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Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.
do Rosario MC, Bey GR, Nmezi B, Liu F, Oranburg T, Cohen ASA, Coffman KA, Brown MR, Kiselyov K, Waisfisz Q, Flohil MT, Siddiqui S, Rosenfeld JA, Iglesias A, Girisha KM, Wolf NI, Padiath QS, Shukla A. do Rosario MC, et al. Among authors: cohen asa. Brain. 2022 Aug 12:awac295. doi: 10.1093/brain/awac295. Online ahead of print. Brain. 2022. PMID: 35953447
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.
Lansdon LA, Cadieux-Dion M, Herriges JC, Johnston J, Yoo B, Alaimo JT, Thiffault I, Miller N, Cohen ASA, Repnikova EA, Zhang L, Farooqi MS, Farrow EG, Saunders CJ. Lansdon LA, et al. Among authors: cohen asa. Clin Chem. 2022 Jul 23:hvac113. doi: 10.1093/clinchem/hvac113. Online ahead of print. Clin Chem. 2022. PMID: 35869940
736 results