Publications by authors named "Helene Tubeuf"

13Publications

Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements.

Hum Mutat 2020 Aug 2. Epub 2020 Aug 2.

Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.

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http://dx.doi.org/10.1002/humu.24091DOI Listing
August 2020

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.

J Alzheimers Dis 2018 ;62(2):821-831

Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.

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http://dx.doi.org/10.3233/JAD-170981DOI Listing
February 2019

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.

Fam Cancer 2018 01;17(1):141-153

Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1007/s10689-017-0011-0DOI Listing
January 2018