Victoria R. Sanders, MS, LCGC
About Victoria R. Sanders
Titles
Genetic Counselor
Certifications
Licensed Certified Genetic Counselor (LCGC)
Editorial and Academic Positions
Academic and Institutional Committees
2022-present, Orientation and Mentorship Committee, Section of Genetic Counseling, Committee Co-chair
Education & training
Undergraduate Degree
BS in Biological Sciences - Cornell University, Ithaca, NY
Graduate Degree
MS in Genetic Counseling - Arcadia University, Glenside, PA
Publications
Publications
2021
Ing A, Wlodaver A, Kirschmann D, Toledo E, McCabe C, Kadri S, McIntyre MK, Salazar J, Firestein K, Charrow J, Sanders V, Laguna T, Yap KL. Transcript analysis for variant classification resolution in a child with primary ciliary dyskinesia. Cold Spring Harb Mol Case Stud. 2021 Feb 19;7(1):a005363. doi: 10.1101/mcs.a005363. PMID: 33608380; PMCID: PMC7903884.
Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, ... Sanders VR, et al. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001. PMID: 33961779; PMCID: PMC8206167.
Nriagu BN, Sanders VR, Bercovitch L, Snyder K, Cross EA, Treat JR, Sheppard SE. Misdiagnosis of capillary malformations in darker skin phototypes. Pediatr Dermatol. 2021 Nov;38 Suppl 2:137-139. doi: 10.1111/pde.14787. Epub 2021 Sep 28. PMID: 34585435.
Sheppard SE, Sanders VR, Srinivasan A, Finn LS, Adams D, Elton A, Amlie-Lefond C, Nelson Z, Dmyterko V, Jensen D, Zenner K, Perkins J, Bennett JT. Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in PIK3CA. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006147. doi: 10.1101/mcs.a006147. PMID: 34887309; PMCID: PMC8751408.
2020
Bryant EM, Millichap JJ, Spinelli E, Calhoun JD, Miller C, Giannelli J, Wolak J, Sanders V, Carvill GL, Charrow J. Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation. Am J Med Genet A. 2020 Jun;182(6):1460-1465. doi: 10.1002/ajmg.a.61553. Epub 2020 Apr 8. PMID: 32267060.
Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, ... Sanders V, et al. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med. 2020 Jul;22(7):1215-1226. doi: 10.1038/s41436-020-0792-7. Epub 2020 May 7. PMID: 32376980; PMCID: PMC8093014.
2019
Jansen S, van der Werf IM, Innes AM, Afenjar A, Agrawal PB, ... Sanders V, et al. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. Eur J Hum Genet. 2019 May;27(5):738-746. doi: 10.1038/s41431-018-0292-2. Epub 2019 Jan 24. PMID: 30679813; PMCID: PMC6462006.
2018
Sanders VR, Sheldon SH, Charrow J. Cervical spinal cord compression in infants with achondroplasia: Should neuroimaging be routine? Genetics in Medicine. 2018 Jun 5. doi: 10.1038/s41436-018-0070-0. [Epub ahead of print]
Blok LS, Hiatt SM, Bowling KM, Prokop JW, Engel KL, ... Sanders V, et al. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Human Genetics. (2018) 137:375–388.
2017
Zhou Y, Wojcik, A, Sanders, VR; Rahmani B, Kurup SP. Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant. International Ophthalmology. Epub ahead of print: 22 October 2017. DOI 10.1007/s10792-017-0754-5
2016
Millan F, Cho M, Retterer K, Monaghan K, Bai R, Vitazka P, Everman D, Smith B, Angle B, Roberts V, Immken L, Nagakura H, DiFazio M, Sherr E, Haverfield E, Friedman B, Telegrafi A, Juusola J, Chung W, Bale S. Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder. AJMG Part A. 2016 Jul; 170(7): 1791-8.
Beck D, Cho M, Millan F, Yates C, Hannibal M, O’Connor B, Shinawi M, Connolly A, Waggoner D, Halbach S, Angle B, Sanders V, Shen Y, Retterer K, Begtrup A, Bai R, Chung W. A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia and tooth enamel defects. Neurogenetics. 2016 Jul; 17(3): 173-8.
2012
Rosenfeld J, Traylor R, Schaefer GB, McPherson E, Ballif B, Klopocki E, Mundlos S, Shaffer L, and Aylsworth A, 1q21.1 Study Group. Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. Eur J Hum Genet. 2012 Jul; 20(7): 754-61.
2005
Lawrence EJ, Dentcheva E, Curtis KM, Roberts VL, Siman R, Neumar RW. Neuroprotection with delayed initiation of prolonged hypothermia after in vitro transient global brain ischemia. Resuscitation. 2005 Mar; 64(3): 383-8.
Siman R, Zhang C, Roberts VL, Pitts-Kiefer A, Neumar RW. Novel surrogate markers for acute brain damage: cerebrospinal fluid levels correlate with severity of ischemic neurodegeneration in the rat. J Cereb Blood Flow Metab. 2005 Nov; 25(11): 1433-44.
2004
Beiting DP, Bliss SK, Schlafer DH, Roberts VL, Appleton JA. Interleukin-10 limits local and body cavity inflammation during infection with muscle-stage Trichinella spiralis. Infect Immun. 2004 Jun; 72(6): 3129-37.
Siman R, McIntosh TK, Soltesz KM, Chen Z, Neumar RW, Roberts VL. Proteins released from degenerating neurons are surrogate markers for acute brain damage. Neurobiol Dis. 2004 Jul; 16(2): 311-20.