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Periodical

Combining European and U.S. risk prediction models with polygenic risk scores to refine cardiovascular prevention: the CoLaus|PsyCoLaus Study

Authors : de La Harpe, Roxane; Thorball, Christian W; Redin, Claire

Source: European Journal of Preventive Cardiology; May 2023, Vol. 30 Issue: 7 p561-571, 11p

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Periodical

Host genomics of SARS-CoV-2 infection

Authors : Redin, Claire; Thorball, Christian W.; Fellay, Jacques

Source: European Journal of Human Genetics: EJHG; August 2022, Vol. 30 Issue: 8 p908-914, 7p

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Periodical

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

Authors : Schlüter, Agatha; Rodríguez-Palmero, Agustí; Verdura, Edgard

Source: Neurology (Ovid); March 2022, Vol. 98 Issue: 9 pe912-e923, 12p

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Periodical

Disease-causing variants in TCF4are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

Authors : Mary, Laura; Piton, Amélie; Schaefer, Elise

Source: European Journal of Human Genetics: EJHG; July 2018, Vol. 26 Issue: 7 p996-1006, 11p

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Periodical

Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin

Authors : Zepeda-Mendoza, Cinthya; Bardon, Alexandra; Kammin, Tammy

Source: European Journal of Human Genetics: EJHG; March 2018, Vol. 26 Issue: 3 p374-381, 8p

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Periodical

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Authors : Collins, Ryan; Brand, Harrison; Redin, Claire

Source: Genome Biology; December 2017, Vol. 18 Issue: 1 p1-21, 21p

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Periodical

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia

Authors : Lohmann, Katja; Redin, Claire; Tönnies, Holger

Source: JAMA Neurology; July 2017, Vol. 74 Issue: 7 p806-812, 7p

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Periodical

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

Authors : Quartier, Angélique; Poquet, Hélène; Gilbert-Dussardier, Brigitte

Source: European Journal of Human Genetics: EJHG; April 2017, Vol. 25 Issue: 4 p423-431, 9p

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Periodical

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Authors : Redin, Claire; Brand, Harrison; Collins, Ryan L

Source: Nature Genetics; January 2017, Vol. 49 Issue: 1 p36-45, 10p

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Periodical

Identification of a novel mutation confirms the implication of IFT172(BBS20)in Bardet–Biedl syndrome

Authors : Schaefer, Elise; Stoetzel, Corinne; Scheidecker, Sophie

Source: Journal of Human Genetics; May 2016, Vol. 61 Issue: 5 p447-450, 4p

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