Research

We partner with healthcare providers, universities, and research teams to support Plain communities through culturally respectful, community-focused research. These collaborations help advance the discovery of new genetic variants, improve diagnostic tools, strengthen early-intervention strategies, enhance carrier-screening programs, and guide the development of new treatment approaches. By studying the conditions identified within the families we serve, we address unique health needs while contributing meaningfully to the broader field of genetics.

 

Our overarching research goal is to help healthcare providers deepen their understanding of how genetic disorders affect the body, identify effective treatments or symptom-management strategies, and ultimately support efforts to develop potential cures. Through this work, we aim to improve the quality of life for our patients, their families, and communities around the world.

Publications

Ebby CG, Rasberry MD, Williams KB, Chen LP. Two for One: Recurrent Symptoms, Delayed Diagnosis. Clin Pediatr. 2026 Mar 16. PMID: 41840898
Curry GE, Bertsch NL, Quach T, Anderson R, Matiwala N, Brigatti KW, Wilhelm SJ, Williams KB, Lowe ME, Ammous Z, Xiao XK. Characterization of a PNLIP variant identified in Amish pediatric patients with congenital pancreatic lipase deficiency. J Lipid Res. 2025 Sep;66(9):100878. PMID: 40840699
Eichten C, Kuhl A, Baker M, Kwon JM, Seroogy CM, Williams KB. Development and assessment of educational materials for spinal muscular atrophy carrier screening in the Plain community. J Genet Couns. 2024 Jan 10. PMID: 38197741
Williams KB, Lasarev MR, Baker M, Seroogy CM. Cross-sectional survey on genetic testing utilization and perceptions in Wisconsin Amish and Mennonite communities. J Community Genet. 2023 Feb;14(1):41-49. PMID: 36385695
Zoran S, Anbouba G, Zhao Q, Harris A, Williams KB, Scott Schwoerer J. Telemedicine in the Amish and Mennonite communities of Wisconsin. J Community Genet. 2022 Aug;13(4):445-448. PMID: 35790687
Williams KB, Horst M, Young M, Pascua C, Puffenberger EG, Brigatti KW, Gonzaga-Jauregui C, Shuldiner AR, Gidding S, Strauss KA, Chowdhury D. Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B. BMC Cardiovasc Disord. 2022 Mar 17;22(1):109. PMID: 35300601
Lin S, Sanchez-Bretaño A, Leslie JS, Williams KB, Lee H, Thomas NS, Callaway J, Deline J, Ratnayaka JA, Baralle D, Schmitt MA, Norman CS, Hammond S, Harlalka GV, Ennis S, Cross HE, Wenger O, Crosby AH, Baple EL, Self JE. Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B). NPJ Genom Med. 2022 Jan 13;7(1):2. PMID: 35027574
Williams KB, Horst M, Hollinger EA, Freedman J, Demczko MM, Chowdhury D. Newborn Pulse Oximetry for Infants Born Out-of-Hospital. Pediatrics. 2021 Oct;148(4). PMID: 34531289
Zineb Ammous, Lettie E. Rawlins, Hannah Jones, Joseph S. Leslie, Olivia Wenger, Ethan Scott, Jim DeLine, Tom Herr, Rebecca Evans, Angela Scheid, Joanna Kennedy, Barry A. Chioza, Ryan M. Ames, Harold E. Cross, Erik G. Puffenberger, Lorna Harries, Emma L. Baple, Andrew H. Crosby. A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder. PLoS Genet 17(9): e1009803. https://doi.org/10.1371/journal.pgen.1009803, 2021 September 27. PMID: 34570759
Fasham J, Leslie JS, Harrison JW, Deline J, Williams KB, Kuhl A, Scott Schwoerer J, Cross HE, Crosby AH, Baple EL. No association between SCN9A and monogenic human epilepsy disorders. PLoS Genet. 2020 Nov 20;16(11). PMID: 33216760
Strauss KA, Williams KB, Carson VJ, Poskitt L, Bowser LE, Young M, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Hailey J, Chopko S, Puffenberger EG, Brigatti KW, Miller F, Morton DH. Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades. Mol Genet Metab. 2020 Nov;131(3):325-340. PMID: 33069577
Amy L. Peterson, MD, James DeLine, MD, Claudia E. Korcarz, DVM, Ann M. Dodge, RN, MSN, CPNP, James H. Stein, MD. Phenotypic Variability in Atherosclerosis Burden in an Old-Order Amish Family With Homozygous Sitosterolemia. JACC: Case Reports, V2, I4, 2020 April: 646-650. PMID: 34317312
Scala M, Mojarrad M, Riazuddin S, Brigatti KW, Ammous Z, Cohen JS, Hosny H, Usmani MA, Shahzad M, Riazuddin S, Stanley V, Eslahi A, Person RE, Elbendary HM, Comi AM, Poskitt L, Salpietro V, Genomics QS, Rosenfeld JA, Williams KB, Marafi D, Xia F, Biderman Waberski M, Zaki MS, Gleeson J, Puffenberger E, Houlden H, Maroofian R. RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability. Brain. 2020 Apr 1;143(4). PMID: 32227164
Williams KB, Held PK, Scott Schwoerer J. Neonatal Metabolic Crises: A Practical Approach. Clinics in Perinatology. 2020 Mar;47(1):155-170. PMID: 32000923
Strauss KA, Carson VJ, Soltys K, Young ME, Bowser LE, Puffenberger EG, Brigatti KW, Williams KB, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Chopko S, Hailey J, Muelly ER, Shellmer DA, Radcliff Z, Rodrigues A, Loeven K, Heaps AD, Mazariegos GV, Morton DH. Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes. Molecular Genetics and Metabolism. 2020 Mar;129(3):193-206. PMID: 31980395
Patrice K. Held, PhD; Gregory M. Rice, MD; Ashley Kuhl, CGC; Nicoletta Drilias, RD; Mei Baker MD; James DeLine, MD; Gretchen Spicer, BS; Claire Sandrock, BS; Christine M. Seroogy, MD; and Jessica Scott Schwoerer, MD. Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017. Public Health Reports. 2019 Nov/Dec;134(2_suppl):58S-63S. PMID: 31682555
Bowser LE, Young M, Wenger OK, Ammous Z, Brigatti KW, Carson VJ, Moser T, DeLine J, Aoki K, Morlet T, Scott EM, Puffenberger EG, Robinson DL, Hendrickson C, Salvin J, Gottlieb S, Heaps AD, Tiemeyer M, Strauss KA. Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier. Mol Genet Metab. 2019 Apr;126(4):475-488. PMID: 30691927
Williams KB, Brigatti KW, Puffenberger EG, Gonzaga-Jauregui C, Griffin LB, Martinez ED, Wenger OK, Yoder M, Kandula V, Fox MD, Demczko MM, Poskitt L, Furuya KN, Reid JG, Overton JD, Baras A, Miles L, Radhakrishnan K, Carson VJ, Antonellis A, Jinks RN, Strauss KA. Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease. Human Molecular Genetics. 2019 Feb;28(4):525-538. PMID: 30304524
Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR, Puffenberger EG. Genomic diagnostics within a medically underserved population: efficacy and implications. Genetics in Medicine. 2018 Jan;20(1):31-41. PMID: 28726809
Tantoco JC, Elliott Bontrager J, Zhao Q, DeLine J, Seroogy CM. The Amish have decreased asthma and allergic diseases compared with old order Mennonites. Ann Allergy Asthma Immunol. 2018 Aug;121(2):252-253. PMID: 29802980
Williams KB, Wargowski D, Eikhoff J, Wald E. Disparities in health supervision for children with Down syndrome. Clinical Pediatrics. 2017 Dec;56(14):1319-1327. PMID: 28135877
Chowdhury D, Williams KB, Chidekel A, Pizarro C, Young M, Preedy K, Hendrickson C, Robinson D, Kreiger PA, Puffenberger E, Strauss KA. Management of congenital heart disease associated with Ellis-van Creveld short-rib thoracic dysplasia. Journal of Pediatrics. 2017 Dec;191:145-151. PMID: 29173298
Scott Schwoerer J, van Calcar S, Rice GM, DeLine J. Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community. Mol Genet Metab Rep. 2016 Jun 2;8:4-7. PMID: 28649556
Sieren S, Grow M, GoodSmith M, Spicer G, DeLine J, Zhao Q, Lindstrom MJ, Harris AB, Rohan AM, Seroogy CM. Cross-Sectional Survey on Newborn Screening in Wisconsin Amish and Mennonite Communities. J Community Health. 2016 Apr;41(2):282-8. PMID: 26433724

Poster Presentations

Jessica Scott Schwoerer, Sara Zoran, Grace Anbouba, Katie B. Williams, Sheri Hammond, Anne Bradford Harris. Exploring Telemedicine for Genetics Service Delivery in a Wisconsin Plain Community.
American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting 13-16 April 2021
Williams KB, Strauss KA. Lysine-Free, arginine-enriched medical foods for the management of glutaric aciduria type 1.
Genetic Metabolic Dieticians International Conference. Orlando, FL. April 26-28, 2018
Chowdhury D, Williams K. Newborn wellness screen: Modified newborn pulse oximetry screening for out-of-hospital births.
Seventh World Congress of Pediatric Cardiology and Cardiac Surgery. Barcelona, Spain. July 18, 2017
Chowdhury D, Pascua C, Young M, Horst M, McCulloch MA, Gidding S, Puffenberger E, Strauss K, Williams K. Lipid levels and vascular function in young individuals heterozygous or homozygous for an ApoB c.1058G>A variant.
American College of Cardiology Annual Meeting. Washington, DC. March 17, 2017
Chowdhury D, Williams K. Modified newborn pulse oximetry screening for out-of-hospital births.
American College of Cardiology Annual Meeting. Washington, DC. March 18, 2017
Williams KB, Eickhoff J, Wald ER, Wargowski DS. Disparities in health supervision for children with Down syndrome.
Pediatric Academic Society Annual Meeting. Washington DC. May 4-7, 2013