Publications by authors named "Jessica Scott Schwoerer"

18Publications

No association between SCN9A and monogenic human epilepsy disorders.

PLoS Genet 2020 Nov 20;16(11):e1009161. Epub 2020 Nov 20.

RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1009161DOI Listing
November 2020

A Survey of Eating Attitudes and Behaviors in Adolescents and Adults With Phenylalanine Hydroxylase Deficiency.

WMJ 2020 Mar;119(1):37-43

Division of General Pediatrics and Adolescent Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.

View Article

Download full-text PDF

Source
March 2020

Neonatal Metabolic Crises: A Practical Approach.

Clin Perinatol 2020 03 17;47(1):155-170. Epub 2019 Oct 17.

Department of Pediatrics, Division of Genetics and Metabolism, University of Wisconsin Hospital and Clinics, 1500 Highland Avenue, Madison, WI 53705, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clp.2019.10.003DOI Listing
March 2020

Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.

Am J Med Genet A 2019 06 12;179(6):1015-1019. Epub 2019 Mar 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61104DOI Listing
June 2019

Long-term outcomes in Amish patients diagnosed with propionic acidemia.

Mol Genet Metab Rep 2018 Sep 22;16:36-38. Epub 2018 Jun 22.

Department of Pediatrics, University of Wisconsin School of Medicine, Madison, WI 53705, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2018.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019757PMC
September 2018

Pegylated asparaginase as cause of fatal hyperammonemia in patients with latent urea cycle disorder.

Pediatr Blood Cancer 2018 09 18;65(9):e27239. Epub 2018 May 18.

Department of Pediatrics-Critical Care Medicine, University of Wisconsin, Madison, Wisconsin.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pbc.27239DOI Listing
September 2018

Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish.

Mol Genet Metab Rep 2018 Jun 8;15:75-77. Epub 2018 Mar 8.

University of Wisconsin Department of Pediatrics, Waisman Center Madison, WI, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2018.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857495PMC
June 2018

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.

Am J Hum Genet 2016 Dec 23;99(6):1388-1394. Epub 2016 Nov 23.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD 20892, USA; Children's National Medical Center, Washington, DC 20010, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297163048
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2016.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142105PMC
December 2016

Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population.

Genet Med 2017 03 11;19(3):352-356. Epub 2016 Aug 11.

Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2016.104DOI Listing
March 2017

Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.

Mol Genet Metab Rep 2015 Jun 30;3:39-41. Epub 2015 Mar 30.

Department of Molecular and Medical Genetics, School of Medicine and Public Health, Oregon Health and Science University, Portland, OR, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2015.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750558PMC
June 2015

MECP2 duplication: possible cause of severe phenotype in females.

Am J Med Genet A 2014 Apr 23;164A(4):1029-34. Epub 2014 Jan 23.

Department of Pediatrics, University of Wisconsin, Madison, Wisconsin.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36380DOI Listing
April 2014

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

Hum Mutat 2014 Apr 6;35(4):462-9. Epub 2014 Mar 6.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada; Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22511DOI Listing
April 2014