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Disruption of YWHAE gene at 17p13.3 causes learning disabilities and brain abnormalities

Clinical genetics, 2018-02, Vol.93 (2), p.365-367

2018

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Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome

Brain (London, England : 1878), 2006-11, Vol.129 (11), p.3115-3123

2006

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Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

Nature genetics, 2000-01, Vol.24 (1), p.84-87

2000

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Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort

Neurogenetics, 2013-11, Vol.14 (3-4), p.181-188

2013

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Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer

Current oncology (Toronto), 2020-04, Vol.27 (2), p.e182-190

2020

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Prevalence and penetrance of BRCA1 and BRCA2 gene Mutations in unselected Ashkenazi Jewish women with breast cancer

JNCI : Journal of the National Cancer Institute, 1999-07, Vol.91 (14), p.1241-1247

1999

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Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations

Neurology, 2001-08, Vol.57 (4), p.621-625

2001

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Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000

Clinical genetics, 2003-06, Vol.63 (6), p.462-475

2003

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Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

Breast cancer research and treatment, 2007-10, Vol.105 (2), p.221-228

2007

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Germline truncating mutations in both MSH2 and BRCA2 in a single kindred

British journal of cancer, 2004-01, Vol.90 (2), p.483-491

2004

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Perceptions of Ashkenazi Jewish breast cancer patients on genetic testing for mutations in BRCA1 and BRCA2

Clinical genetics, 2000-05, Vol.57 (5), p.376-383

2000

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Not on the face alone: perception of contextualized face expressions in Huntington's disease

Brain (London, England : 1878), 2009-06, Vol.132 (6), p.1633-1644

2009

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International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers

International journal of cancer, 2008-05, Vol.122 (9), p.2017-2022

2008

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Genetics and insurance

Canadian Medical Association journal (CMAJ), 2004-08, Vol.171 (5), p.432-432

Meschino, Wendy S

2004

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External validation of prognostic models to predict stillbirth using International Prediction of Pregnancy Complications (IPPIC) Network database: individual participant data meta‐analysis

Ultrasound in obstetrics & gynecology, 2022-02, Vol.59 (2), p.209-219

2022

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GenetiKit: a randomized controlled trial to enhance delivery of genetics services by family physicians

Family practice, 2011-12, Vol.28 (6), p.615-623

2011

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Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination

JAMA : the journal of the American Medical Association, 2004-09, Vol.292 (11), p.1317

2004

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Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

Genetics in medicine, 2009-11, Vol.11 (11), p.797-805

2009

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Infertility, treatment of infertility, and the risk of breast cancer among women with BRCA1 and BRCA2 mutations: a case-control study

Cancer causes & control, 2008-12, Vol.19 (10), p.1111-1119

2008

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Abstract P3-02-10: Implementation and uptake of a provincial, population-based, organized breast screening program for high risk women in Ontario: The Ontario breast screening program (OBSP) high risk program

Cancer research (Chicago, Ill.), 2012-12, Vol.72 (24_Supplement), p.P3-P3-02-10

2012

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Does the age of breast cancer diagnosis in first-degree relatives impact on the risk of breast cancer in BRCA1 and BRCA2 mutation carriers?

Breast cancer research and treatment, 2015-11, Vol.154 (1), p.163-169

2015

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The Importance of a Family History of Breast Cancer in Predicting the Presence of a BRCA Mutation

American journal of human genetics, 1999-12, Vol.65 (6), p.1776-1778

1999

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New point mutations and deletions of the connexin 32 gene in x-linked charcot-marie-tooth neuropathy

Neuromuscular disorders : NMD, 1995-07, Vol.5 (4), p.297-299

1995

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Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment

Journal of medical genetics, 1993-07, Vol.30 (7), p.549-556

1993

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Effect of genetic information on care

Canadian Medical Association journal (CMAJ), 1996-09, Vol.155 (5), p.509; author reply 509, 512

Meschino, W S

1996

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Disruption of YWHAE gene at 17p13.3 causes learning disabilities and brain abnormalities

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort

Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer

Prevalence and penetrance of BRCA1 and BRCA2 gene Mutations in unselected Ashkenazi Jewish women with breast cancer

Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations

Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000

Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

Germline truncating mutations in both MSH2 and BRCA2 in a single kindred

Perceptions of Ashkenazi Jewish breast cancer patients on genetic testing for mutations in BRCA1 and BRCA2

Not on the face alone: perception of contextualized face expressions in Huntington's disease

International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers

Genetics and insurance

External validation of prognostic models to predict stillbirth using International Prediction of Pregnancy Complications (IPPIC) Network database: individual participant data meta‐analysis

GenetiKit: a randomized controlled trial to enhance delivery of genetics services by family physicians

Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination

Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

Infertility, treatment of infertility, and the risk of breast cancer among women with BRCA1 and BRCA2 mutations: a case-control study

Abstract P3-02-10: Implementation and uptake of a provincial, population-based, organized breast screening program for high risk women in Ontario: The Ontario breast screening program (OBSP) high risk program

Does the age of breast cancer diagnosis in first-degree relatives impact on the risk of breast cancer in BRCA1 and BRCA2 mutation carriers?

The Importance of a Family History of Breast Cancer in Predicting the Presence of a BRCA Mutation

New point mutations and deletions of the connexin 32 gene in x-linked charcot-marie-tooth neuropathy

Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment

Effect of genetic information on care

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