Pierre Lindenbaum

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Connie R. Bezzina, Julien Barc, Yuka Mizusawa et al. · Nature Genetics · 2013 · 540 citations · Full text

Cardiomyopathy, Genetic Disorder, Genetics +9

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Bertrand Isidor, Pierre Lindenbaum, Olivier Pichon et al. · Nature Genetics · 2011 · 193 citations

Bone Disease, Last Exon, Rare Skeletal Disorder +8

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 193 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

Solena Le Scouarnec, Matilde Karakachoff, Jean‐Baptiste Gourraud et al. · Human Molecular Genetics · 2015 · 135 citations · Full text

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Estelle Colin, Jens Daniel, Alban Ziegler et al. · The American Journal of Human Genetics · 2016 · 119 citations · Full text

Molecular Neuroscience, Mendelian Disorder, Biallelic Variants +11