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Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis
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Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis

Lefebvre, M. ; Duffourd, Y. ; Jouan, T. ; Poe, C. ; Jean‐Marçais, N. ; Verloes, A. ; St‐Onge, J. ; Riviere, J.‐B. ; Petit, F. ; Pierquin, G. ; Demeer, B. ; Callier, P. ; Thauvin‐Robinet, C. ; Faivre, L. ; Thevenon, J.

Clinical genetics, 2017-06, Vol.91 (6), p.908-912 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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2
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
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PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

Jansen, Laura A ; Mirzaa, Ghayda M ; Ishak, Gisele E ; O'Roak, Brian J ; Hiatt, Joseph B ; Roden, William H ; Gunter, Sonya A ; Christian, Susan L ; Collins, Sarah ; Adams, Carissa ; Rivière, Jean-Baptiste ; St-Onge, Judith ; Ojemann, Jeffrey G ; Shendure, Jay ; Hevner, Robert F ; Dobyns, William B

Brain (London, England : 1878), 2015-06, Vol.138 (Pt 6), p.1613-1628 [Periódico revisado por pares]

England: Oxford University Press

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3
Novel de novo SHANK3 mutation in autistic patients
Novel de novo SHANK3 mutation in autistic patients
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Novel de novo SHANK3 mutation in autistic patients

Gauthier, Julie ; Spiegelman, Dan ; Piton, Amélie ; Lafrenière, Ronald G. ; Laurent, Sandra ; St-Onge, Judith ; Lapointe, Line ; Hamdan, Fadi F. ; Cossette, Patrick ; Mottron, Laurent ; Fombonne, Éric ; Joober, Ridha ; Marineau, Claude ; Drapeau, Pierre ; Rouleau, Guy A.

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2009-04, Vol.150B (3), p.421-424 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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4
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia
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Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

Thevenon, J. ; Duplomb, L. ; Phadke, S. ; Eguether, T. ; Saunier, A. ; Avila, M. ; Carmignac, V. ; Bruel, A.-L. ; St-Onge, J. ; Duffourd, Y. ; Pazour, G.J. ; Franco, B. ; Attie-Bitach, T. ; Masurel-Paulet, A. ; Rivière, J.-B. ; Cormier-Daire, V. ; Philippe, C. ; Faivre, L. ; Thauvin-Robinet, C.

Clinical genetics, 2016-12, Vol.90 (6), p.509-517 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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5
NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population
NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population
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NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population

Gauthier, Julie ; Bonnel, Anna ; St-Onge, Judith ; Karemera, Liliane ; Laurent, Sandra ; Mottron, Laurent ; Fombonne, Éric ; Joober, Ridha ; Rouleau, Guy A.

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2005-01, Vol.132B (1), p.74-75 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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6
The 14q restless legs syndrome locus in the French Canadian population
The 14q restless legs syndrome locus in the French Canadian population
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The 14q restless legs syndrome locus in the French Canadian population

Levchenko, Anastasia ; Montplaisir, Jacques-Yves ; Dubé, Marie-Pierre ; Riviere, Jean-Baptiste ; St-Onge, Judith ; Turecki, Gustavo ; Xiong, Lan ; Thibodeau, Pascale ; Desautels, Alex ; Verlaan, Dominique J. ; Rouleau, Guy A.

Annals of neurology, 2004-06, Vol.55 (6), p.887-891 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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7
Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy
Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy
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Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

Kambouris, Marios ; Thevenon, Julien ; Soldatos, Ariane ; Cox, Allison ; Stephen, Joshi ; Ben‐Omran, Tawfeg ; Al‐Sarraj, Yasser ; Boulos, Hala ; Bone, William ; Mullikin, James C. ; Masurel‐Paulet, Alice ; St‐Onge, Judith ; Dufford, Yannis ; Chantegret, Corrine ; Thauvin‐Robinet, Christel ; Al‐Alami, Jamil ; Faivre, Laurence ; Riviere, Jean Baptiste ; Gahl, William A. ; Bassuk, Alexander G. ; Malicdan, May Christine V. ; El‐Shanti, Hatem

Annals of clinical and translational neurology, 2017-01, Vol.4 (1), p.26-35 [Periódico revisado por pares]

United States: Wiley

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8
SPG4 Founder Effect in French Canadians with Hereditary Spastic Paraplegia
SPG4 Founder Effect in French Canadians with Hereditary Spastic Paraplegia
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SPG4 Founder Effect in French Canadians with Hereditary Spastic Paraplegia

Meijer, Inge A. ; Dupré, Nicolas ; Brais, Bernard ; Cossette, Patrick ; St-Onge, Judith ; Rioux, Marie-France ; Benard, Melanie ; Rouleau, Guy A.

Canadian journal of neurological sciences, 2007-05, Vol.34 (2), p.211-214 [Periódico revisado por pares]

Cambridge, UK: Cambridge University Press

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9
Clinical Stringency Greatly Improves Mutation Detection in Rett Syndrome
Clinical Stringency Greatly Improves Mutation Detection in Rett Syndrome
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Clinical Stringency Greatly Improves Mutation Detection in Rett Syndrome

Gauthier, Julie ; Amorim, Giovana de ; Mnatzakanian, Gevork N. ; Saunders, Carol ; Vincent, John B. ; Toupin, Sylvie ; Kauffman, David ; St-Onge, Judith ; Laurent, Sandra ; Macleod, Patrick M. ; Minassian, Berge A. ; Rouleau, Guy A.

Canadian journal of neurological sciences, 2005-08, Vol.32 (3), p.321-326 [Periódico revisado por pares]

Cambridge, UK: Cambridge University Press

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10
MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels
MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels
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MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels

Xiong, Lan ; Catoire, Hélène ; Dion, Patrick ; Gaspar, Claudia ; Lafrenière, Ronald G. ; Girard, Simon L. ; Levchenko, Anastasia ; Rivière, Jean-Baptiste ; Fiori, Laura ; St-Onge, Judith ; Bachand, Isabelle ; Thibodeau, Pascale ; Allen, Richard ; Earley, Christopher ; Turecki, Gustavo ; Montplaisir, Jacques ; Rouleau, Guy A.

Human molecular genetics, 2009-03, Vol.18 (6), p.1065-1074 [Periódico revisado por pares]

Oxford: Oxford University Press

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