JessicaA.Scott SchwoererMD(She/Her)

PubMed

• Perspectives of genetic counseling supervisors regarding genetic counseling students' attainment of practice-based competencies in clinical care through remote supervi...
  Shane-Carson, K., Stone, L., Justice, K., Mwanda, S., Stagg, A., Pilditch, J., Hiner, S., Berry, S., Edick, M., Schwoerer, J.> ;Journal of Genetic Counseling. 2024 Feb 1
• Telemedicine in the Amish and Mennonite communities of Wisconsin.
  Sara Zoran, Grace Anbouba, Qianqian Zhao, Anne Harris, Katie B Williams, Jessica Scott Schwoerer> ;Journal of Community Genetics. 2022 Aug 1
• 3 citations
  Analysis of maternal risk factors associated with congenital vertebral malformations.
  Jennifer Hesemann, Emily Lauer, Stephen Ziska, Kenneth J. Noonan, Blaise A. Nemeth, Jessica A. Scott-Schwoerer, Catherine A. McCarty, Kristen Rasmussen, Jacob Goldberg...> ;Spine. 2013 Mar 1
• 12 citations
  Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations.
  Patrice K Held, Emily Singh, Jessica Scott Schwoerer> ;International Journal of Neonatal Screening. 2022 Feb 7
• 2 citations
  Rapid Transition to Telemedicine During the COVID-19 Pandemic: Medical Genetics Experience
  Sara Zoran, Christie M. Turcott, Amy Whitehead, Lynn Hrabik, Anne Bradford Harris, Jessica Scott Schwoerer> ;WMJ. 2021 Oct 1
• 6 citations
  No association between SCN9A and monogenic human epilepsy disorders.
  James Fasham, Joseph S Leslie, Jamie W. Harrison, James Deline, Katie B Williams, Ashley Kuhl, Jessica Scott Schwoerer, Harold E. Cross, Andrew H. Crosby, Emma L. Baple> ;Plos Genetics. 2020 Nov 20
• 8 citations
  A Survey of Eating Attitudes and Behaviors in Adolescents and Adults With Phenylalanine Hydroxylase Deficiency
  Sharon Luu, Therese Breunig, Nicoletta Drilias, Ashley Kuhl, Jessica Scott Schwoerer, Paula Cody> ;WMJ. 2020 Mar 1
• 3 citations
  Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017.
  Patrice K. Held, Gregory M. Rice, Ashley Kuhl, Nicoletta Drilias, Mei W. Baker, James Deline, Gretchen Spicer, Claire Sandrock, Christine M. Seroogy, Jessica Scott Sch...> ;Public Health Reports. 2019 Nov 4
• 1 citations
  Neonatal Metabolic Crises: A Practical Approach.
  Katie B. Williams, Patrice K. Held, Jessica Scott Schwoerer> ;Clinics in Perinatology. 2020 Mar 1
• 28 citations
  Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.
  Allison Tam, Noura S. AlDhaheri, Krupa Mysore, Mary Elizabeth M. Tessier, John A. Goss, Luis A. Fernandez, Anthony M. D'Alessandro, Jessica Scott Schwoerer, Gregory M....> ;American Journal of Medical Genetics. Part A. 2019 Jun 1
• 9 citations
  Erratum: De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental...
  Sara Reynhout, Sandra Jansen, Dorien Haesen, Siska Van Belle, Sonja A. de Munnik, Ernie M.H.F. Bongers, Jolanda H. Schieving, Carlo Marcelis, Jeanne Amiel, Marlène Rio...> ;American Journal of Human Genetics. 2019 Feb 7
• De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A (PPP2CA) Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
  Reynhout, S.,Jansen, S.,Haesen, D.,van Belle, S.,de Munnik, S. A.,Bongers, EMHF.,Schieving, J. H.,Marcelis, C.,Amiel, J.,Rio, M.,Mclaughlin, H.,Ladda, R.,Sell, S.,Krie...> ;Am. J. Hum. Genet.. 2019 Jan 01
• 5 citations
  Pegylated asparaginase as cause of fatal hyperammonemia in patients with latent urea cycle disorder
  Megan E. Peters, Janine Zee-Cheng, Ashley Kuhl, Jennifer Orozco, Everett Lally, Jessica Scott Schwoerer> ;Pediatric Blood & Cancer. 2018 Sep 1
• 14 citations
  Long-term outcomes in Amish patients diagnosed with propionic acidemia
  Jessica Scott Schwoerer, Sarah Clowes Candadai, Patrice K. Held> ;Molecular Genetics and Metabolism Reports. 2018 Jun 22
• 1 citations
  Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish.
  Jessica Scott Schwoerer, Nicoletta Drilias, Ashley Kuhl, Sean T. Mochal, Mei W. Baker> ;Molecular Genetics and Metabolism Reports. 2018 Mar 8
• 6 citations
  Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population.
  Ashley Kuhl, Sandra C. Van Calcar, Mei W. Baker, Christine M. Seroogy, Gregory M. Rice, Jessica Scott Schwoerer> ;Genetics in Medicine. 2017 Mar 1
• 12 citations
  Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Dif...
  Nicholas M. McCrory, Mathew J. Edick, Ayesha Ahmad, Susan Lipinski, Jessica Scott Schwoerer, Shaohui Zhai, Kaitlin Justice, Cynthia A. Cameron, Susan A. Berry, Loren D...> ;The Journal of Pediatrics. 2017 Jan 1
• 60 citations
  Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness
  Aman George, Dina J. Zand, Robert B. Hufnagel, Ruchi Sharma, Yuri V. Sergeev, Janet M. Legare, Gregory M. Rice, Jessica Scott Schwoerer, Mariana Rius, Laura H. Tetri, ...> ;American Journal of Human Genetics. 2016 Dec 1
• 9 citations
  Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community.
  Jessica Scott Schwoerer, Sandra C. Van Calcar, Gregory M. Rice, James Deline> ;Molecular Genetics and Metabolism Reports. 2016 Sep 1
• 12 citations
  221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
  Kristi Bentler, Shaohui Zhai, Sara A. Elsbecker, Georgianne L. Arnold, Barbara K. Burton, Jerry Vockley, Cynthia A. Cameron, Sally J. Hiner, Mathew J. Edick, Susan A. ...> ;Molecular Genetics and Metabolism. 2016 Sep 1
• 6 citations
  Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency
  Jessica Scott Schwoerer, Gena Cooper, Sandra C. Van Calcar> ;Molecular Genetics and Metabolism Reports. 2015 Jun 1
• 35 citations
  Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.
  Saadet Mercimek-Mahmutoglu, Joseph Ndika, Warsha A. Kanhai, Thierry Billette de Villemeur, David Cheillan, Ernst Christensen, Nathalie Dorison, Vickie L. Hannig, Yvonn...> ;Human Mutation. 2014 Apr 1
• 21 citations
  MECP2 duplication: possible cause of severe phenotype in females.
  Jessica Scott Schwoerer, Jennifer Laffin, Joanne M. Haun, Gordana Raca, Michael J. Friez, Philip F. Giampietro> ;American Journal of Medical Genetics. Part A. 2014 Apr 1
• 4 citations
  Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome
  Jessica Scott Schwoerer, Lisa Obernolte, Sandra C. Van Calcar, Susan Heighway, Heather Bankowski, Phillip Williams, Gregory M. Rice> ;JIMD Reports. 2012 Jan 1
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