Selected Publications

Love-Nichols J, Anderson K, Sommerland O, Wenger T, Kruidenier L, Dipple K, Doherty D, MacDuffie K, Keefe A, Sikes M, Buckingham KJ, Chong J, McWalter K, Johnson B, Yu JH, Bamshad M: SeqFirst-neo – Utilizing a disruptive approach to increase access to a precise genetic diagnosis in the NICU. Poster, National Society for Genetic Counselors. Seattle, WA. Presenting author: Jamie Love-Nichols. Nov 2025.

Wenger TL, Wild KT, Zaniletti I, Zackai EH, Lioy J, Resnick CM, Chaudhari BP, Rotters SA, Goldstein J, Ahmad I, Coghill CH, Gogcu S, Lai KC, Cielo C, Padula MA: Management and outcomes of neonates with Treacher Collins and Nager syndromes. Poster, Children’s Hospital Neonatal Consortium, Denver, CO Nov 2025.

Marvin CT, Chong JX, Devaney J, Buckingham JK, Noya J, Shively KM, Miller CV, Galey M, Stortz SH, Goffena J, Berlyoung AS, Shaffer T, Zakarian C, McGee SR, Lochovsky L, Sommerland OM, Anderson OM, Anderson K, Love-Nichols J, Robertson AV, Rowell WJ, Lake J, Carroll A, McWalter K, Johnson B, Wenger TL, Miller DE, University of Washington Center for Rare Disease Research, Wei CL, Bamshad MJ: Benchmarking long-read variant sensitivity across ONT and PacBio platforms using known clinically reported variants in a cohort of critically ill newborns. Poster, American Society for Human Genetics, Boston, MA. Presenting author: Colby Marvin. Oct 2025.

Wenger, TL, Adam, MP: Commentary: Interventional Genetics. American Journal of Medical Genetics Page: doi: 10.1093, Oct 2025 Notes: online and ahead of print.

Doherty D, Dipple K, Anderson K, Sommerland O, Wenger T, MacDuffie K, Keefe A, Sikes M, Scott A, Kruidenier L, Love-Nichols J, Gildersleeve D, Juusola J, Retterer K, McWalter K, Snook A, Johnson B, Kruszka P, Yu JH, Bamshad M: SeqFirst Ddi – Early whole genome sequencing improves access to early precise genetic diagnosis. Poster, Society for Developmental and Behavioral Pediatrics, San Diego, CA, Presenting author: Dan Doherty. Sep 2025.

McPheron M, Burns K, Wenger T: Treatment of PDGFRB-Related Penttinen Syndrome With Imatinib in a Young Child. Am J Med Genet C Semin Med Genet Sep 2025 Notes: doi: 10.1002/ajmg.c.32148. Online ahead of print.

Bamshad MJ, Devaney JM, Chong JX, Buckingham KJ, Shively KM, Marvin CT, Shaffer TS, Smith JD, Noya J, Berlyoung AS, Yususs S, Lynch S, Brandon R, Hruska KS, Lochovsky L, Stergachis AB, Wei CL, Kueffner R, Johnson B, Miller DE, Wenger TL, Kruszka P.: Head-to-head comparison of short- vs. long-read sequencing in newborns suspected of having a genetic condition in SeqFirst. Platform, David W. Smith Workshop on Malformations and Morphogenesis. Madison, WI. Presenting author: Michael Bamshad. Aug 2025.

Wenger TL, Wild KT, Zaniletti I, Zackai EH, Lioy J, Resnick CM, Chaudhari BP, Rottgers SA, Goldstein J, Vyas R, Ahmad I, Coghill CH 3rd, Gogcu S, Lai KC, Cielo CM, Padula MA; Children's Hospitals Neonatal Consortium Micrognathia Focus Group.: Management and Outcomes of Neonates with Treacher Collins and Nager Syndromes. J Pediatr 283: 114614, Aug 2025.

Dore R, Chang CT, Declève A, Brunori G, Ludlam WG, Huang A, Movahedinia M, Damseh NS, Anwar I, Vahidi Mehrjardi MY, Ny A, Khorrami M, Kheirollahi M, Frederiksen H, Eghbal F, Mirjalili MR, Dehghani M, Karimiani EG, Oreshkov S, Alves C, Striano P, Suri M, Martinez-Agosto J, Ansar M, Zahid M, Akram S, Ansar M, Nelson SF; Undiagnosed Diseases Network; Antonarakis SE, Houlden H, Copmans D, Martemyanov KA, Maroofian R.: ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy. Genet Med 27(9): 101506, Jun 2025.

Keefe AC, Scott AA, Kruidenier L, Conta J, Sternen D, Clowes Candadai S, Stasi SM, Parish-Morris J, Sikes M, Adam MP, Beck AE, Hayek JC, Glass I, Bennett JT, Mirzaa G, Kruszka P, McWalter K, Copenheaver D, Friedman B, Bamshad M, Dipple KM, Wenger TL.: Implementation of First-Line Rapid Genome Sequencing in Non-Critical Care Pediatric Wards. J Pediatr 286: 114699, Jun 2025.