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TUFM-variants lead to white matter abnormalities mimicking multiple sclerosis

European journal of neurology, 2023-10, Vol.30 (10), p.3400-3403

2023

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Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping

Haemophilia : the official journal of the World Federation of Hemophilia, 2023-05, Vol.29 (3), p.921-924

2023

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Allgrove Syndrome: A Report of New Pathological Variants in the AAAS Gene

Cornea, 2020-06, Vol.39 (6), p.782-783

2020

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Variable phenotypic expression of MYOC mutations in a family with inherited pediatric glaucoma

Canadian journal of ophthalmology, 2023-12, Vol.58 (6), p.e269-e270

2023

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A full molecular picture of F8 intron 1 inversion created with optical genome mapping

Haemophilia : the official journal of the World Federation of Hemophilia, 2021-09, Vol.27 (5), p.e638-e640

2021

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Atypical Presentation and Evolution of Necrotizing Enterocolitis as a PIK3CA Pathological Variant

Curēus (Palo Alto, CA), 2024-04

2024

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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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Mucolipidosis type IV in a child

Journal of AAPOS, 2018-12, Vol.22 (6), p.469-471

2018

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A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL

European journal of human genetics : EJHG, 2020-04, Vol.28 (4), p.461-468

2020

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The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study

Journal of child neurology, 2023-04, Vol.38 (5), p.329-335

2023

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Prenatal pleural effusions and chylothorax: An unusual presentation for CM‐AVM syndrome due to RASA1

American journal of medical genetics. Part A, 2020-10, Vol.182 (10), p.2454-2460

2020

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A case of familial transmission of the newly described DNMT3A‐Overgrowth Syndrome

American journal of medical genetics. Part A, 2017-07, Vol.173 (7), p.1887-1890

2017

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Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

Human genetics, 2022-02, Vol.141 (2), p.257-272

2022

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Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic

Journal of child neurology, 2022-03, Vol.37 (4), p.237-245

2022

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Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2 -related disorders

Journal of medical genetics, 2018-05, Vol.55 (5), p.316-321

2018

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Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency

JIMD reports, 2022-09, Vol.63 (5), p.400-406

2022

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P332: A homozygous POU3F2 polyproline tract expansion is associated with severe psychomotor delay, developmental and epileptic encephalopathy, and ichthyosis

Genetics in Medicine Open, 2023, Vol.1 (1), p.100360, Article 100360

2023

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Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics

Journal of medical genetics, 2013-09, Vol.50 (9), p.614-626

2013

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Spinal muscular atrophy: Clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers

Clinical biochemistry, 2012-01, Vol.45 (1-2), p.88-91

2012

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Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles

Molecular genetics and metabolism reports, 2018-03, Vol.14 (C), p.55-58

2018

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The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients

Molecular genetics and metabolism, 2024-05, Vol.142 (1), p.108345-108345, Article 108345

2024

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Corneal imaging with optical coherence tomography assisting the diagnosis of mucolipidosis type IV

Canadian journal of ophthalmology, 2021-08, Vol.56 (4), p.e120-e121

2021

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Locus-specific dual color-probe for the enumeration of chromosome 18 in rapid FISH aneuploidy testing on uncultured amniocytes

Prenatal diagnosis, 2010-08, Vol.30 (8), p.811-812

2010

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TUFM-variants lead to white matter abnormalities mimicking multiple sclerosis

Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping

Allgrove Syndrome: A Report of New Pathological Variants in the AAAS Gene

Variable phenotypic expression of MYOC mutations in a family with inherited pediatric glaucoma

A full molecular picture of F8 intron 1 inversion created with optical genome mapping

Atypical Presentation and Evolution of Necrotizing Enterocolitis as a PIK3CA Pathological Variant

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

Mucolipidosis type IV in a child

A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL

The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study

Prenatal pleural effusions and chylothorax: An unusual presentation for CM‐AVM syndrome due to RASA1

A case of familial transmission of the newly described DNMT3A‐Overgrowth Syndrome

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2 -related disorders

Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency

P332: A homozygous POU3F2 polyproline tract expansion is associated with severe psychomotor delay, developmental and epileptic encephalopathy, and ichthyosis

Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics

Spinal muscular atrophy: Clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles

The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients

Corneal imaging with optical coherence tomography assisting the diagnosis of mucolipidosis type IV

Locus-specific dual color-probe for the enumeration of chromosome 18 in rapid FISH aneuploidy testing on uncultured amniocytes

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository

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