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extremes of outcome strategy provides evidence that multiple sclerosis severity is determined by alleles at the HLA-DRB1 locus

Proceedings of the National Academy of Sciences - PNAS, 2007-12, Vol.104 (52), p.20896-20901

2007

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Risk alleles for multiple sclerosis in multiplex families

Neurology, 2009-06, Vol.72 (23), p.1984-1988

2009

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HLA-DRB1 and month of birth in multiple sclerosis

Neurology, 2009-12, Vol.73 (24), p.2107-2111

2009

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A genome scan in a single pedigree with a high prevalence of multiple sclerosis

Journal of neurology, neurosurgery and psychiatry, 2008-02, Vol.79 (2), p.158-162

2008

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Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli–Seip syndrome

European journal of medical genetics, 2014-09, Vol.57 (9), p.524-526

2014

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A multigenerational family with multiple sclerosis

Brain (London, England : 1878), 2002-07, Vol.125 (7), p.1474-1482

2002

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Evidence of Linkage with HLA-DR in DRB115-Negative Families with Multiple Sclerosis

American journal of human genetics, 2001-10, Vol.69 (4), p.900-903

2001

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No evidence to support CTLA-4 as a susceptibility gene in MS families: the Canadian Collaborative Study

Journal of neuroimmunology, 2002-02, Vol.123 (1), p.193-198

2002

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Follow-up investigation of 12 proposed linkage regions in multiple sclerosis

Genes and immunity, 2006-07, Vol.7 (5), p.366-371

2006

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HLA B44: protective effects in MS susceptibility and MRI outcome measures

Neurology, 2011-08, Vol.77 (6), p.602; author reply 602-603

2011

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Epigenetics in multiple sclerosis susceptibility: difference in transgenerational risk localizes to the major histocompatibility complex

Human molecular genetics, 2009-01, Vol.18 (2), p.261-266

2009

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Complex interactions among MHC haplotypes in multiple sclerosis: susceptibility and resistance

Human molecular genetics, 2005-07, Vol.14 (14), p.2019-2026

2005

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Transmission of class I/II multi-locus MHC haplotypes and multiple sclerosis susceptibility: accounting for linkage disequilibrium

Human molecular genetics, 2007-08, Vol.16 (16), p.1951-1958

2007

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Maternal - offspring HLA-DRB1 compatibility in multiple sclerosis

Tissue antigens, 2005-07, Vol.66 (1), p.44-47

2005

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Re: HLA-DRB1 and multiple sclerosis in Malta

Neurology, 2008-10, Vol.71 (17), p.1379

2008

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Parental non-inherited HLA resistance alleles do not confer protection against multiple sclerosis

Journal of neuroimmunology, 2008-05, Vol.196 (1), p.170-172

2008

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Genetic analysis of vitamin D related genes in Canadian multiple sclerosis patients. Canadian Collaborative Study Group

Neurology, 2000-02, Vol.54 (3), p.729

2000

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XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

Nature (London), 2017-01, Vol.541 (7635), p.87-91

2017

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Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

American journal of human genetics, 2016-01, Vol.98 (1), p.202-209

2016

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Yunis-Varón syndrome caused by biallelic VAC14 mutations

European journal of human genetics : EJHG, 2017-09, Vol.25 (9), p.1049-1054

2017

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Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy

Clinical genetics, 2021-05, Vol.99 (5), p.746-748

2021

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extremes of outcome strategy provides evidence that multiple sclerosis severity is determined by alleles at the HLA-DRB1 locus

Risk alleles for multiple sclerosis in multiplex families

HLA-DRB1 and month of birth in multiple sclerosis

A genome scan in a single pedigree with a high prevalence of multiple sclerosis

Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli–Seip syndrome

A multigenerational family with multiple sclerosis

Evidence of Linkage with HLA-DR in DRB115-Negative Families with Multiple Sclerosis

No evidence to support CTLA-4 as a susceptibility gene in MS families: the Canadian Collaborative Study

Follow-up investigation of 12 proposed linkage regions in multiple sclerosis

HLA B44: protective effects in MS susceptibility and MRI outcome measures

Epigenetics in multiple sclerosis susceptibility: difference in transgenerational risk localizes to the major histocompatibility complex

Complex interactions among MHC haplotypes in multiple sclerosis: susceptibility and resistance

Transmission of class I/II multi-locus MHC haplotypes and multiple sclerosis susceptibility: accounting for linkage disequilibrium

Maternal - offspring HLA-DRB1 compatibility in multiple sclerosis

Re: HLA-DRB1 and multiple sclerosis in Malta

Parental non-inherited HLA resistance alleles do not confer protection against multiple sclerosis

Genetic analysis of vitamin D related genes in Canadian multiple sclerosis patients. Canadian Collaborative Study Group

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

Matchmaking facilitates the diagnosis of an autosomal‐recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

Yunis-Varón syndrome caused by biallelic VAC14 mutations

Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy

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