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Page 1
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
Esmaeeli Nieh S, Madou MR, Sirajuddin M, Fregeau B, McKnight D, Lexa K, Strober J, Spaeth C, Hallinan BE, Smaoui N, Pappas JG, Burrow TA, McDonald MT, Latibashvili M, Leshinsky-Silver E, Lev D, Blumkin L, Vale RD, Barkovich AJ, Sherr EH. Esmaeeli Nieh S, et al. Among authors: hallinan be. Ann Clin Transl Neurol. 2015 Jun;2(6):623-35. doi: 10.1002/acn3.198. Epub 2015 May 1. Ann Clin Transl Neurol. 2015. PMID: 26125038 Free PMC article.
CNTNAP1-Related Congenital Hypomyelinating Neuropathy.
Lesmana H, Vawter Lee M, Hosseini SA, Burrow TA, Hallinan B, Bove K, Schapiro M, Hopkin RJ. Lesmana H, et al. Pediatr Neurol. 2019 Apr;93:43-49. doi: 10.1016/j.pediatrneurol.2018.12.014. Epub 2018 Dec 28. Pediatr Neurol. 2019. PMID: 30686628 Review.
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB; DDD Study; Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S; Undiagnosed Diseases Network; Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R; ATP6V1A collaborators; Masuelli L, Conti V, Novarino G, Fassio A. Guerrini R, et al. Brain. 2022 Aug 27;145(8):2687-2703. doi: 10.1093/brain/awac145. Brain. 2022. PMID: 35675510 Free PMC article.
When should clinicians order genetic testing for Dravet syndrome?
Fountain-Capal JK, Holland KD, Gilbert DL, Hallinan BE. Fountain-Capal JK, et al. Among authors: hallinan be. Pediatr Neurol. 2011 Nov;45(5):319-23. doi: 10.1016/j.pediatrneurol.2011.08.001. Pediatr Neurol. 2011. PMID: 22000312 Free PMC article.
Long-read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities.
Sund KL, Liu J, Lee J, Garbe J, Abdelhamed Z, Maag C, Hallinan B, Wu SW, Sperry E, Deshpande A, Stottmann R, Smolarek TA, Dyer LM, Hestand MS. Sund KL, et al. Am J Med Genet A. 2024 Dec;194(12):e63818. doi: 10.1002/ajmg.a.63818. Epub 2024 Jul 23. Am J Med Genet A. 2024. PMID: 39041659
27 results