Christèle du Souich

Phenotypic Variation in Heterozygous Familial Hypercholesterolemia

Simon N. Pimstone, Xi‐Ming Sun, Christèle du Souich et al. · Arteriosclerosis Thrombosis and Vascular Biology · 1998 · 138 citations · Full text

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Anna Lehman, Samrat Thouta, Grazia M.S. Mancini et al. · The American Journal of Human Genetics · 2017 · 124 citations · Full text

Epileptic Encephalopathy, Neurophysiology, Genetic Disorder +10

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges

Alison M. Elliott, Christèle du Souich, Anna Lehman et al. · European Journal of Pediatrics · 2019 · 84 citations

Sequencing, Next-generation Sequencing, Genetics +8

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

Keith W. McLarren, Tesa Severson, Christèle du Souich et al. · The American Journal of Human Genetics · 2010 · 74 citations · Full text

Mendelian Disorder, Autoimmune Disease, Disease Mechanism +6

The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders

Nick Dragojlovic, Clara van Karnebeek, Aisha Ghani et al. · Genetics in Medicine · 2019 · 42 citations · Full text

Primary Care, Health Economics, Pediatrics +8