The Trusted Senior: How Attendings and Residents Can Co-Create Success.
February 1, 2026
Crenshaw MM, Alfred J, Yang C, Anderson LR. Clin Teach. 2026 Feb;23(1):e70335. doi: 10.1111/tct.70335. PMID: 41420284.
Category: GENE Publications
Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition-Related Hyperammonemia.
January 18, 2026
Crenshaw MM, D'Annibale OM, Martucci V, Gracie S, Kochhar A, Stansauk J, Larson A, Baker P 2nd, Peck C, Wood T, El-Gharbawy A, McCandless S, LoPiccolo MK. JIMD Rep. 2026 Jan 18; 67(1):e70058. doi: 10.1002/jmd2.70058. PMID: 41561891; PMCID: PMC12813414.
Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis.
January 11, 2026
Crenshaw MM, Midgette Y, Mohan S, Wei R, Anneling M, Williams M, Patel M, Cocanougher BT, Young SP, Niyazov D, El-Gharbawy A, Stiles AR. JIMD Rep. 2026 Jan 11;67(1):e70061. doi: 10.1002/jmd2.70061. PMID: 41531943; PMCID: PMC12790947.
Systemic Disease Progression and Neurodegeneration in the Gbe1ys/ys Mouse Model of Glycogen Storage Disease IV.
December 15, 2025
Choi SJ, Koch RL, Gibson RA, Weaver FE, Adhikari Y, Eisner W, Mehta A, Jeck WR, Lim JA, Kishnani PS. Am J Pathol. 2025 Dec 15:S0002-9440(25)00437-7. doi: 10.1016/j.ajpath.2025.11.006. Online ahead of print. PMID: 41407198.
Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2.
November 12, 2025
Gibson RA, Jeck WR, Koch RL, Jumani N, Choi SJ, Bali D, Young SP, Asokan A, Lim JA, Kishnani PS. Sci Adv. 2025 Nov 14;11(46):eady6760. doi: 10.1126/sciadv.ady6760. Epub 2025 Nov 12. PMID: 41223291.
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.
November 1, 2025
Cope HL, Jalazo ER, Berg JS, Sullivan JA, Kucera KS, Shone SM, Frawley HE, Gwaltney AY, Forsythe AN, Migliore BA, Wright B, Moultrie RR, Milko LV, Zimmerman RS, Kruszka P, Suchy SF, Begtrup A, Langley KG, Monaghan KG, Kraczkowski C, Guenzel AJ, McWalter K, Hruska KS, Bailey DB Jr, Wheeler...
Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase Inhibitor.
October 12, 2025
Jalazo ER, Weisenfeld LA, Ligezka A, Perfetti R, Muenzer J. JIMD Rep. 2025 Oct 12;66(6):e70043. doi: 10.1002/jmd2.70043.PMCID: PMC12516010. PMID: 41089670.
TYMS-ENOSF1 Dyskeratosis Congenita in a Patient With Ring Chromosome 18: A Case Report.
August 1, 2025
Shams RB, Nieman EL, Perilla-Young Y, Morrell DS, Hildebrandt C. Am J Med Genet A. 2025 Aug;197(8):e64081. doi: 10.1002/ajmg.a.64081. Epub 2025 Apr 10. PMID: 40207375.
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.
July 3, 2025
Hildebrandt C, Genetti CA, Logvinenko T, Win W, Barraza-Flores P, Hayes LH, Rockowitz S, Lehtokari VL, Iannaccone ST, Darras BT, Topaloglu H, Wallgren-Pettersson C, Beggs AH. Neurol Genet. 2025 Jul 3;11(4):e200277. doi: 10.1212/NXG.0000000000200277.PMCID: PMC12258819. PMID: 40661861.
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
May 1, 2025
Tshering KC, DiStefano MT, Oza AM, Ajuyah P, Webb R, Edoh E, Broeren E, Ratliff J, Gitau V, Paris K, Aburyyan A, Alexander J, Albano V, Bai D, Booth KTA, Buonfiglio PI, Charfeddine C, Dalamón V, Castillo ID, Moreno-Pelayo MA, Duzkale H, Dorshorst B, Faridi R, Kenna M, Lewis MA,...