Thierry Billette de Villemeur

Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency

Armanda Casrouge, Shen‐Ying Zhang, Céline Eidenschenk et al. · Science · 2006 · 759 citations

Medicine, Infectious Diseases, Neurology +7

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype

Romain Micol, Lilia Ben Slama, Felipe Suárez et al. · Journal of Allergy and Clinical Immunology · 2011 · 162 citations

Life Sciences, Genetics, Neurology +12

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr et al. · The American Journal of Human Genetics · 2018 · 153 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the<i>TITF1/NKX2-1</i>gene

Domitille Gras, Laurence Jonard, Emmanuel Roze et al. · Journal of Neurology Neurosurgery & Psychiatry · 2012 · 126 citations

Life Sciences, Genetics, Molecular Genetics +17