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Nablus syndrome: Easy to diagnose yet difficult to solve.
Allanson J, Smith A, Forzano F, Lin AE, Raas-Rothschild A, Howley HE, Boycott KM. Allanson J, et al. Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):447-457. doi: 10.1002/ajmg.c.31660. Am J Med Genet C Semin Med Genet. 2018. PMID: 30580486 Review.
FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.
Cuillerier A, Del Gobbo GF, Mackay L, Wall E, Couse M, McDonell LM, Cloutier M, Danzi MC, Warman-Chardon J, Bourque PR, Suchowersky O, Mears A, Seldenthuis L, Mears W, Larrigan L, White-Brown A, Pfeffer G, Bulman DE, Dyment D; Care4Rare Canada Consortium; Boycott KM. Cuillerier A, et al. Ann Clin Transl Neurol. 2025 Jun;12(6):1118-1125. doi: 10.1002/acn3.70016. Epub 2025 Apr 7. Ann Clin Transl Neurol. 2025. PMID: 40191983 Free PMC article.
Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.
Cuillerier A, Goodman A, Lawrence C, Villeneuve-Cloutier N, Armour CM, Bhola PT, Bourque DK, Carter MT, Lazier J, Sawyer SL, Saleh M, Prasad C, Siu VM; Care4Rare Canada Consortium; Boycott KM, Hartley T, Dyment DA, Balci TB. Cuillerier A, et al. Clin Genet. 2025 Jun 22. doi: 10.1111/cge.70008. Online ahead of print. Clin Genet. 2025. PMID: 40545823
14 results