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Items: 6

1.

Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions.

Demopoulos C, Kothare H, Mizuiri D, Henderson-Sabes J, Fregeau B, Tjernagel J, Houde JF, Sherr EH, Nagarajan SS.

Sci Rep. 2018 Jan 19;8(1):1274. doi: 10.1038/s41598-018-19751-x.

2.

Genotype-phenotype correlations in individuals with pathogenic RERE variants.

Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, Boddaert N, Cantagrel V, Lewis AM, Scaglia F; Undiagnosed Diseases Network, Kohler JN, Bernstein JA, Dries AM, Rosenfeld JA, DeFilippo C, Thorson W, Yang Y, Sherr EH, Bi W, Scott DA.

Hum Mutat. 2018 May;39(5):666-675. doi: 10.1002/humu.23400. Epub 2018 Jan 25.

3.

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

Fregeau B, Kim BJ, Hernández-García A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Barañano K, Bosch DGM, de Vries BBA, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KLI, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH.

Am J Hum Genet. 2016 May 5;98(5):963-970. doi: 10.1016/j.ajhg.2016.03.002. Epub 2016 Apr 14.

4.

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.

Ann Clin Transl Neurol. 2015 Jun;2(6):623-35. doi: 10.1002/acn3.198. Epub 2015 May 1.

5.

Management of atrial fibrillation by Canadian electrophysiologists after early termination of the PALLAS study.

Mohajer K, Fregeau B, Garg V, Skanes A, Simpson CS, Redfearn DP, Michael KA, Baranchuk A.

Can J Cardiol. 2013 Jan;29(1):131.e1-2. doi: 10.1016/j.cjca.2012.07.848. Epub 2012 Sep 28. No abstract available.

PMID:
23026474
6.

Reactivity of halo(pyridinium)carbenes.

Moya-Barrios R, Fregeau BM, Cozens FL.

J Org Chem. 2009 Dec 4;74(23):9126-31. doi: 10.1021/jo901958g.

PMID:
19904904

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