Judith St‐Onge - Concepedia

Author

Judith St‐Onge

Also Known As

Alice Masurel‐Paulet, Daniel Rochefort, J St-Onge, J. St-Onge, J. St‐Onge, Judith ST-Onge, Judith St-Onge, Judith St‐Onge

Publications

4.9K

Citations

H-Index

Concepts

All Affiliations

Université de Bourgogne CHU Dijon Bourgogne Inserm McGill University McGill University Health Centre

About

Judith St‐Onge is an author at Université de Bourgogne specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	18	24	2.3K
2	Cell Biology	3	3	402
3	Social Sciences	2	2	183
4	Diabetes	2	2	213
5	Public Health	1	1	14

Judith St‐Onge

Publications

4.3K

Citations

H-Index

Page 1

	Year	Citations
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak, Nature Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsPathogenesis	2012	737
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia Laura A. Jansen, Ghayda Mirzaa, Gisele E. Ishak, Brain	2015	359
Novel de novo SHANK3 mutation in autistic patients Julie Gauthier, Dan Spiegelman, Amélie Piton, American Journal of Medical Genetics Part B Neuropsychiatric Genetics	2008	320
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test Julien Thévenon, Yannis Duffourd, Alice Masurel‐Paulet, Clinical Genetics	2016	265
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function Anna Fassio, Lysanne Patry, Sonia Congia, Human Molecular Genetics	2011	233
PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy Christel Thauvin‐Robinet, Martine Auclair, Laurence Duplomb, The American Journal of Human Genetics Metabolic SyndromeGeneticsDiabetesMedicineInsulin Signaling	2013	199
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis Sophie Nambot, Julien Thévenon, Paul Kuentz, Genetics in Medicine Developmental AnomalyRare DiseasesMendelian DisorderGenetic DisorderMedicine	2017	193
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Ghayda Mirzaa, David Parry, Andrew E. Fry, Nature Genetics Disease MechanismGenetic DisorderPathogenesisAutophagyPathology	2014	148
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation Christel Thauvin‐Robinet, Jaclyn S Lee, Estelle Lopez, Nature Genetics Developmental AnomalyDevelopmental BiologyGenetic DisorderOral CavityGenetics	2014	145
Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life Julien Thévenon, Mathieu Milh, François Feillet, The American Journal of Human Genetics First DaysNeurobiology Of DiseaseNeurological DisorderGenetic DisorderGenetics	2014	133

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