Jessica A. Scott-Schwoerer
Pediatrics | Endocrinology | Medical Genetics
9000 W Wisconsin Ave
Milwaukee, WI 53226
Milwaukee, WI 53226
Last Updated: 09/26/2026
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Found 18 publications
A Review of Newborn Screening for VLCADD: The Wisconsin Experience.
Journal: International journal of neonatal screening
Published: January 25, 2025
Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series.
Journal: American journal of medical genetics. Part A
Published: August 11, 2024
Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations.
Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations.
Journal: International journal of neonatal screening
Published: December 06, 2021
Rapid Transition to Telemedicine During the COVID-19 Pandemic: Medical Genetics Experience.
Journal: WMJ : official publication of the State Medical Society of Wisconsin
Published: October 28, 2021
No association between SCN9A and monogenic human epilepsy disorders.
Journal: PLoS genetics
Published: July 10, 2020
A Survey of Eating Attitudes and Behaviors in Adolescents and Adults With Phenylalanine Hydroxylase Deficiency.
Journal: WMJ : official publication of the State Medical Society of Wisconsin
Published: April 30, 2020
Neonatal Metabolic Crises: A Practical Approach.
Journal: Clinics in perinatology
Published: February 01, 2020
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Journal: American journal of human genetics
Published: June 06, 2018
Long-term outcomes in Amish patients diagnosed with propionic acidemia.
Journal: Molecular genetics and metabolism reports
Published: March 09, 2018
Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community.
Journal: Molecular genetics and metabolism reports
Published: May 12, 2016
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
Journal: American journal of human genetics
Published: May 12, 2016
Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.
Journal: The Journal of pediatrics
Published: May 10, 2016
Last Updated: 09/26/2026