VictoriaZurcherMD

PubMed

• 12 citations
  EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
  Jennifer L. Cohen, Samantha A. Schrier Vergano, Sarah Mazzola, Alanna Strong, Beth Keena, Carey McDougall, Alyssa Ritter, Dong Li, Emma Bedoukian, Leah W. Burke, Amber...> ;American Journal of Medical Genetics. Part A. 2020 Oct 11
• 113 citations
  Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
  Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P. Bar...> ;American Journal of Human Genetics. 2018 Jan 4
• 65 citations
  Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
  Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Armfield Uhas, Linlea Armstrong, Katherine A. Bosanko, Dus...> ;Human Mutation. 2020 Jan 1
• 38 citations
  Cohesin complex-associated holoprosencephaly
  Paul Kruszka, Seth I. Berger, Valentina Casa, Mike R. Dekker, Jenna Gaesser, Karin Weiss, Ariel F. Martinez, David R. Murdock, Raymond J. Louie, Eloise J. Prijoles, An...> ;Brain. 2019 Sep 1
• Molecular and cytogenetic analysis of familial Xp deletions.
  Wandstrat, A. E., Conroy, J. M., Zurcher, V. L., Pasztor, L. M., Clark, B. A., Zackowski, J. L., Schwartz, S.> ;Am J Med Genet. 2000 Sep 11
• Suppression of lymphocyte reactivity in vitro by porcine allantoic and amniotic fluids.
  Murray, F. A., Zurcher, V., Grifo, A. P.> ;Theriogenology. 1979 Mar
• Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern.
  Wolff, D. J., Gustashaw, K. M., Zurcher, V., Ko, L., White, W., Weiss, L., Van Dyke, D. L., Schwartz, S., Willard, H. F.> ;Hum Genet. 1997 Aug
• Sex chromosome markers: characterization using fluorescence in situ hybridization and review of the literature.
  Schwartz, S., Depinet, T. W., Leana-Cox, J., Isada, N. B., Karson, E. M., Park, V. M., Pasztor, L. M., Sheppard, L. C., Stallard, R., Wolff, D. J., Zinn, A. B., Zurche...> ;Am J Med Genet. 1997 Jul 11
• Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation.
  Gustashaw, K. M., Zurcher, V., Dickerman, L. H., Stallard, R., Willard, H. F.> ;Am J Med Genet. 1994 Oct 15
• Distal deletion of the short arm of chromosome 6.
  Zurcher, V. L., Golden, W. L., Zinn, A. B.> ;Am J Med Genet. 1990 Feb
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