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FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

American journal of human genetics, 2014-06, Vol.94 (6), p.809-817

2014

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De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

Proceedings of the National Academy of Sciences - PNAS, 2010-04, Vol.107 (17), p.7863-7868

2010

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Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

American journal of human genetics, 2012-04, Vol.90 (4), p.693-700

2012

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Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

Neuron (Cambridge, Mass.), 2013-10, Vol.80 (2), p.429-441

2013

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Evolution of the patellar sesamoid bone in mammals

PeerJ (San Francisco, CA), 2017-03, Vol.5, p.e3103-e3103, Article e3103

2017

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Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4

American journal of human genetics, 2010-07, Vol.87 (1), p.40-51

2010

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Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

Nature genetics, 2011-04, Vol.43 (4), p.360-364

2011

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Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly

Journal of medical genetics, 2013-11, Vol.50 (11), p.740-744

2013

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A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree

Human genetics, 2004-03, Vol.114 (4), p.349-353

2004

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A novel rearrangement of occludin causes brain calcification and renal dysfunction

Human genetics, 2013-11, Vol.132 (11), p.1223-1234

2013

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A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

Brain (London, England : 1878), 2011-02, Vol.134 (Pt 2), p.602-607

2011

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Genetics of the patella

European journal of human genetics : EJHG, 2019-05, Vol.27 (5), p.671-680

2019

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Identification of a Novel Gene ( HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates

American journal of human genetics, 2004-05, Vol.74 (5), p.1064-1073

2004

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Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

Human molecular genetics, 2014-02, Vol.23 (4), p.980-991

2014

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Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis

Thyroid (New York, N.Y.), 2022-05, Vol.32 (5), p.486-495

2022

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Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

Journal of medical genetics, 2013-05, Vol.50 (5), p.324-329

2013

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A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1266-1268

2015

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Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

Human mutation, 2011-10, Vol.32 (10), p.1114-1117

2011

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Demonstration of Autosomal Monoallelic Expression in Thyroid Tissue Assessed by Whole-Exome and Bulk RNA Sequencing

Thyroid (New York, N.Y.), 2016-06, Vol.26 (6), p.852-859

2016

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Somatic Mutations Are Not Observed by Exome Sequencing of Lymphocyte DNA from Monozygotic Twins Discordant for Congenital Hypothyroidism due to Thyroid Dysgenesis

Hormone research in paediatrics, 2015-01, Vol.83 (2), p.79-85

2015

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Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria

Journal of medical genetics, 2015-05, Vol.52 (5), p.303-311

2015

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Response to: Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?

Human mutation, 2015-03, Vol.36 (3), p.389-389

2015

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Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome

Human mutation, 2013-01, Vol.34 (1), p.103-107

2013

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Bioinactive ACTH Causing Glucocorticoid Deficiency

The journal of clinical endocrinology and metabolism, 2013-02, Vol.98 (2), p.736-742

2013

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FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

Evolution of the patellar sesamoid bone in mammals

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly

A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree

A novel rearrangement of occludin causes brain calcification and renal dysfunction

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

Genetics of the patella

Identification of a Novel Gene ( HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

Demonstration of Autosomal Monoallelic Expression in Thyroid Tissue Assessed by Whole-Exome and Bulk RNA Sequencing

Somatic Mutations Are Not Observed by Exome Sequencing of Lymphocyte DNA from Monozygotic Twins Discordant for Congenital Hypothyroidism due to Thyroid Dysgenesis

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria

Response to: Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?

Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome

Bioinactive ACTH Causing Glucocorticoid Deficiency

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