Benjamin Cocanougher, MD, PhD

Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis. 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 Reports. 2026; 67(1):e70061.

PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia. Koch, RL; Fares, AH; Cocanougher, BT; Lim, J; Haijer-Schreuder, AB; Derks, TGJ; Grünert, SC; Sharma, R; Jones, KA; Kishnani, PS. npj Genomic Medicine. 2025; 10(1):71.

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T. Foley, AR; Bolduc, V; Guirguis, F; Donkervoort, S; Hu, Y; Orbach, R; Mccarty, RM; Sarathy, A; Norato, G; Cummings, BB; Wagener, R; Bertini, E; Muntoni, F; Bönnemann, CG. Brain. 2025; 148(9):3215-3227.

Statistical signature of subtle behavioral changes in large-scale assays. Blanc, A; Laurent, F; Barbier-Chebbah, A; Van Assel, H; Cocanougher, BT; Jones, BMW; Hague, P; Zlatic, M; Chikhi, R; Vestergaard, CL; Jovanic, T; Masson, J-B; Barré, C. PLoS Computational Biology. 2025; 21(4):e1012990.

Expanding therapeutic options for Pompe disease: a new small molecule inhibitor of glycogen synthase 1 (GYS1) shows preclinical promise in Pompe disease. Koch, RL; Cocanougher, BT; Lim, J-A; Raben, N; Kishnani, PS. ANNALS OF TRANSLATIONAL MEDICINE. 2024; 12(6):123.

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. Layo-Carris, DE; Lubin, EE; Sangree, AK; Clark, KJ; Durham, EL; Gonzalez, EM; Smith, S; Angireddy, R; Wang, XM; Weiss, E; Muss, C; Carere, DA; Bhoj, EJK; Bryant, LM. European Journal of Human Genetics. 2024; 32(8):928-937.

The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt. Cocanougher, BT; Liu, SW; Francescatto, L; Behura, A; Anneling, M; Jackson, DG; Deak, KL; Hornik, CD; Elmallah, MK; Pizoli, CE; Smith, EC; Tan, KGQ; Mcdonald, MT. HGG Advances. 2024; 5(3):100288.

LarvaTagger: manual and automatic tagging of Drosophila larval behaviour. Laurent, F; Blanc, A; May, L; Gándara, L; Cocanougher, BT; Jones, BMW; Hague, P; Barré, C; Vestergaard, CL; Crocker, J; Zlatic, M; Jovanic, T; Masson, J-B. Bioinformatics. 2024; 40(7).

Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration. Khazaei, S; Chen, CCL; Andrade, AF; Kabir, N; Azarafshar, P; Morcos, SM; França, JA; Lopes, M; Lund, PJ; Danieau, G; Campos, EI; Kleinman, CL; Garzia, L; Jabado, N. Cell. 2023; 186(6):1162-1178.e20.

Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline. Beaman, M; Fisher, K; Mcdonald, M; Tan, QKG; Jackson, D; Cocanougher, BT; Landstrom, AP; Hobbs, CA; Cotten, M; Cohen, JL. Journal of Personalized Medicine. 2022; 12(11).