Sophia(Bous)HufnagelMD

PubMed

• 24 citations
  Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
  Joel J. Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C. Pyle, Dorothy K. Grange, Seth I. Berger, Katelyn Payne, Diane Masser-Frye, Tommy Hu, Michelle R. Christie, Nan...> ;American Journal of Human Genetics. 2020 Jan 2
• 44 citations
  Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome
  , , , , , , , , , , , , , , , , , , , , , , , > ;American Journal of Medical Genetics. Part A. 2018 Apr 1
• 21 citations
  Adolescents’ preferences regarding disclosure of incidental findings in genomic sequencing that are not medically actionable in childhood
  Sophia B. Hufnagel, Lisa J. Martin, Amy Cassedy, Robert J. Hopkin, Armand H. Matheny Antommaria> ;American Journal of Medical Genetics. Part A. 2016 Aug 1
• 35 citations
  Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome
  Sung-Kook Hong, Ping Hu, Juliana Marino, Sophia B. Hufnagel, Robert J. Hopkin, Alma Toromanović, Antonio Richieri-Costa, Lucilene Arilho Ribeiro-Bicudo, Paul Kruszka, ...> ;Human Molecular Genetics. 2016 Feb 29
• 14 citations
  Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease.
  Ives T. Villamizar-Schiller, Laudy A. Pabón, Sophia B. Hufnagel, Norma C. Serrano, Gabriela Karl, John L. Jefferies, Robert J. Hopkin, Carlos E. Prada> ;European Journal of Medical Genetics. 2015 Mar 1
• 14 citations
  A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia
  Sophia B. Hufnagel, K. Nicole Weaver, Robert B. Hufnagel, Patricia I. Bader, Elizabeth K. Schorry, Robert J. Hopkin> ;American Journal of Medical Genetics. Part A. 2014 Oct 1
• 5 citations
  Laboratory policies on reporting secondary findings in clinical whole exome sequencing: Initial uptake of the ACMG's recommendations
  Sophia B. Hufnagel, Armand H. Matheny Antommaria> ;American Journal of Medical Genetics. Part A. 2014 May 1
• Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature.
  Bous, S. M.,Solomon, B. D.,Graul-Neumann, L.,Neitzel, H.,Hardisty, E. E.,Muenke, M.> ;Clin. Dysmorphol.. 2012 May 31
• Analysis of component findings in 79 patients diagnosed with VACTERL association.
  Solomon, B. D., Pineda-Alvarez, D. E., Raam, M. S., Bous, S. M., Keaton, A. A., Vélez, J. I., Cummings, D. A.> ;Am J Med Genet A. 2010 Sep
• Consideration of VACTERL association in patients with trisomy 21.
  Solomon, B. D., Bous, S. M., Bianconi, S., Pineda-Alvarez, D. E.> ;Clin Dysmorphol. 2010 Oct
• Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
  Solomon, B. D., Lacbawan, F., Mercier, S., Clegg, N. J., Delgado, M. R., Rosenbaum, K., Dubourg, C., David, V., Olney, A. H., Wehner, L. E., Hehr, U., Bale, S., Paulus...> ;J Med Genet. 2010 Aug 01
• Join now to see all