Selected Publications

Simsek O, Manteghinejad A, Wannasarnmetha M, Kotha A, Teixeira SR, Zarnow D, Schwartz ES, Whitehead MT.: Subarachnoid Space Measurements in the Second Trimester Using MR Imaging. AJNR. American journal of neuroradiology 46(10): 2168-2175, Sep 2025 Notes: DOI: 10.3174/ajnr.A8773.

Dominguez Gonzalez CA, Bell KM, Rajagopalan R, de Silva MG, Lemes A, Zabala C, Perez-Vidarte F, Cerisola A, Vossough A, Whitehead MT, Cunningham C, Brown NJ, Quin R, Simons C, Conway T, Uebergang E, Rius R, Kumaheri MA, Kotes ER, Vohra A, Zalusky MPG, Anderson ZB, Storz SHR, Ward SA, Goffena J, Gustafson JA, White SM, Vanderver A, Miller DE.: Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot. Neurology. Genetics 11(5): e200291, Sep 2025.

DiSanza BL, Porcari GS, Finoti LS, Ramos-Rodriguez L, Burris DM, McDonough JA, Ning G, Fagan G, Helman GT, Weiss E, Taft RJ, Pizzino A, Whitehead MT, Waldman A, Simons C, Ortiz-Gonzalez X, Skarnes WC, Vanderver A, Bhoj EJ, Ahrens-Nicklas RC.: Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder. HGG advances 7(1): 100525, Sep 2025 Notes: DOI: 10.1016/j.xhgg.2025.100525.

Coppola F, Prasad S, Morana G, Whitehead MT, Zakzouk R, Manteghinejad A, Langer FW, Perez JA, D'Arco F, Löbel U, Gaur P, Varga P, Baruteau J, Mankad K, Sudhakar S, Biswas A.: Neuroimaging spectrum of GM1 gangliosidosis with description of novel imaging signs. AJNR. American journal of neuroradiology Aug 2025 Notes: DOI: 10.3174/ajnr.A8973; Online ahead of print as of November 2025.

Wright R, Burrill N, Crane H, Khalek N, Gebb J, Bach AM, Whitehead MT, Zarnow D, Oliver E, Agarwal S, Moldenhauer JS.: Case Series of Prenatally Diagnosed Cri du Chat Syndrome With Associated Magnetic Resonance Imaging Findings. Pediatric neurology 169: 93-97, Aug 2025.

Whitehead MT, Manteghinejad A, Alves CAPF, Simsek O, Khalek N, Schwartz ES: Frontal Paraventricular Cysts: Refined Definitions and Outcomes. AJNR. American journal of neuroradiology 46(8): 1709-1715, Aug 2025 Notes: DOI: 10.3174/ajnr.A8653.

Kukulka NA, Singh S, Whitehead MT, Dobyns WB, Chang T, Kousa YA.: Pontocerebellar hypoplasia: a review from 1912 to 2022. Brain communications 7(5): fcaf298, Aug 2025 Notes: DOI: 10.1093/braincomms/fcaf298; eCollection 2025.

Martinez-Correa S, Rafful PP, Ramirez-Suarez KI, Viaene AN, Beslow LA, Agarwal S, Whitehead MT, Vossough A, Teixeira SR.: Imaging Patterns of Neonatal Subpial Hemorrhage: Provisional Statements on Neurologic Outcomes. AJNR. American journal of neuroradiology 46(8): 1702-1708, Aug 2025 Notes: DOI: 10.3174/ajnr.A8702.

De Pace R, Gonzalez CD, Williamson CD, Helman G, Sanderson LE, Disanza B, Hsiao-Sánchez N, Pizzino A, Muirhead K, Bonkowsky JL, Taft RJ, Sannaa NA, Dias P, Quintas AS, Mutlu MB, Bas H, Oztürk H, Mojarrad M, Alerasool M, Sheikhani S, Jabbar HK, Issa AH, Houlden H, Zonic E, Barakat TS, Tripolski K, Romito A, Teferedegn E, Vossough A, Whitehead MT, Bhoj E, Ahrens-Nicklas RC, Simons C, Wolvetang E, van Ham TJ, Bertoli-Avella AM, Maroofian R, Bonifacino JS, Vanderver A.: BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy. medRxiv: the preprint server for health sciences Jul 2025 Notes: DOI: 10.1101/2025.07.17.25331211.

Russ JB, Agarwal S, Venkatesan C, Scelsa B, Vollmer B, Tarui T, Pardo AC, Lemmon ME, Mulkey SB, Hart AR, Nagaraj UD, Kuller JA, Whitehead MT, Cohen JL, Gebb JS, Glenn OA, Norton ME, Gano D.: Fetal malformations of cortical development: review and clinical guidance. Brain: a journal of neurology 148(6): 1888-1903, Jun 2025 Notes: DOI: 10.1093/brain/awaf094.