and Molecular Characteristics of malonyl-CoA Decarboxylase Deficiency and Long-Term Follow-Up of Nine Patients
  Cristel C. Chapel-Crespo, Dimitar Gavrilov, Mary Sowa, Jessica Myers, Debra-Lynn Day-Salvatore, Haley Lynn, Debra S Regier, Danielle Starin, Maija R. Steenari, Kees Sc...> ;Molecular Genetics and Metabolism. 2019 Jan 1
• Case 1: Microcephaly, Skeletal Dysplasia, and Immunodeficiency in a Newborn
  Tarek Belal, Debra-Lynn Day-Salvatore, Janet Malcolmson> ;Pediatrics in Review. 2018 Jul 1
• 1 citations
  Case 6: Seizures and Low Cerebrospinal Fluid Glucose in a 4-day-old Boy.
  Tarek A. Belal, Debra-Lynn Day-Salvatore, Shakuntala Chandra> ;Pediatrics in Review. 2018 May 1
• 30 citations
  Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.
  Gerarda Cappuccio, Michele Pinelli, Marianna Alagia, Taraka R. Donti, Debra-Lynn Day-Salvatore, Pierangelo Veggiotti, Valentina De Giorgis, Simona Lunghi, Maria Stella...> ;Plos One. 2017 Sep 29
• 4 citations
  The Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening.
  Andrea M. Atherton, Debra L. Day-Salvatore> ;Pediatrics. 2017 Jul 1
• 45 citations
  Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia
  Elizabeth J. Bhoj, Dong Li, Margaret Harr, Shimon Edvardson, Orly Elpeleg, Elizabeth Chisholm, Jane Juusola, Ganka Douglas, Maria J. Guillen Sacoto, Karine Siquier-Per...> ;American Journal of Human Genetics. 2016 Apr 7
• Increased LIS1 expression affects human and mouse brain development.
  Bi, W., Sapir, T., Shchelochkov, O. A., Zhang, F., Withers, M. A., Hunter, J. V., Levy, T., Shinder, V., Peiffer, D. A., Gunderson, K. L., Nezarati, M. M., Shotts, V. ...> ;Nat Genet. 2009 Feb 01
• Indication-specific accuracy of second-trimester genetic ultrasonography for the detection of trisomy 21.
  Vintzileos, A. M., Guzman, E. R., Smulian, J. C., Day-Salvatore, D. L., Knuppel, R. A.> ;Am J Obstet Gynecol. 1999 Nov
• Prenatal detection of fetal trisomy 18 through abnormal sonographic features.
  Yeo, L., Guzman, E. R., Day-Salvatore, D., Walters, C., Chavez, D., Vintzileos, A. M.> ;J Ultrasound Med. 2003 Jun
• Prenatal detection of fetal aneuploidy by sonographic ear length.
  Yeo, L., Guzman, E. R., Ananth, C. V., Walters, C., Day-Salvatore, D., Vintzileos, A. M.> ;J Ultrasound Med. 2003 Jun
• Prenatal sonographic findings associated with nonmosaic trisomy 9 and literature review.
  Yeo, L., Waldron, R., Lashley, S., Day-Salvatore, D., Vintzileos, A. M.> ;J Ultrasound Med. 2003 Apr
• Genetics casebook. Duplication-deletion syndromes.
  Day-Salvatore, D. L., Guzman, E., Farren-Chavez, D., Sciorra, L., Knuppel, R.> ;J Perinatol. 1995 Jul 01
• Genetics casebook. Amniotic band disruption sequence.
  Day-Salvatore, D. L., Guzman, E., Weinberger, B., Shen-Schwartz, S., Houlihan, C.> ;J Perinatol. 1995 Jan 01
• Cost-benefit analysis of prenatal diagnosis for Down syndrome using the British or the American approach.
  Vintzileos, A. M., Ananth, C. V., Smulian, J. C., Day-Salvatore, D. L., Beazoglou, T., Knuppel, R. A.> ;Obstet Gynecol. 2000 Apr
• Genetics casebook. Pyloric atresia.
  Pellegrino, J. E., Day-Salvatore, D., White, M., Fisher, A. J., Anwar, M., Krasna, I. H.> ;J Perinatol. 1999 Jan
• Prenatal ultrasonographic demonstration of the trident hand in heterozygous achondroplasia.
  Guzman, E. R., Day-Salvatore, D., Westover, T., Rosenberg, J. C., Beim, D., Grabelle, H.> ;J Ultrasound Med. 1994 Jan
• The prenatal ultrasonographic visualization of imperforate anus in monoamniotic twins.
  Guzman, E. R., Ranzini, A., Day-Salvatore, D., Weinberger, B., Spigland, N., Vintzileos, A.> ;J Ultrasound Med. 1995 Jul
• Low level mosaicism for a balanced 7;14 translocation in the father of an abnormal 7q+ child.
  Sciorra, L. J., Schlenker, E., Toke, D., Brady-Yasbin, S., Day-Salvatore, D., Lee, M. L.> ;Am J Med Genet. 1992 Feb 1
• GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.
  Li, M., Shuman, C., Fei, Y. L., Cutiongco, E., Bender, H. A., Stevens, C., Wilkins-Haug, L., Day-Salvatore, D., Yong, S. L., Geraghty, M. T., Squire, J., Weksberg, R.> ;Am J Med Genet. 2001 Aug 1
• Oculo-palatal-cerebral syndrome: a second case.
  Pellegrino, J. E., Engel, J. M., Chavez, D., Day-Salvatore, D.> ;Am J Med Genet. 2001 Mar 15
• Sonographic identification of fetuses with Down syndrome in the third trimester: a matched control study.
  Ranzini, A. C., Guzman, E. R., Ananth, C. V., Day-Salvatore, D., Fisher, A. J., Vintzileos, A. M.> ;Obstet Gynecol. 1999 May
• Economic evaluation of prenatal carrier screening for fragile X syndrome.
  Vintzileos, A. M., Ananth, C. V., Fisher, A. J., Smulian, J. C., Day-Salvatore, D., Beazoglou, T., Knuppel, R. A.> ;J Matern Fetal Med. 1999 Jul 01
• Cost-benefit analysis of targeted ultrasonography for prenatal detection of spina bifida in patients with an elevated concentration of second-trimester maternal serum ...
  Vintzileos, A. M., Ananth, C. V., Fisher, A. J., Smulian, J. C., Day-Salvatore, D., Beazoglou, T., Knuppel, R. A.> ;Am J Obstet Gynecol. 1999 May
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