Lysanne Patry
Centre Hospitalier Universitaire Sainte-Justine(CA)Université de Montréal(CA)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology, Genetic and Kidney Cyst Diseases, RNA and protein synthesis mechanisms, Cellular transport and secretion
Most-Cited Works
- → De Novo Mutations in Moderate or Severe Intellectual Disability(2014)415 cited
- → Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency(2012)274 cited
- → SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function(2011)235 cited
- → Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4(2010)195 cited
- → Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome(2011)171 cited
- → Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy(2013)165 cited
- → Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population(2012)137 cited
- → Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia(2013)111 cited
- → Identification and Biochemical Characterization of a Novel Mutation inDDX11Causing Warsaw Breakage Syndrome(2012)104 cited
- → Mutations in NOTCH2 in families with Hajdu-Cheney syndrome(2011)104 cited